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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
fa | fa | [
"Fanconi Pancytopenia",
"Fanconi Pancytopenia",
"Breast cancer type 1 susceptibility protein",
"Breast cancer type 2 susceptibility protein",
"DNA repair endonuclease XPF",
"DNA repair protein RAD51 homolog 1",
"DNA repair protein RAD51 homolog 3",
"DNA repair protein XRCC2",
"E3 ubiquitin-protein l... | Fanconi Anemia | Parinda A Mehta, Christen Ebens | Summary Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upp... | ## Diagnosis
Recommendations for diagnosis were agreed upon at a 2013 consensus conference (see
Fanconi anemia (FA)
Prenatal and/or postnatal short stature
Abnormal skin pigmentation (e.g., café au lait macules, hypopigmentation)
Skeletal malformations (e.g., hypoplastic thumb, hypoplastic radius)
Microcephaly
O... | [] | 14/2/2002 | 3/6/2021 | 8/3/2018 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
fabry | fabry | [
"Alpha-Galactosidase A Deficiency",
"Anderson-Fabry Disease",
"Alpha-Galactosidase A Deficiency",
"Anderson-Fabry Disease",
"Classic Fabry Disease",
"Atypical and Late-Onset Variants of Fabry Disease",
"Alpha-galactosidase A",
"GLA",
"Fabry Disease"
] | Fabry Disease | Atul Mehta, Derralynn A Hughes | Summary Fabry disease is the most common of the lysosomal storage disorders and results from deficient activity of the enzyme alpha-galactosidase A (α-Gal A), leading to progressive lysosomal deposition of globotriaosylceramide and its derivatives in cells throughout the body. The classic form, occurring in males with ... | Classic Fabry disease
Atypical & late-onset variants of Fabry disease
• Classic Fabry disease
• Atypical & late-onset variants of Fabry disease
## Diagnosis
Fabry disease typically affects more than one organ system and
Vascular cutaneous lesions (angiokeratomas)
Periodic crises of severe pain in the extremities... | [] | 5/8/2002 | 27/1/2022 | 11/4/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
factor-v-leiden | factor-v-leiden | [
"Hereditary Resistance to Activated Protein C",
"Hereditary Resistance to Activated Protein C",
"Coagulation factor V",
"F5",
"Factor V Leiden Thrombophilia"
] | Factor V Leiden Thrombophilia | Daniele Pastori, Danilo Menichelli, Emanuele Valeriani, Pasquale Pignatelli | Summary Factor V Leiden thrombophilia is characterized by venous thromboembolism (VTE) manifesting most commonly in adults as deep vein thrombosis (DVT) in the legs or pulmonary embolism. Thrombosis in unusual locations is less common. Factors that predispose to VTE in factor V Leiden thrombophilia include: the number ... | ## Diagnosis
Factor V Leiden thrombophilia
Note: The assay is (1) cost effective with high sensitivity and specificity; (2) can detect pseudohomozygotes (compound heterozygotes for factor V Leiden variant and another
Low APC resistance assay values to confirm the diagnosis and to distinguish factor V Leiden variant ... | [] | 14/5/1999 | 16/5/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
fahn | fahn | [
"Spastic Paraplegia 35 (SPG35)",
"Spastic Paraplegia 35 (SPG35)",
"Fatty acid 2-hydroxylase",
"FA2H",
"Fatty Acid Hydroxylase-Associated Neurodegeneration"
] | Fatty Acid Hydroxylase-Associated Neurodegeneration | Allison Gregory, Sunita Venkateswaran, Susan J Hayflick | Summary Fatty acid hydroxylase-associated neurodegeneration (FAHN) is characterized early in the disease course by central nervous system involvement including corticospinal tract involvement (spasticity), mixed movement disorder (ataxia/dystonia), and eye findings (optic atrophy, oculomotor abnormalities), and later i... | ## Diagnosis
Fatty acid hydroxylase-associated neurodegeneration (FAHN)
Onset within the first or second decade of life
Corticospinal tract involvement:
Spastic paraplegia or quadriplegia (commonly given a clinical diagnosis of hereditary spastic paraplegia)
Pyramidal tract signs (hypereflexia, clonus, Babinski ... | [
"NL Alderson, H Hama. Fatty acid 2-hydroxylase regulates cAMP-induced cell cycle exit in D6P2T schwannoma cells.. J Lipid Res. 2009;50:1203-8",
"NL Alderson, BM Rembiesa, MD Walla, A Bielawska, J Bielawski, H Hama. The human FA2H gene encodes a fatty acid 2-hydroxylase.. J Biol Chem. 2004;279:48562-8",
"N Bodda... | 28/6/2011 | 27/9/2018 | 20/9/2012 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
fam111a-dysp | fam111a-dysp | [
"Osteocraniostenosis (Gracile Bone Dysplasia)",
"Kenny-Caffey Syndrome",
"Serine protease FAM111A",
"FAM111A",
"FAM111A-Related Skeletal Dysplasias"
] | Shirley Cheng, Ivan FM Lo, Ho-Ming Luk | Summary The diagnosis of a Once the | Kenny-Caffey syndrome
Osteocraniostenosis (gracile bone dysplasia)
For synonyms and outdated names, see
For other genetic causes of these phenotypes, see
• Kenny-Caffey syndrome
• Osteocraniostenosis (gracile bone dysplasia)
## Diagnosis
No consensus clinical diagnostic criteria for
Proportionate short statur... | [] | 6/4/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
fap | fap | [
"Attenuated FAP",
"Familial Adenomatous Polyposis (FAP)",
"Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS)",
"Adenomatous polyposis coli protein",
"APC",
"APC-Associated Polyposis Conditions"
] | Timothy Yen, Peter P Stanich, Lisen Axell, Swati G Patel | Summary FAP is a colorectal cancer (CRC) predisposition syndrome that can manifest in either classic or attenuated form. Classic FAP is characterized by hundreds to thousands of adenomatous colonic polyps, beginning on average at age 16 years (range 7-36 years). For those with the classic form of FAP, 95% of individual... | Familial adenomatous polyposis (FAP)
Attenuated FAP
Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS)
For synonyms and outdated names see
For other genetic causes of these phenotypes see
• Familial adenomatous polyposis (FAP)
• Attenuated FAP
• Gastric adenocarcinoma and proximal polyposis of ... | [
"M Abdelhafez, V Phillip, A Hapfelmeier, V Sturm, M Elnegouly, M Dollhopf. Comparison of cap-assisted endoscopy vs. side-viewing endoscopy for examination of the major duodenal papilla: a randomized, controlled, noninferiority crossover study.. Endoscopy. 2019;51:419-26",
"SN Abdullah Suhaimi, N Nazri, ML Nani Ha... | 18/12/1998 | 12/5/2022 | 20/9/2004 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
fars2-def | fars2-def | [
"FARS2-Related Infantile-Onset Epileptic Mitochondrial Encephalopathy",
"FARS2-Related Later-Onset Spastic Paraplegia",
"Phenylalanine--tRNA ligase, mitochondrial",
"FARS2",
"FARS2 Deficiency"
] | FARS2 Deficiency | Mohammed Almannai, Eissa Faqeih, Ayman W El-Hattab, Lee-Jun C Wong | Summary The spectrum of FARS2 deficiency ranges from the infantile-onset phenotype, characterized by epileptic encephalopathy with lactic acidosis and poor prognosis (70% of affected individuals), to the later-onset phenotype, characterized by spastic paraplegia, less severe neurologic manifestations, and longer surviv... | For synonyms and outdated names see
For other genetic causes of these phenotypes, see
## Diagnosis
FARS2 deficiency comprises a spectrum of disease severity that ranges between two phenotypes: infantile-onset epileptic mitochondrial encephalopathy and less severe, later-onset spastic paraplegia.
Formal diagnostic c... | [] | 14/3/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
fbln5-cutis-laxa | fbln5-cutis-laxa | [
"Fibulin-5",
"FBLN5",
"FBLN5-Related Cutis Laxa"
] | Lionel Van Maldergem, Bart Loeys | Summary The diagnosis of Prenatal testing is possible for a pregnancy at increased risk in families in which the pathogenic variant(s) have been identified. | ## Diagnosis
Cutis laxa
Pulmonary emphysema
Arterial involvement (e.g., peripheral pulmonary artery stenosis, supravalvar aortic stenosis)
Inguinal hernias
Hollow viscus diverticula (e.g., intestine, bladder)
Pyloric stenosis
The diagnosis of
Note: (1) Per ACMG/AMP variant interpretation guidelines, the terms "... | [
"CS Adamo, A Beyens, A Schiavinato, DR Keene, SF Tufa, M Mörgelin, J Brinckmann, T Sasaki, A Niehoff, M Dreiner, L Pottie, L Muiño-Mosquera, EY Gulec, A Gezdirici, P Braghetta, P Bonaldo, R Wagener, M Paulsson, H Bornaun, R De Rycke, M De Bruyne, F Baeke, WP Devine, B Gangaram, A Tam, M Balasubramanian, S Ellard, S... | 19/3/2009 | 16/8/2018 | 15/6/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
fbxl4-mtddepl | fbxl4-mtddepl | [
"FBXL4 Deficiency",
"FBXL4-Related Early-Onset Mitochondrial Encephalopathy",
"Mitochondrial DNA Depletion Syndrome 13 (MTDPS13), Encephalomyopathic Type",
"Mitochondrial DNA Depletion Syndrome 13 (MTDPS13), Encephalomyopathic Type",
"FBXL4 Deficiency",
"FBXL4-Related Early-Onset Mitochondrial Encephalopa... | Mohammed Almannai, Hongzheng Dai, Ayman W El-Hattab, Lee-Jun C Wong | Summary The diagnosis of | ## Diagnosis
Developmental delay. Often global with severe speech impairment and lack of ambulation
Neurologic findings, Hypotonia, seizures, movement disorders, such as ataxia, autonomic dysfunction
Feeding difficulty and failure to thrive
Abnormal growth. Intrauterine growth restriction, short stature, microcep... | [
"G Antoun, S McBride, JR Vanstone, T Naas, J Michaud, S Redpath, HJ McMillan, J Brophy, H Daoud, P Chakraborty, D Dyment, M Holcik, ME Harper, MA Lines. Detailed biochemical and bioenergetic characterization of FBXL4-related encephalomyopathic mitochondrial DNA depletion.. JIMD Rep. 2016;27:1-9",
"PE Bonnen, JW Y... | 6/4/2017 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
fch | fch | [
"Angiopoietin-Like Protein 3 (ANGPTL3) Deficiency",
"Familial Combined Hypobetalipoproteinemia Type 2 (FHBL2)",
"Angiopoietin-Like Protein 3 (ANGPTL3) Deficiency",
"Familial Combined Hypobetalipoproteinemia Type 2 (FHBL2)",
"Angiopoietin-related protein 3",
"ANGPTL3",
"Familial Combined Hypolipidemia"
] | Familial Combined Hypolipidemia | John R Burnett, Amanda J Hooper, Robert A Hegele | Summary Familial combined hypolipidemia is not associated with any pathologic signs or symptoms; diagnosis is suggested by low plasma concentrations of lipids. The lipid profile is one of hypocholesterolemia with low plasma low-density lipoprotein (LDL) cholesterol, low plasma high-density lipoprotein (HDL) cholesterol... | ## Diagnosis
Familial combined hypolipidemia
Hypocholesterolemia with a total cholesterol of 1.9 ± 0.5 mmol/L (1.3-2.8)
Low plasma low-density lipoprotein (LDL) cholesterol of 1.3 ± 0.6 mmol/L (0.5-1.4)
Low plasma high-density lipoprotein (HDL) cholesterol of 0.6 ± 1.3 mmol/L (0.3-1.2)
Low plasma triglycerides o... | [
"M Arca, L D'Erasmo, I. Minicocci. Familial combined hypolipidemia: angiopoietin-like protein 3 deficiency.. Curr Opin Lipidol. 2020;31:41-8",
"JW Balder, A Rimbert, X Zhang, M Viel, R Kanninga, F van Dijk, P Lansberg, R Sinke, JA Kuivenhoven. Genetics, lifestyle, and low-density lipoprotein cholesterol in young ... | 20/7/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
fcmd | fcmd | [
"FCMD",
"FCMD",
"Ribitol-5-phosphate transferase FKTN",
"FKTN",
"Fukuyama Congenital Muscular Dystrophy"
] | Fukuyama Congenital Muscular Dystrophy | Kayoko Saito | Summary Fukuyama congenital muscular dystrophy (FCMD) is characterized by hypotonia, symmetric generalized muscle weakness, and brain malformations including, classically, cobblestone lissencephaly with cerebral and cerebellar dysplasia. There is a spectrum of severity and mild, typical, and severe phenotypes are recog... | ## Diagnosis
No consensus clinical diagnostic criteria for Fukuyama congenital muscular dystrophy (FCMD) have been published.
