id stringlengths 2 20 | ch_id stringlengths 2 20 | keywords listlengths 0 162 | title stringlengths 0 130 | authors stringlengths 0 245 | abstract stringlengths 0 4.05k | content stringlengths 0 197k | references listlengths 0 142 | created_date stringlengths 0 10 | updated_date stringlengths 0 10 | revised_date stringlengths 0 10 | journal stringclasses 1
value | source_url stringclasses 1
value | publication_types listlengths 2 2 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
hlh | hlh | [
"Familial Erythrophagocytic Lymphohistiocytosis",
"Primary Hemophagocytic Lymphohistiocytosis",
"Familial Erythrophagocytic Lymphohistiocytosis",
"Primary Hemophagocytic Lymphohistiocytosis",
"PRF1-Related Familial Hemophagocytic Lymphohistiocytosis (PRF1-fHLH)",
"UNC13D-Related Familial Hemophagocytic Ly... | Familial Hemophagocytic Lymphohistiocytosis | Kejian Zhang, Itziar Astigarraga, Yenan Bryceson, Kai Lehmberg, Rafal Machowicz, Rebecca Marsh, Elena Sieni, Zhao Wang, Kim E Nichols | Summary Familial hemophagocytic lymphohistiocytosis (fHLH), defined as the presence of biallelic pathogenic variants in one of four genes ( The diagnosis of fHLH is established in a proband with suggestive findings by identification of either biallelic pathogenic variants in one of four genes ( Familial HLH is inherite... | Hemophagocytic lymphohistiocytosis (HLH) is a phenotype characterized by critical illness caused by toxic activation of immune cells from different underlying mechanisms. The signs and symptoms of HLH (recurring episodes of hyperinflammation) result from infiltration of organs (e.g., bone marrow, liver, spleen, and bra... | [] | 22/3/2006 | 30/9/2021 | 6/6/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
hlrcc | hlrcc | [
"Fumarate Hydratase Tumor Predisposition Syndrome (FHTPS)",
"Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)",
"Multiple Cutaneous and Uterine Leiomyomatosis (MCL/MCUL)",
"Reed's Syndrome",
"Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)",
"Multiple Cutaneous and Uterine Leiomyomatosis (M... | Junne Kamihara, Kris Ann Schultz, Huma Q Rana | Summary Diagnosis of | ## Diagnosis
Clinical criteria have been proposed for a likely or suspected diagnosis [
Skin-colored to light brown/reddish papules or nodules distributed across the trunk, extremities, and occasionally on the face and neck
Most often multiple; may be grouped/clustered, segmental, or disseminated
Histopathology s... | [] | 31/7/2006 | 8/5/2025 | 13/8/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
hmdpc | hmdpc | [
"Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease",
"HMNDYT1",
"Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease",
"HMNDYT1",
"Calcium/manganese antiporter SLC30A10",
"SLC30A10",
"Hypermanganesemia with Dystonia 1"
] | Hypermanganesemia with Dystonia 1 | Karin Tuschl, Peter T Clayton, Sidney M Gospe, Philippa B Mills | Summary Hypermanganesemia with dystonia 1 (HMNDYT1) is characterized by the following: A movement disorder resulting from manganese accumulation in the basal ganglia Whole-blood manganese concentrations that often exceed 2000 nmol/L (normal: <320 nmol/L) Polycythemia Hepatomegaly with variable hepatic fibrosis/cirrhosi... | ## Diagnosis
Hypermanganesemia with dystonia 1 (HMNDYT1) presents as a movement disorder associated with manganese accumulation in the basal ganglia. No consensus clinical diagnostic criteria have been published.
HMNDYT1
An early- and a late-onset form exist:
T
T
Note: Normalization of manganese blood levels (see... | [] | 30/8/2012 | 23/12/2021 | 8/11/2012 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
hmerf | hmerf | [
"HMERF",
"MFM-Titinopathy",
"Myofibrillar Myopathy with Early Respiratory Failure",
"MFM-Titinopathy",
"Myofibrillar Myopathy with Early Respiratory Failure",
"HMERF",
"Titin",
"TTN",
"Hereditary Myopathy with Early Respiratory Failure"
] | Hereditary Myopathy with Early Respiratory Failure | Gerald Pfeffer, Patrick F Chinnery | Summary Hereditary myopathy with early respiratory failure (HMERF) is a slowly progressive myopathy that typically begins in the third to fifth decades of life. The usual presenting findings are gait disturbance relating to distal leg weakness or nocturnal respiratory symptoms due to respiratory muscle weakness. Weakne... | ## Diagnosis
Hereditary myopathy with early respiratory failure (HMERF) is a slowly progressive myopathy with typical onset in adulthood. The diagnosis of this rare disorder is not supported by any formal diagnostic criteria at this time.
Diagnosis of hereditary myopathy with early respiratory failure (HMERF)
Adult-... | [] | 27/2/2014 | 19/3/2020 | 12/12/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
hna | hna | [
"Hereditary Brachial Plexus Neuropathy",
"Neuritis with Brachial Predilection",
"Hereditary Brachial Plexus Neuropathy",
"Neuritis with Brachial Predilection",
"Septin-9",
"SEPTIN9",
"Hereditary Neuralgic Amyotrophy"
] | Hereditary Neuralgic Amyotrophy – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY | Nens van Alfen, Mark C Hannibal, Phillip F Chance, Baziel GM van Engelen | Summary Hereditary neuralgic amyotrophy (HNA) is characterized by sudden onset of severe, non-abating pain in the shoulder girdle and/or the upper limb and amyotrophy (muscle wasting or atrophy) that typically develops within two weeks of the onset of severe pain. Other sites may also be involved in an attack; sensory... | ## Diagnosis
Hereditary neuralgic amyotrophy (HNA) is an episodic disorder diagnosed clinically using criteria developed by the European CMT Consortium; see modified criteria (
Sensory and motor nerves are typically affected; occasionally autonomic nerve injury also occurs.
HNA is characterized in 95% of cases by th... | [] | 27/2/2008 | 6/12/2012 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
hnpcc | hnpcc | [
"Hereditary Non-Polyposis Colorectal Cancer (HNPCC)",
"DNA mismatch repair protein Mlh1",
"DNA mismatch repair protein Msh2",
"DNA mismatch repair protein Msh6",
"Epithelial cell adhesion molecule",
"Mismatch repair endonuclease PMS2",
"EPCAM",
"MLH1",
"MSH2",
"MSH6",
"PMS2",
"Lynch Syndrome"
... | Lynch Syndrome | Gregory Idos, Laura Valle | Summary Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas), pancreas, and prostate. Cancer risks an... | ## Diagnosis
No consensus clinical diagnostic criteria for Lynch syndrome have been published.
A diagnosis of Lynch syndrome
A diagnosis of a tumor of the Lynch syndrome spectrum (e.g., colorectal, endometrial, ovarian, stomach, small bowel, urinary tract [urothelial], biliary tract, prostate, brain [usually gliobla... | [
"M Aarnio, R Salovaara, LA Aaltonen, JP Mecklin, HJ Jarvinen. Features of gastric cancer in hereditary non-polyposis colorectal cancer syndrome.. Int J Cancer 1997;74:551-5",
"R Adam, I Spier, B Zhao, M Kloth, J Marquez, I Hinrichsen, J Kirfel, A Tafazzoli, S Horpaopan, S Uhlhaas, D Stienen, N Friedrichs, J Altmü... | 5/2/2004 | 4/2/2021 | 12/4/2018 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
hnpp | hnpp | [
"HNPP",
"HNPP",
"Peripheral myelin protein 22",
"PMP22",
"Hereditary Neuropathy with Liability to Pressure Palsies"
] | Hereditary Neuropathy with Liability to Pressure Palsies | Nicolas Chrestian | Summary Hereditary neuropathy with liability to pressure palsies (HNPP) is characterized by recurrent acute sensory and motor neuropathy in a single or multiple nerves. The most common initial manifestation is the acute onset of a non-painful focal sensory and motor neuropathy in a single nerve (mononeuropathy). The fi... | ## Diagnosis
Hereditary neuropathy with liability to pressure palsies (HNPP)
Recurrent acute focal sensory and motor neuropathies mainly at entrapment sites
Painless nerve palsy after minor trauma or compression
Evidence on physical examination of previous nerve palsy such as focal weakness, atrophy, or sensory l... | [] | 28/9/1998 | 27/8/2020 | 7/4/2003 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
hnrnph2-ndd | hnrnph2-ndd | [
"Bain Type Syndromic Intellectual Disability",
"X-Linked Syndromic Intellectual Developmental Disorder, Bain Type",
"Bain Type Syndromic Intellectual Disability",
"X-Linked Syndromic Intellectual Developmental Disorder, Bain Type",
"Heterogeneous nuclear ribonucleoprotein H2",
"HNRNPH2",
"HNRNPH2-Relate... | Sehajvir Madhok, Jennifer Bain | Summary Most individuals with The diagnosis of | ## Diagnosis
For the purposes of this
No consensus clinical diagnostic criteria for
Developmental delay / intellectual disability, most often characterized by significant motor abnormalities with severe expressive and receptive language impairment
AND
Any of the following features in infancy or childhood:
Devel... | [
"JM Bain, MT Cho, A Telegrafi, A Wilson, S Brooks, C Botti, G Gowans, LA Autullo, V Krishnamurthy, MC Willing, TL Toler, B Ben-Zev, O Elpeleg, Y Shen, K Retterer, KG Monaghan, WK Chung. Variants in HNRNPH2 on the X chromosome are associated with a neurodevelopmental disorder in females.. Am J Hum Genet. 2016;99:728... | 15/9/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
hnrnpu-ndd | hnrnpu-ndd | [
"Developmental and Epileptic Encephalopathy 54",
"Early Infantile Epileptic Encephalopathy Type 54",
"Early Infantile Epileptic Encephalopathy Type 54",
"Developmental and Epileptic Encephalopathy 54",
"Heterogeneous nuclear ribonucleoprotein U",
"HNRNPU",
"HNRNPU-Related Neurodevelopmental Disorder"
] | Meena Balasubramanian | Summary The diagnosis of | ## Diagnosis
No consensus clinical diagnostic criteria for
Generalized hypotonia of infancy
Infant feeding difficulties
Speech and language delay and/ or absent speech
Autism spectrum disorder or autistic traits
Nonspecific dysmorphic facial features (See
Epilepsy, including generalized tonic-clonic seizures and... | [
"AS Allen, SF Berkovic, P Cossette, N Delanty, D Dlugos, EE Eichler, MP Epstein, T Glauser, DB Goldstein, Y Han, EL Heinzen, Y Hitomi, KB Howell, MR Johnson, R Kuzniecky, DH Lowenstein, YF Lu, MR Madou, AG Marson, HC Mefford, S Esmaeeli Nieh, TJ O'Brien, R Ottman, S Petrovski, A Poduri, EK Ruzzo, IE Scheffer, EH Sh... | 10/3/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
homocystinuria | homocystinuria | [
"Classic Homocystinuria",
"Classic Homocystinuria",
"Cystathionine beta-synthase",
"CBS",
"Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency"
] | Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency | Stephanie J Sacharow, Jonathan D Picker, Harvey L Levy | Summary Homocystinuria caused by cystathionine β-synthase (CBS) deficiency is characterized by involvement of the eye (ectopia lentis and/or severe myopia), skeletal system (excessive height, long limbs, scolioisis, and pectus excavatum), vascular system (thromboembolism), and CNS (developmental delay/intellectual disa... | ## Diagnosis
Guidelines for the diagnosis and management of classic homocystinuria have been developed in Europe [
Classic homocystinuria is caused by deficiency of cystathionine β-synthase (CBS), a pyridoxine (vitamin B
Homocystinuria caused by CBS deficiency (classic homocystinuria)
Classic homocystinuria can be ... | [
"AAM Morris, V Kožich, S Santra, G Andria, TIM Ben-Omran, AB Chakrapani, E Crushell, MJ Henderson, M Hochuli, M Huemer, MCH Janssen, F Maillot, PD Mayne, J McNulty, TM Morrison, H Ogier, S O’Sullivan, M Pavlíková, I Talvares de Almeida, A Terry, S Yap, HJ Blom, KA Chapman. Guidelines for the diagnosis and managemen... | 15/1/2004 | 18/5/2017 | 15/8/2005 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
hops | hops | [
"Alkaline phosphatase, tissue-nonspecific isozyme",
"ALPL",
"Hypophosphatasia"
] | Hypophosphatasia | Kathryn M Dahir, Mark E Nunes | Summary Hypophosphatasia is characterized by defective mineralization of growing or remodeling bone, with or without root-intact tooth loss, in the presence of low activity of serum and bone alkaline phosphatase (ALP). Biallelic The clinical diagnosis of hypophosphatasia can be established in a proband based on clinica... | ## Diagnosis
Clinical diagnostic criteria for hypophosphatasia have been published [
Hypophosphatasia
Clinical features of infantile rickets: growth failure, craniotabes, craniosynostosis, blue sclerae, flail chest, costochondral enlargement ("rachitic rosary"), scoliosis, thickening of wrists, knees, and ankles, ... | [] | 20/11/2007 | 27/3/2025 | 30/3/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
hos | hos | [
"Heart-Hand Syndrome",
"Heart-Hand Syndrome",
"T-box transcription factor TBX5",
"TBX5",
"Holt-Oram Syndrome"
] | Holt-Oram Syndrome | Clémence Vanlerberghe, Florence Petit | Summary Holt-Oram syndrome (HOS) is characterized by the association of upper-limb defects, congenital heart malformations, and cardiac conduction disease. Upper-limb malformations are usually bilateral/asymmetric, rarely unilateral or bilateral/symmetric, and affect the radial ray. They can range from thenar hypoplasi... | ## Diagnosis
Clinical diagnostic criteria for Holt-Oram syndrome (HOS) have been established and validated through molecular genetic testing [
HOS
Note: Congenital malformations involving the following structures or organ systems are not typically within the spectrum of HOS and should prompt the clinician to consi... | [] | 20/7/2004 | 31/7/2025 | 22/11/2006 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
hoxa1-dis | hoxa1-dis | [
"Athabaskan Brain Stem Dysgenesis Syndrome (ABDS)",
"Bosley-Salih-Alorainy Syndrome (BSAS)",
"Homeobox protein Hox-A1",
"HOXA1",
"HOXA1-Related Disorders"
] | Prince Jacob, Venkatraman Bhat, Siddaramappa J Patil | Summary The diagnosis of a | Bosley-Salih-Alorainy syndrome (BSAS)
Athabascan brain stem dysgenesis syndrome (ABDS)
For synonyms and outdated names, see
• Bosley-Salih-Alorainy syndrome (BSAS)
