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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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
whs | whs | [
"4p- Syndrome",
"Monosomy 4p",
"4p- Syndrome",
"Monosomy 4p",
"Pitt-Rogers-Danks Syndrome",
"Complexin-1",
"C-terminal-binding protein 1",
"Fibroblast growth factor receptor-like 1",
"GPI ethanolamine phosphate transferase 2",
"Histone-lysine N-methyltransferase NSD2",
"Mitochondrial proton/calc... | Wolf-Hirschhorn Syndrome – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY | Agatino Battaglia, John C Carey, Sarah T South | Summary Wolf-Hirschhorn syndrome (WHS) is characterized by typical craniofacial features in infancy consisting of "Greek warrior helmet" appearance of the nose (wide bridge of the nose continuing to the forehead), microcephaly, high anterior hairline with prominent glabella, widely spaced eyes, epicanthus, highly arch... | ## Diagnosis
Wolf-Hirschhorn syndrome (WHS)
"Greek warrior helmet" appearance of the nose (wide bridge of the nose continuing to the forehead)
Microcephaly
High anterior hairline with prominent glabella
Widely spaced eyes
Epicanthus
Highly arched eyebrows
Short philtrum
Downturned corners of the mouth
Microgn... | [
"EF Andersen, JC Carey, DL Earl, D Corzo, M Suttie, P Hammond, ST South. Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn Syndrome.. Eur J Hum Genet. 2014;22:464-70",
"T Antonius, J Draaisma, E Levichenko, N Knoers, W Renier, C van Ravenswaaij. Growth cha... | 29/4/2002 | 20/8/2015 | 24/3/2009 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
wiedemann-steiner | wiedemann-steiner | [
"KMT2A-Related Neurodevelopmental Disorder",
"KMT2A-Related Neurodevelopmental Disorder",
"Histone-lysine N-methyltransferase 2A",
"KMT2A",
"Wiedemann-Steiner Syndrome"
] | Wiedemann-Steiner Syndrome | Sarah E Sheppard, Fabiola Quintero-Rivera | Summary Wiedemann-Steiner syndrome (WSS) is characterized by developmental delay, intellectual disability, and characteristic facial features, with or without additional congenital anomalies. The facial features include thick eyebrows with lateral flare, vertically narrow and downslanted palpebral fissures, widely spac... | ## Diagnosis
No consensus clinical diagnostic criteria for Wiedemann-Steiner syndrome (WSS) have been published.
Wiedemann-Steiner syndrome
Distinctive facial features (
Hypertrichosis cubiti ("hairy elbows"), hypertrichosis of the back, and/or hypertrichosis of the lower limbs
Sacral dimple
Developmental delay... | [
"A Aggarwal, DF Rodriguez-Buritica, H Northrup. Wiedemann-Steiner syndrome: novel pathogenic variant and review of literature.. Eur J Med Genet. 2017;60:285-8",
"V Arora, RD Puri, S Bijarnia-Mahay, IC Verma. Expanding the phenotypic and genotypic spectrum of Wiedemann-Steiner syndrome: first patient from India.. ... | 26/5/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
williams | williams | [
"Williams-Beuren Syndrome",
"Williams-Beuren Syndrome",
"Elastin",
"General transcription factor II-I",
"General transcription factor II-I repeat domain-containing protein 1",
"LIM domain kinase 1",
"Neutrophil cytosol factor 1",
"Not applicable",
"ELN",
"GTF2I",
"GTF2IRD1",
"LIMK1",
"NCF1",... | Williams Syndrome | Colleen A Morris | Summary Williams syndrome (WS) is characterized by developmental delay, intellectual disability (usually mild), a specific cognitive profile, unique personality characteristics, cardiovascular disease (supravalvar aortic stenosis, peripheral pulmonary stenosis, hypertension), connective tissue abnormalities, growth def... | ## Diagnosis
Williams syndrome (WS)
Note: See the National Human Genome Research Institute (NHGRI)
The diagnosis of WS
Note: The phenotype of significantly larger or smaller deletions within this region may be clinically distinct from WS (see
Although several genes of interest (e.g.,
Note: (1) Most individuals wi... | [] | 9/4/1999 | 13/4/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
wilms-ov | wilms-ov | [
"Breast cancer type 2 susceptibility protein",
"Cellular tumor antigen p53",
"DIS3-like exonuclease 2",
"Endoribonuclease Dicer",