FCMD
Early-infantile-onset hypotonia and weakness with contractures of the hips, knees, and interphalangeal joints. Muscle weakness is typically progressive with age of onset younger than n... | [] | 26/1/2006 | 8/5/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
fd | fd | [
"Hereditary Sensory and Autonomic Neuropathy Type III (HSAN III)",
"Riley-Day Syndrome",
"Riley-Day Syndrome",
"Hereditary Sensory and Autonomic Neuropathy Type III (HSAN III)",
"Elongator complex protein 1",
"ELP1",
"Familial Dysautonomia"
] | Familial Dysautonomia | Bat-El Bar-Aluma | Summary Familial dysautonomia, which affects the development and survival of sensory, sympathetic, and parasympathetic neurons, is a debilitating disorder present from birth. Neuronal degeneration progresses throughout life. Affected individuals have gastrointestinal dysfunction, autonomic crises (i.e., hypertensive vo... | ## Diagnosis
The five cardinal clinical diagnostic criteria for familial dysautonomia are absence of fungiform papillae on the tongue, absence of flare after injection of intradermal histamine, decreased or absent deep-tendon reflexes, absence of overflow emotional tears, and Ashkenazi Jewish descent [
Gastrointest... | [
"FB Axelrod, JD Goldberg, XY Ye, C Maayan. Survival in familial dysautonomia: Impact of early intervention.. J Pediatr. 2002;141:518-23",
"FB Axelrod, G Gold-von Simson. Hereditary sensory and autonomic neuropathies: types II, III, and IV.. Orphanet J Rare Dis 2007;2:39",
"FB Axelrod, J Pearson. Congenital sens... | 21/1/2003 | 4/11/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
feingold | feingold | [
"Oculodigitoesophagoduodenal Syndrome",
"ODED Syndrome",
"Oculodigitoesophagoduodenal Syndrome",
"ODED Syndrome",
"N-myc proto-oncogene protein",
"MYCN",
"Feingold Syndrome 1"
] | Feingold Syndrome 1 | Carlo LM Marcelis, Arjan PM de Brouwer | Summary Feingold syndrome 1 (referred to as FS1 in this The diagnosis of FS1 is established in a proband with suggestive clinical findings and a heterozygous pathogenic variant in FS1 is inherited in an autosomal dominant manner. Approximately 60% of individuals with Feingold syndrome 1 have an affected parent; the pro... | ## Diagnosis
Feingold syndrome 1 (FS1)
Digital anomalies (brachymesophalangy, thumb hypoplasia, toe syndactyly)
Microcephaly (occipito-frontal circumference <10th centile)
Short palpebral fissures
Gastrointestinal atresias, especially esophageal and duodenal, diagnosed pre- or postnatally by imaging studies (usual... | [
"B Blaumeiser, B Oehl-Jaschkowitz, W Borozdin, J Kohlhase. Feingold syndrome associated with two novel MYCN mutations in sporadic and familial cases including monozygotic twins.. Am J Med Genet. 2008;146A:2304-7",
"HG Brunner, RM Winter. Autosomal dominant inheritance of abnormalities of the hands and feet with s... | 30/6/2009 | 4/4/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
fevr | fevr | [
"adFEVR",
"adFEVR",
"Frizzled-4",
"Low-density lipoprotein receptor-related protein 5",
"Tetraspanin-12",
"FZD4",
"LRP5",
"TSPAN12",
"Familial Exudative Vitreoretinopathy, Autosomal Dominant"
] | Familial Exudative Vitreoretinopathy, Autosomal Dominant – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY | Carmel Toomes, Louise Downey | Summary Autosomal dominant familial exudative vitreoretinopathy (adFEVR) is characterized by failure of peripheral retinal vascularization. The visual problems and variable phenotype associated with adFEVR result from secondary complications caused by retinal ischemia. The retinal avascularity is probably present from... | ## Diagnosis
The diagnosis of autosomal dominant familial exudative vitreoretinopathy (adFEVR) is based on the following:
Family history compatible with autosomal dominant inheritance
Bilateral peripheral retinal avascularity (
Retinal avascularity is usually seen temporally, but may be missed unless an indirect op... | [
"M Ai, S Heeger, CF Bartels, DK Schelling. Clinical and molecular findings in osteoporosis-pseudoglioma syndrome.. Am J Hum Genet 2005;77:741-53",
"WE Benson. Familial exudative vitreoretinopathy.. Trans Am Ophthalmol Soc 1995;93:473-521",
"FN Boonstra, CE van Nouhuys, J Schuil, IJ de Wijs, KP van der Donk, K N... | 21/3/2005 | 14/7/2011 | 22/9/2011 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
fg | fg | [
"FG Syndrome Type 1 (FGS1)",
"Lujan Syndrome (LS)",
"X-Linked Ohdo Syndrome (XLOS)",
"MED12-Related Nonspecific Intellectual Disability (MED12-Related NSID)",
"Hardikar Syndrome (HS)",
"Mediator of RNA polymerase II transcription subunit 12",
"MED12",
"MED12-Related Disorders"
] | Michael J Lyons | Summary The diagnosis of an | FG syndrome type 1 (FGS1)
Lujan syndrome (LS)
X-linked Ohdo syndrome (XLOS)
Hardikar syndrome (HS)
Nonspecific intellectual disability (NSID)
For synonyms and outdated names see
• FG syndrome type 1 (FGS1)
• Lujan syndrome (LS)
• X-linked Ohdo syndrome (XLOS)
• Hardikar syndrome (HS)
• Nonspecific intellectua... | [
"S Amodeo, G Vitrano, M Guardino, G Paci, F Corselli, V Antona, G Barrano, M Magliozzi, A Novelli, R Venezia, G Corsello. What is the impact of a novel MED12 variant on syndromic conotruncal heart defects? Analysis of case report on two male sibs.. Ital J Pediatr. 2020;46:98",
"H Bouazzi, G Lesca, C Trujillo, MK ... | 23/6/2008 | 12/8/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
fgf14-ataxia | fgf14-ataxia | [
"Spinocerebellar Ataxia 27B (SCA27B)",
"FGF14 (GAA)n-Mediated Ataxia",
"GAA-FGF14 Ataxia",
"GAA-FGF14 Disease",
"GAA-FGF14-Related Disease",
"SCA27B/ATX-FGF14",
"Spinocerebellar Ataxia 27B (SCA27B)",
"FGF14 (GAA)n-Mediated Ataxia",
"GAA-FGF14 Ataxia",
"GAA-FGF14 Disease",
"GAA-FGF14-Related Dise... | GAA- | David Pellerin, Matt Danzi, Mathilde Renaud, Henry Houlden, Matthis Synofzik, Stephan Zuchner, Bernard Brais | Summary GAA- The diagnosis of GAA- GAA- | ## Diagnosis
GAA-
Commonly associated neurologic findings include the following:
Episodic ataxia, commonly triggered by exercise / physically demanding tasks or alcohol intake; may manifest with diplopia, vertigo, dysarthria, and ataxia
Cerebellar oculomotor signs, such as saccadic pursuit, dysmetric saccades, rebo... | [] | 25/1/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
fhm | fhm | [
"Sodium channel protein type 1 subunit alpha",
"Sodium/potassium-transporting ATPase subunit alpha-2",
"Voltage-dependent P/Q-type calcium channel subunit alpha-1A",
"ATP1A2",
"CACNA1A",
"SCN1A",
"Familial Hemiplegic Migraine"
] | Familial Hemiplegic Migraine | Joanna C Jen | Summary Familial hemiplegic migraine (FHM) falls within the category of migraine with aura. In migraine with aura (including FHM) the neurologic symptoms of aura are unequivocally localizable to the cerebral cortex or brain stem and include visual disturbance (most common), sensory loss (e.g., numbness or paresthesias ... | ## Diagnosis
Consensus clinical diagnostic criteria for familial hemiplegic migraine (FHM) have been published by the
FHM is a category of migraine with aura.
Note: Migraine with aura is a recurring disorder of neurologic symptoms unequivocally localizable to the cerebral cortex or brain stem. The aura usually devel... | [] | 17/7/2001 | 29/4/2021 | 4/7/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
fhs | fhs | [
"Helicase SRCAP",
"SRCAP",
"SRCAP-Related Floating-Harbor Syndrome"
] | Malgorzata JM Nowaczyk, Sarah M Nikkel, Susan M White | Summary The diagnosis is established in a proband with suggestive findings and a heterozygous | ## Diagnosis
No consensus clinical diagnostic criteria for
Triangular face
Deep-set eyes
Short philtrum
Wide mouth with thin vermilion of the upper lip
Long nose with narrow bridge, broad base, broad tip, and low-hanging columella
Low-set ears
Proportionate short stature (see
Significant delay in bone age ea... | [] | 29/11/2012 | 10/4/2025 | 24/1/2013 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
fkbp14-keds | fkbp14-keds | [
"kEDS-FKBP14",
"kEDS-FKBP14",
"Peptidyl-prolyl cis-trans isomerase FKBP14",
"FKBP14",
"FKBP14-Kyphoscoliotic Ehlers-Danlos Syndrome"
] | Cecilia Giunta, Marianne Rohrbach, Christine Fauth, Matthias Baumann | Summary Clinical diagnostic criteria rely on the finding of congenital muscular hypotonia AND congenital or early-onset kyphoscoliosis in addition to generalized joint hypermobility or further gene-specific and/or supportive clinical features. The diagnosis of | ## Diagnosis
Formal clinical diagnostic criteria for
Major and minor clinical features of
Congenital muscular hypotonia
Congenital or early-onset kyphoscoliosis
Generalized joint hypermobility
Early-onset sensorineural, conductive, or mixed hearing impairment (See
Muscle atrophy
Follicular hyperkeratosis
B... | [] | 23/5/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
flnb-dis | flnb-dis | [
"Atelosteogenesis Type I (AOI)",
"Atelosteogenesis Type III (AOIII)",
"Larsen Syndrome",
"Spondylocarpotarsal Synostosis (SCT) Syndrome",
"Boomerang Dysplasia",
"Piepkorn Osteochondrodysplasia",
"Filamin-B",
"FLNB",
"FLNB Disorders"
] | Stephen Robertson | Summary The SCT syndrome is characterized by postnatal disproportionate short stature, scoliosis and lordosis, clubfeet, hearing loss, dental enamel hypoplasia, carpal and tarsal synostosis, and vertebral fusions. Larsen syndrome is characterized by congenital dislocations of the hip, knee, and elbow; clubfeet (equinov... | Atelosteogenesis type I (AOI) (includes Boomerang dysplasia)
Atelosteogenesis type III (AOIII)
Larsen syndrome
Piepkorn osteochondrodysplasia
Spondylocarpotarsal synostosis (SCT) syndrome
For synonyms and outdated names see
For other genetic causes of these phenotypes see
• Atelosteogenesis type I (AOI) (include... | [
"M Bernkopf, D Hunt, N Koelling, T Morgan, AL Collins, J Fairhurst, SP Robertson, AGL Douglas, A Goriely. Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases.. Hum Mutat. 2017;38:1360-4",
"LS ... | 9/10/2008 | 13/2/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
fmf | fmf | [
"Recurrent Polyserositis",
"Recurrent Polyserositis",
"Familial Mediterranean Fever Type 1",
"Familial Mediterranean Fever Type 2",
"Pyrin",
"MEFV",
"Familial Mediterranean Fever"
] | Familial Mediterranean Fever | Mordechai Shohat | Summary Familial Mediterranean fever (FMF) is divided into two phenotypes: type 1 and type 2. FMF type 1 is characterized by recurrent short episodes of inflammation and serositis including fever, peritonitis, synovitis, pleuritis, and, rarely, pericarditis and meningitis. The symptoms and severity vary among affected ... | Familial Mediterranean fever type 1
Familial Mediterranean fever type 2
For synonyms and outdated names see
• Familial Mediterranean fever type 1
• Familial Mediterranean fever type 2
## Diagnosis
Familial Mediterranean fever (FMF)
Recurrent febrile episodes accompanied by peritonitis, synovitis, or pleuritis
R... | [] | 8/8/2000 | 15/12/2016 | 25/2/2008 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
focal-dh | focal-dh | [
"Focal Dermal Hypoplasia",
"Goltz Syndrome",
"Goltz-Gorlin Syndrome",
"Goltz Syndrome",
"Goltz-Gorlin Syndrome",
"Focal Dermal Hypoplasia (FDH)",
"Protein-serine O-palmitoleoyltransferase porcupine",
"PORCN",
"PORCN-Related Developmental Disorders"
] | V Reid Sutton | Summary | ## Diagnosis
A
Note: The lines of Blaschko correspond to cell migration pathways evident during embryonic and fetal skin development. Like dermatomes, the lines of Blaschko are linear on the limbs and circumferential on the trunk. Unlike dermatomes, the lines of Blaschko do not correspond to innervation patterns.
... | [] | 15/5/2008 | 15/6/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
folate-mal | folate-mal | [
"Congenital Folate Malabsorption",
"Congenital Folate Malabsorption",
"Proton-coupled folate transporter",
"SLC46A1",
"Hereditary Folate Malabsorption"
] | Hereditary Folate Malabsorption | I David Goldman | Summary Hereditary folate malabsorption (HFM) is characterized by folate deficiency due to impaired intestinal folate absorption and impaired folate transport into the central nervous system. Findings include poor feeding, failure to thrive, and anemia. There can be leukopenia and thrombocytopenia, diarrhea and/or oral... | ## Diagnosis
Hereditary folate malabsorption (HFM) is characterized by folate deficiency with impaired intestinal folate absorption and impaired folate transport into the central nervous system.
HFM
Anorexia with poor weight gain and failure to thrive
Diarrhea and/or oral mucositis
Infections with unusual organi... | [] | 17/6/2008 | 5/5/2022 | 15/2/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
folr1-cft-def | folr1-cft-def | [
"Folate Receptor-Alpha Deficiency",
"FOLR1 Deficiency",
"FOLRα Deficiency",
"FRα Deficiency",
"Folate Receptor-Alpha Deficiency",
"FOLR1 Deficiency",
"FOLRa Deficiency",
"FRa Deficiency",
"Folate receptor alpha",
"FOLR1",
"FOLR1-Related Cerebral Folate Transport Deficiency"
] | I David Goldman | Summary Treatment with 5-formyltetrahydrofolate (5-formylTHF; also known as folinic acid or leucovorin) can result in substantial improvement in neurologic findings when started at a young age. Treatment of asymptomatic or mildly symptomatic younger sibs at the time of diagnosis of their older sibs can either prevent t... | ## Diagnosis
Developmental delays, particularly in cognition, speech, and gait
Developmental delays in motor, cognitive, speech, and language
Movement disorders, including ocular (nystagmus, strabismus), hypotonia, abnormalities of gait, ataxia, tremors, and myoclonic jerks
Seizures, typically myoclonic or toni... | [] | 11/1/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
fop | fop | [
"Myositis Ossificans Progressiva",
"Progressive Ossifying Myositis",
"ACVR1-Related Fibrodysplasia Ossificans Progressiva",
"Myositis Ossificans Progressive",
"Progressive Ossifying Myositis",
"ACVR1-Related Fibrodysplasia Ossificans Progressiva",
"Activin receptor type-1",
"ACVR1",
"Fibrodysplasia ... | Fibrodysplasia Ossificans Progressiva | Lauren S Akesson, Ravi Savarirayan | Summary Fibrodysplasia ossificans progressiva (FOP) is characterized by congenital bilateral hallux valgus malformations and early-onset heterotopic ossification, which may be spontaneous or precipitated by trauma including intramuscular vaccinations. Painful, recurrent soft-tissue swellings (flare-ups) may precede loc... | ## Diagnosis
There are no formal diagnostic criteria for fibrodysplasia ossificans progressiva (FOP).