• Athabascan brain stem dysgenesis syndrome (ABDS)
## Diagnosis
Ocular motility disorder: horizontal gaze palsy with or without Duane syndrome (also... | [] | 14/11/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
hpe-overview | hpe-overview | [
"CCR4-NOT transcription complex subunit 1",
"Cell adhesion molecule-related/down-regulated by oncogenes",
"Cohesin subunit SA-2",
"Delta-like protein 1",
"Double-strand-break repair protein rad21 homolog",
"Fibroblast growth factor 8",
"Fibroblast growth factor receptor 1",
"Histone-lysine N-methyltra... | Holoprosencephaly Overview | Cedrik Tekendo-Ngongang, Maximilian Muenke, Paul Kruszka | Summary The purpose of this overview is to: Describe the Review the Provide an Inform | ## Clinical Characteristics of Holoprosencephaly
Holoprosencephaly (HPE), the most common malformation of the forebrain in humans, is a structural anomaly of the brain resulting from failed or incomplete forebrain division in the third to fourth weeks of gestation; the forebrain (prosencephalon) incompletely cleaves ... | [] | 27/12/2000 | 5/3/2020 | 3/11/2011 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
hpp | hpp | [
"HOKPP",
"HypoPP",
"HOKPP",
"HypoPP",
"Sodium channel protein type 4 subunit alpha",
"Voltage-dependent L-type calcium channel subunit alpha-1S",
"CACNA1S",
"SCN4A",
"Hypokalemic Periodic Paralysis"
] | Hypokalemic Periodic Paralysis | Frank Weber, Frank Lehmann-Horn | Summary Hypokalemic periodic paralysis (hypoPP) is a condition in which affected individuals may experience paralytic episodes with concomitant hypokalemia (serum potassium <3.5 mmol/L). The paralytic attacks are characterized by decreased muscle tone (flaccidity) more marked proximally than distally with normal to dec... | ## Diagnosis
Hypokalemic periodic paralysis (hypoPP) can be a primary condition or a symptom of an overarching syndrome or disease (see
HypoPP
Decreased muscle tone (flaccidity)
Bilateral, symmetric, ascending (lower limbs affected before upper limbs) paralysis that is more marked in proximal than in distal muscles... | [
"S Bendahhou, TR Cummins, AF Hahn, S Langlois, SG Waxman, LJ Ptácek. A double mutation in families with periodic paralysis defines new aspects of sodium channel slow inactivation.. J Clin Invest 2000;106:431-8",
"A Bergareche, M Bednarz, E Sánchez, CE Krebs, J Ruiz-Martinez, P De La Riva, V Makarov, A Gorostidi, ... | 30/4/2002 | 26/7/2018 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
hps | hps | [
"AP-3 complex subunit beta-1",
"AP-3 complex subunit delta-1",
"Biogenesis of lysosome-related organelles complex 1 subunit 3",
"Biogenesis of lysosome-related organelles complex 1 subunit 5",
"Biogenesis of lysosome-related organelles complex 1 subunit 6",
"BLOC-2 complex member HPS3",
"BLOC-2 complex ... | Hermansky-Pudlak Syndrome | Wendy J Introne, Marjan Huizing, May Christine V Malicdan, Kevin J O'Brien, William A Gahl | Summary Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, and/or immunodeficiency. Ocular findings include nystagmus, reduced iris pigment, reduced retinal pigment, foveal hypoplasia with significant re... | ## Diagnosis
Hermansky-Pudlak syndrome (HPS)
Nystagmus, low vision, photophobia, strabismus
Skin and hair color lighter than other family members
Increased bruising, epistaxis, gingival bleeding, and prolonged bleeding after minor procedures (e.g., circumcision, tooth extraction)
Platelet aggregation testing s... | [
"S Ammann, A Schulz, I Krageloh-Mann, NM Dieckmann, K Niethammer, S Fuchs, KM Eckl, R Plank, R Werner, J Altmuller, H Thiele, P Nurnberg, J Bank, A Strauss, H von Bernuth, U Zur Stadt, S Grieve, GM Griffiths, K Lehmberg, HC Hennies, S Ehl. Mutations in AP3D1 associated with immunodeficiency and seizures define a ne... | 24/7/2000 | 16/3/2023 | 25/5/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
hrpt2 | hrpt2 | [
"Hyperparathyroidism-Jaw Tumor Syndrome",
"Familial Isolated Hyperparathyroidism",
"Parathyroid Carcinoma",
"Parafibromin",
"CDC73",
"CDC73-Related Disorders"
] | Catherine M Skefos, Steven G Waguespack, Nancy D Perrier, Mimi I Hu | Summary The spectrum of The diagnosis is established in a proband with a germline heterozygous | Hyperparathyroidism-jaw tumor syndrome
Parathyroid carcinoma
Familial isolated hyperparathyroidism
For synonyms and outdated names see
For other genetic causes of these phenotypes, see
• Hyperparathyroidism-jaw tumor syndrome
• Parathyroid carcinoma
• Familial isolated hyperparathyroidism
## Diagnosis
Primar... | [] | 31/12/2008 | 21/9/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
hsan2 | hsan2 | [
"Hereditary Sensory and Autonomic Neuropathy Type 2 (HSAN2)",
"HSANII",
"HSANII",
"Hereditary Sensory and Autonomic Neuropathy Type 2 (HSAN2)",
"WNK1-Related HSAN2 (HSAN2A)",
"RETREG1-Related HSAN2 (HSAN2B)",
"KIF1A-Related HSAN2 (HSAN2C)",
"SCN9A-Related HSAN2 (HSAN2D)",
"Kinesin-like protein KIF1A... | Hereditary Sensory and Autonomic Neuropathy Type II | Ingo Kurth | Summary Hereditary sensory and autonomic neuropathy type II (HSAN2) is characterized by progressively reduced sensation to pain, temperature, and touch. Onset can be at birth and is often before puberty. The sensory deficit is predominantly distal with the lower limbs more severely affected than the upper limbs. Over t... | For synonyms and outdated names see
For other genetic causes of these phenotypes, see
## Diagnosis
No consensus clinical diagnostic criteria for hereditary sensory and autonomic neuropathy type II (HSAN2) have been published.
Hereditary sensory and autonomic neuropathy type II (HSAN2)
Congenital or early-onset (... | [
"D Chiabrando, M Castori, M di Rocco, M Ungelenk, S Gießelmann, M Di Capua, A Madeo, P Grammatico, S Bartsch, CA Hübner, F Altruda, L Silengo, E Tolosano, I Kurth. Mutations in the heme exporter FLVCR1 cause sensory neurodegeneration with loss of pain perception.. PLoS Genet. 2016;12",
"JJ Cox, CG Woods, I Kurth.... | 23/11/2010 | 1/4/2021 | 3/11/2011 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
hsan4 | hsan4 | [
"Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV)",
"Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV)",
"High affinity nerve growth factor receptor",
"NTRK1",
"NTRK1 Congenital Insensitivity to Pain with Anhidrosis"
] | Yasuhiro Indo | Summary The diagnosis of For AR inheritance, once the For uniparental isodisomy, once the | ## Diagnosis
Impaired perception of pain:
In infants. Biting of the tongue, lips, or fingers after the first teeth erupt
In older individuals. Repeated traumatic injuries including bruising, bone fractures, and painless joint dislocations often associated with neurogenic arthropathy (Charcot joint) of the knees an... | [
"A Amano, S Akiyama, M Ikeda, I Morisaki. Oral manifestations of hereditary sensory and autonomic neuropathy type IV. Congenital insensitivity to pain with anhidrosis.. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1998;86:425-31",
"S Amano, S Fukuoda, T Usui, N Honda, R Ideta, M Ochiai, S Yamagami, M Araie, ... | 5/8/2008 | 30/4/2020 | 24/11/2009 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
hsn1 | hsn1 | [
"Hereditary Sensory and Autonomic Neuropathy Type IA",
"Hereditary Sensory Neuropathy Type IA",
"HSAN1A",
"HSN1A",
"Hereditary Sensory and Autonomic Neuropathy Type IA",
"Hereditary Sensory Neuropathy Type IA",
"HSAN1A",
"HSN1A",
"Serine palmitoyltransferase 1",
"SPTLC1",
"SPTLC1-Related Heredit... | Garth A Nicholson | Summary The diagnosis of | ## Diagnosis
Initial sensory neuropathy that then becomes a motor and sensory axonal neuropathy
Painless injuries in the feet and hands with skin ulceration, Charcot joints, sometimes amputations
Distal muscle weakness that spreads proximally producing limb girdle weakness in advanced stages
At some stage, occurren... | [] | 23/9/2002 | 21/11/2018 | 2/12/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
hsp | hsp | [
"Strumpell-Lorrain Syndrome",
"Uncomplicated Hereditary Spastic Paraparesis",
"Strumpell-Lorrain Syndrome",
"Uncomplicated Hereditary Spastic Paraparesis",
"ENTPD1-Related Neurodevelopmental Disorder",
"60 kDa heat shock protein, mitochondrial",
"Acetyl-coenzyme A transporter 1",
"AP-5 complex subunit... | Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview | Peter Hedera | Summary The purpose of this overview is to: Briefly describe the Review the Review the Provide an Review Inform | ## Clinical Characteristics of Uncomplicated Hereditary Spastic Paraplegia
The predominant manifestations of uncomplicated (pure) hereditary spastic paraplegia (HSP) are progressive bilateral lower-extremity spasticity (maximal in hamstrings, quadriceps, adductors, and gastrocnemius-soleus muscles) and weakness (maxi... | [] | 15/8/2000 | 5/6/2025 | 11/2/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
hunter | hunter | [
"Hunter Syndrome",
"Iduronate-2-Sulfatase Deficiency",
"MPS II",
"Hunter Syndrome",
"MPS II",
"Iduronate-2-Sulfatase Deficiency",
"Iduronate 2-sulfatase",
"IDS",
"Mucopolysaccharidosis Type II"
] | Mucopolysaccharidosis Type II | Maurizio Scarpa, Christina Lampe | Summary Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) is an X-linked multisystem disorder characterized by glycosaminoglycan (GAG) accumulation. The vast majority of affected individuals are male; on rare occasion heterozygous females manifest findings. Age of onset, disease severity, and rate o... | ## Diagnosis
The diagnosis of mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) cannot be established on clinical findings alone. Clinical and radiographic findings vary widely, and the evolution of manifestations is often a better indicator of the diagnosis of MPS II. Recommendations for establish... | [] | 6/11/2007 | 16/1/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
huntington | huntington | [
"Huntington Chorea",
"Huntington Chorea",
"Huntingtin",
"HTT",
"Huntington Disease"
] | Huntington Disease | Nicholas S Caron, Galen EB Wright, Michael R Hayden | Summary Huntington disease (HD) is a progressive disorder of motor, cognitive, and psychiatric disturbances. The mean age of onset is 35 to 44 years, and the median survival time is 15 to 18 years after onset. The diagnosis of HD rests on positive family history, characteristic clinical findings, and the detection of a... | ## Diagnosis
Huntington disease (HD)
Progressive motor disability featuring chorea. Voluntary movement may also be affected.
Mental disturbances including cognitive decline, changes in personality, and/or depression
Family history consistent with autosomal dominant inheritance
Note: The appearance and sequence of ... | [] | 23/10/1998 | 11/6/2020 | 30/8/2005 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
huppke-brendel | huppke-brendel | [
"Acetyl-coenzyme A transporter 1",
"SLC33A1",
"Huppke-Brendel Syndrome"
] | Huppke-Brendel Syndrome | Bindu Parayil Sankaran, Shwetha Chiplunkar, VP Vandana, Madhu Nagappa, Periyasamy Govindaraj, AB Taly | Summary Huppke-Brendel syndrome (HBS) is characterized by bilateral congenital cataracts, sensorineural hearing loss, and severe developmental delay. To date, 11 individuals (ten children and one adult) with HBS have been reported in the literature. All children presented in infancy with axial hypotonia; motor delay wa... | ## Diagnosis
Formal diagnostic criteria for Huppke-Brendel syndrome (HBS) have not been established.
HBS
Bilateral congenital cataracts
Nystagmus
Sensorineural hearing loss
Severe developmental delay / intellectual disability and regression of acquired milestones
Hypotonia
Seizures
Poor weight gain and growt... | [] | 13/6/2019 | 3/4/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
husa | husa | [
"Familial Atypical Hemolytic-Uremic Syndrome",
"Familial Atypical Hemolytic-Uremic Syndrome",
"Complement C3",
"Complement factor B",
"Complement factor H",
"Complement factor H-related protein 1",
"Complement factor H-related protein 3",
"Complement factor H-related protein 4",
"Complement factor I... | Genetic Atypical Hemolytic-Uremic Syndrome | Marina Noris, Elena Bresin, Caterina Mele, Giuseppe Remuzzi | Summary Hemolytic-uremic syndrome (HUS) is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. The onset of atypical HUS (aHUS) ranges from the neonatal period to adulthood. Genetic aHUS accounts for an estimated 60% o... | ## Diagnosis
Genetic atypical hemolytic-uremic syndrome (aHUS)
One or more members of the same family have been diagnosed with aHUS at least six months apart and exposure to a common triggering infectious agent has been excluded.
An individual has an HUS relapse even after complete recovery from the presenting episo... | [
"C Loirat, F Fakhouri, G Ariceta, N Besbas, M Bitzan, A Bjerre, R Coppo, F Emma, S Johnson, D Karpman, D Landau, CB Langman, AL Lapeyraque, C Licht, C Nester, C Pecoraro, M Riedl, NC van de Kar, J Van de Walle, M Vivarelli, V Frémeaux-Bacchi. An international consensus approach to the management of atypical hemolyt... | 16/11/2007 | 23/9/2021 | 20/11/2008 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
hyal2-def | hyal2-def | [
"Orofacial Clefting and Cor Triatriatum Sinister Syndrome",
"Orofacial Clefting and Cor Triatriatum Sinister Syndrome",
"Hyaluronidase-2",
"HYAL2",
"HYAL2 Deficiency"
] | HYAL2 Deficiency | James Fasham, Olivia K Wenger, Andrew H Crosby, Emma L Baple | Summary HYAL2 deficiency is characterized by cardiac anomalies, cleft lip and palate (unilateral or bilateral), ophthalmic findings (including mild-to-severe myopia up to −16.75 diopters and increased risk of retinal detachment), hearing loss (typically conductive), and skeletal findings (including pectus excavatum and... | ## Diagnosis
No consensus clinical diagnostic criteria for HYAL2 deficiency have been published.
