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
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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
nail-ps | nail-ps | [
"LMX1B-Related Nail-Patella Syndrome",
"Fong Syndrome",
"LMX1B-Related Nail-Patella Syndrome",
"LIM homeobox transcription factor 1-beta",
"LMX1B",
"Nail-Patella Syndrome"
] | Nail-Patella Syndrome | Elizabeth Sweeney, Julie E Hoover-Fong, Iain McIntosh | Summary Nail-patella syndrome (NPS) (previously referred to as Fong's disease), encompasses the classic clinical tetrad of changes in the nails, knees, and elbows, and the presence of iliac horns. Nail changes are the most constant feature of NPS. Nails may be absent, hypoplastic, or dystrophic; ridged longitudinally o... | ## Diagnosis
Formal clinical diagnostic criteria for nail-patella syndrome (NPS) have not been published, although iliac horns (bilateral, conical, bony processes that project posteriorly and laterally from the central part of the iliac bones of the pelvis) are considered pathognomonic.
Nail-patella syndrome (NPS)
... | [] | 31/5/2003 | 15/10/2020 | 14/12/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
narp | narp | [
"mtDNA-Associated Leigh Syndrome Spectrum",
"mtDNA-Associated Leigh Syndrome Spectrum",
"ATP synthase F(0) complex subunit a",
"Cytochrome c oxidase subunit 1",
"Cytochrome c oxidase subunit 2",
"Cytochrome c oxidase subunit 3",
"NADH-ubiquinone oxidoreductase chain 1",
"NADH-ubiquinone oxidoreductase... | Mitochondrial DNA-Associated Leigh Syndrome Spectrum | Megan Ball, David R Thorburn, Shamima Rahman | Summary Mitochondrial DNA-associated Leigh syndrome spectrum (mtDNA-LSS) is part of a continuum of progressive neurodegenerative disorders caused by abnormalities of mitochondrial energy generation, which includes the overlapping phenotypes mtDNA-associated Leigh syndrome and mtDNA-associated Leigh-like syndrome. Mitoc... | ## Diagnosis
Diagnostic criteria for Leigh syndrome spectrum (LSS) have been published [
Progressive neurologic disease with developmental delay and neurodevelopmental regression
Manifestations of brain stem and/or basal ganglia disease (e.g., respiratory abnormalities, nystagmus, ophthalmoparesis, optic atrophy, ... | [] | 30/10/2003 | 9/5/2024 | 4/5/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
nars1 | nars1 | [
"NARS1-Related Neurodevelopmental Disorder (NARS1-NDD)",
"NARS1-Related Hereditary Neuropathy",
"Asparagine--tRNA ligase, cytoplasmic",
"NARS1",
"NARS1-Related Neurologic Disorders"
] | Stephanie Efthymiou, Sara Nagy, Busra Aynekin, Henry Houlden | Summary To date, 54 individuals from 30 families with The diagnosis of a Once the | ## Diagnosis
No consensus clinical diagnostic criteria for
A
Gross motor delay (mild/moderate to severe)
Intellectual disability (moderate to profound)
Speech and language delays (most often severe delays; absence of language development in some)
Fine motor delay (moderate to severe)
Axonal sensorimotor ... | [] | 27/2/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
nbia-ov | nbia-ov | [
"NBIA",
"Aceruloplasminemia",
"Neuroferritinopathy",
"Pantothenate Kinase-Associated Neurodegeneration",
"Fatty Acid Hydroxylase-Associated Neurodegeneration",
"PLA2G6-Associated Neurodegeneration",
"Mitochondrial Membrane Protein-Associated Neurodegeneration",
"Woodhouse-Sakati Syndrome",
"Kufor-Ra... | Neurodegeneration with Brain Iron Accumulation Disorders Overview | Allison Gregory, Manju A Kurian, Jenny Wilson, Susan Hayflick | Summary The purpose of this overview is to: Briefly describe the Review the Review the Provide an Review high-level Inform | ## Clinical Characteristics of Neurodegeneration with Brain Iron Accumulation
Neurodegeneration with brain iron accumulation (NBIA) disorders are a group of inherited neurologic disorders characterized by abnormal accumulation of iron in the basal ganglia (most often in the globus pallidus and/or substantia nigra).
... | [] | 28/2/2013 | 6/3/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
nbs | nbs | [
"NCBRS",
"NCBRS",
"SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2",
"SMARCA2",
"SMARCA2-Related Nicolaides-Baraitser Syndrome"
] | Omar Abdul-Rahman, Francis May | Summary The diagnosis of | ## Diagnosis
Consensus clinical diagnostic criteria for
Developmental delay / intellectual disability (DD/ID), most commonly in the severe range but with some having either mild or moderate DD/ID
Sparse scalp hair
Prominence of the interphalangeal joints and distal phalanges secondary to poor subcutaneous fat dis... | [] | 15/10/2015 | 6/3/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
ncl | ncl | [
"Batten Disease",
"CLN Disease",
"NCL",
"Batten Disease",
"NCL",
"CLN Disease",
"Battenin",
"Bis(monoacylglycero)phosphate synthase CLN5",
"BTB/POZ domain-containing protein KCTD7",
"Cathepsin D",
"Cathepsin F",
"Ceroid-lipofuscinosis neuronal protein 6",
"DnaJ homolog subfamily C member 5",... | Neuronal Ceroid Lipofuscinoses Overview | Kristina Malik, Kourtney Santucci, Leighann Sremba, Maija Steenari, Andrea Miele, Scott Demarest, Ineka Whiteman | Summary The purpose of this overview is to: Briefly describe the Review the Provide an Review Inform | ## Clinical Characteristics of Neuronal Ceroid Lipofuscinoses
Neuronal ceroid lipofuscinoses (NCLs) are inherited neurodegenerative disorders caused by lysosomal accumulation of cellular ceroid lipofuscin, a waste product of lipids and proteins often found in the neurons of the retina and brain. The NCLs (commonly kn... | [] | 10/10/2001 | 29/5/2025 | 15/8/2005 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
ndi | ndi | [
"Aquaporin-2",
"Vasopressin V2 receptor",
"AQP2",
"AVPR2",
"Hereditary Nephrogenic Diabetes Insipidus"
] | Hereditary Nephrogenic Diabetes Insipidus | Nine Knoers, Henny Lemmink | Summary Hereditary nephrogenic diabetes insipidus (NDI) is characterized by inability to concentrate the urine, which results in polyuria (excessive urine production) and polydipsia (excessive thirst). Affected untreated infants usually have poor feeding and failure to thrive, and rapid onset of severe dehydration with... | ## Diagnosis
Hereditary nephrogenic diabetes insipidus (NDI)
Polyuria (excessive urine production)
Polydipsia (excessive drinking)
Family history of NDI
Note: In the first few months after birth, polyuria and polydipsia may not be immediately noticed; infants with NDI usually present with poor feeding, failure t... | [
"E Albertazzi, D Zanchetta, P Barbier, S Faranda, A Frattini, P Vezzoni, M Procaccio, A Bettinelli, F Guzzi, M Parenti, B. Chini. Nephrogenic diabetes insipidus: functional analysis of new AVPR2 mutations identified in Italian families.. J Am Soc Nephrol. 2000;11:1033-43",
"MF Arthus, M Lonergan, MJ Crumley, AK N... | 12/2/2000 | 27/2/2020 | 8/6/2007 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
nem | nem | [
"Nemaline Rod Myopathy",
"Nemaline Rod Myopathy",
"Actin, alpha skeletal muscle",
"Cofilin-2",
"Kelch repeat and BTB domain-containing protein 13",
"Kelch-like protein 40",
"Kelch-like protein 41",
"Leiomodin-3",
"Nebulin",
"Tropomyosin alpha-3 chain",
"Tropomyosin beta chain",
"Troponin T, sl... | Nemaline Myopathy – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY | Kathryn N North, Monique M Ryan | Summary Nemaline myopathy (referred to in this entry as NM) is characterized by weakness, hypotonia, and depressed or absent deep tendon reflexes. Muscle weakness is usually most severe in the face, the neck flexors, and the proximal limb muscles. The clinical classification defines six forms of NM, which are classifi... | ## Diagnosis
The term "nemaline myopathy" (NM) refers to a group of genetically distinct disorders linked by common morphologic features observed on muscle histology.
Nemaline myopathy
Weakness that is predominantly proximal and generalized with or without facial weakness. Distal weakness may occur in a subset of in... | [] | 19/6/2002 | 18/9/2014 | 11/6/2015 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
nephron-ov | nephron-ov | [
"NPHP-RC",
"NPHP-RC",
"Ankyrin repeat and SAM domain-containing protein 6",
"Centrosomal protein of 164 kDa",
"Centrosomal protein of 290 kDa",
"Centrosomal protein of 83 kDa",
"Doublecortin domain-containing protein 2",
"Intraflagellar transport protein 172 homolog",
"Inversin",
"IQ calmodulin-bi... | Nephronophthisis-Related Ciliopathies | Marijn Stokman, Marc Lilien, Nine Knoers | Summary The purpose of this overview is to: Briefly describe the Review the Review the Provide an Review Inform | ## Clinical Characteristics of Nephronophthisis-Related Ciliopathies
Nephronophthisis (NPH) is characterized by polyuria and polydipsia resulting from reduced urine-concentrating ability, chronic tubulointerstitial nephritis, and progression to end-stage kidney disease (ESKD) typically before age 30 years (although l... | [] | 23/6/2016 | 2/3/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
neuroferritin | neuroferritin | [
"Hereditary Ferritinopathy",
"Hereditary Ferritinopathy",
"Ferritin light chain",
"FTL",
"Neuroferritinopathy"
] | Neuroferritinopathy | Patrick F Chinnery | Summary Neuroferritinopathy is an adult-onset progressive movement disorder characterized by chorea or dystonia and speech and swallowing deficits. The movement disorder typically affects one or two limbs and progresses to become more generalized within 20 years of disease onset. When present, asymmetry in the movement... | ## Diagnosis
No consensus clinical diagnostic criteria for neuroferritinopathy have been published.
Neuroferritinopathy
The diagnosis of neuroferritinopathy
Note: (1) Per ACMG/AMP variant interpretation guidelines, the terms "pathogenic variant" and "likely pathogenic variant" are synonymous in a clinical setting, ... | [
"S Batey, I Vuillaume, D Devos, A Destée, AJ Curtis, A Lombes, A Curtis, J Burn, PF Chinnery. A novel FTL insertion causing neuroferritinopathy.. J Med Genet. 2010;47:71-2",
"A Batla, ME Adams, R Erro, C Ganos, B Balint, NE Mencacci, KP Bhatia. Cortical pencil lining in neuroferritinopathy: a diagnostic clue.. Ne... | 25/4/2005 | 20/10/2022 | 30/11/2006 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
nf1 | nf1 | [
"NF1",
"Von Recklinghausen Disease",
"Von Recklinghausen's Neurofibromatosis",
"NF1",
"Von Recklinghausen Disease",
"Von Recklinghausen's Neurofibromatosis",
"Neurofibromin",
"NF1",
"Neurofibromatosis 1"
] | Neurofibromatosis 1 | Jan M Friedman | Summary Neurofibromatosis 1 (NF1) is a multisystem disorder characterized by multiple café au lait macules, intertriginous freckling, multiple cutaneous neurofibromas, and learning disability or behavior problems. About half of people with NF1 have plexiform neurofibromas, but most are internal and not suspected clinic... | ## Diagnosis
Neurofibromatosis 1 (NF1)
Six or more
Freckling in the axillary or inguinal regions
Two or more
Optic pathway glioma
Two or more Lisch nodules identified by slit lamp examination or two or more choroidal abnormalities (bright, patchy nodules imaged by optical coherence tomography/near-infrared reflec... | [] | 2/10/1998 | 21/4/2022 | 3/4/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
nf2 | nf2 | [
"Neurofibromatosis 2",
"Neurofibromatosis Type II",
"Neurofibromatosis Type II",
"Neurofibromatosis 2",
"Merlin",
"NF2",
"NF2-Related Schwannomatosis"
] | D Gareth Evans | Summary The diagnosis of NF2 is established in a proband with bilateral vestibular schwannomas, an identical NF2 is inherited in an autosomal dominant manner. Approximately 50% of individuals diagnosed with NF2 have an affected parent. Approximately 50% of individuals diagnosed with NF2 have the disorder as the result ... | ## Diagnosis
Updated clinical diagnostic criteria for
NF2
A schwannoma at any location including intradermal
Skin plaques present at birth or in early childhood (often plexiform schwannoma on histology)
A meningioma, particularly non-meningothelial (non-arachnoidal) cell in origin
A cortical wedge cataract
A ret... | [] | 14/10/1998 | 20/4/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
nfia-dis | nfia-dis | [
"NFIA Haploinsufficiency",
"NFIA Haploinsufficiency",
"Nuclear factor 1 A-type",
"NFIA",
"NFIA-Related Disorder"
] | T Niroshini Senaratne, Fabiola Quintero-Rivera | Summary For the purposes of this chapter, The diagnosis of | ## Diagnosis
An
Macrocephaly
Seizures including:
Generalized tonic-clonic
Pseudo-seizures
Nonspecific seizure disorders
Hypotonia (generalized/neonatal)
Developmental delay
Frequent urinary tract infections
Nonspecific dysmorphic features (See
Other, less common findings, including eye abnormalities (e.g.,... | [] | 13/6/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
nfix-malan | nfix-malan | [
"Sotos-Like Syndrome",
"Sotos Syndrome 2",
"Sotos-Like Syndrome",
"Sotos Syndrome 2",
"Nuclear factor 1 X-type",
"NFIX",
"NFIX-Related Malan Syndrome"
] | Manuela Priolo | Summary The diagnosis of MALNS is established in a proband with suggestive findings and either a heterozygous pathogenic variant in MALNS is an autosomal dominant disorder typically caused by a | ## Diagnosis
No consensus clinical diagnostic criteria for
MALNS
Prenatal overgrowth, often with a diagnosis of being large for gestational age
Postnatal overgrowth (length/height and/or head circumference ≥2 standard deviations [SD] above mean for age and sex)
Developmental delay / intellectual disability
Behavi... | [] | 1/8/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
ngly1-cddg | ngly1-cddg | [
"NGLY1-CDDG",
"NGLY1 Deficiency",
"NGLY1-Related Disorder",
"NGLY1-CDDG",
"NGLY1 Deficiency",
"NGLY1-Related Disorder",
"Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase",
"NGLY1",
"NGLY1-Related Congenital Disorder of Deglycosylation"
] | Christina Lam, Lynne Wolfe, Anna Need, Vandana Shashi, Gregory Enns | Summary Individuals with The diagnosis of NGLY1-CDDG is established in a proband by the identification of biallelic pathogenic variants in NGLY1-CDDG is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic... | ## Diagnosis
Formal diagnostic criteria have not been established.