FOP
Congenital hallux valgus deformity that is most often bilateral
Progressive heterotopic ossification (extraosseous bone formation) that may manifest as a palpable mass. Ossification is either spontaneous or i... | [] | 11/6/2020 | 23/5/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
foxg1-ndd | foxg1-ndd | [
"FOXG1-Related Disorder",
"FOXG1-Related Encephalopathy",
"FOXG1-Related Neurodevelopmental Disorder",
"FOXG1-Related Neurodevelopmental Disorder",
"FOXG1-Related Disorder",
"FOXG1-Related Encephalopathy",
"Forkhead box protein G1",
"FOXG1",
"FOXG1 Syndrome"
] | Knut Brockmann, Martin Staudt | Summary The diagnosis of | ## Diagnosis
Severe developmental delay; absent speech development in most individuals
Severe intellectual disability
Generalized hypotonia of infancy
Infant feeding difficulties and poor weight gain
Hyperkinetic/dyskinetic movement disorder
Epilepsy with a wide range of seizure types including infantile spasms... | [] | 6/6/2024 | 1/5/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
foxp1 | foxp1 | [
"FOXP1 Haploinsufficiency",
"FOXP1-Related Neurodevelopmental Disorder",
"FOXP1 Haploinsufficiency",
"FOXP1-Related Neurodevelopmental Disorder",
"Forkhead box protein P1",
"FOXP1",
"FOXP1 Syndrome"
] | FOXP1 Syndrome | Gudrun Rappold, Paige Siper, Ana Kostic, Ruth Braden, Angela Morgan, Saskia Koene, Alexander Kolevzon | Summary FOXP1 syndrome is characterized by delays in early motor and language milestones, mild-to-severe intellectual deficits, speech and language impairment in all individuals regardless of level of cognitive abilities, and behavior abnormalities (including autism spectrum disorder or autistic features, attention-def... | ## Diagnosis
No consensus clinical diagnostic criteria for FOXP1 syndrome have been published.
FOXP1 syndrome should be considered in a proband with the following clinical findings, imaging findings, and family history.
Generalized hypotonia of infancy
Infant feeding issues
Mild-to-severe intellectual disability... | [] | 21/9/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
foxp2-sl-dis | foxp2-sl-dis | [
"FOXP2-Only-Related Disorders",
"FOXP2-Plus-Related Disorders",
"Forkhead box protein P2",
"FOXP2",
"FOXP2-Related Speech and Language Disorder"
] | Angela Morgan, Simon E Fisher, Ingrid Scheffer, Michael Hildebrand | Summary The diagnosis of | This chapter addresses the core phenotype (speech and language disorder) and additional (variable) findings associated with intragenic
## Diagnosis
No consensus clinical diagnostic criteria for
Children with CAS have difficulties in automatically and accurately sequencing speech sounds into words with the correct pr... | [
"KJ Alcock, RE Passingham, KE Watkins, F Vargha-Khadem. Oral dyspraxia in inherited speech and language impairment and acquired dysphasia.. Brain Lang. 2000;75:17-33",
"A Brignell, C Gu, A Holm, B Carrigg, DA Sheppard, DJ Amor, AT Morgan. Speech and language phenotype in Phelan-McDermid (22q13.3) syndrome.. Eur J... | 23/6/2016 | 26/1/2023 | 2/2/2017 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
fragilex | fragilex | [
"Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)",
"Fragile X Syndrome (FXS)",
"FMR1 Primary Ovarian Insufficiency (FXPOI)",
"Fragile X messenger ribonucleoprotein 1",
"FMR1",
"FMR1 Disorders"
] | Jessica Ezzell Hunter, Elizabeth Berry-Kravis, Heather Hipp, Peter K Todd | Summary Fragile X syndrome occurs in individuals with an FXTAS occurs in individuals who have an FXPOI, defined as hypergonadotropic hypogonadism before age 40 years, has been observed in 20% of women who carry a premutation allele compared to 1% in the general population. The diagnosis of an | Fragile X syndrome (FXS)
Fragile X-associated tremor/ataxia syndrome (FXTAS)
For synonyms and outdated names see
For other genetic causes of these phenotypes see
• Fragile X syndrome (FXS)
• Fragile X-associated tremor/ataxia syndrome (FXTAS)
## Diagnosis
Males and females with intellectual disability or devel... | [] | 16/6/1998 | 21/11/2019 | 16/5/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
friedreich | friedreich | [
"FRDA",
"FRDA",
"Frataxin, mitochondrial",
"FXN",
"Friedreich Ataxia"
] | Friedreich Ataxia | Sanjay I Bidichandani, Martin B Delatycki, Marek Napierala, Antoine Duquette | Summary Typical Friedreich ataxia (FRDA) is characterized by progressive ataxia with onset from early childhood to early adulthood with mean age at onset from 10 to 15 years (range: age two years to the eighth decade). Ataxia, manifesting initially as poor balance when walking, is typically followed by upper-limb ataxi... | ## Diagnosis
No consensus diagnostic criteria for Friedreich ataxia (FRDA) have been published.
FRDA
Progressive ataxia
Dysarthria
Decreased/loss of position sense and/or vibration sense in the lower limbs
Pyramidal involvement resulting in weakness of the legs, extensor plantar responses
Muscle weakness
Sc... | [] | 18/12/1998 | 31/10/2024 | 26/6/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
fructose1-6-def | fructose1-6-def | [
"FBP1 Deficiency",
"FBPase Deficiency",
"Fructose 1,6 Diphosphatase Deficiency",
"FBP1 Deficiency",
"FBPase Deficiency",
"Fructose 1,6 Diphosphatase Deficiency",
"Fructose-1,6-bisphosphatase 1",
"FBP1",
"Fructose-1,6-Bisphosphatase Deficiency"
] | Fructose-1,6-Bisphosphatase Deficiency | Sunita Bijarnia-Mahay, Sameer Bhatia, Veronica Arora | Summary Fructose-1,6-bisphosphatase (FBP1) deficiency is characterized by episodic acute crises of lactic acidosis and ketotic hypoglycemia, manifesting as hyperventilation, apneic spells, seizures, and/or coma. Acute crises are most common in early childhood; nearly half of affected children have hypoglycemia in the n... | ## Diagnosis
Formal diagnostic criteria for fructose-1,6-bisphosphatase (FBP1) deficiency have not been established.
FBP1 deficiency
Episodes of acute crisis may manifest as hyperventilation, apneic spells, seizures, and/or coma, most commonly in neonates and infants. The course of illness is precipitous and may b... | [] | 5/12/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
fryns | fryns | [
"GPI ethanolamine phosphate transferase 1",
"PIGN",
"Fryns Syndrome"
] | Fryns Syndrome | Anne Slavotinek | Summary Fryns syndrome is characterized by diaphragmatic defects (diaphragmatic hernia, eventration, hypoplasia, or agenesis); characteristic facial appearance (coarse facies, wide-set eyes, a wide and depressed nasal bridge with a broad nasal tip, long philtrum, low-set and anomalous ears, tented vermilion of the uppe... | ## Diagnosis
Diagnostic criteria for Fryns syndrome were reformulated by
Note: Controversies regarding diagnostic criteria include the extent to which phenotypic deviation from the original case reports of Fryns syndrome is tolerable. For example, cases with atypical limb manifestations such as ectrodactyly, radial r... | [] | 18/4/2007 | 17/9/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
fsh | fsh | [
"FSHD",
"FSH Muscular Dystrophy",
"FSH Muscular Dystrophy",
"FSHD",
"FSHD1",
"FSHD2",
"DNA (cytosine-5)-methyltransferase 3B",
"Double homeobox protein 4",
"Ligand-dependent nuclear receptor-interacting factor 1",
"Structural maintenance of chromosomes flexible hinge domain-containing protein 1",
... | Facioscapulohumeral Muscular Dystrophy | Matthew K Preston, Leo H Wang | Summary Facioscapulohumeral muscular dystrophy (FSHD) typically presents with weakness of the facial muscles, the stabilizers of the scapula, and/or the dorsiflexors of the foot. Severity is highly variable. Weakness can be slowly progressive and approximately 20% of affected individuals eventually require a wheelchair... | ## Diagnosis
Evidence-based guidelines for diagnosis of facioscapulohumeral muscular dystrophy (FSHD) are available [
FSHD
Weakness that predominantly involves the facial, scapular stabilizer, and/or foot dorsiflexor muscles without associated ocular or bulbar muscle weakness. Weakness is often asymmetric.
Progress... | [] | 8/3/1999 | 10/7/2025 | 20/3/2014 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
ftd-chmp2b | ftd-chmp2b | [
"CHMP2B-FTD",
"Chromosome 3-Linked Frontotemporal Dementia",
"FTD-3",
"FTD-3",
"CHMP2B-FTD",
"Chromosome 3-Linked Frontotemporal Dementia",
"Charged multivesicular body protein 2b",
"CHMP2B",
"CHMP2B Frontotemporal Dementia"
] | Peter Roos, Ida E Holm, Jørgen E Nielsen, Troels T Nielsen, Jeremy M Brown, Peter Johannsen, Adrian M Isaacs | Summary The diagnosis of | ## Diagnosis
Frontotemporal dementia
A neuropsychological profile of a dysexecutive syndrome, behavioral changes, lack of emotional recognition, and dyscalculia
Generalized atrophy on neuroimaging:
Computed tomography (CT) or magnetic resonance imaging (MRI) show generalized cortical and central atrophy and ventric... | [] | 23/8/2007 | 2/7/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
ftd-grn | ftd-grn | [
"FTD-GRN",
"FTD-GRN",
"Progranulin",
"GRN",
"GRN Frontotemporal Dementia"
] | Ging-Yuek Robin Hsiung, Howard H Feldman | Summary The spectrum of The diagnosis of | ## Diagnosis
Clinical presentations of
Early behavioral disinhibition (including one of the following):
Socially inappropriate behavior
Loss of manners or decorum
Impulsive, rash, or careless actions
Early apathy or inertia (one of the following):
Apathy
Inertia
Early loss of sympathy or empathy (one of the fo... | [
"T Arai, M Hasegawa, H Akiyama, K Ikeda, T Nonaka, H Mori, D Mann, K Tsuchiya, M Yoshida, Y Hashizume, T Oda. TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.. Biochem Biophys Res Commun 2006;351:602-11",
"MJ Armstrong, I L... | 7/9/2007 | 6/2/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
ftdp-17 | ftdp-17 | [
"MAPT-Related Corticobasal Degeneration (CBD)",
"MAPT-Related Dementia with Epilepsy",
"Frontotemporal Dementia with Parkinsonism-17 (FTDP-17)",
"MAPT-Related Mild Late-Onset Parkinsonism",
"MAPT-Related Progressive Supranuclear Palsy (PSP)",
"Microtubule-associated protein tau",
"MAPT",
"MAPT-Related... | Jonathan Rohrer, Brigid Ryan, Rebekah Ahmed | Summary The spectrum of clinical manifestations of The diagnosis of | ## Diagnosis
No consensus clinical diagnostic criteria for
Age at onset ranges from 17 to 82 years; mean age of onset is 49.5 (SD: 10.0) years [
The most common initial manifestations are:
Behavioral changes consistent with a diagnosis of behavioral variant FTD (bvFTD) [
Parkinsonian features suggestive of eithe... | [
"K Ando, L Ferlini, V Suain, Z Yilmaz, S Mansour, I Le Ber, C Bouchard, K Leroy, A Durr, F Clot, M Sarazin, JC Bier, JP Brion. De novo MAPT mutation G335A causes severe brain atrophy, 3R and 4R PHF-tau pathology and early onset frontotemporal dementia.. Acta Neuropathol Commun. 2020;8:94",
"MJ Armstrong, I Litvan... | 7/11/2000 | 18/8/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
fum | fum | [
"Fumarase Deficiency",
"Fumaric Aciduria",
"Fumaric Aciduria",
"Fumarase Deficiency",
"Fumarate hydratase, mitochondrial",
"FH",
"Fumarate Hydratase Deficiency"
] | Fumarate Hydratase Deficiency | David Coman, Kamil R Kranc, John Christodoulou | Summary Fumarate hydratase (FH) deficiency results in severe neonatal and early infantile encephalopathy that is characterized by poor feeding, failure to thrive, hypotonia, lethargy, and seizures. Dysmorphic facial features include frontal bossing, depressed nasal bridge, and widely spaced eyes. Many affected individu... | ## Diagnosis
Fumarate hydratase (FH) deficiency
Neonatal and early-infantile severe encephalopathy, which may include poor feeding, hypotonia, and decreased levels of consciousness (lethargy, stupor, and coma)
Seizures, present in many but not all affected individuals
Intellectual disability / developmental delay... | [
"G Allegri, MJ Fernandes, FB Scalco, P Correia, RE Simoni, JC Llerena, ML de Oliveira. Fumaric aciduria: an overview and the first Brazilian case report.. J Inherit Metab Dis. 2010;33:411-9",
"O Baştuğ, F Kardaş, MA Öztürk, H Halis, Ş Memur, L Korkmaz, Z Tağ, T Güneş. A rare cause of opistotonus; fumaric aciduria... | 5/7/2006 | 23/4/2020 | 10/8/2006 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
g6pc3-def | g6pc3-def | [
"Ubiquitous Glucose-6-Phosphatase Deficiency",
"Ubiquitous Glucose-6-Phosphatase Deficiency",
"Nonsyndromic Severe Congenital Neutropenia Due to G6PC3 Deficiency",
"Classic G6PC3 Deficiency (Severe Congenital Neutropenia Type 4)",
"Severe G6PC3 Deficiency (Dursun Syndrome)",
"Glucose-6-phosphatase 3",
"... | G6PC3 Deficiency | Siddharth Banka | Summary G6PC3 deficiency is characterized by severe congenital neutropenia which occurs in a phenotypic continuum that includes the following: Isolated severe congenital neutropenia (nonsyndromic) Classic G6PC3 deficiency (severe congenital neutropenia plus cardiovascular and/or urogenital abnormalities) Severe G6PC3 d... | Nonsyndromic severe congenital neutropenia due to G6PC3 deficiency
Classic G6PC3 deficiency (severe congenital neutropenia type 4)
Severe G6PC3 deficiency (Dursun syndrome)
• Nonsyndromic severe congenital neutropenia due to G6PC3 deficiency
• Classic G6PC3 deficiency (severe congenital neutropenia type 4)
• Sever... | [
"AA Alangari, A Alsultan, ME Osman, S Anazi, FS Alkuraya. A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family.. J Clin Immunol. 2013;33:1403-6",
"Z Alizadeh, MR Fazlollahi, P Eshghi, AA Hamidieh, M Ghadami, Z Pourpak. Two cases of syndromic ne... | 16/4/2015 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
gabriele-devries | gabriele-devries | [
"YY1 Intellectual Disability Syndrome",
"YY1 Intellectual Disability Syndrome",
"Transcriptional repressor protein YY1",
"YY1",
"Gabriele-de Vries Syndrome"
] | Gabriele-de Vries Syndrome | Maria J Nabais Sá, Michele Gabriele, Giuseppe Testa, Bert BA de Vries | Summary Gabriele-de Vries syndrome is characterized by mild-to-profound developmental delay / intellectual disability (DD/ID) in all affected individuals and a wide spectrum of functional and morphologic abnormalities. Intrauterine growth restriction or low birth weight and feeding difficulties are common. Congenital b... | ## Diagnosis
No formal clinical diagnostic criteria exist for Gabriele-de Vries syndrome.