HYAL2 deficiency
Characteristic facial features (See
Congenital cardiac anomalies (including coarctation of the aorta, mitral/pulmonary valve atresia, hypoplastic left ventricle, tetralogy of Fallot, double outlet rig... | [] | 21/9/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
hyper-card | hyper-card | [
"Actin, alpha cardiac muscle 1",
"Alpha-actinin-2",
"Alpha-protein kinase 3",
"Ankyrin repeat domain-containing protein 1",
"Calreticulin-3",
"Cysteine and glycine-rich protein 3",
"E3 ubiquitin-protein ligase TRIM63",
"Junctophilin-2",
"Krueppel-like factor 10",
"Myomesin-1",
"Myopalladin",
"... | Nonsyndromic Hypertrophic Cardiomyopathy Overview | Allison L Cirino, Nadine Channaoui, Carolyn Ho | Summary The purpose of this overview is to: Define the Review the Review the Provide an Review the Inform | ## Clinical Characteristics of Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy (HCM) is typically defined by the presence of unexplained left ventricular hypertrophy (LVH) with a maximum left ventricular (LV) wall thickness ≥15 mm in adults or an LV wall thickness z score >3 in children [
The diagnosis of HC... | [] | 5/8/2008 | 6/3/2025 | 8/7/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
hyper-ftc | hyper-ftc | [
"Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome (FTC/HHS)",
"HFTC",
"Hyperostosis-Hyperphosphatemia Syndrome",
"Primary Hyperphosphatemic Tumoral Calcinosis",
"Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome (FTC/HHS)",
"HFTC",
"Hyperostosis-Hyperphosphatemia Syn... | Hyperphosphatemic Familial Tumoral Calcinosis | Mary Scott Ramnitz, Rachel I Gafni, Michael T Collins | Summary Hyperphosphatemic familial tumoral calcinosis (HFTC) is characterized by: Ectopic calcifications (tumoral calcinosis) typically found in periarticular soft tissues exposed to repetitive trauma or prolonged pressure (e.g., hips, elbows, and shoulders); and Painful swellings (referred to as hyperostosis) in the a... | ## Diagnosis
Hyperphosphatemic familial tumoral calcinosis (HFTC)
Hyperphosphatemia
Inappropriately increased renal tubular reabsorption of phosphorus (TRP)
Elevated or inappropriately normal 1,25-dihydroxyvitamin D
Renal function and serum calcium levels typically normal
Parathyroid hormone levels tend to be at ... | [
"H Annamunthodo. Calcinosis.. Am J Surg 1960;99:951-5",
"A Benet-Pagès, P Orlik, TM Strom, B Lorenz-Depiereux. An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.. Hum Mol Genet. 2005;14:385-90",
"C Bergwitz, S Banerjee, H Abu-Zahra, H Kaji, A Miyauchi, T Sugimoto, H Jüppner. D... | 1/2/2018 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
hyper-nfj2 | hyper-nfj2 | [
"ADTKD-REN",
"Familial Juvenile Hyperuricemic Nephropathy Type 2 (FJHN2)",
"ADTKD-REN",
"Familial Juvenile Hyperuricemic Nephropathy Type 2 (FJHN2)",
"Renin",
"REN",
"Autosomal Dominant Tubulointerstitial Kidney Disease – REN"
] | Autosomal Dominant Tubulointerstitial Kidney Disease – | Martina Živná, Kendrah Kidd, Stanislav Kmoch, Anthony J Bleyer | Summary The two clinical presentations observed in autosomal dominant tubulointerstitial kidney disease – Childhood/adolescent onset, the more common presentation (caused by Adult onset, the less common presentation (caused by The diagnosis of ADTKD- In all persons with ADTKD- ADTKD- | ## Diagnosis
Consensus clinical diagnostic criteria for autosomal dominant tubulointerstitial kidney disease due to
ADTKD-
Blood pressure that is often borderline low, but usually asymptomatic
Hyperkalemia (serum potassium levels >5 mEq/L, sometimes as high as 6.5 mEq/L) in about 50% of individuals, often present f... | [
"M Abdelwahed, Y Chaabouni, L Michel-Calemard, K Chaabouni, Y Morel, J Hachicha, FA Makni, H Kamoun, L Ammar-Keskes, N Belghith. A novel disease-causing mutation in the Renin gene in a Tunisian family with autosomal dominant tubulointerstitial kidney disease.. Int J Biochem Cell Biol. 2019;117",
"BB Beck, H Trach... | 5/4/2011 | 10/12/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
hyper-pp | hyper-pp | [
"HyperKPP",
"HyperPP",
"HYPP",
"HyperPP",
"HYPP",
"HyperKPP",
"Sodium channel protein type 4 subunit alpha",
"SCN4A",
"Hyperkalemic Periodic Paralysis"
] | Hyperkalemic Periodic Paralysis | Frank Weber | Summary Hyperkalemic periodic paralysis (hyperPP) is characterized by attacks of flaccid limb weakness (which may also include weakness of the muscles of the eyes, throat, breathing muscles, and trunk), hyperkalemia (serum potassium concentration >5 mmol/L) or an increase of serum potassium concentration of at least 1.... | ## Diagnosis
Hyperkalemic periodic paralysis (hyperPP)
History of at least two attacks of flaccid limb weakness (which may also include weakness of the muscles of the eyes, throat, breathing muscles, and trunk)
Onset or worsening of an attack as a result of oral potassium intake
Disease manifestations before age ... | [
"Y Akaba, S Takahashi, Y Sasaki, H Kajino. Successful treatment of normokalemic periodic paralysis with hydrochlorothiazide.. Brain Dev. 2018;40:833-6",
"T Ammar, W Lin, A Higgins, LJ Hayward, JM Renaud. Understanding the physiology of the asymptomatic diaphragm of the M1592V hyperkalemic periodic paralysis mouse... | 18/7/2003 | 1/7/2021 | 11/8/2009 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
hyperchol | hyperchol | [
"Familial Hypercholesterolæmia",
"Hyperlipoproteinemia Type IIA",
"Familial Hypercholesterolæmia",
"Hyperlipoproteinemia Type IIA",
"Apolipoprotein B-100",
"Low density lipoprotein receptor adapter protein 1",
"Low-density lipoprotein receptor",
"Proprotein convertase subtilisin/kexin type 9",
"APOB... | Familial Hypercholesterolemia | Hannah E Ison, Shoa L Clarke, Joshua W Knowles | Summary Familial hypercholesterolemia (FH) is characterized by significantly elevated low-density lipoprotein cholesterol (LDL-C) that leads to atherosclerotic plaque deposition in the coronary arteries and proximal aorta at an early age and increases the risk of premature cardiovascular events such as angina and myoca... | ## Diagnosis
Familial hypercholesterolemia (FH) should be suspected in individuals with the following findings.
Adults (untreated):
Low-density lipoprotein cholesterol (LDL-C) levels >190 mg/dL (>4.9 mmol/L)
Total cholesterol levels >310 mg/dL (>8 mmol/L)
Children/adolescents (untreated):
LDL-C levels >190 mg/d... | [] | 2/1/2014 | 7/7/2022 | 30/1/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
hyperek | hyperek | [
"Glycine receptor subunit alpha-1",
"Glycine receptor subunit beta",
"Sodium- and chloride-dependent glycine transporter 2",
"GLRA1",
"GLRB",
"SLC6A5",
"Hereditary Hyperekplexia",
"Overview"
] | Hereditary Hyperekplexia Overview | Bettina Balint, Rhys Thomas | Summary The goals of this overview on hereditary hyperekplexia (HPX) caused by dysfunction of glycinergic inhibitory transmission is to: Describe the Review the Provide an Review Inform | ## Hereditary Hyperekplexia: Clinical Characteristics
Hereditary hyperekplexia (HPX), an inherited neuronal disorder caused by genetic defects leading to dysfunction of glycinergic inhibitory transmission, is characterized by the clinical core features of exaggerated startle responses to unexpected sensory stimuli an... | [] | 31/7/2007 | 19/12/2019 | 19/5/2009 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
hypo-mcc | hypo-mcc | [
"Hyccin",
"HYCC1",
"Hypomyelination and Congenital Cataract"
] | Hypomyelination and Congenital Cataract | Nicole I Wolf, Roberta Biancheri, Federico Zara, Claudio Bruno, Elisabetta Gazzerro, Andrea Rossi, Marjo S van der Knaap, Carlo Minetti | Summary Hypomyelination and congenital cataract (HCC) is usually characterized by bilateral congenital cataracts and normal psychomotor or only mildly delayed development in the first year of life, followed by slowly progressive neurologic impairment manifest as ataxia, spasticity (brisk tendon reflexes and bilateral e... | ## Diagnosis
Hypomyelination and congenital cataract (HCC)
Bilateral congenital cataracts. One individual had juvenile cataract [
Nystagmus present from the first few weeks of life
Classic presentation shows normal or mildly delayed psychomotor development in the first year of life, followed by slowly progressive... | [] | 14/10/2008 | 14/1/2021 | 27/10/2011 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
hypochondroplasia | hypochondroplasia | [
"Fibroblast growth factor receptor 3",
"FGFR3",
"Hypochondroplasia"
] | Hypochondroplasia | Michael B Bober, Gary A Bellus, Sarah M Nikkel, George E Tiller | Summary Hypochondroplasia is a skeletal dysplasia characterized by short stature; stocky build; disproportionately short arms and legs; broad, short hands and feet; mild joint laxity; and macrocephaly. Radiologic features include shortening of long bones with mild metaphyseal flare; narrowing of the inferior lumbar int... | ## Diagnosis
The clinical and radiologic diagnostic criteria for hypochondroplasia remain controversial for several reasons, including the following:
No single radiologic or clinical feature is unique to hypochondroplasia.
The expression of many of the established diagnostic features in affected individuals is varia... | [
"KS Alatzoglou, PC Hindmarsh, C Brain, J Torpiano, MT Dattani. Acanthosis nigricans and insulin sensitivity in patients with achondroplasia and hypochodroplasia due to FGFR3 mutations.. J Clin Endocrinol Metab. 2009;94:3959-63",
"B Angle, JH Hersh, KM Christensen. Molecularly proven hypochondroplasia with cloverl... | 15/7/1999 | 7/5/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
i-p | i-p | [
"Bloch-Sulzberger Syndrome",
"Bloch-Sulzberger Syndrome",
"NF-kappa-B essential modulator",
"IKBKG",
"Incontinentia Pigmenti"
] | Incontinentia Pigmenti | Angela E Scheuerle, Matilde Valeria Ursini | Summary Incontinentia pigmenti (IP) is a disorder that affects the skin, hair, teeth, nails, eyes, and central nervous system; it occurs primarily in females and on occasion in males. Characteristic skin lesions evolve through four stages: Blistering (birth to age ~4 months) Wart-like rash (for several months) Swirling... | ## Diagnosis
Incontinentia pigmenti (IP)
Note: Though the lesions classically occur in the indicated stages, more than one type of lesion may be present at any time. The locations of the lesions can vary from stage to stage.
Note: (1) The presence of minor criteria supports the clinical diagnosis. (2)
The diagn... | [] | 8/6/1999 | 21/12/2017 | 3/4/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
iahsp | iahsp | [
"Infantile-Onset Ascending Hereditary Spastic Paralysis (IAHSP)",
"Juvenile Primary Lateral Sclerosis (JPLS)",
"Juvenile Amyotrophic Lateral Sclerosis (JALS)",
"Alsin",
"ALS2",
"ALS2-Related Disorder"
] | Richard W Orrell | Summary The diagnosis of | Infantile-onset ascending hereditary spastic paralysis (IAHSP)
Juvenile primary lateral sclerosis (JPLS)
Juvenile amyotrophic lateral sclerosis (JALS)
For other genetic causes of these phenotypes see
• Infantile-onset ascending hereditary spastic paralysis (IAHSP)
• Juvenile primary lateral sclerosis (JPLS)
• Juv... | [
"M Ben Hamida, F Hentati, C Ben Hamida. Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis). Conditions combining a bilateral pyramidal syndrome with limb and bulbar amyotrophy.. Brain 1990;113:347-63",
"R Borg, MF Wismayer, K Bonavia, AF Wismayer, M Vella, JJFA Vugt, BJ Kenna, KP Ke... | 21/10/2005 | 13/5/2021 | 18/4/2013 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
ibm | ibm | [
"Distal Myopathy with Rimmed Vacuoles (DMRV)",
"Hereditary Inclusion Body Myopathy (HIBM)",
"Inclusion Body Myopathy Type 2 (IBM2)",
"Nonaka Myopathy",
"Quadriceps-Sparing Myopathy",
"Distal Myopathy with Rimmed Vacuoles (DMRV)",
"Hereditary Inclusion Body Myopathy (HIBM)",
"Inclusion Body Myopathy Ty... | Nuria Carrillo, May Christine Malicdan, Marjan Huizing | Summary The diagnosis of | ## Diagnosis
Myopathy presenting in young adults with bilateral foot drop caused by anterior tibialis weakness, followed by slowly progressive skeletal muscle weakness. Although there is relative sparing of the quadriceps, they may become affected at late stages of the disease. The clinical picture varies depending ... | [
"H Jónsson, P Sulem, B Kehr, S Kristmundsdottir, F Zink, E Hjartarson, MT Hardarson, KE Hjorleifsson, HP Eggertsson, SA Gudjonsson, LD Ward, GA Arnadottir, EA Helgason, H Helgason, A Gylfason, A Jonasdottir, A Jonasdottir, T Rafnar, M Frigge, SN Stacey, O Th Magnusson, U Thorsteinsdottir, G Masson, A Kong, BV Halld... | 26/3/2004 | 9/4/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
ibmpfd | ibmpfd | [
"IBMPFD",
"Inclusion Body Myopathy with Early-Onset Paget Disease of Bone and/or Frontotemporal Dementia",
"Multisystem Proteinopathy",
"Inclusion Body Myopathy with Early-Onset Paget Disease of Bone and/or Frontotemporal Dementia",
"IBMPFD",
"Heterogeneous nuclear ribonucleoprotein A1",
"Heterogeneous ... | Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia | Virginia Kimonis | Summary Inclusion body myopathy associated with Paget disease of bone (PDB) and/or frontotemporal dementia (IBMPFD) is characterized by adult-onset proximal and distal muscle weakness (clinically resembling a limb-girdle muscular dystrophy syndrome), early-onset PDB, and premature frontotemporal dementia (FTD). Muscle ... | ## Diagnosis
Inclusion body or nonspecific myopathy associated with Paget disease of bone with or without frontotemporal dementia (IBMPFD)
Serum CK concentration is normal to mildly elevated (mean: 195 U/L; range: 40-1145 U/L; normal range: 20-222 U/L).