Developmental delay / intellectual disability, most often in the severe to profound range
Hyperkinetic movement disorder
Hypo- or alacrima
Note: Typical serum screening tests for congenital disorders of glycosylation (i.e., analysis of serum transf... | [] | 8/2/2018 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
nijmegen | nijmegen | [
"Nibrin",
"NBN",
"Nijmegen Breakage Syndrome"
] | Nijmegen Breakage Syndrome | Raymonda Varon, Ilja Demuth, Krystyna H Chrzanowska | Summary Nijmegen breakage syndrome (NBS) is characterized by progressive microcephaly, early growth deficiency that improves with age, recurrent respiratory infections, an increased risk for malignancy (primarily lymphoma), and premature ovarian failure in females. Developmental milestones are attained at the usual tim... | ## Diagnosis
Nijmegen breakage syndrome (NBS)
Disproportionate microcephaly that is progressive
Craniofacial features that include a sloping forehead, upward-slanted palpebral fissures, prominent nose, relatively large ears, and retrognathia
Growth deficiency that is more pronounced from birth until age two years... | [] | 17/5/1999 | 18/8/2022 | 30/11/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
nkh | nkh | [
"NKH",
"NKH",
"Attenuated Nonketotic Hyperglycinemia (NKH)",
"Severe Nonketotic Hyperglycinemia (NKH)",
"Aminomethyltransferase, mitochondrial",
"Glycine dehydrogenase (decarboxylating), mitochondrial",
"AMT",
"GLDC",
"Nonketotic Hyperglycinemia"
] | Nonketotic Hyperglycinemia | Johan LK Van Hove, Curtis Coughlin, Michael Swanson, Julia B Hennermann | Summary Nonketotic hyperglycinemia (NKH) is the inborn error of glycine metabolism defined by deficient activity of the glycine cleavage enzyme system (GCS), which results in accumulation of large quantities of glycine in all body tissues including the brain. Based on ultimate outcome NKH is categorized into The diagno... | Severe NKH
Attenuated NKH
For synonyms and outdated names see
For other genetic causes of these phenotypes see
• Severe NKH
• Attenuated NKH
## Diagnosis
Nonketotic hyperglycinemia (NKH) due to biallelic pathogenic variants in one of the two genes (
Neonates with hypotonia, lethargy, coma, apnea, seizures wit... | [] | 14/11/2002 | 23/5/2019 | 26/7/2005 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
nkx2-1-dis | nkx2-1-dis | [
"Benign Hereditary Chorea (BHC)",
"Choreoathetosis, Congenital Hypothyroidism, and Neonatal Respiratory Distress Syndrome (Brain-Lung-Thyroid Syndrome)",
"Homeobox protein Nkx-2.1",
"NKX2-1",
"NKX2-1-Related Disorders"
] | Neepa Jayant Patel, Joseph Jankovic | Summary The diagnosis of | Benign hereditary chorea (BHC)
Choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress syndrome (collectively also known as brain-lung-thyroid syndrome)
For synonyms and outdated names see
For other genetic causes of these phenotypes see
• Benign hereditary chorea (BHC)
• Choreoathetosis, con... | [] | 20/2/2014 | 29/6/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
nkx6-2-spax | nkx6-2-spax | [
"NKX6-2-Related Spastic Ataxia with Hypomyelination",
"SPAX8",
"SPAX8",
"NKX6-2-Related Spastic Ataxia with Hypomyelination",
"Homeobox protein Nkx-6.2",
"NKX6-2",
"NKX6-2-Related Disorder"
] | Viorica Chelban, Namik Kaya, Fowzan Alkuraya, Henry Houlden | Summary The diagnosis of | ## Diagnosis
Onset between birth and age five years of either spasticity or hypotonia with rapid progression to spasticity (typically manifesting as spastic quadriplegia in those with early onset)
Motor delay or developmental delay in those with a more severe phenotype
Nystagmus
Visual impairment manifest in seve... | [
"S Anazi, S Maddirevula, V Salpietro, YT Asi, S Alsahli, A Alhashem, HE Shamseldin, F AlZahrani, N Patel, N Ibrahim, FM Abdulwahab, M Hashem, N Alhashmi, F Al Murshedi, A Al Kindy, A Alshaer, A Rumayyan, S Al Tala, W Kurdi, A Alsaman, A Alasmari, S Banu, T Sultan, MM Saleh, H Alkuraya, MA Salih, H Aldhalaan, T Ben-... | 4/10/2018 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
noonan | noonan | [
"Dual specificity mitogen-activated protein kinase kinase 1",
"GTPase KRas",
"GTPase NRas",
"GTP-binding protein Rit1",
"Leucine-zipper-like transcriptional regulator 1",
"RAF proto-oncogene serine/threonine-protein kinase",
"Ras GTPase-activating protein 2",
"Ras-related protein M-Ras",
"Ras-relate... | Noonan Syndrome | Amy E Roberts | Summary Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulatio... | ## Diagnosis
No consensus clinical diagnostic criteria for Noonan syndrome have been published. Diagnostic scoring systems, most recently published in
Noonan syndrome (NS)
Characteristic facies. The facial appearance of NS shows considerable change with age, being most striking in young and middle childhood, and m... | [] | 15/11/2001 | 16/12/2021 | 5/6/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
norrie | norrie | [
"NDP-Related Familial Exudative Vitreoretinopathy (FEVR)",
"NDP-Related Coats Disease",
"Norrie Disease (Classic Norrie Disease Ocular Phenotype with or without Extraocular Findings",
"NDP-Related Persistent Fetal Vasculature (PFV)",
"NDP-Related Advanced Retinopathy of Prematurity (ROP)",
"Norrin",
"ND... | Brittni A Scruggs, Madeline Q Reding, Lisa A Schimmenti | Summary Rarely, females who are heterozygous for an The diagnosis of an | Norrie disease (classic Norrie disease ocular phenotype with or without extraocular findings)
For synonyms and outdated names see
For other genetic causes of these phenotypes see
• Norrie disease (classic Norrie disease ocular phenotype with or without extraocular findings)
## Diagnosis
An
Retrolental grayish-y... | [
"RC Allen, SR Russell, LM Streb, A Alsheikheh, EM Stone. Phenotypic heterogeneity associated with a novel mutation (Gly112Glu) in the Norrie disease protein.. Eye 2006;20:234-41",
"E Arai, T Fujimaki, A Yanagawa, K Fujiki, T Yokoyama, A Okumura, T Shimizu, A Murakami. Familial cases of Norrie disease detected by ... | 30/7/1999 | 31/3/2022 | 23/3/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
npab | npab | [
"Infantile Neurovisceral ASMD (Niemann-Pick Disease Type A; NPD-A)",
"Chronic Visceral ASMD (Niemann-Pick Disease Type B; NPD-B)",
"Chronic Neurovisceral ASMD (Intermediate Form; NPD-A/B)",
"Sphingomyelin phosphodiesterase",
"SMPD1",
"Acid Sphingomyelinase Deficiency"
] | Acid Sphingomyelinase Deficiency | Melissa P Wasserstein, Edward H Schuchman | Summary The phenotype of acid sphingomyelinase deficiency (ASMD) occurs along a continuum. Individuals with the severe early-onset form, infantile neurovisceral ASMD, were historically diagnosed with Niemann-Pick disease type A (NPD-A). The later-onset, chronic visceral form of ASMD is also referred to as Niemann-Pick ... | Infantile neurovisceral ASMD (Niemann-Pick disease type A; NPD-A)
Chronic neurovisceral ASMD (intermediate form; NPD-A/B)
Chronic visceral ASMD (Niemann-Pick disease type B; NPD-B)
ASMD = acid sphingomyelinase deficiency, which includes NPD-A, NPD-A/B, and NPD-B
• Infantile neurovisceral ASMD (Niemann-Pick disease ... | [] | 7/12/2006 | 27/4/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
npc | npc | [
"NPC intracellular cholesterol transporter 1",
"NPC intracellular cholesterol transporter 2",
"NPC1",
"NPC2",
"Niemann-Pick Disease Type C"
] | Niemann-Pick Disease Type C | Marc Patterson | Summary Niemann-Pick disease type C (NPC) is a slowly progressive lysosomal disorder whose principal manifestations are age dependent. The manifestations in the perinatal period and infancy are predominantly visceral, with hepatosplenomegaly, jaundice, and (in some instances) pulmonary infiltrates. From late infancy on... | ## Diagnosis
No consensus clinical diagnostic criteria for Niemann-Pick disease type C (NPC) have been published.
Assay of oxysterols has largely replaced skin biopsy (see
Family history is consistent with autosomal recessive inheritance (e.g., affected sibs and/or parental consanguinity). Absence of a known family ... | [] | 26/1/2000 | 10/12/2020 | 29/8/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
nr2f1-ndd | nr2f1-ndd | [
"Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS)",
"Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS)",
"COUP transcription factor 1",
"NR2F1",
"NR2F1-Related Neurodevelopmental Disorder"
] | Christian Schaaf, Patrick Yu-Wai-Man, Ilia Valentin | Summary The diagnosis of | ## Diagnosis
No consensus clinical diagnostic criteria for
Developmental delay (i.e., delay in milestone acquisition in at least one domain) and/or intellectual disability
Hypotonia
Speech difficulties
Vision impairment, including:
Optic atrophy (OA), optic nerve hypoplasia
Cerebral visual impairment (CVI), broa... | [] | 8/12/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
nsdhl-dis | nsdhl-dis | [
"CHILD (Congenital Hemidysplasia with Ichthyosiform Nevus and Limb Defects) Syndrome",
"CK Syndrome",
"Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating",
"NSDHL",
"NSDHL-Related Disorders"
] | Mazen Kurban, Jinia El Feghaly, Lamiaa Hamie | Summary CHILD syndrome is characterized by unilateral distribution of ichthyosiform skin lesions and ipsilateral limb defects that range from shortening of the metacarpals and phalanges to absence of the entire limb. Intellect is usually normal. The ichthyosiform skin lesions are usually present at birth or in the firs... | CHILD (
CK syndrome
For synonyms and outdated names see
• CHILD (
• CK syndrome
## Diagnosis
For the purposes of this
No consensus clinical diagnostic criteria for
An
Unilateral distribution of ichthyosiform nevus
Limb defects ipsilateral to the skin lesions
Punctate calcifications of cartilaginous structu... | [] | 1/2/2011 | 5/9/2024 | 16/2/2012 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
nthl1-ts | nthl1-ts | [
"NTHL1-Associated Polyposis",
"NTHL1-Associated Polyposis",
"Endonuclease III-like protein 1",
"NTHL1",
"NTHL1 Tumor Syndrome"
] | Richarda M De Voer, Maartje Nielsen, Weilun Gao, Roland P Kuiper, Nicoline Hoogerbrugge | Summary The diagnosis is established in a proband by identification of germline biallelic pathogenic variants in | ## Diagnosis
Formal diagnostic criteria for
Presence of multiple primary cancers before age 50 years, especially breast, colon, or urothelial cell cancer, meningiomas, head and neck squamous cell carcinoma, hematologic malignancies, endometrial malignancies and premalignancies, and/or basal cell carcinoma
Colorect... | [] | 2/4/2020 | 20/3/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
oca-oa-ov | oca-oa-ov | [
"OCA and OA",
"5,6-dihydroxyindole-2-carboxylic acid oxidase",
"G-protein coupled receptor 143",
"L-dopachrome tautomerase",
"Leucine-rich melanocyte differentiation-associated protein",
"Membrane-associated transporter protein",
"P protein",
"Sodium/potassium/calcium exchanger 5",
"Tyrosinase",
"... | Oculocutaneous Albinism and Ocular Albinism Overview | Mervyn G Thomas, Jonathan Zippin, Brian P Brooks | Summary The purpose of this overview is to: Briefly describe the Review the genetic Review the Provide an Review Inform | ## Clinical Characteristics of Oculocutaneous Albinism and Ocular Albinism
Albinism is a genetically heterogeneous hypopigmentary disorder characterized by cutaneous and ocular hypopigmentation [
The ophthalmic manifestations associated with albinism can include the following:
To identify iris TIDs it is recommende... | [] | 13/4/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
oca1 | oca1 | [
"OCA1",
"OCA1",
"Oculocutaneous Albinism Type 1A (OCA1A)",
"Oculocutaneous Albinism Type 1B (OCA1B)",
"Tyrosinase",
"TYR",
"Oculocutaneous Albinism Type 1"
] | Oculocutaneous Albinism Type 1 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY | Richard Alan Lewis | Summary NOTE: THIS PUBLICATION HAS BEEN RETIRED. THIS ARCHIVAL VERSION IS FOR HISTORICAL REFERENCE ONLY, AND THE INFORMATION MAY BE OUT OF DATE. Oculocutaneous albinism type 1 (OCA1) is characterized by hypopigmentation of the skin and hair and the distinctive ocular changes found in all types of albinism, including: n... | Oculocutaneous albinism type 1A (OCA1A)
Oculocutaneous albinism type 1B (OCA1B)
For synonyms and outdated names see