The clinical spectrum of Gabriele-de Vries syndrome is variable. Gabriele-de Vries syndrome
Mild-to-profound developmental delay
Any of the following features presenting in infancy or childhood:
Craniofacial dysmorphisms (S... | [
"ML Atchison. Function of YY1 in long-distance DNA interactions.. Front Immunol. 2014;5:45",
"JA Beagan, MT Duong, KR Titus, L Zhou, Z Cao, J Ma, CV Lachanski, DR Gillis, JE Phillips-Cremins. YY1 and CTCF orchestrate a 3D chromatin looping switch during early neural lineage commitment.. Genome Res. 2017;27:1139-5... | 30/5/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
gaci | gaci | [
"GACI",
"Idiopathic Infantile Arterial Calcification (IIAC)",
"GACI",
"Idiopathic Infantile Arterial Calcification (IIAC)",
"ATP-binding cassette sub-family C member 6",
"Ectonucleotide pyrophosphatase/phosphodiesterase family member 1",
"ABCC6",
"ENPP1",
"Generalized Arterial Calcification of Infan... | Generalized Arterial Calcification of Infancy | Shira G Ziegler, William A Gahl, Carlos R Ferreira | Summary Generalized arterial calcification of infancy (GACI) is characterized by infantile onset of widespread arterial calcification and/or narrowing of large and medium-sized vessels resulting in cardiovascular findings (which can include heart failure, respiratory distress, edema, cyanosis, hypertension, and/or card... | ## Diagnosis
No consensus clinical diagnostic criteria for generalized arterial calcification of infancy (GACI) have been published.
GACI should be suspected in individuals with a combination of the following.
Typical cardiovascular findings including heart failure, respiratory distress, edema, cyanosis, hypertens... | [
"RA Albright, P Stabach, W Cao, D Kavanagh, I Mullen, AA Braddock, MS Covo, M Tehan, G Yang, Z Cheng, K Bouchard, ZX Yu, S Thorn, X Wang, EJ Folta-Stogniew, A Negrete, AJ Sinusas, J Shiloach, G Zubal, JA Madri, EM De La Cruz, DT Braddock. ENPP1-Fc prevents mortality and vascular calcifications in rodent model of ge... | 13/11/2014 | 30/12/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
galactosemia | galactosemia | [
"Galactose-1-Phosphate Uridylyltransferase Deficiency",
"GALT Deficiency",
"GALT Deficiency",
"Galactose-1-Phosphate Uridylyltransferase Deficiency",
"Classic Galactosemia",
"Clinical Variant Galactosemia",
"Galactose-1-phosphate uridylyltransferase",
"GALT",
"Classic Galactosemia and Clinical Varia... | Classic Galactosemia and Clinical Variant Galactosemia | Gerard T Berry | Summary The term "galactosemia" refers to disorders of galactose metabolism that include classic galactosemia, clinical variant galactosemia, and biochemical variant galactosemia (not covered in this chapter). This The diagnosis of classic galactosemia and clinical variant galactosemia is established by detection of el... | Classic galactosemia
Clinical variant galactosemia
For synonyms and outdated names see
The biochemical variant form of galactosemia is exemplified by
• Classic galactosemia
• Clinical variant galactosemia
## Diagnosis
An international clinical guideline addressing management has been published [
NBS for classic... | [] | 4/2/2000 | 11/3/2021 | 2/7/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
gale-def | gale-def | [
"Galactosemia Type III",
"GALE Deficiency",
"UDP-Galactose-4'-Epimerase Deficiency",
"GALE Deficiency",
"Galactosemia Type III",
"UDP-Galactose-4'-Epimerase Deficiency",
"UDP-glucose 4-epimerase",
"GALE",
"Epimerase Deficiency Galactosemia"
] | Epimerase Deficiency Galactosemia | Judith Fridovich-Keil, Lora Bean, Miao He, Richard Schroer | Summary Epimerase deficiency galactosemia (GALE deficiency galactosemia) is generally considered a continuum comprising several forms: Infants with generalized epimerase deficiency galactosemia develop clinical findings on a regular milk diet (which contains lactose, a disaccharide of galactose and glucose); manifestat... | ## Diagnosis
Epimerase deficiency galactosemia (GALE deficiency galactosemia) is a continuum comprising three forms:
Epimerase deficiency galactosemia
In states in which the newborn screening program includes measurements of both total galactose (gal+gal-1P) and GALT enzyme activity (see
Total galactose (sum of g... | [
"A Alano, S Almashanu, JM Chinsky, P Costeas, MG Blitzer, EA Wulfsberg, TM Cowan. Molecular characterization of a unique patient with epimerase-deficiency galactosaemia.. J Inherit Metab Dis. 1998;21:341-50",
"A Alano, S Almashanu, P Maceratesi, J Reichardt, S Panny, TM Cowan. UDP-galactose-4-epimerase deficiency... | 25/1/2011 | 4/3/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
gan | gan | [
"Gigaxonin",
"GAN",
"GAN-Related Neurodegeneration"
] | Puneet Opal | Summary The diagnosis of | ## Diagnosis
No consensus clinical diagnostic criteria for
Early-onset peripheral motor and sensory neuropathy (in all individuals)
Variable findings typically observed in classic giant axonal neuropathy:
Infantile- to early childhood-onset CNS involvement that may include developmental delay / intellectual disab... | [] | 9/1/2003 | 14/10/2021 | 11/8/2009 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
gata1 | gata1 | [
"Erythroid transcription factor",
"GATA1",
"GATA1-Related Cytopenia"
] | Kaoru Takasaki, Melissa A Kacena, Wendy H Raskind, Mitchell J Weiss, Stella T Chou | Summary The diagnosis of | ## Diagnosis
Excessive bruising
Mucosal bleeding (e.g., gingival bleeding, epistaxis)
Petechiae
Hydrops fetalis in some infants
Complete blood count. Thrombocytopenia and/or mild-to-severe anemia; rarely neutropenia
Peripheral blood smear examination. Platelets may be larger and more spherical; variation in e... | [] | 22/11/2006 | 16/2/2023 | 30/3/2007 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
gaucher | gaucher | [
"Glucocerebrosidase Deficiency",
"Glucosylceramidase Deficiency",
"Glucocerebrosidase Deficiency",
"Glucosylceramidase Deficiency",
"Type 1 Gaucher Disease",
"Type 2 Gaucher disease (Acute; Infantile)",
"Type 3 Gaucher disease (Subacute; Juvenile)",
"Gaucher Disease, Perinatal-Lethal Form",
"Gaucher... | Gaucher Disease | Derralynn A Hughes, Gregory M Pastores | Summary Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal-lethal disorder to an asymptomatic type. The characterization of three major clinical types (1, 2, and 3) and two clinical forms (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. Cardiopulmo... | Type 1 Gaucher disease
Type 2 Gaucher disease (acute; infantile
Type 3 Gaucher disease (subacute; juvenile)
Perinatal-lethal form
Cardiovascular form
Saposin C deficiency can be associated with features characteristic of severe neuropathic Gaucher disease; see
• Type 1 Gaucher disease
• Type 2 Gaucher disease (a... | [] | 27/7/2000 | 7/12/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
gcps | gcps | [
"Transcriptional activator GLI3",
"GLI3",
"Greig Cephalopolysyndactyly Syndrome"
] | Greig Cephalopolysyndactyly Syndrome | Leslie G Biesecker, Jennifer J Johnston | Summary Typical Greig cephalopolysyndactyly syndrome (GCPS) is characterized by macrocephaly, widely spaced eyes associated with increased interpupillary distance, preaxial polydactyly with or without postaxial polydactyly, and cutaneous syndactyly. Developmental delay, intellectual disability, or seizures appear to be... | ## Diagnosis
Greig cephalopolysyndactyly syndrome (GCPS)
Macrocephaly
Widely spaced eyes associated with increased interpupillary distance (>97th centile)
Preaxial polydactyly with or without postaxial polydactyly
Cutaneous syndactyly
The diagnosis of GCPS
A heterozygous pathogenic (or likely pathogenic) variant... | [] | 9/7/2001 | 7/5/2020 | 15/2/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
gefs | gefs | [
"Severe Myoclonic Epilepsy in Infancy (SMEI)",
"Generalized Epilepsy with Febrile Seizures Plus (GEFS+)",
"Simple Febrile Seizures",
"Intractable Childhood Epilepsy with Generalized Tonic-Clonic Seizures (ICE-GTC)",
"Intractable Infantile Partial Seizures",
"Myoclonic-Astatic Epilepsy (MAE)",
"SCN1A-Rel... | Ian O Miller, Marcio A Sotero de Menezes | Summary The diagnosis of an | ## GeneReview Scope
Generalized epilepsy with febrile seizures plus (GEFS+)
Intractable childhood epilepsy with generalized tonic-clonic seizures (ICE-GTC)
Intractable infantile partial seizures
Myoclonic astatic epilepsy (MAE)
Severe myoclonic epilepsy in infancy (SMEI) / Dravet Syndrome (DS)
Simple febrile seiz... | [
"D Aljaafari, A Fasano, FA Nascimento, AE Lang, DM Andrade. Adult motor phenotype differentiates Dravet syndrome from Lennox-Gastaut syndrome and links SCN1A to early onset parkinsonian features.. Epilepsia. 2017;58:e44-e48",
"DM Andrade, C Hamani, AM Lozano, RA Wennberg. Dravet syndrome and deep brain stimulatio... | 29/11/2007 | 18/4/2019 | 17/2/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
geleophys-dysp | geleophys-dysp | [
"ADAMTS-like protein 2",
"Fibrillin-1",
"Latent-transforming growth factor beta-binding protein 3",
"ADAMTSL2",
"FBN1",
"LTBP3",
"Geleophysic Dysplasia"
] | Geleophysic Dysplasia | Pauline Marzin, Valérie Cormier-Daire | Summary Geleophysic dysplasia, a progressive condition resembling a lysosomal storage disorder, is characterized by short stature, short hands and feet, progressive joint limitation and contractures, distinctive facial features, progressive cardiac valvular disease, and thickened skin. Intellect is normal. The characte... | ## Diagnosis
No consensus clinical diagnostic criteria for geleophysic dysplasia have been published.