EMG (electromyogram) shows myopathic changes, and neuropathic c... | [
"E Al-Obeidi, S Al-Tahan, A Surampalli, N Goyal, AK Wang, A Hermann, M Omizo, C Smith, T Mozaffar, V Kimonis. Genotype-phenotype study in patients with valosin-containing protein mutations associated with multisystem proteinopathy.. Clin Genet. 2018;93:119-25",
"A Alvarez, Z Simmons, WK Engel, V Askanas. New auto... | 25/5/2007 | 12/9/2019 | 19/5/2009 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
idednik | idednik | [
"Intellectual Disability, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma Syndrome",
"Keratitis-Ichthyosis-Deafness, Autosomal Recessive (KIDAR) Syndrome",
"MEDNIK Syndrome",
"MEDNIK-like Syndrome",
"Intellectual Disability, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis,... | IDEDNIK Syndrome | Hessa S Alsaif, Fowzan S Alkuraya | Summary IDEDNIK syndrome is characterized by enteropathy, poor weight gain, growth deficiency, skin manifestations (ichthyosis, erythroderma, and keratoderma), sparse hair, global developmental delay, mild-to-severe intellectual disability, and deafness. Additional manifestations can include liver disease, recurrent in... | ## Diagnosis
No consensus clinical diagnostic criteria for IDEDNIK syndrome have been published.
IDEDNIK syndrome
Infantile-onset diarrhea
Poor weight gain and growth deficiency
Skin and hair manifestations: ichthyosis, erythroderma, hyperkeratosis, sparse hair, and alopecia
Global developmental delay
Hypotoni... | [] | 14/11/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
iiae3 | iiae3 | [
"Acute Necrotizing Encephalopathy (ANE1)",
"Acute Necrotizing Encephalopathy (ANE1)",
"E3 SUMO-protein ligase RanBP2",
"RANBP2",
"Susceptibility to Infection-Induced Acute Encephalopathy 3"
] | Susceptibility to Infection-Induced Acute Encephalopathy 3 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY | Derek Neilson | Summary Infection-induced acute encephalopathy 3 (IIAE3) is the susceptibility to recurrent acute necrotizing encephalopathy (ANE) caused by a heterozygous pathogenic variant in IIAE3 is suspected in individuals with typical clinical and MRI findings, and is confirmed in those with a heterozygous pathogenic variant in... | ## Diagnosis
Infection-induced acute encephalopathy 3 (IIAE3) refers to the susceptibility to recurrent acute necrotizing encephalopathy (ANE) caused by mutation of
Infection-induced acute encephalopathy 3 (IIAE3)
No preceding developmental or neurologic defects [
Signs at onset that can be attributed to a viral tr... | [
"G Alper. Acute disseminated encephalomyelitis.. J Child Neurol. 2012;27:1408-25",
"CS Ashtekar, T Jaspan, D Thomas, V Weston, NA Gayatri, WP Whitehouse. Acute bilateral thalamic necrosis in a child with Mycoplasma pneumoniae.. Dev Med Child Neurol 2003;45:634-7",
"H Aydin, E Ozgul, AM Agildere. Acute necrotizi... | 4/12/2014 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
image | image | [
"Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies",
"Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies",
"Cyclin-dependent kinase inhibitor 1C",
"CDKN1C",
"IMAGe Syndrome"
] | IMAGe Syndrome | Samantha A Schrier Vergano, Matthew A Deardorff | Summary IMAGe syndrome is an acronym for the major findings of IUGR; Some type of skeletal abnormality (most commonly delayed bone age and short stature, and occasionally, metaphyseal and epiphyseal dysplasia of varying severity); Adrenal insufficiency often presenting in the first month of life as an adrenal crisis or... | ## Diagnosis
IMAGe syndrome is an acronym for the major findings in this disorder:
No formal clinical diagnostic criteria for IMAGe syndrome have been defined.
IMAGe syndrome
Intrauterine growth restriction (IUGR) *
Postnatal growth deficiency, with variable growth hormone deficiency
Adrenal hypoplasia congenit... | [
"N Amano, H Naoaki, T Ishii, S Narumi, R Hachiya, G Nishimura, T. Hasegawa. Radiological evolution in IMAGe association: a case report.. Am J Med Genet A. 2008;146A:2130-3",
"VA Arboleda, H Lee, R Parnaik, A Fleming, A Banerjee, B Ferraz-de-Souza, EC Délot, IA Rodriguez-Fernandez, D Braslavsky, I Bergadá, EC Dell... | 13/3/2014 | 5/8/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
inad | inad | [
"NBIA2",
"PLA2G6-Related Disorders",
"PLAN",
"PLAN",
"PLA2G6-Related Disorders",
"NBIA2",
"Atypical Neuroaxonal Dystrophy",
"Infantile Neuroaxonal Dystrophy",
"PLA2G6-Related Dystonia-Parkinsonism",
"85/88 kDa calcium-independent phospholipase A2",
"PLA2G6",
"PLA2G6-Associated Neurodegeneratio... | Allison Gregory, Manju A Kurian, Eamonn R Maher, Penelope Hogarth, Susan J Hayflick | Summary Infantile neuroaxonal dystrophy (INAD) Atypical neuroaxonal dystrophy (atypical NAD) INAD usually begins between ages six months and three years with psychomotor regression or delay, hypotonia, and progressive spastic tetraparesis. Many affected children never learn to walk or lose the ability shortly after att... | Infantile neuroaxonal dystrophy (INAD)
Atypical neuroaxonal dystrophy (atypical NAD)
For synonyms and outdated names see
For other genetic causes of these phenotypes see
• Infantile neuroaxonal dystrophy (INAD)
• Atypical neuroaxonal dystrophy (atypical NAD)
## Diagnosis
Infantile neuroaxonal dystrophy (INAD)
A... | [
"A Al-Maawali, G Yoon, AS Feigenbaum, WC Halliday, JT Clarke, HM Branson, BL Banwell, D Chitayat, SI Blaser. Validation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysis.. Neuroradiology 2016;58:1035-42",
"I Baburina, S Jackowski. Cellular responses to exce... | 19/6/2008 | 23/3/2017 | 19/3/2015 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
inppl1-opsmd | inppl1-opsmd | [
"Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2",
"INPPL1",
"INPPL1-Related Opsismodysplasia"
] | Samuel Huang, Dawn Earl, Klane White | Summary The diagnosis of | ## Diagnosis
Prenatal-onset disproportionate short stature with short limbs
Characteristic facial features (relative macrocephaly, prominent forehead, midface retrusion, depressed nasal bridge, short nose, anteverted nares, and a relatively long philtrum)
Narrow thorax
Small hands and feet
Respiratory insufficie... | [] | 12/6/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
insr-ir | insr-ir | [
"Rabson-Mendenhall Syndrome",
"Donohue Syndrome",
"Insulin receptor",
"INSR",
"INSR-Related Severe Insulin Resistance Syndrome"
] | Aviv Mesika, Aharon Klar, Tzipora C Falik Zaccai | Summary Donohue syndrome is characterized by severe insulin resistance (hyperinsulinemia with associated fasting hypoglycemia and postprandial hyperglycemia), severe prenatal growth restriction, postnatal growth failure, hypotonia, developmental delay, characteristic facies (proptosis, infraorbital folds, large, low-se... | Donohue syndrome
Rabson-Mendenhall syndrome
For synonyms, see
• Donohue syndrome
• Rabson-Mendenhall syndrome
## Diagnosis
Progressive intrauterine growth restriction (IUGR) from the early third trimester and postnatal poor weight gain, growth deficiency, and reduced subcutaneous fat
Dysmorphic facial features... | [] | 25/1/2018 | 25/4/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
ipa | ipa | [
"AH receptor-interacting protein",
"AIP",
"AIP Familial Isolated Pituitary Adenomas"
] | Márta Korbonits, Laura C Hernández-Ramírez | Summary The diagnosis of In symptomatic individuals: annual clinical assessment and pituitary function tests (serum IGF-1, spot GH, prolactin, estradiol/testosterone, LH, FSH, TSH, thyroxine, and morning cortisol); if indicated, annual dynamic testing to evaluate for hormone excess or deficiency (e.g., glucose toleranc... | ## Diagnosis
A pituitary neuroendocrine tumor (PitNET) diagnosed before age 18 years, especially a growth hormone (GH)-secreting PitNET, regardless of family history
A pituitary macroadenoma (tumor >10 mm in diameter) diagnosed before age 30 years, especially a GH-secreting PitNET, regardless of family history
A pro... | [] | 21/6/2012 | 16/1/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
ipex | ipex | [
"Immunodeficiency, Polyendocrinopathy, and Enteropathy X-Linked Syndrome",
"Immunodeficiency, Polyendocrinopathy, and Enteropathy X-Linked Syndrome",
"Forkhead box protein P3",
"FOXP3",
"IPEX Syndrome"
] | IPEX Syndrome | Queenie K-G Tan, Raymond J Louie, John W Sleasman | Summary IPEX ( The diagnosis is established in a male proband with typical clinical findings, absent regulatory T cells (Treg) in blood or tissues, decreased numbers of FOXP3-expressing T cells in peripheral blood determined by flow cytometry (although FOXP3 levels in Treg can be normal in some individuals), and a hemi... | ## Diagnosis
The term "IPEX" is an acronym for
IPEX syndrome
Elevated serum concentration of immunoglobulin E (IgE), and in some individuals elevated serum concentration of IgA
Eosinophilia
Autoimmune anemia, thrombocytopenia, and/or neutropenia
Autoantibodies to pancreatic islet antigens, thyroid antigens, sma... | [] | 19/10/2004 | 1/2/2024 | 27/4/2006 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
irf2bpl-dis | irf2bpl-dis | [
"NEDAMSS (Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss of Speech, and Seizures)",
"IRF2BPL Mutation Syndrome",
"NEDAMSS (Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss of Speech, and Seizures)",
"IRF2BPL Mutation Syndrome",
"Probable E3 ubiquitin-protein ligas... | Tomas Vanagunas, Elizabeth Ulm Seiwert, Travis R Larsh, Paul C Marcogliese, Loren DM Pena | Summary The diagnosis of | ## Diagnosis
Mild-to-profound developmental delay (Developmental regression has been described in 50% of individuals.)
Intellectual disability
Epilepsy (generalized tonic-clonic, myoclonic [with photoparoxsymal response], absence, focal tonic-clonic, complex partial, infantile spasms, and/or atonic seizures)
Move... | [] | 21/11/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
isca1-mmds | isca1-mmds | [
"Multiple Mitochondrial Dysfunctions Syndrome 5",
"Multiple Mitochondrial Dysfunctions Syndrome 5",
"Iron-sulfur cluster assembly 1 homolog, mitochondrial",
"ISCA1",
"ISCA1-Related Multiple Mitochondrial Dysfunctions Syndrome"
] | Anju Shukla, Dhanya Lakshmi Narayanan, Parneet Kaur, Katta Mohan Girisha | Summary The diagnosis of | ## Diagnosis
Early-infantile onset and progressive neurologic deterioration
Early-onset seizures, often developing before age six months
Incessant cry
Spasticity
Exaggerated deep tendon reflexes
Early death
Nystagmus
Pigmentary retinopathy
Diffuse bilateral symmetric signal abnormality in the deep cerebr... | [
"AD Sheftel, C Wilbrecht, O Stehling, B Niggemeyer, HP Elsasser, U Muhlenhoff, R Lill. The human mitochondrial ISCA1, ISCA2, and IBA57 proteins are required for [4Fe-4S] protein maturation.. Molec Biol Cell. 2012;23:1157-66",
"A Shukla, M Hebbar, A Srivastava, R Kadavigere, P Upadhyai, A Kanthi, O Brandau, S Biel... | 3/10/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
isca2-mt-dis | isca2-mt-dis | [
"Multiple Mitochondrial Dysfunction Syndrome 4",
"Multiple Mitochondrial Dysfunction Syndrome 4",
"Iron-sulfur cluster assembly 2 homolog, mitochondrial",
"ISCA2",
"ISCA2-Related Mitochondrial Disorder"
] | Zuhair N Al-Hassnan, Namik Kaya | Summary Infants with The diagnosis of | ## Diagnosis
IRMD
Progressive loss of developmental milestones, typically beginning between ages three and seven months
Spasticity
Impaired speech
Optic atrophy
Nystagmus
Diffuse bilateral symmetric signal abnormality in cerebral white matter
In some cases, signal abnormalities in the corpus callosum, int... | [
"JT Alaimo, A Besse, CL Alston, K Pang, V Appadurai, M Samanta, P Smpokou, R McFarland, RW Taylor, PE Bonnen. Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion.. Hum Mutat. 2018;39:537-49",
"AM Alazami, N Patel, HE Shamse... | 22/2/2018 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
iso-def | iso-def | [
"Sulfocysteinuria",
"Sulfocysteinuria",
"Sulfite oxidase, mitochondrial",
"SUOX",
"Isolated Sulfite Oxidase Deficiency"
] | Isolated Sulfite Oxidase Deficiency | Parayil Sankaran Bindu, Madhu Nagappa, Rose Dawn Bharath, Arun B Taly | Summary The spectrum of isolated sulfite oxidase deficiency ranges from classic early-onset (severe) disease to late-onset (mild) disease. Laboratory findings that suggest the diagnosis of ISOD are dipstick positive for urinary sulfite, elevated urinary thiosulfate and S-sulfocysteine, low urinary organic sulfate, and ... | ## Diagnosis
Intractable seizures and feeding difficulties in the first few hours to days of life
Progressive encephalopathy manifest as abnormal tone (especially opisthotonus, spastic quadriplegia, and pyramidal signs)
Progressive microcephaly
Profound intellectual disability
Dysmorphic facial features: long fa... | [
"SN Basheer, PJ Waters, CW Lam, C Acquaviva-Bourdain, G Hendson, K Poskitt, J Hukin. Isolated sulfite oxidase deficiency in the newborn: lactic acidaemia and leukoencephalopathy.. Neuropediatrics. 2007;38:38-41",
"PS Bindu, R Christopher, A Mahadevan, RD Bharath. Clinical and imaging observations in isolated sulf... | 21/9/2017 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
isovaleric-a | isovaleric-a | [
"Classic Isovaleric Aciduria",
"Isovaleryl-Coenzyme A Dehydrogenase Deficiency",
"Classic Isovaleric Aciduria",
"Isovaleryl-Coenzyme A Dehydrogenase Deficiency",
"Isovaleryl-CoA dehydrogenase, mitochondrial",
"IVD",
"Classic Isovaleric Acidemia"
] | Classic Isovaleric Acidemia | Ulrike Mütze, Anna Reischl-Hajiabadi, Stefan Kölker | Summary Individuals with clinical manifestations of isovaleric acidemia (IVA) have either classic IVA identified on newborn screening or classic IVA with a later diagnosis due to a missed diagnosis or later onset of clinical manifestations. Classic IVA is characterized by acute metabolic decompensations (vomiting, poor... | ## Diagnosis
NBS for classic isovaleric acidemia (IVA) is based on the quantification of the first-tier analyte isovalerylcarnitine (as C5-carnitine) in dried blood spots.