• Oculocutaneous albinism type 1A (OCA1A)
• Oculocutaneous albinism type 1B (OCA1B)
## Diagnosis
The diagnosis of oculocutaneous albinism type 1 (OCA1) [
Hypopigmentation of the skin and hair (incl... | [
"PW Chiang, E Spector, AC Tsai. Oculocutaneous albinism spectrum.. Am J Med Genet A 2009;149A:1590-1",
"DJ Creel, CG Summers, RA King. Visual anomalies associated with albinism.. Ophthalmic Paediatr Genet 1990;11:193-200",
"K Grønskov, CM Dooley, E Østergaard, RN Kelsh, L Hansen, MP Levesque, K Vilhelmsen, K Mø... | 19/1/2000 | 16/5/2013 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
oca2 | oca2 | [
"OCA2",
"OCA2",
"Brown OCA",
"P protein",
"OCA2",
"Oculocutaneous Albinism Type 2"
] | Oculocutaneous Albinism Type 2 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY | Richard Alan Lewis | Summary NOTE: THIS PUBLICATION HAS BEEN RETIRED. THIS ARCHIVAL VERSION IS FOR HISTORICAL REFERENCE ONLY, AND THE INFORMATION MAY BE OUT OF DATE. Oculocutaneous albinism type 2 (OCA2) is characterized by hypopigmentation of the skin and hair and the characteristic ocular changes found in all types of albinism, including... | Brown OCA
For synonyms and outdated names see
• Brown OCA
## Diagnosis
The diagnosis of oculocutaneous albinism type 2 (OCA2) [
Hypopigmentation of the skin and hair
Characteristic ocular changes found in all types of albinism, including the following findings detected on complete ophthalmologic examination:
Inf... | [
"GS Barsh. What controls variation in human skin color?. PLoS.Biol 2003;1",
"MH Brilliant. The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH.. Pigment Cell Res 2001;14:86-93",
"MH Brilliant, R King, U Francke, S Schuffenhauer, T Meitinger, JM Gardner, ... | 17/7/2003 | 16/8/2012 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
oca4 | oca4 | [
"OCA4",
"OCA4",
"Membrane-associated transporter protein",
"SLC45A2",
"Oculocutaneous Albinism Type 4"
] | Oculocutaneous Albinism Type 4 | Masahiro Hayashi, Tamio Suzuki | Summary Oculocutaneous albinism type 4 (OCA4) is characterized by hypopigmentation of the hair and skin plus the characteristic ocular changes found in all other types of albinism, including: nystagmus; reduced iris pigment with iris translucency; reduced retinal pigment with visualization of the choroidal blood vessel... | ## Diagnosis
Oculocutaneous albinism type 4 (OCA4)
Nystagmus
Reduced iris pigment with iris translucency
Reduced retinal pigment with visualization of the choroidal blood vessels on ophthalmoscopic examination
Foveal hypoplasia associated with reduction in visual acuity
Alternating strabismus
Reduced stereoscopi... | [
"ME Asuquo, O Ngim, G Ebughe, EE Bassey. Skin cancers amongst four Nigerian albinos.. Int J Dermatol. 2009;48:636-8",
"BH Bin, J Bhin, SH Yang, M Shin, YJ Nam, DH Choi, DW Shin, AY Lee, D Hwang, EG Cho, TR Lee. Membrane-Associated Transporter Protein (MATP) regulates melanosomal pH and influences tyrosinase activ... | 17/11/2005 | 7/9/2017 | 15/9/2011 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
ofd1 | ofd1 | [
"OFD1",
"Orofaciodigital Syndrome I",
"OFD1",
"Orofaciodigital Syndrome I",
"Centriole and centriolar satellite protein OFD1",
"OFD1",
"Oral-Facial-Digital Syndrome Type I"
] | Oral-Facial-Digital Syndrome Type I | Brunella Franco, Ange-Line Bruel, Christel Thauvin-Robinet | Summary Oral-facial-digital syndrome type I (OFD1) is usually male lethal during gestation and predominantly affects females. OFD1 is characterized by the following: oral features (lobulated tongue, tongue nodules, cleft of the hard or soft palate, accessory gingival frenulae, hypodontia, and other dental abnormalities... | ## Diagnosis
No consensus clinical diagnostic criteria for oral-facial-digital syndrome type I (OFD1) have been published.
OFD1
Tongue anomalies (e.g., lobulated, nodules, ankyloglossia)
Cleft palate
Alveolar clefts and accessory gingival frenulae
Dental anomalies (e.g., missing teeth, extra teeth)
Widely sp... | [
"CL Alamillo, Z Powis, K Farwell, L Shahmirzadi, EC Weltmer, J Turocy, T Lowe, C Kobelka, E Chen, D Basel, E Ashkinadze, L D'Augelli, E Chao, S Tang. Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies.. Prenat Diagn. 2015;35:107... | 24/7/2002 | 11/5/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
og-dysp | og-dysp | [
"FGFR1-Related Osteoglophonic Dysplasia",
"Osteoglophonic Dwarfism",
"Fairbank-Keats Syndrome",
"FGFR1-Related Osteoglophonic Dysplasia",
"Osteoglophonic Dwarfism",
"Fairbank-Keats Syndrome",
"Fibroblast growth factor receptor 1",
"FGFR1",
"Osteoglophonic Dysplasia"
] | Osteoglophonic Dysplasia | Amna A Othman, Holly E Babcock, Carlos R Ferreira | Summary Osteoglophonic dysplasia (OGD) is characterized by multisuture craniosynostosis (including cloverleaf skull), distinctive craniofacial features (prominent forehead, proptosis, widely spaced eyes, low-set ears, midface retrusion, short nose, anteverted nares, prognathism, high palate, failure of tooth eruption, ... | ## Diagnosis
Osteoglophonic dysplasia (OGD)
Multisuture craniosynostosis (including cloverleaf skull)
Prominent forehead
Proptosis
Widely spaced eyes
Low-set ears
Midface retrusion
Short nose
Anteverted nares
Prognathism
High palate
Failure of tooth eruption
Gingival overgrowth
Short stature
Rhizom... | [] | 18/4/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
oi | oi | [
"Brittle Bone Disease",
"OI",
"Brittle Bone Disease",
"OI",
"Collagen alpha-1(I) chain",
"Collagen alpha-2(I) chain",
"COL1A1",
"COL1A2",
"COL1A1- and COL1A2-Related Osteogenesis Imperfecta"
] | Mercedes Rodriguez Celin, Robert D Steiner, Donald Basel | Summary Classic non-deforming OI with blue sclerae (OI type I) Perinatally lethal OI (OI type II) Progressively deforming OI (OI type III) Common variable OI with normal sclerae (OI type IV) The diagnosis of | ## Diagnosis
Fractures with minimal or no trauma in the absence of other factors, such as non-accidental trauma (NAT) or other known bone disorders
Short stature or stature shorter than predicted based on stature of unaffected family members, often with bone deformity
Blue/gray scleral hue
Dentinogenesis imperfecta... | [] | 28/1/2005 | 29/5/2025 | 14/3/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
okur-chung | okur-chung | [
"CSNK2A1-Related Neurodevelopmental Syndrome",
"CSNK2A1-Related Neurodevelopmental Syndrome",
"Casein kinase II subunit alpha",
"CSNK2A1",
"Okur-Chung Neurodevelopmental Syndrome"
] | Okur-Chung Neurodevelopmental Syndrome | Wendy Chung, Volkan Okur | Summary Individuals with Okur-Chung neurodevelopmental syndrome (OCNDS) frequently have nonspecific clinical features, delayed language development, motor delay, intellectual disability (typically in the mild-to-moderate range), generalized hypotonia starting in infancy, difficulty feeding, and nonspecific dysmorphic f... | ## Diagnosis
No consensus clinical diagnostic criteria for Okur-Chung neurodevelopmental syndrome (OCNDS) have been published.
OCNDS
Mild-to-moderate developmental delay (DD) or intellectual disability (ID)
Generalized hypotonia in infancy and/or childhood
Speech delay
AND
Any of the following features present... | [
"M Akahira-Azuma, Y Tsurusaki, Y Enomoto, J Mitsui, K Kurosawa. Refining the clinical phenotype of Okur-Chung neurodevelopmental syndrome.. Hum Genome Var. 2018;5:18011",
"K Angione, K Eschbach, G Smith, C Joshi, S Demarest. Genetic testing in a cohort of patients with potential epilepsy with myoclonic-atonic sei... | 9/6/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
ondine | ondine | [
"Later-Onset Congenital Central Hypoventilation Syndrome (LO-CCHS)",
"Paired mesoderm homeobox protein 2B",
"PHOX2B",
"Congenital Central Hypoventilation Syndrome (CCHS)"
] | Congenital Central Hypoventilation Syndrome | Debra E Weese-Mayer, Casey M Rand, Ilya Khaytin, Susan M Slattery, Kai Lee Yap, Mary L Marazita, Elizabeth M Berry-Kravis | Summary Congenital central hypoventilation syndrome (CCHS) represents the extreme manifestation of autonomic nervous system dysregulation (ANSD) with the hallmark of disordered respiratory control. The age of initial recognition of CCHS ranges from neonatal onset (i.e., in the first 30 days of life) to (less commonly) ... | ## Diagnosis
The 2010 American Thoracic Society Statement on congenital central hypoventilation syndrome (CCHS) presents the current consensus clinical diagnostic criteria for CCHS (neonatal-onset and LO-CCHS [later-onset CCHS]) [
CCHS
Generally adequate ventilation while awake and at rest, and apparent hypovent... | [
"J Amiel, B Laudier, T Attie-Bitach, H Trang, L de Pontual, B Gener, D Trochet, H Etchevers, P Ray, M Simonneau, M Vekemans, A Munnich, C Gaultier, S Lyonnet. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.. Nat Genet 2003;33:459... | 28/1/2004 | 28/1/2021 | 24/7/2008 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
opa | opa | [
"Dynamin-like 120 kDa protein, mitochondrial",
"OPA1",
"Optic Atrophy Type 1"
] | Optic Atrophy Type 1 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY | Cécile Delettre-Cribaillet, Christian P Hamel, Guy Lenaers | Summary Optic atrophy type 1 (OPA1, or Kjer type optic atrophy) is characterized by bilateral and symmetric optic nerve pallor associated with insidious decrease in visual acuity (usually between ages 4 and 6 years), visual field defects, and color vision defects. Visual impairment is usually moderate (6/10 to 2/10), ... | ## Diagnosis
Optic atrophy type 1 (OPA1 or Kjer type optic atrophy)
Childhood onset
Bilateral vision loss that is usually symmetric
Visual field defect that is typically centrocecal, central, or paracentral
Peripheral field that is usually normal, although inversion of red and blue isopters may occur.
Note: The... | [] | 13/7/2007 | 12/11/2015 | 24/3/2009 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
opd | opd | [
"Otopalatodigital Spectrum Disorders (OPDSD)",
"X-Linked Otopalatodigital Spectrum Disorders",
"Otopalatodigital Spectrum Disorders (OPDSD)",
"X-Linked Otopalatodigital Spectrum Disorders",
"Otopalatodigital Syndrome Type 1 (FLNA-OPD1)",
"Frontometaphyseal Dysplasia (FLNA-FMD)",
"Melnick-Needles Syndrom... | Stephen Robertson, Emma Wade | Summary The The diagnosis of an The diagnosis of an | Otopalatodigital syndrome type 1 (
Otopalatodigital syndrome type 2 (
Frontometaphyseal dysplasia (
Melnick-Needles syndrome (
Terminal osseous dysplasia (
For synonyms and outdated names see
• Otopalatodigital syndrome type 1 (
• Otopalatodigital syndrome type 2 (
• Frontometaphyseal dysplasia (
• Melnick-Nee... | [] | 30/11/2005 | 26/6/2025 | 28/4/2009 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
opitz | opitz | [
"X-Linked Opitz Syndrome (XLOS)",
"X-Linked Opitz G/BBB Syndrome",
"X-Linked Opitz Syndrome (XLOS)",
"X-Linked Opitz G/BBB Syndrome",
"E3 ubiquitin-protein ligase Midline-1",
"MID1",
"MID1-Related Opitz G/BBB Syndrome"
] | Germana Meroni | Summary The diagnosis of | ## Diagnosis
For the purposes of this
Hypertelorism and/or telecanthus (present in virtually all affected individuals)
Hypospadias
Laryngotracheoesophageal abnormalities, primarily laryngeal cleft, resulting in swallowing difficulties and respiratory dysfunction
Cleft lip and/or palate
Intellectual disability a... | [] | 17/12/2004 | 19/10/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
opmd | opmd | [
"OPMD",
"OPMD",
"Polyadenylate-binding protein 2",
"PABPN1",
"Oculopharyngeal Muscular Dystrophy"
] | Oculopharyngeal Muscular Dystrophy | Capucine Trollet, Alexis Boulinguiez, Fanny Roth, Tanya Stojkovic, Gillian Butler-Browne, Teresinha Evangelista, Jean Lacau St Guily, Pascale Richard | Summary Oculopharyngeal muscular dystrophy (OPMD) is characterized by ptosis and dysphagia due to selective involvement of the muscles of the eyelids and pharynx, respectively. For the vast majority of individuals with typical OPMD, the mean age of onset of ptosis is usually 48 years and of dysphagia 50 years; in 5%-10... | ## Diagnosis
Oculopharyngeal muscular dystrophy (OPMD)
Note: Proximal muscle weakness (particularly involving pelvic girdle and scapular girdle) may appear later, usually five to ten years after the onset of ptosis.