Geleophysic dysplasia
Proportionate short stature
Very short hands and feet
Progressive joint limitation and contractures
Distinctive facial features: round, full face; small nose with anteverted nares; broad n... | [] | 22/9/2009 | 28/3/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
glc | glc | [
"Angiopoietin-1 receptor",
"Cytochrome P450 1B1",
"Latent-transforming growth factor beta-binding protein 2",
"CYP1B1",
"LTBP2",
"TEK",
"Primary Congenital Glaucoma"
] | Primary Congenital Glaucoma | Khaled K Abu-Amero, Deepak P Edward | Summary Primary congenital glaucoma (PCG) is characterized by elevated intraocular pressure (IOP), enlargement of the globe (buphthalmos), edema, and opacification of the cornea with rupture of Descemet's membrane (Haab's striae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamber, and ... | ## Diagnosis
Primary congenital glaucoma (PCG)
Photophobia, blepharospasm, and excessive tearing
Edema and opacification of the cornea with rupture of Descemet's membrane, known as Haab's striae
Thinning of the anterior sclera and atrophy of the iris
Structurally normal posterior segment except for progressive opt... | [
"KK Abu-Amero, J Morales, LA Aljasim, DP Edward. CYP1B1 mutations are a major contributor to juvenile-onset open angle glaucoma in Saudi Arabia.. Ophthalmic Genet. 2015;36:184-7",
"KK Abu-Amero, EA Osman, A Mousa, J Wheeler, B Whigham, RR Allingham, MA Hauser, SA Al-Obeidan. Screening of CYP1B1 and LTBP2 genes in... | 30/9/2004 | 17/8/2017 | 25/8/2011 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
glossary | glossary | [] | ## Terms and Definitions
One version of a gene at a given location (locus) along a chromosome
The proportion of individuals in a population who have inherited a specific variant
Presence of different pathogenic variants in the same gene and at the same chromosome locus that cause a single disease phenotype
... | [] | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||||||
glut1 | glut1 | [
"De Vivo Disease",
"Glut1 Deficiency Syndrome",
"Glut1DS",
"Glut1-DS",
"De Vivo Disease",
"Glut1 Deficiency Syndrome",
"Glut1DS",
"Glut1-DS",
"Solute carrier family 2, facilitated glucose transporter member 1",
"SLC2A1",
"Glucose Transporter Type 1 Deficiency Syndrome"
] | Glucose Transporter Type 1 Deficiency Syndrome | Dong Wang, Tristan Sands, Maoxue Tang, Umrao Monani, Darryl De Vivo | Summary Glucose transporter type 1 deficiency syndrome (Glut1DS) is a disorder of brain energy metabolism. Glucose, the essential metabolic fuel for the brain, is transported into the brain exclusively by the protein glucose transporter type 1 (Glut1) across the endothelial cells forming the blood-brain barrier (BBB). ... | ## Diagnosis
An international consensus statement on the standard of care for glucose transporter type 1 deficiency syndrome (Glut1DS) diagnosis and management has been published [
Glut1DS
Generalized seizures more common than focal seizures
Early-onset childhood absence epilepsy (i.e., age <4 years)
Epilepsy with... | [] | 30/7/2002 | 6/3/2025 | 9/9/2008 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
glutaric-a1 | glutaric-a1 | [
"GA-1",
"GCDH Deficiency",
"Glutaric Aciduria Type 1",
"Glutaryl-CoA Dehydrogenase Deficiency",
"GA-1",
"GCDH Deficiency",
"Glutaric Aciduria Type 1",
"Glutaryl-CoA Dehydrogenase Deficiency",
"Glutaryl-CoA dehydrogenase, mitochondrial",
"GCDH",
"Glutaric Acidemia Type 1"
] | Glutaric Acidemia Type 1 | Austin Larson, Steve Goodman | Summary The phenotypic spectrum of untreated glutaric acidemia type 1 (GA-1) ranges from the more common form (infantile-onset disease) to the less common form (later-onset disease – i.e., after age 6 years). Of note, the GA-1 phenotype can vary widely between untreated family members with the same genotype, primarily ... | ## Diagnosis
Guidelines for diagnosis and management of glutaric acidemia type 1 (GA-1) due to deficiency or absence of functional glutaryl-CoA dehydrogenase were developed in 2007 and recently revised [
GA-1
For more information on false positive and false negative results for NBS for glutaric acidemia type 1 click... | [
"MS Badve, S Bhuta, J Mcgill. Rare presentation of a treatable disorder: glutaric aciduria type 1.. N Z Med J. 2015;128:61-4",
"M Baradaran, M Galehdari, M Aminzadeh, R Azizi Malmiri, R Tangestani, Z. Karimi. Molecular determination of glutaric aciduria type I in individuals from southwest Iran.. Arch Iran Med 20... | 19/9/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
glyt1-dis | glyt1-dis | [
"Sodium- and chloride-dependent glycine transporter 1",
"SLC6A9",
"GLYT1 Encephalopathy"
] | GLYT1 Encephalopathy – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY | Alina Kurolap, Tova Hershkovitz, Hagit N Baris | Summary GLYT1 encephalopathy is characterized in neonates by severe hypotonia, respiratory failure requiring mechanical ventilation, and absent neonatal reflexes; encephalopathy, including impaired consciousness and unresponsiveness, may be present. Arthrogryposis or joint laxity can be observed. Generalized hypotonia... | ## Diagnosis
GLYT1 encephalopathy
Early respiratory insufficiency
Hypotonia later transitioning to hypertonicity of the extremities
Startle response provoked by sudden loud sounds and tactile stimulation (which may be confused with myoclonic seizures)
Encephalopathy (present in some)
Arthrogryposis multiplex co... | [] | 30/11/2017 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
gm1-ganglio | gm1-ganglio | [
"Mucopolysaccharidosis Type IVB (Morquio B Disease)",
"GM1 Gangliosidosis",
"Beta-galactosidase",
"GLB1",
"GLB1-Related Disorders"
] | Debra S Regier, Cynthia J Tifft, Caroline E Rothermel | Summary The phenotype of GM1 gangliosidosis constitutes a spectrum ranging from severe (infantile) to intermediate (late-infantile and juvenile) to mild (chronic/adult). Type I (infantile) GM1 gangliosidosis begins before age 12 months. Prenatal manifestations may include nonimmune hydrops fetalis, intrauterine growth ... | GM1 gangliosidosis
Type I (infantile)
Type II (late infantile and juvenile)
Type III (chronic/adult)
Mucopolysaccharidosis type IVB (Morquio B disease)
For synonyms and outdated names see
For other genetic causes of these phenotypes see
• GM1 gangliosidosis
• Type I (infantile)
• Type II (late infantile and ju... | [] | 17/10/2013 | 22/4/2021 | 29/8/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
gm2a-def | gm2a-def | [
"GM2 Gangliosidosis, AB Variant",
"Hexosaminidase Activator Deficiency",
"Tay-Sachs Variant AB",
"GM2 Gangliosidosis, AB Variant",
"Hexosaminidase Activator Deficiency",
"Tay-Sachs Variant AB",
"Ganglioside GM2 activator",
"GM2A",
"GM2 Activator Deficiency"
] | GM2 Activator Deficiency | Changrui Xiao, Camilo Toro, Cyndi Tifft | Summary Acute infantile GM2 activator deficiency is a neurodegenerative disorder in which infants, who are generally normal at birth, have progressive weakness and slowing of developmental progress between ages four and 12 months. An ensuing developmental plateau is followed by progressively rapid developmental regress... | ## Diagnosis
No consensus clinical diagnostic criteria for GM2 activator deficiency have been published.
Progressive weakness or loss of motor skills beginning between ages four to 12 months
Decreased attentiveness
Exaggerated startle response
Hypotonia
Hyperreflexia
Seizures
Delayed myelination and hyper... | [] | 25/8/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
gm3-def | gm3-def | [
"Amish Infantile Epilepsy Syndrome",
"Salt and Pepper Developmental Regression Syndrome",
"ST3GAL5-CDG",
"ST3GAL5 Deficiency",
"Amish Infantile Epilepsy Syndrome",
"Salt and Pepper Developmental Regression Syndrome",
"ST3GAL5-CDG",
"ST3GAL5 Deficiency",
"Lactosylceramide alpha-2,3-sialyltransferase"... | GM3 Synthase Deficiency | Vincent Cruz, Baozhong Xin, Heng Wang | Summary Early clinical features of GM3 synthase deficiency include infantile onset of severe irritability with feeding difficulties, early and intractable seizures, growth failure with acquired microcephaly, sensorineural hearing impairment, hypotonia, and poor visual function. Over time, affected individuals experienc... | ## Diagnosis
No consensus clinical diagnostic criteria for GM3 synthase deficiency have been published.
GM3 synthase deficiency
Severe infantile irritability with feeding difficulties
Epilepsy, including infantile spasms, tonic-clonic, myoclonic, and/or generalized seizures
Growth failure
Sensorineural hearing ... | [] | 20/7/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
gnai1-ndd | gnai1-ndd | [
"Guanine nucleotide-binding protein G(i) subunit alpha-1",
"GNAI1",
"GNAI1-Related Neurodevelopmental Disorder"
] | Emily Bonkowski, Esmat Fathi, Heather C Mefford | Summary The diagnosis of | ## Diagnosis
Mild-to-profound developmental delay
Hypotonia
Mild-to-profound intellectual disability
Neurobehavioral/psychiatric manifestations (autism spectrum disorder, temper tantrums, anxiety, agitation, aggression, and attention-deficit/hyperactivity disorder)
Epilepsy (absence, generalized tonic-clonic, fo... | [] | 1/8/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
gnal-dystonia | gnal-dystonia | [
"DYT25",
"GNAL-Related Dystonia",
"GNAL-Related Dystonia",
"DYT25",
"Guanine nucleotide-binding protein G(olf) subunit alpha",
"GNAL",
"DYT-GNAL"
] | DYT- | Angela B Deutschländer, Zbigniew K Wszolek | Summary DYT- DYT- The diagnosis of DYT- DYT- Most individuals with autosomal dominant DYT- | ## Diagnosis
No formal diagnostic criteria have been established for DYT-
DYT-
DYT-
Isolated; no neurologic abnormalities other than tremor evident on neurologic examination
Age at onset typically in adulthood; rarely in childhood [
Most commonly focal and segmental; rarely generalized [
Onset typically in the c... | [] | 3/1/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
gnao1-dis | gnao1-dis | [
"GNAO1-Associated Disorder",
"GNAO1-Associated Epileptic Encephalopathy and Movement Disorder",
"GNAO1-Associated Epileptic Encephalopathy and Movement Disorder",
"GNAO1-Associated Disorder",
"Guanine nucleotide-binding protein G(o) subunit alpha",
"GNAO1",
"GNAO1-Related Disorder"
] | Lauren Briere, Moritz Thiel, David A Sweetser, Anne Koy, Erika Axeen | Summary Epilepsy can be either DEE (onset typically within the first year of life of drug-resistant epilepsy in which developmental delays are attributed to the underlying diagnosis as well as the impact of uncontrolled seizures) or varying seizure types (onset typically between ages three and ten years of focal or gen... | AD = autosomal dominant; MOI = mode of inheritance
The international League Against Epilepsy defines DEE as an epileptic encephalopathy where the developmental impairment relates to the underlying etiology as well as uncontrolled epileptic activity.
## Diagnosis
No consensus clinical diagnostic criteria for
The... | [] | 9/11/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
gnas-dis | gnas-dis | [
"Gsα Deficiency",
"Gsa Deficiency",
"Pseudohypoparathyroidism Ia (PHP-Ia)",
"Progressive Osseus Heteroplasia (POH)",
"Pseudohypoparathyroidism Ib (PHP-Ib)",
"Guanine nucleotide-binding protein G(s) subunit alpha isoforms short",
"Syntaxin-16",
"GNAS",
"STX16",
"Disorders of GNAS Inactivation"
] | Disorders of | Chad R Haldeman-Englert, Anna CE Hurst, Michael A Levine | Summary Disorders of PHP-Ia and PHP-Ic are characterized by: End-organ resistance to endocrine hormones including parathyroid hormone (PTH), thyroid-stimulating hormone (TSH), gonadotropins (LH and FSH), growth hormone-releasing hormone (GHRH), and CNS neurotransmitters (leading to obesity and variable degrees of intel... | Pseudohypoparathyroidism Ia (PHP-Ia)
Pseudohypoparathyroidism Ib (PHP-Ib)
Pseudohypoparathyroidism Ic (PHP-Ic)
Pseudopseudohypoparathyroidism (PPHP)
Progressive osseous heteroplasia (POH)
Osteoma cutis (OC)
For other genetic causes of these phenotypes see
• Pseudohypoparathyroidism Ia (PHP-Ia)
• Pseudohypoparat... | [
"W Ahrens, O Hiort, P Staedt, T Kirschner, C Marschke, K. Kruse. Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy.. J Clin Endocrinol Metab. 2001;86:4630-4",
"MA Aldred, S Aftimos, C Hall, KS Waters, RV Thakker, RC Trembath, L Brueton. Constitutional deletion of chromosome 20q in two patients af... | 26/10/2017 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
gnb1-e | gnb1-e | [
"Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1",
"GNB1",
"GNB1 Encephalopathy"
] | Anya Revah-Politi, Tristan T Sands, Sophie Colombo, David B Goldstein, Kwame Anyane-Yeboa | Summary The diagnosis of | ## Diagnosis
Formal diagnostic criteria for
Moderate to profound developmental delay (DD) or intellectual disability (ID); AND
One or more of the following features presenting in infancy or childhood:
Generalized hypotonia of infancy that can evolve to hypertonia and spasticity
Feeding disorder and difficulties ... | [
"M Brett, AH Lai, TW Ting, AM Tan, R Foo, S Jamuar, EC Tan. Acute lymphoblastic leukemia in a child with a de novo germline gnb1 mutation.. Am J Med Genet A. 2017;173:550-2",
"W Endo, S Ikemoto, N Togashi, T Miyabayashi, E Nakajima, S Hamano, M Shibuya, S Sato, Y Takezawa, Y Okubo, T Inui, M Kato, T Sengoku, K Og... | 5/3/2020 | 15/4/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
gnb5-ndd | gnb5-ndd | [
"Intellectual Developmental Disorder with Cardiac Arrhythmia (IDDCA) Syndrome",
"Language Delay and ADHD / Cognitive Impairment with or without Cardiac Arrhythmia (LADCI)",
"Intellectual Developmental Disorder with Cardiac Arrhythmia (IDDCA) Syndrome",
"Language Delay and ADHD / Cognitive Impairment with or w... | Gemma Poke, Lynette Grant Sadleir, Giuseppe Merla, Guillem de Valles-Ibáñez, Jonathan Robert Skinner | Summary The diagnosis of | This chapter reviews the entire spectrum of neurodevelopmental and arrhythmia phenotypes associated with biallelic
## Diagnosis
No consensus clinical diagnostic criteria for
Developmental delay
Bradycardia due to sinoatrial node dysfunction (sick sinus syndrome)
Hypotonia
Visual impairment with nystagmus
Seizure... | [
"P De Nittis, S Efthymiou, A Sarre, N Guex, J Chrast, A Putoux, T Sultan, J Raza Alvi, Z Ur Rahman, F Zafar, N Rana, F Rahman, N Anwar, S Maqbool, MS Zaki, JG Gleeson, D Murphy, H Galehdari, G Shariati, N Mazaheri, A Sedaghat, G Lesca, N Chatron, V Salpietro, M Christoforou, H Houlden, WF Simonds, T Pedrazzini, R M... | 26/8/2021 | 9/9/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
gonad-dys-46xy | gonad-dys-46xy | [
"46,XY Disorder of Sex Development (DSD)",
"46,XY Complete Gonadal Dysgenesis (CGD)",
"Desert hedgehog protein",
"Doublesex- and mab-3-related transcription factor 1",
"Mitogen-activated protein kinase kinase kinase 1",
"Probable ATP-dependent RNA helicase DHX37",
"Sex-determining region Y protein",
"... | Nonsyndromic Disorders of Testicular Development Overview | Lauren Mohnach, Patricia Y Fechner, Catherine E Keegan | Summary The purpose of this overview is to: To describe the To review the To provide an To inform To inform | 46,XY disorder of sex development (DSD)
46,XY complete gonadal dysgenesis (CGD)
For synonyms and outdated names see
• 46,XY disorder of sex development (DSD)
• 46,XY complete gonadal dysgenesis (CGD)
## Clinical Characteristics of Nonsyndromic Disorders of Testicular Development
Nonsyndromic disorders of testicu... | [] | 21/5/2008 | 18/8/2022 | 15/9/2009 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
gria2-ndd | gria2-ndd | [
"Glutamate receptor 2",
"GRIA2",
"GRIA2-Related Neurodevelopmental Disorder"
] | Stephanie Efthymiou, Elisa Rumbos Siurana, Vincenzo Salpietro, Allan Bayat, Henry Houlden | Summary The clinical phenotype of The diagnosis of | The scope table outlines the current understanding of the clustering of distinctive features in the four broad phenotypic spectra (abnormal body tone, epilepsy, movement disorder, and neurobehavioral and/or psychiatric disorders) of
ADHD = attention-deficit/hyperactivity disorder; ASD = autistic spectrum disorder
## ... | [] | 11/1/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
grin1-ndd | grin1-ndd | [
"GRIN1-Related Developmental and Epileptic Encephalopathy",
"GRIN1-Related Developmental and Epileptic Encephalopathy",
"Glutamate receptor ionotropic, NMDA 1",
"GRIN1",
"GRIN1-Related Neurodevelopmental Disorder"
] | Konrad Platzer, Johannes R Lemke | Summary The diagnosis of Once the | ## Diagnosis
Formal diagnostic criteria for
Mild-to-profound developmental delay or intellectual disability
AND
Any of the following presenting in infancy or childhood:
Epilepsy
Muscular tone abnormalities such as hypotonia and spasticity
Dystonic, dyskinetic, or choreiform movement disorder
Autism spectrum d... | [] | 20/6/2019 | 1/4/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
grin2a-dis | grin2a-dis | [
"Glutamate receptor ionotropic, NMDA 2A",
"GRIN2A",
"GRIN2A-Related Disorders"
] | Vincent Strehlow, Kenneth A Myers, Angela T Morgan, Ingrid E Scheffer, Johannes R. Lemke | Summary The diagnosis of a | ## Diagnosis
A
Mild-to-profound developmental delay / intellectual disability; some affected individuals may be of normal intellect.