C5-carnitine (C5) values above the cutoff reported by the screening laboratory are considered positive and suggest a diagnosis of classic IVA; add... | [] | 14/3/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
issd | issd | [
"Severe FSASD (Infantile Free Sialic Acid Storage Disease; ISSD)",
"Less Severe FSASD (Salla Disease)",
"Intermediate Severe FSASD",
"Sialin",
"SLC17A5",
"Free Sialic Acid Storage Disorder"
] | Free Sialic Acid Storage Disorder | David Adams, Marjan Huizing, Melissa Wasserstein | Summary Free sialic acid storage disorder (FSASD) is a spectrum of neurodegenerative phenotypes resulting from increased lysosomal storage of free sialic acid. Less severe FSASD (historically called Salla disease) is characterized by normal appearance and absence of neurologic findings at birth, followed by slowly prog... | Less severe FSASD (historically referred to as Salla disease)
Intermediate severe FSASD
Severe FSASD (historically referred to as infantile free sialic acid storage disease; ISSD)
For synonyms and outdated names see
• Less severe FSASD (historically referred to as Salla disease)
• Intermediate severe FSASD
• Seve... | [] | 13/6/2003 | 26/6/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
jh | jh | [
"Hemochromatosis Type 2",
"Juvenile Hereditary Hemochromatosis",
"Juvenile Hereditary Hemochromatosis",
"Hemochromatosis Type 2",
"Hemojuvelin",
"Hepcidin",
"HAMP",
"HJV",
"Juvenile Hemochromatosis"
] | Juvenile Hemochromatosis | Alberto Piperno, Francesca Bertola, Angela Bentivegna | Summary Juvenile hemochromatosis is characterized by onset of severe iron overload occurring typically in the first to third decades of life. Males and females are equally affected. Prominent clinical features include hypogonadotropic hypogonadism, cardiomyopathy, glucose intolerance and diabetes, arthropathy, and live... | ## Diagnosis
Juvenile hemochromatosis
Less specific symptoms in the first decade (e.g., fatigue, arthralgia, lack of appetite), which are often erroneously attributed to iron deficiency anemia
Decreased libido, impotence (males), and amenorrhea (females) in adolescents and/or young adults suggesting hypogonadotropic... | [
"PC Adams, JC Barton. How I treat hemochromatosis.. Blood. 2010;116:317-25",
"KJ Allen, NA Bertalli, NJ Osborne, CC Constantine, MB Delatycki, AE Nisselle, AJ Nicoll, DM Gertig, CE McLaren, GG Giles, JL Hopper, GJ Anderson, JK Olynyk, LW Powell, LC Gurrin. HealthIron Study Investigators. HFE Cys282Tyr homozygotes... | 17/2/2005 | 9/1/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
jln | jln | [
"JLNS",
"JLNS",
"Surdo Cardiac Syndrome",
"Potassium voltage-gated channel subfamily E member 1",
"Potassium voltage-gated channel subfamily KQT member 1",
"KCNE1",
"KCNQ1",
"Jervell and Lange-Nielsen Syndrome"
] | Jervell and Lange-Nielsen Syndrome | Lisbeth Tranebjærg, Ricardo A Samson, Glenn Edward Green | Summary Jervell and Lange-Nielsen syndrome (JLNS) is characterized by congenital profound bilateral sensorineural hearing loss and long QTc, usually >500 msec. Prolongation of the QTc interval is associated with tachyarrhythmias, including ventricular tachycardia, episodes of The diagnosis of JLNS is established in a c... | ## Diagnosis
Jervell and Lange-Nielsen syndrome (JLNS)
Profound congenital sensorineural deafness
Long QTc interval (>500 msec), often manifest as syncope, most often elicited by emotion or exercise. Note: Normal QTc interval in males is <440 msec and in post-pubertal females is <460 msec.
The diagnosis of JLNS
No... | [] | 29/7/2002 | 17/8/2017 | 13/1/2003 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
jmc | jmc | [
"Jansen Disease",
"Jansen Metaphyseal Dysplasia",
"Murk Jansen Metaphyseal Chondrodysplasia",
"PTH1R-Related Metaphyseal Dysplasia, Jansen Type",
"Jansen Disease",
"Jansen Metaphyseal Dysplasia",
"Murk Jansen Metaphyseal Chondrodysplasia",
"PTH1R-Related Metaphyseal Dysplasia, Jansen Type",
"Parathy... | Fiona Obiezu, Alison Boyce, Harald Jüppner, Smita Jha | Summary The diagnosis of | ## Diagnosis
No consensus clinical diagnostic criteria for
Growth deceleration of postnatal onset or severe short-limb short stature
Skeletal deformities: short limbs, swelling of the joints of the extremities, bowing of the lower extremities (see
History of kidney stones
Craniofacial features: scaphocephaly, pr... | [] | 10/7/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
joubert | joubert | [
"JBTS",
"Joubert Syndrome and Related Disorders (JSRD)",
"JBTS",
"Joubert Syndrome and Related Disorders (JSRD)",
"Varadi-Papp Syndrome",
"COACH Syndrome",
"Arima Syndrome",
"ADP-ribosylation factor-like protein 13B",
"B9 domain-containing protein 1",
"B9 domain-containing protein 2",
"C2 domain... | Joubert Syndrome | Ian A Glass, Jennifer C Dempsey, Melissa Parisi, Dan Doherty | Summary The purpose of this overview is to: Briefly describe the Review the Provide Review Inform | ## Clinical Characteristics of Joubert Syndrome
Joubert syndrome (JS) is, with rare exceptions, an autosomal recessive neurodevelopmental disorder defined by a characteristic cerebellar and brain stem malformation recognizable on axial brain magnetic resonance imaging (MRI) as the "molar tooth sign" (MTS). Clinically... | [] | 9/7/2003 | 13/3/2025 | 11/4/2013 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
jpd | jpd | [
"PARK-Parkin",
"PRKN Parkinson Disease",
"PRKN Parkinson Disease",
"PARK-Parkin",
"E3 ubiquitin-protein ligase parkin",
"PRKN",
"Parkin Type of Early-Onset Parkinson Disease"
] | Parkin Type of Early-Onset Parkinson Disease | Norbert Brüggemann, Christine Klein | Summary Parkin type of early-onset Parkinson disease (PARK- The diagnosis of PARK- PARK- | ## Diagnosis
Parkin type of early-onset Parkinson disease (PARK-
Onset before age 40 years in most individuals (median age: 31 years; range: 3-81 years) or, rarely, juvenile onset (age <20 years).
Lower-limb dystonia (may be a presenting sign or may occur during disease progression), which sometimes remains an iso... | [] | 17/4/2001 | 23/4/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
jps | jps | [
"Juvenile Polyposis Syndrome / Hereditary Hemorrhagic Telangiectasia (JPS/HHT)",
"Bone morphogenetic protein receptor type-1A",
"Mothers against decapentaplegic homolog 4",
"BMPR1A",
"SMAD4",
"Juvenile Polyposis Syndrome"
] | Juvenile Polyposis Syndrome | Joy Larsen Haidle, Suzanne P MacFarland, James R Howe | Summary Juvenile polyposis syndrome (JPS) is characterized by predisposition to hamartomatous polyps in the gastrointestinal (GI) tract, specifically in the stomach, small intestine, colon, and rectum. The term "juvenile" refers to the type of polyp rather than to the age of onset of polyps. Most individuals with JPS h... | Juvenile polyposis syndrome (JPS)
Juvenile polyposis syndrome / hereditary hemorrhagic telangiectasia (JPS/HHT)
For synonyms and outdated names see
• Juvenile polyposis syndrome (JPS)
• Juvenile polyposis syndrome / hereditary hemorrhagic telangiectasia (JPS/HHT)
## Diagnosis
Juvenile polyposis syndrome (JPS)
... | [
"MI Achatz, CC Porter, L Brugières, H Druker, T Frebourg, WD Foulkes, CP Kratz, RP Kuiper, JR Hansford, HS Hernandez, KL Nathanson, WK Kohlmann, L Doros, K Onel, KW Schneider, SR Scollon, U Tabori, GE Tomlinson, DGR Evans, SE Plon. Cancer screening recommendations and clinical management of inherited gastrointestin... | 13/5/2003 | 3/2/2022 | 3/12/2015 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
kabuki | kabuki | [
"Kabuki Make-Up Syndrome",
"Niikawa-Kuroki Syndrome",
"Kabuki Make-Up Syndrome",
"Niikawa-Kuroki Syndrome",
"Histone-lysine N-methyltransferase 2D",
"Lysine-specific demethylase 6A",
"KDM6A",
"KMT2D",
"Kabuki Syndrome"
] | Kabuki Syndrome | Margaret P Adam, Mark Hannibal | Summary Kabuki syndrome (KS) is characterized by typical facial features (long palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows; short columella with depressed nasal tip; large, prominent, or cupped ears), minor skeletal anomalies, persistence of fetal fingertip pads,... | ## Diagnosis
Consensus clinical diagnostic criteria for Kabuki syndrome (KS) have been published [
KS
Typical facial features:
Long palpebral fissures with eversion of the lateral third of the lower eyelid
Highly arched and broad eyebrows with the lateral third displaying sparseness or notching
Short columella ... | [] | 1/9/2011 | 28/2/2019 | 14/8/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
kagami-ogata | kagami-ogata | [
"KOS14",
"KOS14",
"Kagami-Ogata Syndrome"
] | Kagami-Ogata Syndrome | Tsutomu Ogata, Masayo Kagami | Summary Kagami-Ogata syndrome is characterized by developmental delay, intellectual disability, feeding difficulty with impaired swallowing, full cheeks, prominent and deep philtrum, small bell-shaped thorax with coat-hanger appearance of the ribs, and abdominal wall defects (omphalocele and diastasis recti). Additiona... | ## Diagnosis
No consensus clinical diagnostic criteria for Kagami-Ogata syndrome have been published.
Kagami-Ogata syndrome
Full cheeks and prominent and deep philtrum (See
Small bell-shaped thorax with coat-hanger appearance of the ribs (See
Note: Coat-hanger angle is increased from mid-gestation through childh... | [] | 24/10/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
kat6b-dis | kat6b-dis | [
"Say-Barber-Biesecker variant of Ohdo syndrome (SBBYSS)",
"Genitopatellar syndrome (GPS)",
"Histone acetyltransferase KAT6B",
"KAT6B",
"KAT6B Disorders"
] | Gabrielle Lemire, Philippe M Campeau, Brendan H Lee | Summary The diagnosis of a | Genitopatellar syndrome (GPS)
Say-Barber-Biesecker variant of Ohdo syndrome (SBBYSS)
For synonyms and outdated names see
For other genetic causes of these phenotypes see
• Genitopatellar syndrome (GPS)
• Say-Barber-Biesecker variant of Ohdo syndrome (SBBYSS)
## Diagnosis
A
Features Suggestive of GPS
Genital an... | [
"RA Bashir, A Dixit, C Goedhart, JS Parboosingh, AM Innes, P Ferreira, PB Au. Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders.. Am J Med Genet A. 2017;173:2596-604",
"LG Biesecker. The Ohdo blepharophimosis syndrome: a third case.. J Med Genet. 1991;28:131-4",
"PM Campe... | 13/12/2012 | 2/1/2020 | 10/1/2013 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
kbgs | kbgs | [
"Ankyrin repeat domain-containing protein 11",
"ANKRD11",
"KBG Syndrome"
] | KBG Syndrome | Dayna Morel Swols, Mustafa Tekin | Summary KBG syndrome is typically characterized by macrodontia (especially of the upper central incisors), characteristic facial features (triangular face, brachycephaly, synophrys, widely spaced eyes, broad or bushy eyebrows, prominent ears, prominent nasal bridge, bulbous nose, anteverted nares, long philtrum, and th... | ## Diagnosis
While no consensus clinical diagnostic criteria for KBG syndrome have been published, several authors have suggested diagnostic criteria [
KBG syndrome
At least two of the findings highlighted by an asterisk (*); OR
One finding highlighted by an asterisk and at least two additional findings.
Conduct... | [
"F Brancati, MG D'Avanzo, MC Digilio, A Sarkozy, M Biondi, D De Brasi, R Mingarelli, B Dallapiccola. KBG syndrome in a cohort of Italian patients.. Am J Med Genet A. 2004;131:144-9",
"M Crippa, D Rusconi, C Castronovo, I Bestetti, S Russo, A Cereda, A Selicorni, L Larizza, P Finelli. Familial intragenic duplicati... | 22/3/2018 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
kcnk9-is | kcnk9-is | [
"Birk-Barel Syndrome",
"Birk-Barel Syndrome",
"Potassium channel subfamily K member 9",
"KCNK9",
"KCNK9 Imprinting Syndrome"
] | Neda Zadeh, John M Graham | Summary The diagnosis of the | ## Diagnosis
Consensus clinical diagnostic criteria for the
Congenital central hypotonia and persistent generalized weakness
Severe feeding difficulties, often requiring placement of gastrostomy tube.