The diagnosis of OPMD
A heterozygous GCN trinucleotide repeat expansion of 11 to 18 repeats in the... | [
"A Abu-Baker, N Kharma, J Perreault, A Grant, M Shekarabi, C Maios, M Dona, C Neri, PA Dion, A Parker, L Varin, GA Rouleau. RNA-based therapy utilizing oculopharyngeal muscular dystrophy transcript knockdown and replacement.. Mol Ther Nucleic Acids. 2019;15:12-25",
"A Abu-Baker, S Laganiere, X Fan, J Laganiere, B... | 8/3/2001 | 22/10/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
os-cs | os-cs | [
"Horan-Beighton Syndrome",
"OS-CS",
"AMER1-Related Osteopathia Striata with Cranial Sclerosis",
"Horan-Beighton Syndrome",
"OS-CS",
"APC membrane recruitment protein 1",
"AMER1",
"Osteopathia Striata with Cranial Sclerosis"
] | Osteopathia Striata with Cranial Sclerosis | Russell Gear, Ravi Savarirayan | Summary Most females with osteopathia striata with cranial sclerosis (OS-CS) present with macrocephaly and characteristic facial features (frontal bossing, hypertelorism, epicanthal folds, depressed nasal bridge, and prominent jaw). Approximately half have associated features including orofacial clefting and hearing lo... | ## Diagnosis
No consensus clinical diagnostic criteria for osteopathia striata with cranial sclerosis (OS-CS) have been published, however the combination of macrocephaly, cranial sclerosis, and longitudinal metaphyseal striations of the long bones are considered highly characteristic of this condition.
OS-CS
Char... | [
"A Bach, J Mi, M Hunter, BJ Halliday, S Garcia-Minaur, F Sperotto, E Trevisson, D Markie, IM Morison, M Shinawi, DN Willis, SP Robertson. Wilms tumor in patients with osteopathia striata with cranial sclerosis.. Eur J Hum Genet. 2021;29:396-401",
"F Brioude, JM Kalish, A Mussa, AC Foster, J Bliek, GB Ferrero, SE ... | 15/4/2021 | 30/3/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
otc-def | otc-def | [
"Ornithine Carbamoyltransferase Deficiency",
"OTC Deficiency",
"OTC Deficiency",
"Ornithine Carbamoyltransferase Deficiency",
"Ornithine transcarbamylase, mitochondrial",
"OTC",
"Ornithine Transcarbamylase Deficiency"
] | Ornithine Transcarbamylase Deficiency | Uta Lichter-Konecki, Ljubica Caldovic, Hiroki Morizono, Kara Simpson, Nicholas Ah Mew, Erin MacLeod | Summary Ornithine transcarbamylase (OTC) deficiency can occur as a severe neonatal-onset disease in males (but rarely in females) and as a post-neonatal-onset (also known as "late-onset" or partial deficiency) disease in males and females. Males with severe neonatal-onset OTC deficiency are asymptomatic at birth but be... | ## Diagnosis
Diagnostic criteria for ornithine transcarbamylase (OTC) deficiency have been set forth by the Longitudinal Study of Urea Cycle Disorders (
OTC deficiency is universally screened for in eight US states and territories, and likely to be detected and reported in three additional states [
Currently, NBS fo... | [] | 29/8/2013 | 2/12/2021 | 26/5/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
pacs1-ndd | pacs1-ndd | [
"Schuurs-Hoeijmakers Syndrome",
"Schuurs-Hoeijmakers Syndrome",
"Phosphofurin acidic cluster sorting protein 1",
"PACS1",
"PACS1 Neurodevelopmental Disorder"
] | Laina Lusk, Simone Smith, Christa Martin, Cora Taylor, Wendy Chung | Summary The diagnosis of | ## Diagnosis
Developmental delay and/or intellectual disability that are typically moderate, although range includes mild to severe delays
Hypotonia
Feeding difficulties
Epilepsy (partial and tonic seizures reported, often with early or infantile onset; well-controlled by medication)
Behavioral features (e.g., aut... | [
"L Chad, B HY Chung, CR Marshall, D Merico, R Babul-Hirji, DJ Stavropoulos, D Chitayat. Global developmental delay and characteristic facial features associated with PACS1 gene mutation – report of two cases.. J Med Genet. 2015;52:A1",
"AK Dutta. Schuurs-Hoeijmakers syndrome in a patient from India.. Am J Med Gen... | 16/7/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
pai-1-def | pai-1-def | [
"Complete PAI-1 Deficiency",
"Homozygous PAI-1 Deficiency",
"Complete PAI-1 Deficiency",
"Homozygous PAI-1 Deficiency",
"Plasminogen activator inhibitor 1",
"SERPINE1",
"Complete Plasminogen Activator Inhibitor 1 Deficiency"
] | Complete Plasminogen Activator Inhibitor 1 Deficiency | Meadow Heiman, Sweta Gupta, Magdalena Lewandowska, Amy D Shapiro | Summary Untreated complete plasminogen activator inhibitor 1 (PAI-1) deficiency is characterized by mild-to-moderate bleeding, although in some instances bleeding can be life-threatening. Most commonly, delayed bleeding is associated with injury, trauma, or surgery; spontaneous bleeding does not occur. While males and ... | ## Diagnosis
Complete plasminogen activator inhibitor 1 (PAI-1) deficiency
Bleeding disorder that typically presents as:
Delayed bleeding following injury, trauma, or surgery
In females, menorrhagia and abnormal bleeding with pregnancy
Absence of other known bleeding disorders including:
von Willebrand disease
D... | [
"J Diéval, G Nguyen, S Gross, J Delobel, EK Kruithof. A lifelong bleeding disorder associated with deficiency of plasminogen activator inhibitor type 1.. Blood. 1991;77:528-32",
"WP Fay, AC Parker, LR Condrey, AD Shapiro. Human plasminogen activator inhibitor -1 (PAI-1) deficiency: characterization of a large kin... | 3/8/2017 | 23/2/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
pancreatitis-ov | pancreatitis-ov | [
"Calcific Pancreatitis",
"Chronic Pancreatitis",
"SPINK1-Related Hereditary Pancreatitis",
"PRSS1-Related Hereditary Pancreatitis",
"CTRC-Related Hereditary Pancreatitis",
"CFTR-Related Hereditary Pancreatitis",
"Bile salt-activated lipase",
"Carboxypeptidase A1",
"Chymotrypsin-C",
"Claudin-2",
... | Pancreatitis Overview | Celeste Shelton, Jessica LaRusch, David C Whitcomb | Summary The purpose of this overview is: Review the Provide an Review Inform | ## Pancreatitis: Definitions
Sudden onset of typical epigastric abdominal pain
Elevation of serum amylase or lipase more than three times the upper limits of normal [
Characteristic findings of acute pancreatitis such as pancreatic edema, fat stranding, and peripancreatic fluid collections on abdominal imaging [
M... | [] | 13/3/2014 | 2/7/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
papr | papr | [
"Papillorenal Syndrome",
"Renal Coloboma Syndrome",
"Papillorenal Syndrome",
"Renal Coloboma Syndrome",
"Paired box protein Pax-2",
"PAX2",
"PAX2-Related Disorder"
] | Matthew A Bower, Lisa A Schimmenti, Michael R Eccles | Summary The diagnosis of | ## Diagnosis
Renal coloboma syndrome (or papillorenal syndrome) was the name given to an autosomal dominant condition associated with renal hypodysplasia and abnormalities of the optic nerve and a heterozygous pathogenic variant in
There are no formal diagnostic criteria for
Note:
Abnormalities of kidney structure ... | [] | 8/6/2007 | 8/2/2018 | 14/8/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
paragangliomas | paragangliomas | [
"Protein max",
"Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial",
"Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial",
"Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial",
"Succinate dehydrogenase assembly factor 2, mitochondrial",
... | Hereditary Paraganglioma-Pheochromocytoma Syndromes | Tobias Else, Samantha Greenberg, Lauren Fishbein | Summary Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sym... | ## Diagnosis
The Endocrine Society guidelines for pheochromocytoma and paraganglioma [
A hereditary PGL/PCC syndrome
Tumors that are:
Multiple (i.e., >1 paraganglioma or pheochromocytoma), including bilateral adrenal pheochromocytoma
Multifocal, with multiple synchronous or metachronous tumors
Recurrent
Early on... | [] | 21/5/2008 | 21/9/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
parkinson-overview | parkinson-overview | [
"85/88 kDa calcium-independent phospholipase A2",
"Alpha-synuclein",
"Auxilin",
"E3 ubiquitin-protein ligase parkin",
"F-box only protein 7",
"Intermembrane lipid transfer protein VPS13C",
"Leucine-rich repeat serine/threonine-protein kinase 2",
"Parkinson disease protein 7",
"Polyamine-transporting... | Monogenic Parkinson Disease Overview | Huw Morris, Shen-Yang Lim | Summary The purpose of this overview is to: Describe the Review monogenic Review the Provide an Provide information on Inform | ## Clinical Characteristics of Parkinson Disease
Parkinson disease (PD), a neurodegenerative disorder, is characterized by slowed movement (bradykinesia), resting tremor, muscle rigidity, and often postural instability, particularly in later stages of the disease [
The clinical diagnosis of PD is based on the clinic... | [] | 25/5/2004 | 15/5/2025 | 9/7/2009 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
pbd | pbd | [
"ZSD",
"Intermediate/Milder Zellweger Spectrum Disorder (Neonatal Adrenoleukodystrophy, Infantile Refsum Disease, Heimler Syndrome)",
"Severe Zellweger Spectrum Disorder (Zellweger Syndrome)",
"Peroxisomal ATPase PEX1",
"Peroxisomal ATPase PEX6",
"Peroxisomal biogenesis factor 19",
"Peroxisomal biogenes... | Zellweger Spectrum Disorder | Steven J Steinberg, Gerald V Raymond, Nancy E Braverman, Ann B Moser | Summary Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild. While individual phenotypes (e.g., Zellweger syndrome [ZS], neonatal adrenoleukodystrophy [NALD], and infantile Refsum disease [IRD]) were described in the past before the biochemical and molecular bases of this spectrum we... | Severe ZSD (previously called Zellweger syndrome)
Intermediate/milder ZSD (previously called neonatal adrenoleukodystrophy, infantile Refsum disease, or Heimler syndrome)
For synonyms and outdated names see
• Severe ZSD (previously called Zellweger syndrome)
• Intermediate/milder ZSD (previously called neonatal adr... | [] | 12/12/2003 | 29/10/2020 | 21/12/2017 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
pc-hypo-p | pc-hypo-p | [
"Pontocerebellar Hypoplasia Type 5 (PCH5)",
"Pontocerebellar Hypoplasia Type 2 (PCH2)",
"Pontocerebellar Hypoplasia Type 4 (PCH4)",
"tRNA-splicing endonuclease subunit Sen54",
"TSEN54",
"TSEN54 Pontocerebellar Hypoplasia"
] | Tessa van Dijk, Frank Baas | Summary The diagnosis of | Pontocerebellar hypoplasia type 2 (PCH2)
Pontocerebellar hypoplasia type 4 (PCH4)
Pontocerebellar hypoplasia type 5 (PCH5)
For synonyms and outdated names see
For other genetic causes of these phenotypes see
• Pontocerebellar hypoplasia type 2 (PCH2)
• Pontocerebellar hypoplasia type 4 (PCH4)
• Pontocerebellar h... | [
"PG Barth, E Aronica, L de Vries, PG Nikkels, W Scheper, JJ Hoozemans, BT Poll-The, D Troost. Pontocerebellar hypoplasia type 2: a neuropathological update.. Acta Neuropathol (Berl) 2007;114:373-86",
"PG Barth, G Blennow, HG Lenard, JH Begeer, JM van der Kley, F Hanefeld, ACB Peters, J Valk. The syndrome of autos... | 8/9/2009 | 28/5/2020 | 14/7/2016 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
pc | pc | [
"Keratin, type I cytoskeletal 16",
"Keratin, type I cytoskeletal 17",
"Keratin, type II cytoskeletal 6A",
"Keratin, type II cytoskeletal 6B",
"Keratin, type II cytoskeletal 6C",
"KRT16",
"KRT17",
"KRT6A",
"KRT6B",
"KRT6C",
"Pachyonychia Congenita"
] | Pachyonychia Congenita | Frances JD Smith, C David Hansen, Peter R Hull, Roger L Kaspar, WH Irwin McLean, Edel O’Toole, Eli Sprecher | Summary Pachyonychia congenita (PC) is characterized by hypertrophic nail dystrophy, painful palmoplantar keratoderma and blistering, oral leukokeratosis, pilosebaceous cysts (including steatocystoma and vellus hair cysts), palmoplantar hyperhydrosis, and follicular keratoses on the trunk and extremities. PC is diagnos... | ## Diagnosis
Clinical diagnostic criteria for pachyonychia congenita (PC) include the triad of toenail thickening, plantar keratoderma, and plantar pain, which are present in 97% of individuals with genetically confirmed PC by age ten years [
Pachyonychia congenita (PC)
Plantar keratoderma including callus with un... | [
"SP Covello, FJD Smith, JH Sillevis Smitt, AS Paller, CS Munro, MF Jonkman, J Uitto, WHI McLean. Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.. Br J Dermatol 1998;139:475-80",
"CMC DeKlotz, ME Schwartz, LM Milstone. Nail removal in pachyonychia congenita: patient-repo... | 27/1/2006 | 30/11/2017 | 6/12/2007 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
pcd | pcd | [
"Immotile Cilia Syndrome",
"Kartagener Syndrome",
"Immotile Cilia Syndrome",
"Kartagener Syndrome",
"Calaxin",
"Centriole and centriolar satellite protein OFD1",
"Cilia- and flagella-associated protein 221",
"Cilia- and flagella-associated protein 298",
"Cilia- and flagella-associated protein 300",
... | Primary Ciliary Dyskinesia | Maimoona A Zariwala, Katherine A Despotes, Stephanie D Davis | Summary The purpose of this overview is to: Briefly describe the Review the Review the Provide an Review Inform | ## Clinical Characteristics of Primary Ciliary Dyskinesia
Primary ciliary dyskinesia (PCD) is associated with:
Abnormal ciliary structure and function and biogenesis defects that result in retention of mucus and bacteria in the respiratory tract, leading to chronic otosinopulmonary disease;
Defective flagellar stru... | [] | 24/1/2007 | 22/5/2025 | 28/2/2013 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
pdc | pdc | [
"Pyruvate Carboxylase Deficiency Type A",
"Pyruvate Carboxylase Deficiency Type B",
"Pyruvate Carboxylase Deficiency Type C",
"Pyruvate carboxylase, mitochondrial",
"PC",
"Pyruvate Carboxylase Deficiency"
] | Pyruvate Carboxylase Deficiency | Maria Laura Duque Lasio, April N Lehman, Ayesha Ahmad, Jirair K Bedoyan | Summary Pyruvate carboxylase (PC) deficiency is characterized in most affected individuals by failure to gain weight and/or linear growth failure, developmental delay, epilepsy, and metabolic acidosis. Three clinical phenotypes are recognized. The diagnosis of PC deficiency is established in a proband whose newborn scr... | Pyruvate Carboxylase Deficiency: Included Phenotypes