Focal epilepsy
Self-limited epilepsy with centrotemporal spikes
Developmental and/or epileptic encephalopathy (DEE/EE) with spike-wave activation in sleep (DEE/EE-SWAS)
Infantile-... | [] | 29/9/2016 | 4/7/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
grin2b | grin2b | [
"GRIN2B Encephalopathy",
"GRIN2B Encephalopathy",
"Glutamate receptor ionotropic, NMDA 2B",
"GRIN2B",
"GRIN2B-Related Neurodevelopmental Disorder"
] | Konrad Platzer, Johannes R Lemke | Summary The diagnosis of a | ## Diagnosis
Formal diagnostic criteria for
Mild-to-profound developmental delay (DD) or intellectual disability (ID); AND
Any of the following features presenting in infancy or childhood:
Epilepsy
Autism spectrum disorder / behavioral issues
Microcephaly
Muscle tone abnormalities such as hypotonia (occasional... | [] | 31/5/2018 | 25/3/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
grin2d-dee | grin2d-dee | [
"Glutamate receptor ionotropic, NMDA 2D",
"GRIN2D",
"GRIN2D-Related Developmental and Epileptic Encephalopathy"
] | Konrad Platzer, Ilona Krey, Johannes R Lemke | Summary The diagnosis of | ## Diagnosis
No consensus clinical diagnostic criteria for
Mild-to-profound developmental delay (DD) or intellectual disability (ID); AND
Any of the following presenting in infancy or childhood:
Epilepsy
Muscular tone abnormalities such as hypotonia and spasticity
Dystonic, dyskinetic, or choreiform movement di... | [
"AM Bertoli-Avella, C Beetz, N Ameziane, ME Rocha, P Guatibonza, C Pereira, M Calvo, N Herrera-Ordonez, M Segura-Castel, D Diego-Alvarez, M Zawada, KK Kandaswamy, M Werber, O Paknia, S Zielske, D Ugrinovski, G Warnack, K Kampe, MI Iurașcu, C Cozma, F Vogel, A Alhashem, J Hertecant, AM Al-Shamsi, AF Alswaid, W Eyaid... | 28/7/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
gr_22q11deletion | gr_22q11deletion | [
"22q11.2DS",
"22q11.2DS",
"Velocardiofacial Syndrome",
"Autosomal Dominant Opitz G/BBB Syndrome",
"Cayler Cardiofacial Syndrome",
"DiGeorge Syndrome",
"Conotruncal Anomaly Face Syndrome",
"Sedlackova Syndrome",
"Not applicable",
"T-box transcription factor TBX1",
"Not applicable",
"TBX1",
"2... | 22q11.2 Deletion Syndrome | Donna M McDonald-McGinn, Heather S Hain, Beverly S Emanuel, Elaine H Zackai | Summary Individuals with 22q11.2 deletion syndrome (22q11.2DS) can present with a wide range of features that are highly variable, even within families. The major clinical manifestations of 22q11.2DS include congenital heart disease, particularly conotruncal malformations (ventricular septal defect, tetralogy of Fallot... | DiGeorge syndrome
Velocardiofacial syndrome
Conotruncal anomaly face syndrome
Autosomal dominant Opitz G/BBB syndrome
Sedlackova syndrome
Cayler cardiofacial syndrome
For synonyms and outdated names see
• DiGeorge syndrome
• Velocardiofacial syndrome
• Conotruncal anomaly face syndrome
• Autosomal dominant Op... | [] | 23/9/1999 | 27/2/2020 | 8/5/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
gr_22q13_3 | gr_22q13_3 | [
"22q13.3 Deletion Syndrome",
"22q13.3 Deletion Syndrome",
"SH3 and multiple ankyrin repeat domains protein 3",
"SHANK3",
"Phelan-McDermid Syndrome-SHANK3 Related"
] | Phelan-McDermid Syndrome- | Katy Phelan, R Curtis Rogers, Luigi Boccuto | Summary Phelan-McDermid syndrome- The diagnosis of PMS- PMS- Once a 22q13.3 deletion involving | ## Diagnosis
No clinical diagnostic criteria have been established for Phelan-McDermid syndrome-
PMS-
Moderate-to-profound developmental delay (DD) or intellectual disability (ID) with absent to severely delayed speech
AND
Any of the following features presenting in infancy or childhood:
Minor dysmorphic facial... | [] | 11/5/2005 | 6/6/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
gr_3ms | gr_3ms | [
"Three M Syndrome",
"3M Syndrome",
"Three M Syndrome",
"3M Syndrome",
"Coiled-coil domain-containing protein 8",
"Cullin-7",
"Obscurin-like protein 1",
"CCDC8",
"CUL7",
"OBSL1",
"3-M Syndrome"
] | 3-M Syndrome | Rhoda Akilapa, Melita Irving, Muriel Holder-Espinasse | Summary 3-M syndrome is characterized by severe pre- and postnatal growth deficiency (final height five standard deviations below the mean), characteristic facies (relative macrocephaly, dolichocephaly, triangular face, midface retrusion, thick eyebrows, fleshy nasal tip, long philtrum, thick vermilion of the upper and... | ## Diagnosis
No consensus clinical diagnostic criteria for 3-M syndrome have been published.
3-M syndrome
The diagnosis of 3-M syndrome
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 a... | [] | 25/3/2002 | 27/2/2025 | 24/10/2018 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
gsd1 | gsd1 | [
"GSDI",
"Glucose-6-phosphatase catalytic subunit 1",
"Glucose-6-phosphate exchanger SLC37A4",
"G6PC1",
"SLC37A4",
"Glycogen Storage Disease Type I"
] | Glycogen Storage Disease Type I | Deeksha S Bali, Areeg El-Gharbawy, Stephanie Austin, Surekha Pendyal, Priya S Kishnani | Summary Glycogen storage disease type I (GSD I) is characterized by accumulation of glycogen and fat in the liver and kidneys resulting in hepatomegaly and nephromegaly. Severely affected infants present in the neonatal period with severe hypoglycemia due to fasting intolerance. More commonly, untreated infants present... | ## Diagnosis
The two major subtypes of glycogen storage disease type I (GSD I) are:
The lack of either G6Pase catalytic activity or glucose-6-phosphate exchanger SLC37A4 (transporter) activity in the liver leads to inadequate conversion of glucose-6-phosphate into glucose through normal glycogenolysis and gluconeogen... | [] | 19/4/2006 | 14/10/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
gsd2 | gsd2 | [
"Acid Alpha-Glucosidase Deficiency",
"Acid Maltase Deficiency",
"GAA Deficiency",
"Glycogenosis Type II",
"Glycogen Storage Disease Type II (GSD II)",
"Acid Alpha-Glucosidase Deficiency",
"Acid Maltase Deficiency",
"GAA Deficiency",
"Glycogen Storage Disease Type II (GSD II)",
"Glycogenosis Type I... | Pompe Disease | Ethan Sperry, Nancy Leslie, Lisa Berry, Loren Pena | Summary Pompe disease can be classified by age of onset, organ involvement, severity, and rate of progression into infantile-onset Pompe disease (IOPD) (i.e., individuals with onset before age 12 months with cardiomyopathy) and late-onset Pompe disease (LOPD) (i.e., individuals with onset before age 12 months without c... | ## Diagnosis
Pompe disease can be classified by age of onset, organ involvement, severity, and rate of progression:
Individuals with onset before age 12 months without cardiomyopathy
All individuals with onset after age 12 months
A diagnosis of Pompe disease may be suspected due to an
NBS for Pompe disease is pr... | [] | 31/8/2007 | 21/8/2025 | 5/8/2008 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
gsd3 | gsd3 | [
"Cori Disease",
"Debrancher Deficiency",
"Forbes Disease",
"Glycogen Debranching Enzyme (GDE) Deficiency",
"Cori Disease",
"Debrancher Deficiency",
"Forbes Disease",
"Glycogen Debranching Enzyme (GDE) Deficiency",
"Glycogen Storage Disease Type IIIa (GSD IIIa)",
"Glycogen Storage Disease Type IIIb... | Glycogen Storage Disease Type III | Andrea B Schreuder, Alessandro Rossi, Sarah C Grünert, Terry GJ Derks | Summary Glycogen storage disease type III (GSD III) is characterized by variable liver, cardiac muscle, and skeletal muscle involvement. GSD IIIa is the most common subtype, present in about 85% of affected individuals; it manifests with liver and muscle involvement. GSD IIIb, with liver involvement only, comprises abo... | GSD IIIa (~85% of all GSD III). Liver and muscle involvement, resulting from enzyme deficiency in both liver and muscle
GSD IIIb (~15% of all GSD III). Only liver involvement, resulting from enzyme deficiency in liver only
For synonyms and outdated names see
• GSD IIIa (~85% of all GSD III). Liver and muscle involve... | [
"SL Austin, AD Proia, MJ Spencer-Manzon, J Butany, SB Wechsler, PS Kishnani. Cardiac pathology in glycogen storage disease type III.. JIMD Rep 2012;6:65-72",
"Y Bao, TL Dawson, YT Chen. Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5' flanking region.. ... | 9/3/2010 | 6/1/2022 | 15/3/2011 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
gsd4 | gsd4 | [
"Andersen Disease",
"Glycogen Branching Enzyme Deficiency",
"Glycogen Storage Disease IV",
"GSD IV",
"Glycogen Storage Disease IV",
"Glycogen Branching Enzyme Deficiency",
"Andersen Disease",
"GSD IV",
"1,4-alpha-glucan-branching enzyme",
"GBE1",
"Glycogen Storage Disease Type IV"
] | Glycogen Storage Disease Type IV | Pilar L Magoulas, Ayman W El-Hattab | Summary The clinical manifestations of glycogen storage disease type IV (GSD IV) discussed in this entry span a continuum of different subtypes with variable ages of onset, severity, and clinical features. Clinical findings vary extensively both within and between families. The The Infants with the Children with the Th... | ## Diagnosis
The diagnosis of glycogen storage disease type IV (GSD IV) is suspected based on the clinical presentation and the finding of abnormally branched glycogen accumulation in muscle or liver tissue. The diagnosis is confirmed by the demonstration of glycogen branching enzyme (GBE) deficiency in liver, muscle,... | [
"HO Akman, O Kakhlon, J Coku, L Peverelli, H Rosenmann. RozensteinTsalkovich L, Turnbull J, Meiner V, Chama L, Lerer I, Shpitzen S, Leitersdorf E, Paradas C, Wallace M, Schiffmann R, Dimauro S, Lossos A, Minassian BA. Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body dise... | 3/1/2013 | 1/8/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
gsd5 | gsd5 | [
"Glycogenosis Type V",
"GSDV",
"McArdle Disease",
"Muscle Glycogen Phosphorylase Deficiency",
"Myophosphorylase Deficiency",
"PYGM Deficiency",
"Glycogenosis Type V",
"GSDV",
"McArdle Disease",
"Muscle Glycogen Phosphorylase Deficiency",
"Myophosphorylase Deficiency",
"PYGM Deficiency",
"Gly... | Glycogen Storage Disease Type V | Miguel A Martín, Alejandro Lucia, Joaquin Arenas, Antonio L Andreu | Summary Glycogen storage disease type V (GSDV, McArdle disease) is a metabolic myopathy characterized by exercise intolerance manifested by rapid fatigue, myalgia, and cramps in exercising muscles. Symptoms are usually precipitated by isometric exercise or sustained aerobic exercise. Most individuals improve their exer... | ## Diagnosis
Glycogen storage disease type V
Childhood onset of exercise-induced muscle contractures and pain, especially during the first approximately ten minutes of exercise. Although symptoms are frequently noted in physical education classes or on the school playground, their significance is not usually recogn... | [
"ST Andersen, M Dunø, M Schwartz, J Vissing. Do carriers of PYGM mutations have symptoms of McArdle disease?. Neurology. 2006;67:716-8",
"G Bollig. McArdle's disease (glycogen storage disease type V) and anesthesia--a case report and review of the literature.. Paediatr Anaesth 2013;23:817-23",
"JP Buckley, RM Q... | 19/4/2006 | 20/6/2019 | 8/5/2006 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
gsd6 | gsd6 | [
"GSD VI",
"GSD VI",
"Glycogen phosphorylase, liver form",
"PYGL",
"Glycogen Storage Disease Type VI"
] | Glycogen Storage Disease Type VI | Emma Labrador, David A Weinstein | Summary Glycogen storage disease type VI (GSD VI) is a disorder of glycogenolysis caused by deficiency of hepatic glycogen phosphorylase. This critical enzyme catalyzes the rate-limiting step in glycogen degradation, and deficiency of the enzyme in the untreated child is characterized by hepatomegaly, poor growth, keto... | ## Diagnosis
Glycogen storage disease type VI (formerly known as Hers disease) is a disorder affecting hepatic glycogenolysis due to a deficiency of glycogen phosphorylase. This critical enzyme catalyzes the rate-limiting step in glycogen degradation.