Delayed development / intellectual disability
The diagnosis of the
Because the phenotype of the
For an introduct... | [
"Y Bando, T Hirano, Y. Tagawa. Dysfunction of KCNK potassium channels impairs neuronal migration in the developing mouse cerebral cortex.. Cereb Cortex. 2014;24:1017-29",
"O Barel, SA Shalev, R Ofir, A Chone, J Zlotogora, Z Shorer, G Mazor, G Finer, S Khateeb, N Zilberberg, OS Birk. Maternally inherited Birk Bare... | 23/3/2017 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
kcnq3-dis | kcnq3-dis | [
"KCNQ3-Related Self-Limited Familial Infantile Epilepsy (SLFIE)",
"KCNQ3-Related Self-Limited Familial Neonatal Epilepsy (SLFNE)",
"KCNQ3-Related Neurodevelopmental Disorder With or Without Seizures",
"Potassium voltage-gated channel subfamily KQT member 3",
"KCNQ3",
"KCNQ3-Related Disorders"
] | Francesco Miceli, Maria Virginia Soldovieri, Sarah Weckhuysen, Edward C Cooper, Maurizio Taglialatela | Summary In In In The diagnosis of a Once the | For synonyms and outdated names see
For other genetic causes of these phenotypes see
## Diagnosis
Seizures in an otherwise healthy infant with age of onset between two and eight days of life, spontaneously disappearing within the first year of life. The occurrence of a seizure-free interval between birth and the... | [] | 22/5/2014 | 28/9/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
kcnt1-epilepsy | kcnt1-epilepsy | [
"Potassium channel subfamily T member 1",
"KCNT1",
"KCNT1-Related Epilepsy"
] | Tracy Gertler, David Bearden, Arin Bhattacharjee, Gemma Carvill | Summary EIMFS is characterized by seizures, typically focal and asynchronous, beginning in the first six months of life with associated developmental plateau or regression. Autonomic manifestations (e.g., perioral cyanosis, flushing, apnea) are common. Seizures are intractable to multiple anticonvulsants and progress t... | ## Diagnosis
No formal diagnostic criteria for
Normal prenatal course and birth without history, clinical features, or imaging suggestive of traumatic, anoxic, vascular, or infectious injury
Sporadic, asynchronous focal seizures arising independently from either hemisphere with patterns of intracortical "migration" ... | [] | 20/9/2018 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
kennedy | kennedy | [
"Kennedy's Disease",
"SBMA",
"X-Linked Spinal and Bulbar Muscular Atrophy",
"Kennedy's Disease",
"SBMA",
"X-Linked Spinal and Bulbar Muscular Atrophy",
"Androgen receptor",
"AR",
"Spinal and Bulbar Muscular Atrophy"
] | Spinal and Bulbar Muscular Atrophy | Albert La Spada | Summary Spinal and bulbar muscular atrophy (SBMA) is a gradually progressive neuromuscular disorder in which degeneration of lower motor neurons results in muscle weakness, muscle atrophy, and fasciculations in affected males. Affected individuals often show gynecomastia, testicular atrophy, and reduced fertility as a ... | ## Diagnosis
Spinal and bulbar muscular atrophy (SBMA)
Adolescent-onset signs of androgen insensitivity (e.g., gynecomastia)
Post-adolescent onset of:
Spinal lower motor neuron disease with muscle weakness of the limbs or muscle cramps
Bulbar lower motor neuron disease with fasciculations of the tongue, lips, or... | [] | 26/2/1999 | 15/12/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
kindler | kindler | [
"Congenital Bullous Poikiloderma",
"Congenital Bullous Poikiloderma",
"Fermitin family homolog 1",
"FERMT1",
"Kindler Syndrome"
] | Kindler Syndrome | Leila Youssefian, Hassan Vahidnezhad, Jouni Uitto | Summary Kindler syndrome (KS), a rare subtype of inherited epidermolysis bullosa, is characterized by skin fragility and acral blister formation beginning at birth, diffuse cutaneous atrophy, photosensitivity (most prominent during childhood and usually decreasing after adolescence), poikiloderma, diffuse palmoplantar ... | ## Diagnosis
No consensus clinical diagnostic criteria for Kindler syndrome (KS) have been published.
KS
The diagnosis of KS
Note: (1) Per ACMG/AMP variant interpretation guidelines, the terms "pathogenic variants" and "likely pathogenic variants" are synonymous in a clinical setting, meaning that both are cons... | [
"JC Alper, HP Baden, LA Goldsmith. Kindler's syndrome.. Arch Dermatol. 1978;114:457",
"GH Ashton, WH McLean, AP South, N Oyama, FJ Smith, R Al-Suwaid, A Al-Ismaily, DJ Atherton, CA Harwood, IM Leigh, C Moss, B Didona, G Zambruno, A Patrizi, RA Eady, JA McGrath. Recurrent mutations in kindlin-1, a novel keratinocy... | 3/3/2016 | 6/1/2022 | 1/12/2016 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
kleefstra | kleefstra | [
"9q34.3 Microdeletion Syndrome",
"9qSTDS",
"9q Subtelomeric Deletion Syndrome",
"9q Subtelomeric Deletion Syndrome",
"9qSTDS",
"9q34.3 Microdeletion Syndrome",
"Histone-lysine N-methyltransferase EHMT1",
"EHMT1",
"Kleefstra Syndrome"
] | Kleefstra Syndrome | Tjitske Kleefstra, Nicole de Leeuw | Summary Kleefstra syndrome is characterized by intellectual disability, autistic-like features, childhood hypotonia, and distinctive facial features. The majority of individuals function in the moderate-to-severe spectrum of intellectual disability although a few individuals have mild delay and total IQ within low-norm... | ## Diagnosis
Kleefstra syndrome is characterized by intellectual disability, childhood hypotonia, and distinctive facial features. A complex pattern of other findings can also be observed [
Kleefstra syndrome
Intellectual disability, usually moderate to severe and associated with severe speech delay
Distinctive fac... | [
"E Aref-Eshghi, J Kerkhof, VP Pedro, DI Groupe. France, Barat-Houari M, Ruiz-Pallares N, Andrau JC, Lacombe D, Van-Gils J, Fergelot P, Dubourg C, Cormier-Daire V, Rondeau S, Lecoquierre F, Saugier-Veber P, Nicolas G, Lesca G, Chatron N, Sanlaville D, Vitobello A, Faivre L, Thauvin-Robinet C, Laumonnier F, Raynaud M... | 5/10/2010 | 21/3/2019 | 26/1/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
kms | kms | [
"Idiopathic Hypogonadotropic Hypogonadism",
"Isolated Hypogonadotropic Hypogonadism",
"Isolated Hypogonadotropic Hypogonadism",
"Idiopathic Hypogonadotropic Hypogonadism",
"Normosmic Isolated Gonadotropin-Releasing Hormone Deficiency",
"Anosmin-1",
"Chromodomain-helicase-DNA-binding protein 7",
"Coile... | Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency | Ravikumar Balasubramanian, William F Crowley | Summary Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sen... | Normosmic isolated gonadotropin-releasing hormone deficiency
Kallmann syndrome
For synonyms and outdated names see
• Normosmic isolated gonadotropin-releasing hormone deficiency
• Kallmann syndrome
## Diagnosis
Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) can be associated with a normal sense o... | [] | 23/5/2007 | 2/3/2017 | 12/5/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
kmt2b-dystonia | kmt2b-dystonia | [
"KMT2B-Related Dystonia (DYT-KMT2B)",
"KMT2B-Related Neurodevelopmental Disorder (KMT2B-Related NDD)",
"Histone-lysine N-methyltransferase 2B",
"KMT2B",
"KMT2B-Related Disorders"
] | Lucia Abela, Manju Ann Kurian | Summary DYT- The diagnosis of a DYT- | For synonyms and outdated names, see
For other genetic causes of these phenotypes, see
## Diagnosis
No consensus clinical diagnostic criteria for
DYT-
Dystonia
Typical presentation. Early onset, progressive, and often complex (median age: 6 years; range: 0-43 years) [
Atypical presentation. Upper-limb dystonia... | [] | 26/4/2018 | 22/5/2025 | 29/9/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
kmt2e-ndd | kmt2e-ndd | [
"O'Donnell-Luria-Rodan Syndrome (ODLURO)",
"O'Donnell-Luria-Rodan Syndrome (ODLURO)",
"Inactive histone-lysine N-methyltransferase 2E",
"KMT2E",
"KMT2E-Related Neurodevelopmental Disorder"
] | Lynn Pais, Lance Rodan, Anne O'Donnell-Luria | Summary The diagnosis of | ## Diagnosis
No consensus clinical diagnostic criteria for
Mild-to-profound developmental delay (DD) or intellectual disability (ID), although most individuals fall within the mild-to-moderate range
AND
Any of the following features presenting in infancy or childhood:
Generalized hypotonia of infancy
Gastrointe... | [] | 18/4/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
kos | kos | [
"Blepharophimosis-Ptosis-Intellectual Disability (BPID) Syndrome",
"Blepharophimosis-Ptosis-Intellectual Disability (BPID) Syndrome",
"Ubiquitin-protein ligase E3B",
"UBE3B",
"Kaufman Oculocerebrofacial Syndrome"
] | Kaufman Oculocerebrofacial Syndrome | Dana Brabbing-Goldstein, Lina Basel-Salmon | Summary Kaufman oculocerebrofacial syndrome (KOS) is characterized by developmental delay, severe intellectual disability, and distinctive craniofacial features. Most affected children have prenatal-onset microcephaly, hypotonia, and growth deficiency. Feeding issues, ocular abnormalities, hearing impairment, and respi... | ## Diagnosis
No consensus clinical diagnostic criteria for Kaufman oculocerebrofacial syndrome (KOS) have been published.
KOS
Microcephaly
Developmental delay and severe intellectual disability
Growth deficiency (poor weight gain and/or short stature)
Ocular anomalies (microcornea, microphthalmia, coloboma, opt... | [
"MC Ambrozkiewicz, KJ Cuthill, D Harnett, H Kawabe, V Tarabykin. Molecular evolution, neurodevelopmental roles and clinical significance of HECT-type UBE3 E3 ubiquitin ligases.. Cells. 2020;9:2455",
"L Basel-Vanagaite, B Dallapiccola, R Ramirez-Solis, A Segref, H Thiele, A Edwards, MJ Arends, X Miró, JK White, J ... | 20/10/2016 | 28/7/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
kptn-dis | kptn-dis | [
"Macrocephaly, Autistic Features, Seizures, Developmental Delay (MASD) Syndrome",
"Macrocephaly, Autistic Features, Seizures, Developmental Delay (MASD) Syndrome",
"KICSTOR complex protein kaptin",
"KPTN",
"KPTN-Related Disorder"
] | Lettie E Rawlins, Peter B Crino, Philip H Iffland, Andrew H Crosby, Emma L Baple | Summary The diagnosis of | ## Diagnosis
Mild-to-profound intellectual disability
Developmental delay
Postnatal and progressive macrocephaly (onset usually within the first year of life)
Neurobehavioral/psychiatric manifestations associated with autism spectrum disorder (anxiety, stereotypies, hyperactivity, repetitive speech, impaired soci... | [] | 1/8/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
krabbe | krabbe | [
"Galactocerebrosidase Deficiency",
"GALC Deficiency",
"Globoid Cell Leukodystrophy",
"GALC Deficiency",
"Galactosylceramidase Deficiency",
"Globoid Cell Leukodystrophy",
"Galactosylcerebrosidase Deficiency",
"ß-Galactocerebrosidase Deficiency",
"Galactocerebrosidase",
"GALC",
"Krabbe Disease"
] | Krabbe Disease | Joseph J Orsini, Maria L Escolar, Melissa P Wasserstein, Michele Caggana | Summary Krabbe disease comprises a spectrum ranging from infantile-onset disease (i.e., onset of extreme irritability, spasticity, and developmental delay before age 12 months) to later-onset disease (i.e., onset of manifestations after age 12 months and as late as the seventh decade). Although historically 85%-90% of ... | ## Diagnosis
Krabbe disease (also known as galactocerebrosidase [GALC] deficiency) has two major phenotypes that constitute a continuum:
Infantile-onset Krabbe disease (onset <12 months), characterized by progressive neurologic deterioration in infancy and death before age two years (85%-90% of affected individuals)
... | [] | 19/6/2000 | 11/10/2018 | 5/8/2008 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
kss | kss | [
"mtDNA Deletion Syndromes",
"SLSMDS",
"mtDNA Deletion Syndromes",
"SLSMDS",
"Pearson Syndrome",
"Kearns-Sayre Syndrome (KSS)",
"Chronic Progressive External Ophthalmoplegia (CPEO)",
"Leigh Syndrome (mtDNA deletion)",
"CPEO-Plus",
"Kearns-Sayre Syndrome Spectrum",
"Single Large-Scale Mitochondria... | Single Large-Scale Mitochondrial DNA Deletion Syndromes | Amy Goldstein, Marni J Falk | Summary Single large-scale mitochondrial DNA deletion syndromes (SLSMDSs) comprise overlapping clinical phenotypes including Kearns-Sayre syndrome (KSS), KSS spectrum, Pearson syndrome (PS), chronic progressive external ophthalmoplegia (CPEO), and CPEO-plus. Rarely, an SLSMDS can manifest as The diagnosis of an SLSMDS ... | Single Large-Scale Mitochondrial DNA Deletion Syndromes: Phenotypic Spectrum
Kearns-Sayre syndrome (KSS)
KSS spectrum (includes KSS)
Pearson syndrome (also referred to as Pearson marrow-pancreas syndrome)
Chronic progressive external ophthalmoplegia (CPEO)
CPEO-plus
For other genetic causes of this phenotype, see... | [] | 17/12/2003 | 28/9/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
l1cam | l1cam | [
"L1 Disease",
"L1 Disease",
"X-Linked Hydrocephalus with Stenosis of the Aqueduct of Sylvius (HSAS)",
"MASA (Mental Retardation, Adducted Thumbs, Shuffling Gait, Aphasia) Syndrome, Including SPG1 (X-Linked Complicated Hereditary Spastic Paraplegia Type 1)",
"X-Linked Complicated Corpus Callosum Agenesis",
... | L1 Syndrome | Connie Stumpel, Yvonne J Vos | Summary L1 syndrome involves a phenotypic spectrum ranging from severe to mild and includes three clinical phenotypes: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) MASA ( X-linked complicated corpus callosum agenesis Males with HSAS are born with severe hydrocephalus, adducted thumbs, and spas... | X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS)
MASA (
X-linked complicated corpus callosum agenesis
For other genetic causes of these phenotypes see
• X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS)
• MASA (
• X-linked complicated corpus callosum agenesis
## Diagnos... | [
"H Adle-Biassette, P Saugier-Veber, C Fallet-Bianco, AL Delezoide, F Razavi, N Drouot, A Bazin, AM Beaufrère, B Bessières, S Blesson, M Bucourt, D Carles, L Devisme, F Dijoud, B Fabre, C Fernandez, D Gaillard, M Gonzales, F Jossic, M Joubert, N Laurent, B Leroy, L Loeuillet, P Loget, P Marcorelles, J Martinovic, MJ... | 28/4/2004 | 7/1/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
lad-ad | lad-ad | [
"Adult-Onset Autosomal Dominant Leukodystrophy with Autonomic Symptoms",
"Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy",
"Autosomal Dominant Leukodystrophy with Autonomic Symptoms",
"LMNB1-Related ADLD",
"Onset Autosomal Dominant Leukodystrophy with Autonomic Symptoms",
"Autosomal Dominant ... | Raili Raininko, Michael Gosky, Quasar S Padiath | Summary The diagnosis of Neurogenic bladder may require management of urinary retention and/or urgency and recurrent urinary tract infection. Constipation may require good hydration, increased dietary fiber, stool softeners, and/or laxatives. Orthostatic hypotension can be minimized by pharmacologic intervention, compr... | ## Diagnosis
No formal diagnostic criteria exist.