## Diagnosis
In some newborns and states in the United States, pyruvate carboxylase (PC) deficiency can be suspected on the basis of elevated levels of citrulline during newborn screening. Since citrulline elevation is not specific to PC deficiency, it is critical ... | [] | 2/6/2009 | 30/5/2024 | 30/7/2015 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
pdhc-def-ov | pdhc-def-ov | [
"PDH Deficiency (PDHD)",
"PDHC Deficiency",
"Pyruvate Dehydrogenase Complex Deficiency Disease (PDCDD)",
"Pyruvate Dehydrogenase Deficiency",
"PDH Deficiency (PDHD)",
"PDHC Deficiency",
"Pyruvate Dehydrogenase Complex Deficiency Disease (PDCDD)",
"Pyruvate Dehydrogenase Deficiency",
"[Pyruvate dehyd... | Primary Pyruvate Dehydrogenase Complex Deficiency Overview | Rebecca Ganetzky, Elizabeth M McCormick, Marni J Falk | Summary The purpose of this overview is to: Describe the Review the Review the Provide an Inform (when possible) Inform | ## Clinical Characteristics of Primary Pyruvate Dehydrogenase Complex Deficiency
Primary pyruvate dehydrogenase complex deficiency (PDCD) is a mitochondrial disorder of carbohydrate oxidation that mostly affects the brain and leads to decreased ATP production and energy deficit. Primary PDCD most commonly manifests a... | [] | 17/6/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
pds | pds | [
"AASADH Deficiency",
"ALDH7A1 Deficiency",
"Alpha Aminoadipic Semialdehyde (α-AASA) Dehydrogenase Deficiency",
"Antiquitin (ATQ) Deficiency",
"PDE-ALDH7A1",
"AASADH Deficiency",
"ALDH7A1 Deficiency",
"Alpha Amino Adipic Semialdehyde (a-AASA) Dehydrogenase Deficiency",
"Antiquitin (ATQ) Deficiency",
... | Pyridoxine-Dependent Epilepsy – | Sidney M Gospe | Summary Pyridoxine-dependent epilepsy – In classic PDE- In atypical PDE- The diagnosis of PDE- PDE- | ## Diagnosis
Pyridoxine-dependent epilepsy –
Seizures in any child younger than age one year without an apparent brain malformation or acquired brain injury as the cause of the epilepsy
Cryptogenic seizures in a previously normal infant without an abnormal gestational or perinatal history
In neonates, a phenotype... | [] | 7/12/2001 | 22/9/2022 | 7/6/2012 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
peaf | peaf | [
"ADEAF",
"Autosomal Dominant Lateral Temporal Lobe Epilepsy",
"Autosomal Dominant Partial Epilepsy with Auditory Features",
"ADEAF",
"Autosomal Dominant Lateral Temporal Lobe Epilepsy",
"Autosomal Dominant Partial Epilepsy with Auditory Features",
"[F-actin]-monooxygenase MICAL1",
"Leucine-rich glioma... | Autosomal Dominant Epilepsy with Auditory Features | Roberto Michelucci, Elena Pasini, Emanuela Dazzo | Summary Autosomal dominant epilepsy with auditory features (ADEAF) is a focal epilepsy syndrome with auditory symptoms and/or receptive aphasia as prominent ictal manifestations. The most common auditory symptoms are simple unformed sounds including humming, buzzing, or ringing; less common forms are distortions (e.g.,... | ## Diagnosis
Consensus clinical diagnostic criteria for autosomal dominant epilepsy with auditory features (ADEAF) have been published by the International League Against Epilepsy (ILAE) [
ADEAF
An aura immediately preceding a bilateral tonic-clonic seizure;
A component of focal aware or focal impaired-awareness se... | [] | 20/4/2007 | 9/5/2024 | 26/9/2007 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
pendred | pendred | [
"PDS/NSEVA",
"PDS/DFNB4",
"Nonsyndromic SLC26A4-Related Sensorineural Hearing Loss",
"DFNB4",
"NSEVA",
"DFNB4/NSEVA",
"Pendred Syndrome (PDS)",
"Pendrin",
"SLC26A4",
"SLC26A4-Related Sensorineural Hearing Loss"
] | Richard JH Smith, Hela Azaiez, Amanda M Odell | Summary The diagnosis of | Nonsyndromic
Pendred syndrome (PDS)
NSEVA = nonsyndromic enlargement of the vestibular aqueduct
For additional synonyms and outdated names, see
• Nonsyndromic
• Pendred syndrome (PDS)
## Diagnosis
No consensus clinical diagnostic criteria for
Onset varies (congenital, prelingual, postlingual).
Newborn hear... | [] | 28/9/1998 | 9/1/2025 | 3/4/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
perrault | perrault | [
"ATP-dependent Clp protease proteolytic subunit, mitochondrial",
"Geranylgeranyl pyrophosphate synthase",
"GTPase Era, mitochondrial",
"Histidine--tRNA ligase, mitochondrial",
"Large ribosomal subunit protein mL49",
"Leucine--tRNA ligase, mitochondrial",
"Mitochondrial ribonuclease P catalytic subunit",... | Perrault Syndrome Overview | Tianyi Li, Rabia Faridi, William G Newman, Thomas B Friedman | Summary The purpose of this overview is to: Briefly describe the Review the Review the Provide an Review Inform | ## Clinical Characteristics of Perrault Syndrome
Perrault syndrome, a rare multisystem disorder, has been reported in more than 170 individuals to date. Perrault syndrome was initially defined 70 years ago as bilateral sensorineural hearing loss (SNHL) and ovarian dysfunction in females with a normal 46,XX karyotype ... | [] | 25/9/2014 | 8/5/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
perry | perry | [
"Perry Syndrome",
"Distal Hereditary Motor Neuronopathy Type 7B (dHMN7B)",
"DCTN1-Related Frontotemporal Dementia",
"DCTN1-Related Motor Neuron Disease / Amyotrophic Lateral Sclerosis",
"DCTN1-Related Progressive Supranuclear Palsy",
"Dynactin subunit 1",
"DCTN1",
"DCTN1-Related Neurodegeneration"
] | Jaroslaw Dulski, Takuya Konno, Zbigniew Wszolek | Summary The spectrum of Perry syndrome (the most common of the phenotypes associated with The diagnosis of | Perry syndrome
Distal hereditary motor neuronopathy type 7B
Frontotemporal dementia
Motor neuron disease / amyotrophic lateral sclerosis
Progressive supranuclear palsy
For other genetic causes of these phenotypes, see
The most common phenotype associated with heterozygous
• Perry syndrome
• Distal hereditary mo... | [
"R Barreto, M Lopes, JM Roriz, M Magalhães. Perry syndrome – Characteristics of the first Portuguese family.. Mov Disord 2015;30:S304-5",
"RD Barreto, R Rodriques, JM Roriz, I Alonso, M Magalhães. Perry syndrome with progressive supranuclear palsy-like phenotype in a Portuguese family - Long-term clinical follow-... | 30/9/2010 | 5/8/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
peters-plus | peters-plus | [
"Peters-Plus Syndrome",
"Beta-1,3-glucosyltransferase",
"B3GLCT",
"Peters Plus Syndrome"
] | Peters Plus Syndrome | Saskia AJ Lesnik Oberstein, Claudia AL Ruivenkamp, Raoul C Hennekam | Summary Peters plus syndrome is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/palate, and variable developmental delay / intellectual disability. The most common anterior chamber defect is Peters' anomaly, consisting of central corn... | ## Diagnosis
Peters plus syndrome
Short limbs with broad distal extremities
Characteristic facial features including an exaggerated Cupid's bow of the upper lip, short palpebral fissures, and ear anomalies
Cleft lip/palate
Variable developmental delay / intellectual disability
The diagnosis of Peters plus syndrom... | [] | 8/10/2007 | 24/8/2017 | 30/1/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
pf | pf | [
"H/ACA ribonucleoprotein complex non-core subunit NAF1",
"H/ACA ribonucleoprotein complex subunit DKC1",
"Not applicable",
"Phospholipid-transporting ATPase ABCA3",
"Poly(A)-specific ribonuclease PARN",
"Pulmonary surfactant-associated protein A1",
"Pulmonary surfactant-associated protein A2",
"Regula... | Pulmonary Fibrosis Predisposition Overview | Christine Kim Garcia, Janet L Talbert | Summary The purpose of this overview is to: Briefly describe the Review genetic Review the Provide an Review Inform | ## Clinical Characteristics of Pulmonary Fibrosis
Individuals with pulmonary fibrosis typically present with shortness of breath with exertion and a dry cough. Disease onset during adulthood is most common, but onset can range over multiple decades. Most individuals with pulmonary fibrosis have had a history of smoki... | [] | 21/1/2005 | 11/2/2021 | 12/5/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
pfcp | pfcp | [
"ECYT1",
"Familial Erythrocytosis Type 1",
"Primary Familial and Congenital Polycythemia",
"Familial Erythrocytosis Type 1",
"ECYT1",
"Primary Familial and Congenital Polycythemia",
"Erythropoietin receptor",
"EPOR",
"Primary Familial and Congenital Polycythemia"
] | Primary Familial and Congenital Erythrocytosis | Josef Prchal | Summary Primary familial and congenital erythrocytosis (PFCE), originally described as primary familial and congenital polycythemia, is characterized by isolated erythrocytosis in an individual with a normal to slightly enlarged spleen and absence of disorders causing secondary erythrocytosis. Clinical manifestations r... | ## Diagnosis
Consensus clinical diagnostic criteria for primary familial and congenital erythrocytosis (PFCE) – originally described as primary familial and congenital polycythemia – have been published [
PFCE
Absence of marked splenomegaly
Absence of cardiac, pulmonary, and kidney disease causing secondary eryth... | [] | 10/11/2016 | 23/1/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
pfic | pfic | [
"FIC1 Deficiency",
"FIC1 Deficiency",
"Severe ATP8B1 Deficiency (Progressive Familial Intrahepatic Cholestasis Type 1 [PFIC1])",
"Mild-to-Moderate ATP8B1 Deficiency (Benign Recurrent Intrahepatic Cholestasis 1 [BRIC1])",
"Phospholipid-transporting ATPase IC",
"ATP8B1",
"ATP8B1 Deficiency"
] | ATP8B1 Deficiency | Laura N Bull, Raffaella Morotti, James E Squires | Summary The phenotypic spectrum of ATP8B1 deficiency ranges from severe through moderate to mild. Severe ATP8B1 deficiency is characterized by infantile-onset cholestasis that progresses to cirrhosis, hepatic failure, and early death. Although mild-to-moderate ATP8B1 deficiency initially was thought to involve intermit... | Severe ATP8B1 deficiency (progressive familial intrahepatic cholestasis type 1 [PFIC1])
Mild-to-moderate ATP8B1 deficiency (benign recurrent intrahepatic cholestasis 1 [BRIC1])
For synonyms and outdated names see
• Severe ATP8B1 deficiency (progressive familial intrahepatic cholestasis type 1 [PFIC1])
• Mild-to-mod... | [] | 15/10/2001 | 9/9/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
ph1 | ph1 | [
"Alanine-glyoxylate transaminase",
"AGXT",
"Primary Hyperoxaluria Type 1"
] | Primary Hyperoxaluria Type 1 | Dawn S Milliner, Peter C Harris, David J Sas, Andrea G Cogal, John C Lieske | Summary Primary hyperoxaluria type 1 (PH1) is caused by deficiency of the liver peroxisomal enzyme alanine-glyoxylate aminotransferase (AGT), which catalyzes the conversion of glyoxylate to glycine. When AGT activity is reduced or absent, glyoxylate is converted to oxalate, which cannot be metabolized and must be excre... | ## Diagnosis
Consensus guidelines for the diagnostic approach to individuals with a suspicion of primary hyperoxaluria and management of all types of primary hyperoxaluria have been published [
Primary hyperoxaluria type 1 (PH1)
Impaired kidney function or poor weight gain and/or poor linear growth of undetermined... | [] | 19/6/2002 | 15/8/2024 | 10/2/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
ph2 | ph2 | [
"Glyoxylate Reductase/Hydroxypyruvate Reductase Deficiency",
"Glyoxylate Reductase/Hydroxypyruvate Reductase Deficiency",
"Glyoxylate reductase/hydroxypyruvate reductase",
"GRHPR",
"Primary Hyperoxaluria Type 2"
] | Primary Hyperoxaluria Type 2 | Gill Rumsby, Sally-Anne Hulton | Summary Primary hyperoxaluria type 2 (PH2), caused by deficiency of the enzyme glyoxylate reductase/hydroxypyruvate reductase (GR/HPR), is characterized by recurrent nephrolithiasis (deposition of calcium oxalate in the renal pelvis / urinary tract), nephrocalcinosis (deposition of calcium oxalate in the renal parenchy... | ## Diagnosis
Primary hyperoxaluria type 2 (PH2)
Symptoms of nephrolithiasis (e.g., hematuria, renal colic, obstruction of the urinary tract)
Frequent recurrent nephrolithiasis
Nephrocalcinosis
End-stage kidney disease with a history of nephrolithiasis
The diagnosis of PH2
Note: (1) Per ACMG/AMP variant inter... | [] | 2/12/2008 | 21/12/2017 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
ph3 | ph3 | [
"Probable 4-hydroxy-2-oxoglutarate aldolase, mitochondrial",
"HOGA1",
"Primary Hyperoxaluria Type 3"
] | Primary Hyperoxaluria Type 3 | Dawn S Milliner, Peter C Harris, David J Sas, John C Lieske | Summary Primary hyperoxaluria type 3 (PH3) is characterized by recurring calcium oxalate stones beginning in childhood or adolescence and, on occasion, nephrocalcinosis or reduced kidney function. PH3 most often presents in childhood (median age 2 to 3 years) with signs or symptoms related to stones including hematuria... | ## Diagnosis
For recently published algorithms for the diagnosis of the primary hyperoxalurias (PH), see
Primary hyperoxaluria type 3 (PH3)
Calcium oxalate stones, especially when in both kidneys
Recurring calcium oxalate stones
Onset of stone disease in childhood or adolescence
Reduced kidney function in the p... | [] | 24/9/2015 | 9/2/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
pha2 | pha2 | [
"Familial Hyperkalemic Hypertension",
"Gordon's Syndrome",
"PHAII",
"PHAII",
"Gordon’s Syndrome",
"Familial Hyperkalemic Hypertension",
"Cullin-3",
"Kelch-like protein 3",
"Serine/threonine-protein kinase WNK1",
"Serine/threonine-protein kinase WNK4",
"CUL3",
"KLHL3",
"WNK1",
"WNK4",
"Ps... | Pseudohypoaldosteronism Type II | David H Ellison | Summary Pseudohypoaldosteronism type II (PHAII) is characterized by hyperkalemia despite normal glomerular filtration rate (GFR) and frequently by hypertension. Other associated findings in both children and adults include hyperchloremia, metabolic acidosis, and suppressed plasma renin levels. Aldosterone levels are va... | ## Diagnosis
No formal diagnostic criteria for PHAII have been published.