Glycogen storage disease type VI (GSD VI)
Hepatomegaly
Poor grow... | [] | 23/4/2009 | 27/11/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
gsd9 | gsd9 | [
"Glycogen Storage Disease Type IX",
"GSDIX",
"PhK Deficiency",
"Phosphorylase b Kinase Deficiency",
"GSDIX",
"Phosphorylase b Kinase Deficiency",
"PhK Deficiency",
"Glycogen Storage Disease Type IX",
"Muscle Phosphorylase Kinase Deficiency",
"Liver Phosphorylase Kinase Deficiency",
"Phosphorylas... | Phosphorylase Kinase Deficiency | Mrudu Herbert, Jennifer L Goldstein, Catherine Rehder, Stephanie Austin, Priya S Kishnani, Deeksha S Bali | Summary Phosphorylase kinase (PhK) deficiency causing glycogen storage disease type IX (GSD IX) results from deficiency of the enzyme phosphorylase b kinase, which has a major regulatory role in the breakdown of glycogen. The two types of PhK deficiency are The enzyme PhK comprises four copies each of four subunits (α,... | Liver phosphorylase kinase deficiency
Muscle phosphorylase kinase deficiency
For synonyms and outdated names see
For other genetic causes of these phenotypes see
• Liver phosphorylase kinase deficiency
• Muscle phosphorylase kinase deficiency
## Diagnosis
Phosphorylase kinase deficiency causing glycogen storage ... | [] | 31/5/2011 | 1/11/2018 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
h1-4 | h1-4 | [
"Rahman Syndrome",
"Rahman Syndrome",
"Histone H1.4",
"H1-4",
"HIST1H1E Syndrome"
] | HIST1H1E Syndrome | Deepika Burkardt, Katrina Tatton-Brown | Summary The name HIST1H1E syndrome has been proposed as a mnemonic for the characteristic features of this emerging, recognizable phenotype: The diagnosis of HIST1H1E syndrome is established in a proband with suggestive findings and a heterozygous pathogenic variant in HIST1H1E syndrome is an autosomal dominant disorde... | ## Diagnosis
No consensus clinical diagnostic criteria for HIST1H1E syndrome have been published.
HIST1H1E syndrome
Generalized hypotonia of infancy
Characteristic facial features including [
In early childhood, full cheeks and a high hairline, bitemporal narrowing, deep-set eyes, downslanting palpebral fissures, ... | [
"DD Burkardt, A Zachariou, C Loveday, CL Allen, DJ Amor, A Ardissone, S Banka, A Bourgois, C Coubes, C Cytrynbaum, L Faivre, G Marion, R Horton, D Kotzot, G Lay-Son, M Lees, K Low, HM Luk, P Mark, A McConkie-Rosell, M McDonald, J Pappas, C Phillipe, D Shears, B Skotko, F Stewart, H Stewart, IK Temple, FT Mau-Them, ... | 3/12/2020 | 15/12/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
haplo-a20 | haplo-a20 | [
"HA20",
"HA20",
"Tumor necrosis factor alpha-induced protein 3",
"TNFAIP3",
"Haploinsufficiency of A20"
] | Haploinsufficiency of A20 | Natalie T Deuitch, Daniella M Schwartz, Ivona Aksentijevich | Summary Haploinsufficiency of A20 (HA20), a complex immune dysregulation disease, is characterized by recurrent systemic immune dysfunction (i.e., inflammation and/or immune deficiency). The most common manifestations and their frequency include: (1) recurrent painful oral/genital ulcers, typically during disease flare... | ## Diagnosis
No consensus diagnostic criteria for haploinsufficiency of A20 (HA20) have been published.
HA20
Mean age of onset is 7 years (range: 1st week of life to age 39 years) [
Note: Because of variable expressivity, manifestations during early childhood may not have been reported to a health care professi... | [] | 19/12/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
hartsfield | hartsfield | [
"Fibroblast growth factor receptor 1",
"FGFR1",
"FGFR1-Related Hartsfield Syndrome"
] | Radhika Dhamija, Dusica Babovic-Vuksanovic | Summary HPE spectrum disorder, resulting from failed or incomplete forebrain division early in gestation, includes alobar, semilobar, or lobar HPE. Other observed midline brain malformations include corpus callosum agenesis, absent septum pellucidum, absent olfactory bulbs and tracts, and vermian hypoplasia. Other find... | ## Diagnosis
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 [
Molecular genetic testing approaches ... | [] | 3/3/2016 | 2/12/2021 | 12/5/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
hcp | hcp | [
"Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial",
"CPOX",
"Hereditary Coproporphyria"
] | Hereditary Coproporphyria | Bruce Wang, D Montgomery Bissell | Summary Hereditary coproporphyria (HCP) is an acute (hepatic) porphyria in which the acute symptoms are neurovisceral and occur in discrete episodes. Attacks typically start in the abdomen with low-grade pain that slowly increases over a period of days (not hours) with nausea progressing to vomiting. In some individual... | ## Diagnosis
Hereditary coproporphyria (HCP) is classified as both an acute (hepatic) porphyria (with neurologic manifestations that occur as discrete, severe episodes) and a chronic (cutaneous) porphyria with long-standing photosensitivity.
Diagnostic criteria for HCP have been published [
Acute hepatic porphyria
... | [
"N Aggarwal, R Bagga, H Sawhney, V Suri, K Vasishta. Pregnancy with acute intermittent porphyria: a case report and review of literature.. J Obstet Gynaecol Res. 2002;28:160-2",
"R Akagi, R Inoue, S Muranaka, T Tahara, S Taketani, KE Anderson, JD Phillips, S Sassa. Dual gene defects involving delta-aminolaevulina... | 13/12/2012 | 8/11/2018 | 19/5/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
hd-l2 | hd-l2 | [
"Junctophilin-3",
"JPH3",
"Huntington Disease-Like 2"
] | Huntington Disease-Like 2 | David G Anderson, Amanda Krause, Russell L Margolis | Summary Huntington disease-like 2 (HDL2) typically presents in midlife with a relentless progressive triad of movement, emotional, and cognitive abnormalities that lead to death within ten to 20 years. HDL2 cannot be differentiated from Huntington disease (HD) clinically. Neurologic abnormalities include chorea, hypoki... | ## Diagnosis
Huntington disease-like 2 (HDL2)
Progressive motor disability featuring involuntary movements (especially chorea) and affecting voluntary movement (e.g., gait, speech, swallowing). Rigidity and bradykinesia may predominate in the later stages of the disease.
Psychiatric disturbances including changes ... | [] | 30/1/2004 | 10/4/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
hdls | hdls | [
"Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis (BANDDOS)",
"Pigmentary Orthochromatic Leukodystrophy (POLD)",
"Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP)",
"Hereditary Diffuse Leukoencephalopathy with Spheroids (HDLS)",
"CSF1R-Related Leukoencephalopathy"... | Jaroslaw Dulski, Christina Sundal, Zbigniew K Wszolek | Summary The spectrum of The diagnosis of Early-onset Once the | Neurologic manifestations
Skeletal abnormalities
Nonspecific dysmorphic facial features
Congenital brain abnormalities
Adult-onset leukoencephalopathy w/axonal spheroids & pigmented glia (ALSP)
Pigmentary orthochromatic leukodystrophy (POLD)
Hereditary diffuse leukoencephalopathy w/spheroids (HDLS)
Adapted from
... | [] | 30/8/2012 | 4/4/2024 | 17/1/2013 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
hemo-a | hemo-a | [
"Factor VIII Deficiency",
"Factor VIII Deficiency",
"Coagulation factor VIII",
"F8",
"Hemophilia A"
] | Hemophilia A | Barbara A Konkle, Shelley Nakaya Fletcher | Summary Hemophilia A is characterized by deficiency in factor VIII clotting activity that results in prolonged bleeding after injuries, tooth extractions, or surgery, and delayed or recurrent bleeding prior to complete wound healing. The age of diagnosis and frequency of bleeding episodes are related to the level of fa... | ## Diagnosis
Hemophilia A
Hemarthrosis, especially with mild or no antecedent trauma
Deep-muscle hematomas
Intracranial bleeding in the absence of major trauma
Neonatal cephalohematoma or intracranial bleeding
Prolonged bleeding or renewed bleeding after initial bleeding stops following tooth extractions, mouth... | [] | 21/9/2000 | 7/8/2025 | 27/7/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
hemo-b | hemo-b | [
"Christmas Disease",
"Factor IX Deficiency",
"Christmas Disease",
"Factor IX Deficiency",
"Coagulation factor IX",
"F9",
"Hemophilia B"
] | Hemophilia B | Barbara A Konkle, Shelley Nakaya Fletcher | Summary Hemophilia B is characterized by deficiency in factor IX clotting activity that results in prolonged oozing after injuries, tooth extractions, or surgery, and delayed or recurrent bleeding prior to complete wound healing. The age of diagnosis and frequency of bleeding episodes are related to the level of factor... | ## Diagnosis
For the purposes of this
Hemophilia B
Hemarthrosis, especially with mild or no antecedent trauma
Deep-muscle hematomas
Intracranial bleeding in the absence of major trauma
Neonatal cephalohematoma or intracranial bleeding
Prolonged oozing or renewed bleeding after initial bleeding stops following ... | [] | 2/10/2000 | 7/8/2025 | 6/6/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
hemochromatosis | hemochromatosis | [
"HFE-Associated Hemochromatosis",
"HFE-Associated Hemochromatosis",
"Hereditary hemochromatosis protein",
"HFE",
"HFE-Related Hemochromatosis"
] | James C Barton, Charles J Parker | Summary The diagnosis of | ## Diagnosis
In 2022, a new classification of hemochromatosis based on genetic and clinical manifestations was proposed by an expert group, although this classification excludes persons who have loss-of-function
For the purposes of this
Weakness, chronic fatigue
Abdominal pain, weight loss
Arthropathy (especia... | [] | 3/4/2000 | 11/4/2024 | 13/7/2005 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
hep | hep | [
"UROD-Related Hepatoerythropoietic Porphyria",
"UROD-Related Hepatoerythropoietic Porphyria",
"Uroporphyrinogen decarboxylase",
"UROD",
"Hepatoerythropoietic Porphyria"
] | Hepatoerythropoietic Porphyria | Sean Rudnick, John Phillips, Herbert Bonkovsky | Summary Hepatoerythropoietic porphyria (HEP) is characterized by blistering skin lesions, hypertrichosis, and scarring over the affected skin areas. Disease manifestations occur during infancy or childhood and with similar frequency in females and males. Mild anemia/hemolysis are not uncommon. The diagnosis of HEP is e... | ## Diagnosis
Hepatoerythropoietic porphyria (HEP)
Blistering skin lesions/vesicles/bullae
Hypertrichosis
Scarring
Passage of red urine
Note: The features of HEP generally resemble those of
Urine and plasma porphyrins show an increase predominantly of uroporphyrin and heptacarboxylporphyrin.