Onset in the fourth to fifth decade of signs and symptoms of autonomic dysfunction including bladder dysfunction, constipation, erectile dysfunction, and postural hypotension
Subsequent onset of motor and cerebellar impairment resulting in spasticity, ataxia, and t... | [
"A Bartoletti-Stella, L Gasparini, C Giacomini, P Corrado, R Terlizzi, E Giorgio, P Magini, M Seri, A Baruzzi, P Parchi, A Brusco, P Cortelli, S. Capellari. Messenger RNA processing is altered in autosomal dominant leukodystrophy.. Hum Mol Genet. 2015;24:2746-56",
"M Bergui, GB Bradac, S Leombruni, G Vaula, G Qua... | 7/1/2016 | 15/7/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
lafora | lafora | [
"Lafora Body Disease",
"Lafora Disease",
"Progressive Myoclonic Epilepsy Type 2 (EPM2)",
"Lafora Body Disease",
"Lafora Disease",
"Progressive Myoclonic Epilepsy Type 2 (EPM2)",
"E3 ubiquitin-protein ligase NHLRC1",
"Laforin",
"EPM2A",
"NHLRC1",
"Progressive Myoclonus Epilepsy, Lafora Type"
] | Progressive Myoclonus Epilepsy, Lafora Type | Berge Minassian | Summary Progressive myoclonus epilepsy, Lafora type (also known as Lafora disease) is characterized by focal occipital seizures presenting as transient blindness or visual hallucinations and fragmentary, symmetric, or generalized myoclonus occurring in previously healthy individuals. Typical age of onset is eight to 19... | ## Diagnosis
No consensus clinical diagnostic criteria for progressive myoclonus epilepsy, Lafora type, also known as Lafora disease, have been published.
Lafora disease
Focal occipital seizures presenting as transient blindness or visual hallucinations
Fragmentary, symmetric, or generalized myoclonus
Generalize... | [] | 28/12/2007 | 23/1/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
lal-def | lal-def | [
"Acid Lipase Deficiency",
"LAL Deficiency",
"LAL Deficiency",
"Acid Lipase Deficiency",
"Wolman Disease",
"Cholesterol Ester Storage Disease",
"Lysosomal acid lipase/cholesteryl ester hydrolase",
"LIPA",
"Lysosomal Acid Lipase Deficiency"
] | Lysosomal Acid Lipase Deficiency | Erin P Hoffman, Marci L Barr, Monica A Giovanni, Michael F Murray | Summary The phenotypic spectrum of lysosomal acid lipase (LAL) deficiency ranges from the infantile-onset form (Wolman disease) to later-onset forms collectively known as cholesterol ester storage disease (CESD). Diagnosis of LAL deficiency is suspected in individuals with characteristic clinical findings such as hepat... | Cholesterol ester storage disease
Wolman disease
For synonyms and outdated names see
For other genetic causes of these phenotypes see
• Cholesterol ester storage disease
• Wolman disease
## Diagnosis
The phenotypic spectrum of lysosomal acid lipase (LAL) deficiency ranges from infantile-onset form (Wolman diseas... | [] | 30/7/2015 | 1/9/2016 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
lathosterolosis | lathosterolosis | [
"Sterol C-5 Desaturase Deficiency",
"Sterol-C5-Desaturase Deficiency",
"SC5D Deficiency",
"SC5D Deficiency",
"Sterol C5-Desaturase Deficiency",
"Sterol-C5-Desaturase Deficiency",
"Lathosterol oxidase",
"SC5D",
"Lathosterolosis"
] | Lathosterolosis | Pankaj Prasun, Jaya Ganesh | Summary Lathosterolosis is characterized by global developmental delays, intellectual disability, microcephaly, characteristic facial features (bitemporal narrowing, sloping forehead, epicanthal folds, ptosis, downslanting palpebral fissures, anteverted nares, broad nasal tip, long philtrum, high-arched palate, and mic... | ## Diagnosis
Lathosterolosis
Global developmental delays
Intellectual disability
Microcephaly
Characteristic facial features, including bitemporal narrowing, sloping forehead, epicanthal folds, ptosis, downslanting palpebral fissures, anteverted nares, broad nasal tip, long philtrum, high-arched palate, and micr... | [] | 7/12/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
lbsl | lbsl | [
"LBSL",
"Mitochondrial Aspartyl-tRNA Synthetase Deficiency",
"LBSL",
"Mitochondrial Aspartyl-tRNA Synthetase Deficiency",
"Aspartate--tRNA ligase, mitochondrial",
"DARS2",
"Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation"
] | Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation | Marc Engelen, Truus EM Abbink, Gajja S Salomons, Marjo S van der Knaap | Summary Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) is characterized by slowly progressive cerebellar ataxia and spasticity with dorsal column dysfunction (decreased position and vibration sense) in most individuals. The neurologic dysfunction involves the legs more than... | ## Diagnosis
Diagnosis of leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) should be suspected in individuals with characteristic abnormalities observed on brain and spinal cord MRI [
See
Signal abnormalities (abnormally low signal on T
Cerebral white matter, which is eit... | [
"L Bonnefond, A Fender, J Rudinger-Thirion, R Giegé, C Florentz, M Sissler. Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS.. Biochemistry 2005;44:4805-16",
"A Budhram, SK Pandey. Activation of cerebral X-linked adrenoleukodystrophy after head trauma.. Ca... | 25/5/2010 | 18/2/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
lca-ov | lca-ov | [
"EOSRD",
"LCA",
"LCA",
"EOSRD",
"Aryl-hydrocarbon-interacting protein-like 1",
"Calcium-binding protein 4",
"Centrosomal protein of 290 kDa",
"Centrosome-associated protein ALMS1",
"Clusterin-associated protein 1",
"Cone-rod homeobox protein",
"Death domain-containing protein 1",
"Growth/diffe... | Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview | Neruban Kumaran, Mark E Pennesi, Paul Yang, Karmen M Trzupek, Catherine Schlechter, Anthony T Moore, Richard G Weleber, Michel Michaelides | Summary The purpose of this overview is to: Describe the Review the Provide an Inform (when possible) Inform | ## Clinical Characteristics of Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy
Leber congenital amaurosis (LCA) / early-onset severe retinal dystrophy (EOSRD) comprises a spectrum of inherited retinal disorders that ranges from LCA at the severe end to EOSRD at the milder end.
The fundus in LCA/EOS... | [] | 4/10/2018 | 23/3/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
lca | lca | [
"LCA",
"LCA",
"Aryl-hydrocarbon-interacting protein-like 1",
"Centrosomal protein of 290 kDa",
"Cone-rod homeobox protein",
"Inosine-5'-monophosphate dehydrogenase 1",
"Inward rectifier potassium channel 13",
"IQ calmodulin-binding motif-containing protein 1",
"Lebercilin",
"Lecithin retinol acylt... | Leber Congenital Amaurosis – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY | Richard G Weleber, Peter J Francis, Karmen M Trzupek, Catie Beattie | Summary Leber congenital amaurosis (LCA), a severe dystrophy of the retina, typically becomes evident in the first year of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia, and keratoconus. Visual acuity is rarely better t... | ## Diagnosis
The form of congenital or early-infantile blindness known as Leber congenital amaurosis (LCA) was first defined by Theodor Leber in 1869 and 1871 on the basis of clinical findings [
Individuals with LCA also frequently exhibit the following:
Sluggish or near-absent pupillary reactions reflecting the sev... | [
"GM Acland, GD Aguirre, J Bennett, TS Aleman, AV Cideciyan, J Bennicelli, NS Dejneka, SE Pearce-Kelling, AM Maguire, K Palczewski, WW Hauswirth, SG Jacobson. Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness.. Mol Ther 2005... | 7/7/2004 | 2/5/2013 | 9/11/2005 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
lchad | lchad | [
"LCHAD deficiency (LCHADD)",
"Long-Chain 3-Hydroxyacyl Coenzyme A Dehydrogenase Deficiency",
"TFP Deficiency (TFPD)",
"Mitochondrial Trifunctional Protein (MTP) Deficiency",
"Trifunctional enzyme subunit alpha, mitochondrial",
"Trifunctional enzyme subunit beta, mitochondrial",
"HADHA",
"HADHB",
"Lo... | Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency | Pankaj Prasun, Mary Kate LoPiccolo, Ilona Ginevic | Summary Long-chain hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and trifunctional protein (TFP) deficiency are caused by impairment of mitochondrial TFP. TFP has three enzymatic activities – long-chain enoyl-CoA hydratase, long-chain 3-hydroxyacyl-CoA dehydrogenase, and long-chain 3-ketoacyl-CoA thiolase. In indivi... | Synonyms and Included Genes
LCHAD deficiency (LCHADD)
Long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency
TFP deficiency (TFPD)
Mitochondrial trifunctional protein (MTP) deficiency
• LCHAD deficiency (LCHADD)
• Long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency
• TFP deficiency (TFPD)
• Mitoc... | [
"S Aradhya, R Lewis, T Bonaga, N Nwokekeh, A Stafford, B Boggs, K Hruska, N Smaoui, JG Compton, G Richard, S Suchy. Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders.. Genet Med. 2012;14:594-603",
"KR Blish, JA Ibdah. Maternal heterozy... | 1/9/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
lds | lds | [
"Forkhead box protein C2",
"FOXC2",
"Lymphedema-Distichiasis Syndrome"
] | Lymphedema-Distichiasis Syndrome | Sahar Mansour, Glen W Brice, Steve Jeffery, Peter Mortimer | Summary Lymphedema-distichiasis syndrome (referred to as LDS in this The clinical diagnosis of LDS is established in a proband with either lymphedema and distichiasis, distichiasis and a family history of lower-limb lymphedema, or lower-limb lymphedema and a family history of distichiasis. If clinical findings are not ... | ## Diagnosis
Lymphedema-distichiasis syndrome (LDS)
Other less frequent findings:
Congenital heart disease including bicuspid aortic valves
Cleft palate ± Pierre Robin sequence
Renal anomalies
Spinal extradural arachnoid cysts
Nonimmune hydrops fetalis
Antenatal hydrothoraces
Neck webbing
The clinical diagnos... | [
"C Bellini, G Donarini, D Paladini, MG Calevo, T Bellini, LA Ramenghi, RC Hennekam. Etiology of non-immune hydrops fetalis: an update.. Am J Med Genet A. 2015;167A:1082-8",
"G Brice. Diagnostic difficulties in lympedema distichiasis.. Pediatr Dermatol 2003;20:89",
"G Brice, S Mansour, R Bell, JR Collin, AH Chil... | 29/3/2005 | 4/4/2019 | 4/1/2007 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
legius | legius | [
"Neurofibromatosis Type 1-Like Syndrome",
"Neurofibromatosis Type 1-Like Syndrome",
"Sprouty-related, EVH1 domain-containing protein 1",
"SPRED1",
"Legius Syndrome"
] | Legius Syndrome | Eric Legius, David Stevenson | Summary Legius syndrome is characterized by multiple café au lait macules without neurofibromas or other tumor manifestations of neurofibromatosis type 1 (NF1). Additional clinical manifestations reported commonly include intertriginous freckling, lipomas, macrocephaly, and learning disabilities / attention-deficit/hyp... | ## Diagnosis
Legius syndrome
Has pigmentary dysplasia consisting of café au lait macules, with or without intertriginous freckling; and
Lacks the nonpigmentary clinical diagnostic manifestations of
The diagnostic criteria for Legius syndrome are met if at least two of the following criteria are present:
Five or mo... | [
"J Ablain, M Xu, H Rothschild, RC Jordan, JK Mito, BH Daniels, CF Bell, NM Joseph, H Wu, BC Bastian, LI Zon, I Yeh. Human tumor genomics and zebrafish modeling identify. Science. 2018;362:1055-60",
"E Benelli, I Bruno, C Belcaro, A Ventura, I. Berti. Legius syndrome: case report and review of literature.. Ital J ... | 14/10/2010 | 6/8/2020 | 12/5/2011 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
leigh-nucl-ov | leigh-nucl-ov | [
"3-hydroxyisobutyryl-CoA hydrolase, mitochondrial",
"4-hydroxyphenylpyruvate dioxygenase-like protein",
"5-taurinomethyluridine-[tRNA] synthase subunit GTPB3, mitochondrial",
"5-taurinomethyluridine-[tRNA] synthase subunit MTO1, mitochondrial",
"All trans-polyprenyl-diphosphate synthase PDSS2",
"Alpha-ket... | Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview | Shamima Rahman, David R Thorburn, Megan Ball | Summary The purpose of this overview is to: Briefly describe the Review the Review the Provide an Review Inform | ## Clinical Characteristics of Nuclear Gene-Encoded Leigh Syndrome Spectrum
Nuclear gene-encoded Leigh syndrome spectrum (LSS) is a continuum of progressive neurodegenerative disorders caused by abnormalities of mitochondrial energy generation.