Pseudohypoaldosteronism type II (PHAII)
Hyperkalemia in the absence of impaired glomerular filtration
Serum concentration of potassium ranges from mildly (serum K ~5.0-6.0 mmol/L) to severely elevated (>8.0 mmol/L) (normal range: ~3.5-5.1 m... | [
"LM Boyden, M Choi, KA Choate, CJ Nelson-Williams, A Farhi, HR Toka, IR Tikhonova, R Bjornson, SM Mane, G Colussi, M Lebel, RD Gordon, BA Semmekrot, A Poujol, MJ Valimaki, ME De Ferrari, SA Sanjad, M Gutkin, FE Karet, JR Tucci, JR Stockigt, KM Keppler-Noreuil, CC Porter, SK Anand, ML Whiteford, ID David, SB Dewar, ... | 10/11/2011 | 16/2/2017 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
phs | phs | [
"Transcriptional activator GLI3",
"GLI3",
"GLI3-Related Pallister-Hall Syndrome"
] | Leslie G Biesecker | Summary The diagnosis of | ## Diagnosis
Consensus clinical diagnostic criteria for
Note: Neither cranial CT examination nor cranial ultrasound examination is adequate for diagnosis of hypothalamic hamartoma.
Postaxial polydactyly is probably more common than mesoaxial polydactyly; however, the nonspecificity of postaxial polydactyly and the h... | [] | 25/5/2000 | 18/8/2022 | 22/2/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
phts | phts | [
"PHTS",
"Cowden Syndrome (CS)",
"Bannayan-Riley-Ruvalcaba Syndrome (BRRS)",
"PTEN-Related Proteus-Like Syndrome",
"PTEN-Related Proteus Syndrome (PS)",
"Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN",
"PTEN",
"PTEN Hamartoma Tumor Syndrome (PHTS)"... | Lamis Yehia, Charis Eng | Summary The CS is a multiple hamartoma syndrome with a high risk for benign and malignant tumors of the thyroid, breast, kidney, and endometrium. Affected individuals usually have macrocephaly, trichilemmomas, and papillomatous papules, and present by the late 20s. The lifetime risk of developing breast cancer is 85%, ... | Cowden syndrome (CS)
Bannayan-Riley-Ruvalcaba syndrome (BRRS)
For synonyms and outdated names see
For other genetic causes of these phenotypes see
• Cowden syndrome (CS)
• Bannayan-Riley-Ruvalcaba syndrome (BRRS)
## Diagnosis
The
Based on more than 3,000 prospectively accrued cases of CS or Cowden-like syndrome... | [] | 29/11/2001 | 11/2/2021 | 7/8/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
pi4ka | pi4ka | [
"PI4KA-Related Hypomyelinating Leukodystrophy with Pyramidal Features, Developmental Delay, and Intellectual Disability with or without Inflammatory Bowel Disease",
"PI4KA-Related Severe Antenatal-Onset Neurologic Disorder with Arthrogryposis and Structural Brain Anomalies",
"PI4KA-Related Multiple Intestinal A... | Emma L Baple, Claire Salter, Holm Uhlig, Nicole I Wolf, Andrew H Crosby | Summary The diagnosis of | Hypomyelinating leukodystrophy with pyramidal features, developmental delay, and intellectual disability ± inflammatory bowel disease
Severe antenatal-onset neurologic disorder with arthrogryposis and structural brain anomalies
Multiple intestinal atresia ± immunodeficiency
Later-onset pure hereditary spastic parapl... | [] | 11/8/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
pik3ca-overgrowth | pik3ca-overgrowth | [
"PROS",
"PROS",
"Megalencephaly-Capillary Malformation (MCAP) Syndrome",
"Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Scoliosis/Skeletal and Spinal (CLOVES) Syndrome",
"PIK3CA-Related Fibroadipose Hyperplasia or Overgrowth (FAO)",
"Klippel-Trenaunay Syndrome",
"Dysplastic M... | Ghayda Mirzaa, John M Graham, Kim Keppler-Noreuil | Summary The diagnosis of PROS is established in a proband with suggestive findings and a heterozygous mosaic (or rarely, constitutional) activating pathogenic variant in PROS disorders are not known to be inherited, as most identified pathogenic variants are somatic (mosaic). No confirmed vertical transmission or sib r... | Megalencephaly-capillary malformation (MCAP) syndrome
Dysplastic megalencephaly (DMEG), hemimegalencephaly (HMEG) and focal cortical dysplasia (FCD)
Congenital lipomatous overgrowth, vascular malformations, epidermal nevi, scoliosis/skeletal and spinal (CLOVES) syndrome
Klippel-Trenaunay syndrome
CLAPO syndrome
Is... | [] | 15/8/2013 | 23/12/2021 | 6/4/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
pink1-pd | pink1-pd | [
"PARK-PINK1",
"PARK-PINK1",
"Serine/threonine-protein kinase PINK1, mitochondrial",
"PINK1",
"PINK1 Type of Young-Onset Parkinson Disease"
] | Lara M Lange, Christine Klein | Summary The diagnosis of | ## Diagnosis
Updated guidelines on the molecular diagnosis of Parkinson disease were provided in a joint effort by the European Federation of Neurological Societies (EFNS), the European Section of the International Parkinson and Movement Disorders Society (MDS-ES), and the European Neurological Society (ENS) [
In add... | [] | 16/3/2010 | 25/4/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
pitt-hopkins | pitt-hopkins | [
"TCF4-Related Pitt-Hopkins Syndrome",
"TCF4-Related Pitt-Hopkins Syndrome",
"Transcription factor 4",
"TCF4",
"Pitt-Hopkins Syndrome"
] | Pitt-Hopkins Syndrome | David A Sweetser, Kevin S Gipson, Claire Zar-Kessler | Summary Pitt-Hopkins syndrome (PTHS) is characterized by distinctive facial features, significant developmental delays with moderate-to-severe intellectual disability, neurobehavioral/psychiatric manifestations (e.g., stereotypic hand movements, autism spectrum disorder), and autonomic dysfunction (e.g., episodic hyper... | ## Diagnosis
Clinical and molecular diagnostic criteria for Pitt-Hopkins syndrome (PTHS) have been established [
PTHS
Delayed motor milestones, often associated with hypotonia
Severely limited-to-absent speech, with regression in verbal abilities in some individuals
Intellectual disability, typically moderate ... | [] | 30/8/2012 | 22/5/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
pjs | pjs | [
"PJS",
"PJS",
"Serine/threonine-protein kinase STK11",
"STK11",
"Peutz-Jeghers Syndrome"
] | Peutz-Jeghers Syndrome | Thomas J McGarrity, Christopher I Amos, Maria J Baker | Summary Peutz-Jeghers syndrome (PJS) is characterized by the association of gastrointestinal (GI) polyposis, mucocutaneous pigmentation, and cancer predisposition. PJS-type hamartomatous polyps are most common in the small intestine (in order of prevalence: jejunum, ileum, and duodenum) but can also occur in the stomac... | ## Diagnosis
Peutz-Jeghers syndrome (PJS)
Two or more PJS-type hamartomatous polyps of the gastrointestinal (GI) tract.
Characteristic mucocutaneous pigmentation and hyperpigmented macules (periorbital, lips, fingers, nose, toes, and anus)
Gynecomastia in males as a result of estrogen-producing Sertoli cell testicu... | [] | 23/2/2001 | 2/9/2021 | 19/5/2004 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
pkan | pkan | [
"PKAN",
"PKAN",
"HARP Syndrome",
"Atypical PKAN",
"Pantothenate kinase 2, mitochondrial",
"PANK2",
"Pantothenate Kinase-Associated Neurodegeneration"
] | Pantothenate Kinase-Associated Neurodegeneration | Allison Gregory, Susan J Hayflick | Summary Pantothenate kinase-associated neurodegeneration (PKAN) is a type of neurodegeneration with brain iron accumulation (NBIA). The phenotypic spectrum of PKAN includes classic PKAN and atypical PKAN. Classic PKAN is characterized by early-childhood onset of progressive dystonia, dysarthria, rigidity, and choreoath... | Classic PKAN
Atypical PKAN
For synonyms and outdated names see
For other genetic causes of these phenotypes see
• Classic PKAN
• Atypical PKAN
## Diagnosis
Pantothenate kinase-associated neurodegeneration (PKAN)
Dystonia
Dysarthria
Spasticity
Choreoathetosis
Parkinsonism
Hyperreflexia
Extensor toe signs... | [
"L Chiapparini, M Savoiardo, S D’Arrigo, C Reale, G Zorzi, F Zibordi, DM Cordelli, E Franzoni, B Garavaglia, N Nardocci. The \"eye-of-the-tiger\" sign may be absent in the early stages of classic pantothenate kinase associated neurodegeneration.. Neuropediatrics 2011;42:159-62",
"KH Ching, SK Westaway, J Gitschie... | 13/8/2002 | 3/8/2017 | 9/1/2008 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
pkd-ad | pkd-ad | [
"ADPKD",
"ADPKD",
"Polycystic Kidney Disease 1, Autosomal Dominant",
"Polycystic Kidney Disease 2, Autosomal Dominant",
"Alpha-1,2-mannosyltransferase ALG9",
"DnaJ homolog subfamily B member 11",
"Dolichyl-phosphate beta-glucosyltransferase",
"Intraflagellar transport protein 140 homolog",
"Neutral ... | Polycystic Kidney Disease, Autosomal Dominant | Peter C Harris, Vicente E Torres | Summary Autosomal dominant polycystic kidney disease (ADPKD) is generally a late-onset multisystem disorder characterized by bilateral kidney cysts, liver cysts, and an increased risk of intracranial aneurysms. Other manifestations include: cysts in the pancreas, seminal vesicles, and arachnoid membrane; dilatation of ... | ## Diagnosis
Diagnostic criteria for autosomal dominant polycystic kidney disease (ADPKD) are discussed in the executive summary of the KDIGO Controversies Conference [
ADPKD
Multiple bilateral kidney cysts and absence of manifestations suggestive of a different cystic kidney disease
Cysts in other organs, especial... | [] | 10/1/2002 | 29/9/2022 | 2/6/2009 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
pkd-ar | pkd-ar | [
"ARPKD-PKHD1",
"ARPKD-PKHD1",
"Fibrocystin",
"PKHD1",
"Autosomal Recessive Polycystic Kidney Disease – PKHD1"
] | Autosomal Recessive Polycystic Kidney Disease – | Kathrin Burgmaier, Charlotte Gimpel, Franz Schaefer, Max Liebau | Summary Autosomal recessive polycystic kidney disease – The molecular diagnosis of ARPKD- ARPKD- | The topic of this
Autosomal Recessive Polycystic Kidney Disease –
Enlarged hyperechogenic kidneys
Variable CKD
Inhomogeneous liver parenchyma due to CHF
Hepatomegaly
Bile duct dilatation / cystic changes
Normal biochemical liver function
Enlarged hyperechogenic kidneys
Micro- & macrocysts
Variable CKD
Inhomo... | [] | 19/7/2001 | 4/4/2024 | 14/2/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
pknd | pknd | [
"Paroxysmal Kinesigenic Choreoathetosis",
"Paroxysmal Kinesigenic Dyskinesia",
"Paroxysmal Kinesigenic Choreoathetosis",
"Paroxysmal Kinesigenic Dyskinesia",
"Proline-rich transmembrane protein 2",
"PRRT2",
"Familial Paroxysmal Kinesigenic Dyskinesia"
] | Familial Paroxysmal Kinesigenic Dyskinesia – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY | Sian Spacey, Paul Adams | Summary Familial paroxysmal kinesigenic dyskinesia (referred to as familial PKD in this entry) is characterized by unilateral or bilateral involuntary movements precipitated by other sudden movements such as standing up from a sitting position, being startled, or changes in velocity; attacks include combinations of dy... | ## Diagnosis
The following findings support the clinical diagnosis of familial paroxysmal kinesigenic dyskinesia (PKD) [
Attacks of dystonia, chorea, ballismus, or athetosis triggered by sudden movement (e.g., having the individual stand up suddenly or walk briskly up and down the hall)
Attack duration lasting secon... | [
"Y Baba, ZK Wszolek, MM Normand. Paroxysmal kinesigenic dyskinesia associated with central pontine myelinolysis.. Parkinsonism Relat Disord 2003;10:113",
"KP Bhatia. The paroxysmal dyskinesias.. J Neurol 1999;246:149-55",
"KP Bhatia. Familial (idiopathic) paroxysmal dyskinesias: an update.. Semin Neurol 2001;21... | 24/6/2005 | 27/6/2013 | 15/3/2012 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
pku | pku | [
"Hyperphenylalaninemia",
"PAH Deficiency",
"Phenylketonuria (PKU)",
"PAH Deficiency",
"Hyperphenylalaninemia",
"Phenylketonuria (PKU)",
"Phenylalanine-4-hydroxylase",
"PAH",
"Phenylalanine Hydroxylase Deficiency"
] | Phenylalanine Hydroxylase Deficiency | Georgianne Arnold, Jerry Vockley | Summary The phenotypes in individuals with phenylalanine hydroxylase (PAH) deficiency include PAH deficiency treated from birth and late-diagnosed or untreated PAH deficiency. Maternal phenylketonuria (MPKU) syndrome occurs in offspring of mothers with inadequately treated PAH deficiency during pregnancy and results fr... | ## Diagnosis
Recently published recommendations from the American College of Medical Genetics and Genomics (ACMG) for the diagnosis and management of phenylalanine hydroxylase (PAH) deficiency [
A diagnosis of PAH deficiency should be suspected due to an out-of-range newborn screening (NBS) result prior to onset of s... | [] | 10/1/2000 | 13/3/2025 | 5/1/2017 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
plosl | plosl | [
"Nasu-Hakola Disease",
"PLOSL",
"Nasu-Hakola Disease",
"PLOSL",
"Triggering receptor expressed on myeloid cells 2",
"TYRO protein tyrosine kinase-binding protein",
"TREM2",
"TYROBP",
"Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy"
] | Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy | Juha Paloneva, Taina Autti, Panu Hakola, Matti J Haltia | Summary Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) is characterized by fractures (resulting from radiologically demonstrable polycystic osseous lesions), frontal lobe syndrome, and progressive presenile dementia beginning in the fourth decade. The clinical course of PLOSL can b... | ## Diagnosis
No consensus clinical diagnostic criteria for polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) have been published.