Consider erythrocy... | [
"AK Aarsand, H Boman, S Sandberg. Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies.. Clin Chem 2009;55:795-803",
"K Beer, D Applebaum, C. Nousari. Pseudoporphyria: discussion of etiologic agents.. J Drugs Dermatol. 2014;13:990-2",
"LG Biesecker, MP Adam, FS Alkuraya, AR ... | 31/10/2013 | 22/12/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
hepatic-fibrosis | hepatic-fibrosis | [
"ADP-ribosylation factor-like protein 13B",
"ADP-ribosylation factor-like protein 6",
"Ankyrin repeat and SAM domain-containing protein 6",
"B9 domain-containing protein 1",
"B9 domain-containing protein 2",
"Bardet-Biedl syndrome 1 protein",
"Bardet-Biedl syndrome 10 protein",
"Bardet-Biedl syndrome ... | Congenital Hepatic Fibrosis Overview ─ RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY | Meral Gunay-Aygun, William A Gahl, Theo Heller | Summary Congenital hepatic fibrosis (CHF) is a developmental disorder of the portobiliary system characterized histologically by defective remodeling of the ductal plate (ductal plate malformation; DPM), abnormal branching of the intrahepatic portal veins, and progressive fibrosis of the portal tracts. CHF may or may ... | ## Definition
Congenital hepatic fibrosis (CHF) is a histopathologic diagnosis that refers to a developmental disorder of the portobiliary system characterized by the following [
Defective remodeling of the ductal plate (ductal plate malformation; DPM)
Abnormal branching of the intrahepatic portal veins
Progressive... | [
"NA Adams, A Awadein, HS Toma. The retinal ciliopathies.. Ophthalmic Genet 2007;28:113-25",
"M Adeva, M El-Youssef, S Rossetti, PS Kamath, V Kubly, MB Consugar, DM Milliner, BF King, VE Torres, PC Harris. Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney... | 9/12/2008 | 24/4/2014 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
hered-drta | hered-drta | [
"Classic Renal Tubular Acidosis",
"Type 1 RTA",
"Type 1 RTA",
"Classic Renal Tubular Acidosis",
"Band 3 anion transport protein",
"Forkhead box protein I1",
"V-type proton ATPase 116 kDa subunit a 4",
"V-type proton ATPase subunit B, kidney isoform",
"WD repeat-containing protein 72",
"ATP6V0A4",
... | Hereditary Distal Renal Tubular Acidosis | R Todd Alexander, Helena Gil-Peña, Larry A Greenbaum, Fernando Santos | Summary Individuals with hereditary distal renal tubular acidosis (dRTA) typically present in infancy with poor weight gain and growth deficiency, although later presentations can occur, especially in individuals with autosomal dominant The diagnosis of hereditary dRTA is established in a proband with dRTA and bialleli... | ## Diagnosis
A clinical diagnosis for hereditary distal renal tubular acidosis (dRTA) can be established in an individual with early-onset dRTA if secondary causes of dRTA (e.g., autoimmune diseases or medications) can be excluded.
Hereditary dRTA
Poor weight gain and growth deficiency in childhood
Sensorineural ... | [] | 10/10/2019 | 3/4/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
hfg | hfg | [
"HFGS",
"HFG Syndrome",
"HFGS",
"HFG Syndrome",
"Homeobox protein Hox-A13",
"HOXA13",
"Hand-Foot-Genital Syndrome"
] | Hand-Foot-Genital Syndrome | Jeffrey W Innis | Summary Hand-foot-genital syndrome (HFGS) is characterized by limb malformations and urogenital defects. Mild-to-severe bilateral shortening of the thumbs and great toes, caused primarily by shortening of the distal phalanx and/or the first metacarpal or metatarsal, is the most common limb malformation and results in i... | ## Diagnosis
Hand-foot-genital syndrome
Limited metacarpophalangeal flexion of the thumb or limited ability to oppose the thumb and fifth finger
Hypoplastic thenar eminences
Hallus valgus of the distal phalanx of the great toe is common; hallux varus can be observed associated with significant metatarsal shortening... | [] | 11/7/2006 | 8/8/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
hfi | hfi | [
"Fructose-bisphosphate aldolase B",
"ALDOB",
"Hereditary Fructose Intolerance"
] | Hereditary Fructose Intolerance | Sommer Gaughan, Lachlan Ayres, Peter R Baker | Summary Following dietary exposure to fructose, sucrose, or sorbitol, untreated hereditary fructose intolerance (HFI) is characterized by metabolic disturbances (hypoglycemia, lactic acidemia, hypophosphatemia, hyperuricemia, hypermagnesemia, hyperalaninemia) and clinical findings (nausea, vomiting, and abdominal distr... | ## Diagnosis
No consensus clinical diagnostic criteria for hereditary fructose intolerance (HFI) have been published.
HFI
Note that the clinical presentation of HFI can be multifaceted and nonspecific, making it difficult to suspect based on clinical findings alone. If HFI is suspected, potential sources of fructose... | [
"M Adamowicz, R Płoski, D Rokicki, E Morava, M Gizewska, H Mierzewska, A Pollak, DJ Lefeber, RA Wevers, E Pronicka. Transferrin hypoglycosylation in hereditary fructose intolerance: using the clues and avoiding the pitfalls.. J Inherit Metab Dis. 2007;30:407",
"L Aldámiz-Echevarría, J de Las Heras, ML Couce, C Al... | 17/12/2015 | 18/2/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
hfpoik-tmp | hfpoik-tmp | [
"POIKTMP",
"POIKTMP",
"Serine protease FAM111B",
"FAM111B",
"Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis"
] | Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis | Sandra Mercier, Sébastien Küry, Sébastien Barbarot | Summary Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is characterized by the skin findings of poikiloderma (typically beginning in the first six months and mainly localized to the face), hypohidrosis with heat intolerance, mild lymphedema of the extremities, chr... | ## Diagnosis
Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP)
Skin (
Early-onset poikiloderma (characterized by erythema of the cheeks and face, skin atrophy, telangiectasias, and mottled pigmentation)
Hypotrichosis with sparse scalp hair, sparse or absent eye... | [
"R Aviner, A Shenoy, O Elroy-Stein, T Geiger. Uncovering hidden layers of cell cycle regulation through integrative multi-omic analysis.. PLoS Genet. 2015;11",
"E Chasseuil, JA McGrath, A Seo, X Balguerie, N Bodak, H Chasseuil, M Denis-Musquer, A Goldenberg, R Goussot, AD Irvine, NP Khumalo, MC King, S Küry, D Li... | 13/10/2016 | 5/8/2021 | 9/9/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
hgc | hgc | [
"DGLBCS",
"Hereditary Diffuse Gastric Cancer (HDGC)",
"Hereditary Diffuse Gastric Cancer (HDGC)",
"DGLBCS",
"Cadherin-1",
"Catenin alpha-1",
"CDH1",
"CTNNA1",
"Diffuse Gastric and Lobular Breast Cancer Syndrome"
] | Diffuse Gastric and Lobular Breast Cancer Syndrome | Rita Barbosa-Matos, Lilian Córdova, Kasmintan Schrader, Carla Oliveira | Summary Diffuse gastric and lobular breast cancer syndrome (DGLBCS) is associated with an increased risk, in males and females, of diffuse gastric cancer (DGC), a poorly differentiated adenocarcinoma (also referred to as signet ring cell carcinoma or isolated cell-type carcinoma) that infiltrates into the stomach wall,... | ## Diagnosis
Consensus genetic testing criteria for diffuse gastric and lobular breast cancer syndrome (DGLBCS), also known as hereditary diffuse gastric cancer (HDGC), have been published [
DGLBCS
Diffuse gastric cancer (DGC) diagnosed at age <50 years
DGC in an individual of Māori ethnicity diagnosed at any age... | [] | 4/11/2002 | 10/10/2024 | 31/8/2006 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
hgps | hgps | [
"Hutchinson-Gilford Progeria Syndrome, Nonclassic Genotypes",
"Hutchinson-Gilford Progeria Syndrome, Classic Genotype",
"Prelamin-A/C",
"LMNA",
"Hutchinson-Gilford Progeria Syndrome"
] | Hutchinson-Gilford Progeria Syndrome | Leslie B Gordon, W Ted Brown, Francis S Collins | Summary Hutchinson-Gilford progeria syndrome (HGPS) is characterized in the first year of life by growth deficiency, lagophthalmos, hair loss, delayed and incomplete primary tooth eruption, subcutaneous fat loss, and areas of abnormal skin (tightness, stippling, and/or small outpouchings over the abdomen and upper thig... | Hutchinson-Gilford progeria syndrome, classic genotype
Hutchinson-Gilford progeria syndrome, nonclassic genotypes
For synonyms and outdated names see
• Hutchinson-Gilford progeria syndrome, classic genotype
• Hutchinson-Gilford progeria syndrome, nonclassic genotypes
## Diagnosis
The clinical diagnosis of Hutchin... | [] | 12/12/2003 | 13/3/2025 | 19/10/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
hhhs | hhhs | [
"HHH Syndrome, ORNT1 Deficiency",
"HHH Syndrome",
"ORNT1 Deficiency",
"Mitochondrial ornithine transporter 1",
"SLC25A15",
"Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome"
] | Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome | Jose Camacho, Natalia Rioseco-Camacho | Summary Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a disorder of the urea cycle and ornithine degradation pathway. Clinical manifestations and age of onset vary among individuals even in the same family. Chronic neurocognitive deficits (including developmental delay, ataxia, spasticity, learni... | ## Diagnosis
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome should be suspected in symptomatic individuals with the following age-related clinical, laboratory, and neuroimaging findings.
Note: (1) In HHH syndrome the degree of hyperammonemia is usually significantly less than in other urea cycle di... | [] | 31/5/2012 | 13/2/2020 | 10/4/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
hht | hht | [
"HHT",
"Osler-Weber-Rendu Disease",
"Osler-Weber-Rendu Disease",
"HHT",
"Activin receptor type-1-like",
"Endoglin",
"Mothers against decapentaplegic homolog 4",
"ACVRL1",
"ENG",
"SMAD4",
"Hereditary Hemorrhagic Telangiectasia"
] | Hereditary Hemorrhagic Telangiectasia | Jamie McDonald, David A Stevenson | Summary Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. The most common clinical manifestation is spontaneous and recurrent nosebleeds (epistaxis) be... | ## Diagnosis
According to published consensus clinical diagnostic criteria, the diagnosis of HHT is considered "definite" in an individual with
Hereditary hemorrhagic telangiectasia (HHT)
The clinical diagnosis of HHT can be
Note: (1) The application of clinical diagnostic criteria to children at risk for HHT can f... | [
"OS Aassar, CM Friedman, RI White. The natural history of epistaxis in hereditary hemorrhagic telangiectasia.. Laryngoscope. 1991;101:977-80",
"SA Abdalla, M Letarte. Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.. J Med Genet 2006;43:97-110",
"P Bayrak-Toydemir, J ... | 26/6/2000 | 24/11/2021 | 16/3/2004 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
hi | hi | [
"Congenital Hyperinsulinism (CHI)",
"Familial Hyperinsulinism",
"Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI)",
"Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI)",
"Congenital Hyperinsulinism (CHI)",
"Familial Hyperinsulinism",
"ATP-binding cassette sub-family C member 8",
"ATP... | Nonsyndromic Genetic Hyperinsulinism Overview | David Gillis | Summary The purpose of this overview is to: Describe the Review the Provide an Inform (when possible) Inform | ## Clinical Characteristics of Nonsyndromic Genetic Hyperinsulinism
Nonsyndromic genetic hyperinsulinism (HI) is characterized by hypoglycemia that ranges from severe neonatal onset to childhood onset with mild symptoms. Neonatal-onset disease manifests within hours to days after birth. In the newborn period, present... | [] | 19/8/2003 | 31/10/2024 | 15/6/2010 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
higes | higes | [
"Job Syndrome",
"STAT3-Deficient Hyper-IgE Syndrome",
"STAT3 Deficiency",
"STAT3-HIES",
"STAT3 Loss-of-Function Hyper-IgE Syndrome (STAT3 LOF HIES)",
"Job Syndrome",
"STAT3 Deficiency",
"STAT3-Deficient Hyper-IgE Syndrome (STAT3-HIES)",
"STAT3 Loss-of-Function Hyper-IgE Syndrome (STAT3 LOF HIES)",
... | Amy P Hsu, Joie Davis, Jennifer M Puck, Steven M Holland, Alexandra F Freeman | Summary The diagnosis of | ## Diagnosis
Newborn rash and typically eczematous rash at least through childhood
Recurrent skin boils (often "cold," manifesting little inflammatory reaction)
Cyst-forming pneumonias
Mucocutaneous candidiasis
Nonimmune features such as three or more retained primary teeth, scoliosis, bone fractures following min... | [
"M Arora, P Bagi, A Strongin, J Heimall, X Zhao, MG Lawrence, A Trivedi, C Henderson, A Hsu, M Quezado, DE Kleiner, AM Venkatesan, SM Holland, AF Freeman, T Heller. Gastrointestinal manifestations of STAT3 deficient hyper IgE syndrome.. J Clin Immunol. 2017;37:695-700",
"WG Borges, T Hensley, JC Carey, BA Petrak,... | 23/2/2010 | 26/3/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
hirschsprung-ov | hirschsprung-ov | [
"Aganglionic Megacolon",
"HSCR",
"Aganglionic Megacolon",
"HSCR",
"7-dehydrocholesterol reductase",
"Brain-derived neurotrophic factor",
"Elongator complex protein 1",
"Endothelin receptor type B",
"Endothelin-3",
"Endothelin-converting enzyme 1",
"Glial cell line-derived neurotrophic factor",
... | Hirschsprung Disease Overview – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY | Melissa A Parisi | Summary Hirschsprung disease (HSCR), or congenital intestinal aganglionosis, is a birth defect characterized by complete absence of neuronal ganglion cells from a portion of the intestinal tract. The aganglionic segment includes the distal rectum and a variable length of contiguous proximal intestine. In 80% of indivi... | ## Definition
Hirschsprung disease (HSCR), or congenital intestinal aganglionosis, is a birth defect characterized by complete absence of neuronal ganglion cells from a portion of the intestinal tract. The aganglionic segment includes the distal rectum and a variable length of contiguous proximal intestine.
In 80% of... | [
"FS Alkuraya, AE Lin, MB Irons, VE Kimonis. Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement.. Am J Med Genet A 2005;132A:226-30",
"J Amiel, Y Espinosa-Parrilla, J Steffann, P Gosset, A Pelet, M Prieur, O Boute, A Choiset, D Lacombe, N Philip, M Le Merrer, H Tanaka, M Till, ... | 12/7/2002 | 1/10/2015 | 10/11/2011 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.