Onset of nuclear gene-encoded LSS is typically in infancy or early child... | [] | 1/10/2015 | 1/5/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
lenz | lenz | [
"BCL-6 corepressor",
"N-alpha-acetyltransferase 10",
"BCOR",
"NAA10",
"Lenz Microphthalmia Syndrome"
] | Lenz Microphthalmia Syndrome – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY | David Ng | Summary Lenz microphthalmia syndrome (LMS) is characterized by unilateral or bilateral microphthalmia and/or clinical anophthalmia with malformations of the ears, teeth, fingers, skeleton, and/or genitourinary system. Microphthalmia is often accompanied by microcornea and glaucoma. Coloboma is present in approximately... | ## Diagnosis
Lenz microphthalmia syndrome (LMS) should be suspected in males with a combination of the following clinical findings:
Hypospadias, cryptorchidism, renal aplasia/hypoplasia, hydroureter (77% of individuals)
Simple, anteverted, abnormally modeled ears (63%)
Abnormal shape of incisors, irregularly spaced... | [
"T. Arnesen. Protein N-terminal acetylation: NAT 2007-2008 Symposia.. BMC Proc. 2009;3:S1",
"T Esmailpour, H Riazifar, L Liu, S Donkervoort, VH Huang, S Madaan, BM Shoucri, A Busch, J Wu, A Towbin, RB Chadwick, A Sequeira, MP Vawter, G Sun, JJ Johnston, LG Biesecker, R Kawaguchi, H Sun, V Kimonis, T Huang. A spli... | 4/6/2002 | 2/10/2014 | 29/7/2007 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
leopard | leopard | [
"LEOPARD Syndrome",
"Multiple Lentigines Syndrome",
"Multiple Lentigines Syndrome",
"LEOPARD Syndrome",
"Dual specificity mitogen-activated protein kinase kinase 1",
"RAF proto-oncogene serine/threonine-protein kinase",
"Serine/threonine-protein kinase B-raf",
"Tyrosine-protein phosphatase non-recepto... | Noonan Syndrome with Multiple Lentigines | Bruce D Gelb, Marco Tartaglia | Summary Noonan syndrome with multiple lentigines (NSML) is a condition in which the cardinal features consist of lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features including widely spaced eyes and ptosis. Multiple lentigines present as dispersed flat, black-brown ma... | ## Diagnosis
Suggested clinical diagnostic criteria for Noonan syndrome with multiple lentigines (NSML) have been published [
NSML
Lentigines
Cardiac abnormalities, particularly hypertrophic cardiomyopathy
Poor linear growth / short stature
Pectus deformity
Dysmorphic facial features including widely spaced eyes... | [
"P Alfieri, L Cesarini, G Zampino, F Pantaleoni, A Selicorni, A Salerni, I Vasta, M Cerutti, A Dickmann, F Colitto, S Staccioli, C Leoni, D Ricci, C Brogna, M Tartaglia, E. Mercuri. Visual function in Noonan and LEOPARD syndrome.. Neuropediatrics. 2008;39:335-40",
"M Bentires-Alj, JG Paez, FS David, H Keilhack, B... | 30/11/2007 | 30/6/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
leukodys-ov | leukodys-ov | [
"1,4-alpha-glucan-branching enzyme",
"Aldehyde dehydrogenase family 3 member A2",
"Arylsulfatase A",
"Aspartate--tRNA ligase, mitochondrial",
"Aspartoacylase",
"ATP-binding cassette sub-family D member 1",
"Deoxynucleoside triphosphate triphosphohydrolase SAMHD1",
"DNA-directed RNA polymerase III subu... | Leukodystrophy Overview – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY | Adeline Vanderver, Davide Tonduti, Raphael Schiffmann, Johanna Schmidt, Marjo S van der Knaap | Summary Leukodystrophies are heritable myelin disorders affecting the white matter of the central nervous system with or without peripheral nervous system myelin involvement. Involvement of the white matter tracts almost universally leads to motor involvement that manifests as hypotonia in early childhood and progress... | ## Definition of Leukodystrophy
The term "leukodystrophy," as well as associated terms such as "dysmyelination," "demyelination," and "leukoencephalopathy," is applied to a broad group of disorders.
In this
Leukodystrophies share the following findings:
Abnormalities of the glial cell or myelin sheath, such that ne... | [
"L Bezman, AB Moser, GV Raymond, P Rinaldo, PA Watkins, KD Smith, NE Kass, HW Moser. Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening.. Ann Neurol. 2001;49:512-7",
"JL Bonkowsky, C Nelson, JL Kingston, FM Filloux, MB Mundorff, R Srivastava. The burden of inherited leuko... | 6/2/2014 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
lgmd-overview | lgmd-overview | [
"LGMD",
"LGMD",
"Alpha-sarcoglycan",
"Anoctamin-5",
"Beta-sarcoglycan",
"Calpain-3",
"Caveolin-3",
"Delta-sarcoglycan",
"Desmin",
"DnaJ homolog subfamily B member 6",
"Dysferlin",
"E3 ubiquitin-protein ligase TRIM32",
"Fukutin",
"Fukutin-related protein",
"Gamma-sarcoglycan",
"Myotilin... | Limb-Girdle Muscular Dystrophy Overview – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY | Elena Pegoraro, Eric P Hoffman | Summary Limb-girdle muscular dystrophy (LGMD) is a purely descriptive term, generally reserved for childhood- or adult-onset muscular dystrophies that are distinct from the much more common X-linked dystrophinopathies. LGMDs are typically nonsyndromic, with clinical involvement typically limited to skeletal muscle. In... | ## Definition
Limb-girdle muscular dystrophy (LGMD) is a purely descriptive term, generally reserved for childhood- or adult-onset muscular dystrophies that are distinct from the much more common X-linked
At one time, the term LGMD was reserved for individuals with onset of weakness in adolescence or adulthood. More ... | [
"J Amberger, C Bocchini, A Hamosh. A new face and new challanges for online Mendelian Inheritance in Man (OMIM®).. Hum Mutat 2011;32:564-7",
"C Angelini, M Fanin, E Menegazzo, MP Freda, DJ Duggan, EP Hoffman. Homozygous alpha-sarcoglycan mutation in two siblings: one asymptomatic and one steroid-responsive mild l... | 8/6/2000 | 30/8/2012 | 23/7/2009 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
lgmd2a | lgmd2a | [
"CAPN3-Related HyperCKemia",
"Scapulohumeral Limb-Girdle Muscular Dystrophy (Erb LGMD)",
"Pelvifemoral Limb-Girdle Muscular Dystrophy (Leyden-Möbius LGMD)",
"Calpain-3",
"CAPN3",
"Calpainopathy"
] | Calpainopathy | Corrado Angelini | Summary Calpainopathy is characterized by symmetric and progressive weakness of proximal limb-girdle muscles. Clinical findings of calpainopathy include the tendency to walk on tiptoe, difficulty in running, scapular winging, waddling gait, laxity of the abdominal muscles, Achilles tendon shortening, and scoliosis. Aff... | Pelvifemoral limb-girdle muscular dystrophy (Leyden-Möbius LGMD)
Scapulohumeral limb-girdle muscular dystrophy (Erb LGMD)
HyperCKemia
For synonyms and outdated names see
For other genetic causes of these phenotypes see
• Pelvifemoral limb-girdle muscular dystrophy (Leyden-Möbius LGMD)
• Scapulohumeral limb-girdle... | [] | 10/5/2005 | 1/12/2022 | 1/5/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
lhon | lhon | [
"Leber's Disease",
"Leber's Hereditary Optic Neuropathy",
"Leber's Optic Atrophy",
"Leber's Optic Neuropathy",
"LHON",
"LHON",
"Leber's Disease",
"Leber's Optic Atrophy",
"Leber's Optic Neuropathy",
"Leber’s Hereditary Optic Neuropathy",
"ATP synthase F(0) complex subunit a",
"Cytochrome b",
... | Leber Hereditary Optic Neuropathy | Patrick Yu-Wai-Man, Patrick F Chinnery | Summary Leber hereditary optic neuropathy (LHON) typically presents in young adults as bilateral, painless, subacute visual failure. The peak age of onset in LHON is in the second and third decades of life, with 90% of those who lose their vision doing so before age 50 years. Very rarely, individuals first manifest LHO... | ## Diagnosis
No consensus clinical diagnostic criteria for Leber hereditary optic neuropathy (LHON) have been published.
Leber hereditary optic neuropathy (LHON)
Bilateral, painless subacute visual failure that develops during young adult life
Visual acuity is severely reduced to 20/200 or worse in the majority o... | [] | 26/10/2000 | 11/3/2021 | 19/4/2012 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
li-ar | li-ar | [
"Arachidonate 12-lipoxygenase, 12R-type",
"Caspase-14",
"Ceramide synthase 3",
"Glucosylceramide transporter ABCA12",
"Hydroperoxide isomerase ALOXE3",
"Lipase member N",
"Long-chain fatty acid transport protein 4",
"Magnesium transporter NIPA4",
"Omega-hydroxyceramide transacylase",
"Protein-glut... | Autosomal Recessive Congenital Ichthyosis | Gabriele Richard | Summary The purpose of this overview is to: Briefly describe the Review the Review the Provide an Review Inform | ## Clinical Characteristics of Autosomal Recessive Congenital Ichthyosis
Autosomal recessive congenital ichthyoses (ARCI) are lifelong skin disorders with generalized scaling and variable erythema that typically manifest at birth or early infancy. ARCI encompass several forms of nonsyndromic ichthyosis, which vary si... | [] | 10/1/2001 | 20/4/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
li-fraumeni | li-fraumeni | [
"Cellular tumor antigen p53",
"TP53",
"Li-Fraumeni Syndrome"
] | Li-Fraumeni Syndrome | Katherine Schneider, Kristin Zelley, Kim E Nichols, Alison Schwartz Levine, Judy Garber | Summary Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a broad spectrum of cancers including early-onset cancers. Five cancer types account for the majority of LFS tumors: adrenocortical carcinomas, breast cancer, central nervous system tumors, osteosarcomas, and soft-tiss... | ## Diagnosis
Consensus clinical diagnostic criteria for Li-Fraumeni syndrome (LFS) have been published [
LFS
A proband with a tumor belonging to the classic LFS tumor spectrum (e.g., premenopausal breast cancer, soft-tissue sarcoma, osteosarcoma, central nervous system [CNS] tumor, adrenocortical carcinoma [ACC]) be... | [] | 19/1/1999 | 5/9/2024 | 1/5/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
lipoid-p | lipoid-p | [
"Hyalinosis Cutis et Mucosae",
"Urbach-Wiethe Disease",
"Hyalinosis Cutis et Mucosae",
"Urbach-Wiethe Disease",
"Extracellular matrix protein 1",
"ECM1",
"Lipoid Proteinosis"
] | Lipoid Proteinosis | Hassan Vahidnezhad, Leila Youssefian, Jouni Uitto | Summary Lipoid proteinosis (LP) is characterized by deposition of hyaline-like material in various tissues resulting in a hoarse voice from early infancy, vesicles and hemorrhagic crusts in the mouth and on the face and extremities, verrucous and keratotic cutaneous lesions on extensor surfaces (especially the elbows),... | ## Diagnosis
Lipoid proteinosis (LP), which is characterized by deposition of hyaline-like material in the larynx, oral cavity, skin, and internal organs,
First, vesicles and hemorrhagic crusts, often caused by minor trauma or friction, appear in the mouth and on the face and extremities (
Later, with increasing hya... | [
"PM Agredano, CM Del Barrio, MC Martinez, CA Cabrera. Intracranial calcifications associated with epilepsy: a case report of lipoid proteinosis.. Seizure. 2020;83:172-4",
"I An, ME Güldür, M Aksoy, Y Yeşilova, M Ozturk. Histopathological findings in patients with lipoid proteinosis.. Turk J Dermatol. 2019;13:99",... | 21/1/2016 | 22/7/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
lms | lms | [
"Lehman Syndrome",
"Lehman Syndrome",
"Neurogenic locus notch homolog protein 3",
"NOTCH3",
"NOTCH3-Related Lateral Meningocele Syndrome"
] | Resham Ejaz, Melissa Carter, Karen Gripp | Summary The diagnosis of All probands reported to date with | ## Diagnosis
Formal diagnostic clinical criteria for
The diagnosis of
Note: (1) Per ACMG/AMP variant interpretation guidelines, the terms "pathogenic variant" and "likely pathogenic variant" are synonymous in a clinical setting, meaning that both are considered diagnostic and can be used for clinical decision making... | [] | 23/6/2016 | 5/5/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
lns | lns | [
"HGprt Deficiency",
"HPRT Deficiency",
"Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency",
"HGprt Deficiency",
"HPRT Deficiency",
"Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency",
"Lesch-Nyhan Disease (LND)",
"HPRT1-Related Neurologic Dysfunction (HND)",
"HPRT1-Related Hyperurice... | Hyder A Jinnah | Summary The diagnosis of an | Lesch-Nyhan disease (LND)
For synonyms and outdated names see
• Lesch-Nyhan disease (LND)
## Diagnosis
ID = intellectual disability; NA = not applicable; NDD = neurodevelopmental delay
Hyperuricemia is often evident. Serum uric acid concentration greater than 8 mg/dL defines hyperuricemia in adults; however, t... | [
"HF Cakmakli, RJ Torres, A Menendez, G Yalcin-Cakmakli, CC Porter, JG Puig, HA Jinnah. Macrocytic anemia in Lesch-Nyhan disease and its variants.. Genet Med. 2019;21:353-60",
"I Ceballos-Picot, F Auge, R Fu, A Olivier-Bandini, J Cahu, B Chabrol, B Aral, B de Martinville, JP Lecain, HA Jinnah. Phenotypic variation... | 25/9/2000 | 6/8/2020 | 27/1/2009 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
loeys-dietz | loeys-dietz | [
"Loeys-Dietz Aortic Aneurysm Syndrome",
"Loeys-Dietz Aortic Aneurysm Syndrome",
"Importin-8",
"Mothers against decapentaplegic homolog 2",
"Mothers against decapentaplegic homolog 3",
"TGF-beta receptor type-1",
"TGF-beta receptor type-2",
"Transforming growth factor beta-2 proprotein",
"Transformin... | Loeys-Dietz Syndrome | Bart L Loeys, Harry C Dietz | Summary Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, and cervical spine malformation and/or instabil... | ## Diagnosis
No consensus clinical diagnostic criteria for Loeys-Dietz syndrome (LDS) have been published.
LDS
Evaluation is best done with magnetic resonance angiography (MRA) or CT angiogram (CTA) with 3D reconstruction from head to pelvis to identify arterial aneurysms or dissections and arterial tortuosity t... | [] | 28/2/2008 | 12/9/2024 | 29/4/2008 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
lowe | lowe | [
"Oculocerebrorenal Syndrome",
"Oculocerebrorenal Syndrome of Lowe",
"Oculocerebrorenal Syndrome",
"Oculocerebrorenal Syndrome of Lowe",
"Inositol polyphosphate 5-phosphatase OCRL",
"OCRL",
"Lowe Syndrome"
] | Lowe Syndrome | Richard Alan Lewis, Robert L Nussbaum, Eileen D Brewer | Summary Lowe syndrome (oculocerebrorenal syndrome) is characterized by involvement of the eyes, central nervous system, and kidneys. Dense congenital cataracts are found in all affected boys and infantile glaucoma in approximately 50%. All boys have impaired vision; corrected acuity is rarely better than 20/100. Genera... | ## Diagnosis
Lowe syndrome
Bilateral dense congenital cataracts
Infantile congenital hypotonia
Delayed development
Proximal renal tubular transport dysfunction of the Fanconi type characterized by low molecular-weight (LMW) proteinuria (including retinol binding protein, N-acetyl glucosaminidase, and albumin), ami... | [
"F Anglani, L Terrin, M Brugnara, M Battista, V Cantaluppi, M Ceol, L Bertoldi, G Valle, MP Joy, BR Pober, M Longoni. Hypercalciuria and nephrolithiasis: Expanding the renal phenotype of Donnai-Barrow syndrome.. Clin Genet 2018;94:187-8",
"BH Athreya, HR Schumacher, HD Getz, ME Norman, S Borden, CL Witzleben. Art... | 24/7/2001 | 18/4/2019 | 4/1/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
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