PLOSL
The clinical diagnosis of PLOSL can be
Note: (1) Per ACMG/AMP variant interpretation guidelines, the terms "pathogenic variants" and "likely path... | [
"N Aoki, K Tsuchiya, T Togo, Z Kobayashi, H Uchikado, O Katsuse, K Suzuki, H Fujishiro, T Arai, E Iseki, M Anno, K Kosaka, H Akiyama, Y Hirayasu. Gray matter lesions in Nasu-Hakola disease: a report on three autopsy cases.. Neuropathology. 2011;31:135-43",
"M Arıkan, A Yıldırım, G Togral, AB Ekmekçi. Extremity ma... | 24/1/2002 | 10/12/2020 | 16/4/2009 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
plpbp-def | plpbp-def | [
"PLPHP Deficiency",
"PROSC Deficiency",
"Pyridoxal 5'-Phosphate Homeostasis Protein Deficiency",
"Pyridoxal 5'-Phosphate-Binding Protein Deficiency",
"PDE-PLPBP",
"PLPHP Deficiency",
"PROSC Deficiency",
"Pyridoxal 5'-Phosphate Homeostasis Protein Deficiency",
"Pyridoxal 5'-Phosphate-Binding Protein ... | PLPBP Deficiency | Hilal Al-Shekaili, Jolita Ciapaite, Clara van Karnebeek, Izabella Pena | Summary PLPBP deficiency is a treatable form of vitamin B The diagnosis of PLPBP deficiency is established in a proband with suggestive findings and biallelic pathogenic variants in When prenatal testing has not been performed on a pregnancy at risk, prompt diagnostic evaluation of the newborn is essential. While resul... | ## Diagnosis
No consensus clinical diagnostic criteria for PLPBP deficiency have been published.
PLPBP deficiency should be suspected in individuals with the following clinical findings, imaging findings, clinical response to a standardized vitamin B
Difficult-to-treat seizures irrespective of a history of fetal d... | [] | 16/2/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
pmd | pmd | [
"Spastic Paraplegia 2 (SPG2)",
"Pelizaeus-Merzbacher Disease (PMD)",
"PLP1 Null Syndrome",
"Hypomyelination of Early Myelinating Structures (HEMS)",
"Myelin proteolipid protein",
"PLP1",
"PLP1-Related Disorders"
] | Nicole I Wolf, Rosalina ML van Spaendonk, Grace M Hobson | Summary The diagnosis of a | Pelizaeus-Merzbacher disease
Hypomyelination of early myelinating structures
Spastic paraplegia 2
For synonyms and outdated names see
For other genetic causes of these phenotypes, see
• Pelizaeus-Merzbacher disease
• Hypomyelination of early myelinating structures
• Spastic paraplegia 2
## Diagnosis
For the pu... | [] | 15/6/1999 | 12/6/2025 | 7/10/2004 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
pmld1 | pmld1 | [
"Hypomyelinating Leukodystrophy 2 (HLD2)",
"PMLD1",
"PMLD1",
"Hypomyelinating Leukodystrophy 2 (HLD2)",
"Gap junction gamma-2 protein",
"GJC2",
"Pelizaeus-Merzbacher-Like Disease 1"
] | Pelizaeus-Merzbacher-Like Disease 1 | Norah Nahhas, Alex Conant, Jennifer Orthmann-Murphy, Adeline Vanderver, Grace Hobson | Summary Pelizaeus-Merzbacher-like disease 1 (PMLD1) is a slowly progressive leukodystrophy that typically presents during the neonatal or early-infantile period with nystagmus, commonly associated with hypotonia, delayed acquisition of motor milestones, speech delay, and dysarthria. Over time the hypotonia typically ev... | ## Diagnosis
Pelizaeus-Merzbacher-like disease 1 (PMLD1)
Nystagmus that typically presents during the neonatal period or early infancy
Mainly motor developmental delay and central hypotonia during infancy
Signs of upper motor neuron dysfunction (including spasticity, brisk deep tendon reflexes, and Babinski sign)... | [
"CK Abrams, SS Scherer, R Flores-Obando, MM Freidin, S Wong, E Lamantea, L Farina, V Scaioli, D Pareyson, E Salsano. A new mutation in GJC2 associated with subclinical leukodystrophy.. J Neurol 2014;261:1929-38",
"SA Al-Yahyaee, M Al-Kindi, PD Jonghe, A Al-Asmi, A Al-Futaisi, ED Vriendt, T Deconinck, P Chand. Pel... | 21/12/2017 | 17/1/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
pnknd | pnknd | [
"Paroxysmal Dystonic Choreoathetosis",
"Paroxysmal Nonkinesigenic Dyskinesia",
"PNKD",
"PNKD",
"Paroxysmal Dystonic Choreoathetosis",
"Paroxysmal Nonkinesigenic Dyskinesia",
"Probable thioesterase PNKD",
"PNKD",
"Familial Paroxysmal Nonkinesigenic Dyskinesia"
] | Familial Paroxysmal Nonkinesigenic Dyskinesia | Roberto Erro | Summary Familial paroxysmal nonkinesigenic dyskinesia (PNKD) is characterized by unilateral or bilateral involuntary movements. Attacks are typically precipitated by coffee, tea, or alcohol; they can also be triggered by excitement, stress, or fatigue, or can be spontaneous. Attacks involve dystonic posturing with chor... | ## Diagnosis
Familial paroxysmal nonkinesigenic dyskinesia (PNKD)
Attacks:
Of dystonia, chorea, and/or ballismus, with onset during infancy
That can be provoked by alcohol or caffeine
Not typically triggered by sudden movement or sustained exercise
Lasting several minutes to hours
Rarely occurring more than once... | [
"KP Bhatia. The paroxysmal dyskinesias.. J Neurol 1999;246:149-55",
"KP Bhatia. Familial (idiopathic) paroxysmal dyskinesias: an update.. Semin Neurol 2001;21:69-74",
"MK Bruno, HY Lee, GW Auburger, A Friedman, JE Nielsen, AE Lang, E Bertini, P Van Bogaert, Y Averyanov, M Hallett, K Gwinn-Hardy, B Sorenson, M P... | 24/6/2005 | 4/4/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
pnpla6-dis | pnpla6-dis | [
"Spastic Paraplegia Type 39 (SPG39)",
"Boucher-Neuhäuser Syndrome (BNS)",
"PNPLA6 Gordon Holmes Syndrome (GHS)",
"Oliver-McFarlane Syndrome (OMCS)",
"PNPLA6-Related Laurence-Moon Syndrome (LMS)",
"Patatin-like phospholipase domain-containing protein 6",
"PNPLA6",
"PNPLA6 Disorders"
] | Matthis Synofzik, Robert B Hufnagel, Stephan Züchner | Summary The diagnosis of a Ataxia. Continuous training of speech and swallowing, fine-motor skills, gait, and balance Spasticity. Interventions to improve strength and agility and to prevent contractures, such as physical therapy, assistive walking devices and/or ankle-foot orthotics, and drugs to reduce muscle spastic... | Boucher-Neuhäuser syndrome (BNS)
Oliver-McFarlane syndrome (OMCS)
Spastic paraplegia type 39 (SPG39)
• Boucher-Neuhäuser syndrome (BNS)
• Oliver-McFarlane syndrome (OMCS)
• Spastic paraplegia type 39 (SPG39)
## Diagnosis
No consensus clinical diagnostic criteria for
A
Cerebellar ataxia (associated with cereb... | [] | 9/10/2014 | 10/6/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
pnpo-def | pnpo-def | [
"Pyridox(am)ine 5'-Phosphate Oxidase Deficiency",
"Pyridox(am)ine 5'-Phosphate Oxidase Deficiency",
"Pyridoxal 5'-Phosphate (PLP)-Dependent Epilepsy",
"Pyridoxine (PN)-Dependent Epilepsy",
"Pyridoxine-5'-phosphate oxidase",
"PNPO",
"PNPO Deficiency"
] | PNPO Deficiency | Barbara Plecko, Philippa Mills | Summary Untreated pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency, characterized by a range of seizure types, is "classic" (i.e., seizure onset in the neonatal period) in about 90% of affected individuals and "late onset" (seizure onset after the neonatal period) in about 10%. In classic PNPO deficiency, seizures... | PNPO Deficiency: Included Phenotypes
For synonyms and outdated names, see
## Diagnosis
No consensus clinical diagnostic criteria for pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency have been published.
PNPO deficiency should be suspected in individuals with the following suggestive clinical phenotypes, positi... | [] | 23/6/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
poikiloderma-n | poikiloderma-n | [
"Clericuzio-Type Poikiloderma with Neutropenia",
"Clericuzio-Type Poikiloderma with Neutropenia",
"U6 snRNA phosphodiesterase 1",
"USB1",
"Poikiloderma with Neutropenia"
] | Poikiloderma with Neutropenia | Lisa Wang, Carol Clericuzio, Lidia Larizza, Daniela Concolino | Summary Poikiloderma with neutropenia (PN) is characterized by an inflammatory eczematous rash (appears at ages 6-12 months) followed by post-inflammatory poikiloderma (at age >2 years) and chronic noncyclic neutropenia typically associated with recurrent sinopulmonary infections in the first two years of life and (oft... | ## Diagnosis
Poikiloderma with neutropenia (PN)
Between ages six and 12 months, inflammatory eczematous rash appearing first on the limbs and progressing to the trunk, face, and on occasion the pinnae
After age two years, post-inflammatory poikiloderma (areas of hyper- and hypopigmentation, atrophy, and telangiect... | [] | 26/10/2017 | 22/2/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
pol3-leuk | pol3-leuk | [
"4H Leukodystrophy",
"4H Leukodystrophy",
"DNA-directed RNA polymerase III subunit RPC1",
"DNA-directed RNA polymerase III subunit RPC2",
"DNA-directed RNA polymerases I and III subunit RPAC1",
"POLR1C",
"POLR3A",
"POLR3B",
"POLR3-Related Leukodystrophy"
] | POLR3-Related Leukodystrophy | Geneviève Bernard, Adeline Vanderver | Summary POLR3-related leukodystrophy, a hypomyelinating leukodystrophy with specific features on brain MRI, is characterized by varying combinations of four major clinical findings: Neurologic dysfunction, typically predominated by motor dysfunction (progressive cerebellar dysfunction, and to a lesser extent extrapyram... | ## Diagnosis
POLR3-related leukodystrophy
Neurologic dysfunction: progressive cerebellar features, including:
Gait ataxia, dysarthria, dysmetria, tremor, eye movement abnormalities; and
To a lesser extent, extrapyramidal (typically dystonia), pyramidal, and cognitive features
Abnormal dentition (e.g., hypodontia, ... | [] | 2/8/2012 | 11/5/2017 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
poly | poly | [
"Polymicrogyria",
"Overview"
] | Polymicrogyria Overview – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY | Chloe A Stutterd, William B Dobyns, Anna Jansen, Ghayda Mirzaa, Richard J Leventer | Summary The following are the goals of this overview. Describe the neuroimaging Review the Provide an Inform | ## Definition and Clinical Characteristics of Polymicrogyria
Polymicrogyria (PMG) is a malformation of the developing brain characterized by abnormal cortical lamination and an unusual folding pattern of the cerebral cortex such that all or part of the brain surface is taken up by an excessive number of small gyri (f... | [] | 18/4/2005 | 16/8/2018 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
pomc-def | pomc-def | [
"POMC Deficiency",
"POMC Deficiency",
"Pro-opiomelanocortin",
"POMC",
"Proopiomelanocortin Deficiency"
] | Proopiomelanocortin Deficiency – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY | Ben G Challis, George WM Millington | Summary Proopiomelanocortin (POMC) deficiency is characterized by severe, early-onset hyperphagic obesity and congenital adrenal insufficiency, the latter secondary to corticotropin (ACTH) deficiency. In the first months of life most children with POMC deficiency experience exponential weight gain, hyperphagia, choles... | ## Diagnosis
There are no formal diagnostic criteria for proopiomelanocortin (POMC) deficiency.
The diagnosis of POMC deficiency
Severe, hyperphagic obesity of onset in infancy
Congenital adrenal insufficiency, resulting from corticotropin (ACTH) deficiency
The diagnosis of POMC deficiency in a proband
Very fair ... | [
"IR Aslan, SA Ranadive, I Valle, S Kollipara, JA Noble, C Vaisse. The melanocortin system and insulin resistance in humans: insights from a patient with complete POMC deficiency and type 1 diabetes mellitus.. Int J Obes (Lond) 2014;38:148-51",
"BG Challis, LE Pritchard, JWM Creemers, J Delplanque, JM Keogh, J Lua... | 12/12/2013 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
porphyria-ct | porphyria-ct | [
"Familial PCT (F-PCT)",
"Porphyria Cutanea Tarda, Type II (Type II PCT)",
"UROD-Related Porphyria Cutanea Tarda",
"Familial PCT (F-PCT)",
"Porphyria Cutanea Tarda, Type II (Type II PCT)",
"UROD-Related Porphyria Cutanea Tarda",
"Uroporphyrinogen decarboxylase",
"UROD",
"Familial Porphyria Cutanea Ta... | Familial Porphyria Cutanea Tarda | Sean Rudnick, John Phillips, Herbert Bonkovsky | Summary Familial porphyria cutanea tarda (F-PCT) is characterized by: skin findings including blistering over the dorsal aspects of the hands and other sun-exposed areas of skin, skin friability after minor trauma, facial hypertrichosis and hyperpigmentation, and severe thickening of affected skin areas (pseudosclerode... | ## Diagnosis
Familial porphyria cutanea tarda (F-PCT)
Photosensitivity resulting in fluid-filled vesicles, bullae, blisters, and sores developing over the dorsal aspects of the hands and other sun-exposed areas of skin (e.g., forearms, face and scalp, ears, neck, legs, and feet). Because the blister fluid is high in ... | [
"A Aziz Ibrahim, UI Esen. Porphyria cutanea tarda in pregnancy: a case report.. J Obstet Gynaecol 2004;24:574-5",
"CM Baravelli, S Sandberg, A Aarsand, M Tollanes. Porphyria cutanea tarda increases risk of hepatocellular carcinoma and premature death: a nationwide cohort study.. Orphanet J Rare Dis. 2019;14:77",
... | 6/6/2013 | 9/6/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
porphyria-var | porphyria-var | [
"Porphyria Variegata",
"Porphyria Variegata",
"Protoporphyrinogen oxidase",
"PPOX",
"Variegate Porphyria"
] | Variegate Porphyria | Ashwani K Singal, Karl E Anderson | Summary Variegate porphyria (VP) is both a cutaneous porphyria (with chronic blistering skin lesions) and an acute porphyria (with severe episodic neurovisceral symptoms). The most common manifestation of VP is adult-onset cutaneous blistering lesions (subepidermal vesicles, bullae, and erosions that crust over and hea... | ## Diagnosis
Variegate porphyria (VP)
Abdominal pain. The pain is typically severe, steady rather than cramping, and diffuse rather than localized. Because the pain is neuropathic rather than inflammatory, abdominal findings are minimal compared to the severity of the pain. Ileus and bladder distension may be prese... | [
"C Andant, H Puy, C Bogard, J Faivre, JC Soulé, Y Nordmann, JC Deybach. Hepatocellular carcinoma in patients with acute hepatic porphyria: frequency of occurrence and related factors.. J Hepatol. 2000;32:933-9",
"KE Anderson, JR Bloomer, HL Bonkovsky, JP Kushner, CA Pierach, NR Pimstone, RJ Desnick. Recommendatio... | 14/2/2013 | 12/12/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
pot1-tpd | pot1-tpd | [
"Protection of telomeres protein 1",
"POT1",
"POT1 Tumor Predisposition"
] | Marie-Louise Accardo, Jenae Osborne, Tobias Else | Summary The diagnosis of | ## Diagnosis
No consensus clinical diagnostic criteria for
Multiple cutaneous melanomas
One of the
A
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 diag... | [] | 29/10/2020 | 13/2/2025 | 10/3/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
potocki-lupski | potocki-lupski | [
"Duplication 17p11.2 Syndrome",
"PTLS",
"Duplication 17p11.2 Syndrome",
"PTLS",
"Folliculin",
"Retinoic acid-induced protein 1",
"FLCN",
"RAI1",
"Potocki-Lupski Syndrome"
] | Potocki-Lupski Syndrome | Lorraine Potocki, Juanita Neira-Fresneda, Bo Yuan | Summary Potocki-Lupski syndrome (PTLS) is characterized by cognitive, behavioral, and medical manifestations. Cognitively, most individuals present with developmental delay, later meeting criteria for moderate intellectual disability. Behaviorally, issues with attention, hyperactivity, withdrawal, and anxiety may be se... | ## Diagnosis
Potocki-Lupski syndrome (PTLS)
Neurodevelopmental findings:
Mild-to-moderate infantile hypotonia with oropharyngeal dysphagia and failure to thrive
Developmental delay; intellectual disability (typically moderate)
Communication disorder with verbal apraxia and abnormalities of intonation and prosody
... | [
"W. Bi. Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome.. Hum Mol Genet 2005;14:983-95",
"C Bravo, F Gámez, R Pérez, A Águarón, J. De León-Luis. Prenatal diagnosis of Potocki-Lupski syndrome in a fetus with hypoplastic left heart and ... | 24/8/2017 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
pp-blastoma | pp-blastoma | [
"DICER1 Pleuropulmonary Blastoma Familial Tumor Predisposition Syndrome",
"DICER1 Syndrome",
"DICER1 Syndrome",
"DICER1 Pleuropulmonary Blastoma Familial Tumor Predisposition Syndrome",
"Endoribonuclease Dicer",
"DICER1",
"DICER1 Tumor Predisposition"
] | Kris Ann P Schultz, Douglas R Stewart, Junne Kamihara, Andrew J Bauer, Melissa A Merideth, Pamela Stratton, Laryssa A Huryn, Anne K Harris, Leslie Doros, Amanda Field, Ann G Carr, Louis P Dehner, Yoav Messinger, D Ashley Hill | Summary The diagnosis of DICER1 is established by identification of a heterozygous germline DICER1 is inherited in an autosomal dominant manner with reduced penetrance. In individuals with PPB with a detectable germline | ## Diagnosis
Pleuropulmonary blastoma (PPB)
Single or multiple pulmonary cysts and/or pneumothorax identified in a newborn or young child
Thyroid adenomas, multinodular goiter, and/or well-differentiated thyroid cancer, especially in individuals with a family history of additional features of DICER1. Poorly differen... | [] | 24/4/2014 | 30/4/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
pph | pph | [
"Activin receptor type-1-like",
"Bone morphogenetic protein receptor type-1B",
"Bone morphogenetic protein receptor type-2",
"Caveolin-1",
"Endoglin",
"Methylcytosine dioxygenase TET2",
"Mothers against decapentaplegic homolog 9",
"Potassium channel subfamily K member 3",
"T-box transcription factor... | Heritable Pulmonary Arterial Hypertension Overview | Eric D Austin, John A Phillips, James E Loyd | Summary The purpose of this overview is to: Describe the Review the Provide an Review a high-level view of Inform | ## Clinical Characteristics of Heritable Pulmonary Arterial Hypertension
Note: Pulmonary hypertension (PH) is a general designation for increased blood pressure in the lungs from any cause and is classified into five groups by the World Symposium of PH (WSPH) [
Confirmation of the presence of PAH (i.e., mean pulmona... | [] | 18/7/2002 | 23/12/2020 | 20/12/2012 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
ppp1r12a-ubm | ppp1r12a-ubm | [
"Protein phosphatase 1 regulatory subunit 12A",
"PPP1R12A",
"PPP1R12A-Related Urogenital and/or Brain Malformation Syndrome"
] | Ebba Alkhunaizi, David Chitayat | Summary Individuals with The diagnosis of | ## Diagnosis
No consensus clinical diagnostic criteria for
Atypical external genitalia in individuals with a 46,XY chromosome complement, including:
Normal female external genitalia
Urogenital sinus abnormalities
Undervirilized male external genitalia with a high insertion of the scrotum, bifid scrotum with or w... | [] | 9/9/2021 | 7/3/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
ppp2r1a-ndd | ppp2r1a-ndd | [
"Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform",
"PPP2R1A",
"PPP2R1A-Related Neurodevelopmental Disorder"
] | Sofia Douzgou, Veerle Janssens, Gunnar Houge | Summary The diagnosis of | ## Diagnosis
No consensus clinical diagnostic criteria for
Mild-to-profound developmental delay and/or intellectual disability
Delayed walking
Language delay
Generalized hypotonia, postnatal/infantile onset
AND any of the following features presenting in infancy or childhood:
Feeding problems
Abnormal head circ... | [
"S Barbosa, S Greville-Heygate, M Bonnet, A Godwin, C Fagotto-Kaufmann, AV Kajava, D Laouteouet, R Mawby, HA Wai, AJM Dingemans, J Hehir-Kwa, M Willems, Y Capri, SG Mehta, H Cox, D Goudie, F Vansenne, P Turnpenny, M Vincent, B Cogné, G Lesca, J Hertecant, D Rodriguez, B Keren, L Burglen, M Gérard, A Putoux. C4RCD R... | 12/5/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
ppp2r5d-dis | ppp2r5d-dis | [
"Jordan's Syndrome",
"PPP2 Syndrome Type R5D",
"PPP2 Syndrome Type R5D",
"Jordan's Syndrome",
"Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform",
"PPP2R5D",
"PPP2R5D-Related Neurodevelopmental Disorder"
] | Ghayda Mirzaa, Kimberly Foss, Khemika Sudnawa, Wendy K Chung | Summary The diagnosis of | ## Diagnosis
No consensus clinical diagnostic criteria for
Generalized hypotonia of infancy
Mild-to-profound developmental delays and/or intellectual disability
Autism spectrum disorder
Macrocephaly
Epilepsy (reported seizure types: generalized tonic-clonic, myoclonic, multifocal, complex partial, and generaliz... | [] | 24/1/2019 | 9/1/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
ppr-dysp | ppr-dysp | [
"Progressive Pseudorheumatoid Arthropathy of Childhood",
"Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy",
"Progressive Pseudorheumatoid Arthropathy of Childhood",
"Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy",
"Cellular communication network factor 6",
"CCN6",
"Prog... | Progressive Pseudorheumatoid Dysplasia | Gandham SriLakshmi Bhavani, Hitesh Shah, Anju Shukla, Ashwin Dalal, Katta Mohan Girisha | Summary Progressive pseudorheumatoid dysplasia (PPD) is a skeletal dysplasia characterized by predominant involvement of articular cartilage with progressive joint stiffness and enlargement in the absence of inflammation. Onset – typically between ages three and six years – begins with the involvement of the interphala... | ## Diagnosis
No consensus clinical diagnostic criteria for progressive pseudorheumatoid dysplasia (PPD) have been published.
PPD
Healthy at birth
Onset of arthropathy early in childhood, usually between ages three and six years
Enlargement of interphalangeal joints of hands (
Progressive restricted mobility of ... | [
"GS Bhavani, H Shah, AB Dalal, A Shukla, S Danda, S Aggarwal, SR Phadke, N Gupta, M Kabra, K Gowrishankar, A Gupta, M Bhat, RD Puri, S Bijarnia-Mahay, S Nampoothiri, KM Mohanasundaram, S Rajeswari, AM Kulkarni, ML Kulkarni, P Ranganath, AR Ramadevi, SV Hariharan, KM Girisha. Novel and recurrent mutations in WISP3 a... | 25/11/2015 | 23/12/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
primrose | primrose | [
"Zinc finger and BTB domain-containing protein 20",
"ZBTB20",
"Primrose Syndrome"
] | Primrose Syndrome | Veronica Arora, Carlos R Ferreira, Ratna Dua Puri, Ishwar Chandar Verma | Summary Primrose syndrome is characterized by macrocephaly, hypotonia, developmental delay, intellectual disability with expressive speech delay, behavioral issues, a recognizable facial phenotype, radiographic features, and altered glucose metabolism. Additional features seen in adults: sparse body hair, distal muscle... | ## Diagnosis
No consensus clinical diagnostic criteria for Primrose syndrome have been published.
Primrose syndrome
Developmental delay with speech delay
Intellectual disability
Behavioral issues (e.g., autism spectrum disorder, attention-deficit/hyperactivity disorder)
Typically postnatal-onset macrocephaly (m... | [
"V Arora, E Leon, J Diaz, HB Hove, DR Carvalho, K Kurosawa, N Nishimura, G Nishimura, R Saxena, C Ferreira, RD Puri, IC Verma. Unique skeletal manifestations in patients with Primrose syndrome.. Eur J Med Genet. 2020;63",
"C Battisti, MT Dotti, A Cerase, A Rufa, F Sicurelli, C Scarpini, A Federico. The Primrose s... | 6/5/2021 | 17/6/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
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