"Glypican-3",
"Glypican-4",
"Histone-lysine N-methyltransferase, H3 lysine-36 specific",
"Parafibromin",
"RE1-silencing transcription factor",
"RecQ-like DNA helicase B... | Wilms Tumor Predisposition | Joyce T Turner, Jack Brzezinski, Jeffrey S Dome | Summary The purpose of this Briefly describe the Review the Provide an Review Review | ## Clinical Characteristics of Wilms Tumor
Wilms tumor (nephroblastoma), an embryonal malignancy of the kidney, is the most common renal tumor of childhood [
Approximately 5%-10% of individuals with Wilms tumor have bilateral or multicentric tumors. The prevalence of bilateral involvement is higher in individuals wi... | [] | 19/12/2003 | 24/3/2022 | 24/5/2004 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
wilson | wilson | [
"Hepatolenticular Degeneration",
"Hepatolenticular Degeneration",
"Copper-transporting ATPase 2",
"ATP7B",
"Wilson Disease"
] | Wilson Disease | Karl Heinz Weiss, Michael Schilsky | Summary Wilson disease is a disorder of copper metabolism that, when untreated, can present with hepatic, neurologic, or psychiatric disturbances – or a combination of these – in individuals ages three years to older than 70 years. Manifestations in untreated individuals vary among and within families. Liver disease ca... | ## Diagnosis
The diagnostic algorithm for Wilson disease in the European Association for Study of Liver (EASL) Clinical Practice Guidelines [
Wilson disease
Note: Specific instances when Wilson disease should be considered is ALF with nonimmune hemolytic anemia or autoimmune hepatitis.
Dysarthria
Movement disorder... | [] | 22/10/1999 | 12/1/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
ws1 | ws1 | [
"Paired box protein Pax-3",
"PAX3",
"Waardenburg Syndrome Type I"
] | Waardenburg Syndrome Type I | Jeff Mark Milunsky | Summary Waardenburg syndrome type I (WS1) is an auditory-pigmentary disorder comprising congenital sensorineural hearing loss and pigmentary disturbances of the iris, hair, and skin along with dystopia canthorum (lateral displacement of the inner canthi). The hearing loss in WS1, observed in approximately 60% of affect... | ## Diagnosis
Waardenburg syndrome type I (WS1)
Congenital sensorineural hearing loss
White forelock, hair hypopigmentation
Pigmentation abnormality of the iris:
Complete heterochromia iridum (irides of different color)
Partial/segmental heterochromia (two different colors in same iris, typically brown and blue)... | [
"S Amirsalari, M Ajallouyean, A Saburi, A Haddadi Fard, M Abed, Y. Ghazavi. Cochlear implantation outcomes in children with Waardenburg syndrome.. Eur Arch Otorhinolaryngol. 2012;269:2179-83",
"JH Asher, A Sommer, R Morell, TB Friedman. Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-h... | 30/7/2001 | 20/10/2022 | 4/5/2017 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
wss | wss | [
"Hypogonadism, Alopecia, Diabetes Mellitus, Intellectual Disability, and Extrapyramidal Syndrome",
"Hypogonadism, Alopecia, Diabetes Mellitus, Intellectual Disability, and Extrapyramidal Syndrome",
"DDB1- and CUL4-associated factor 17",
"DCAF17",
"Woodhouse-Sakati Syndrome"
] | Woodhouse-Sakati Syndrome | Saeed A Bohlega, Ali Abusrair | Summary Virtually all individuals with Woodhouse-Sakati syndrome (WSS) have the endocrine findings of hypogonadism (evident at puberty) and progressive childhood-onset hair thinning that often progresses to alopecia totalis in adulthood. More than half of individuals have the neurologic findings of progressive extrapyr... | ## Diagnosis
No consensus clinical diagnostic criteria for Woodhouse-Sakati syndrome (WSS) have been published.
WSS
Hypogonadism (100% of individuals), hypogonadotropic in males and hypergonadotropic in females
Primary amenorrhea in females
Lack of development of secondary sexual characteristics in males and fem... | [
"MC Abdulla, AM Alazami, J Alungal, JM Koya, M Musambil. Novel compound heterozygous frameshift mutations of C2orf37 in a familial Indian case of Woodhouse-Sakati syndrome.. J Genet. 2015;94:489-92",
"M Abouelhoda, T Sobahy, M El-Kalioby, N Patel, H Shamseldin, D Monies, N Al-Tassan, K Ramzan, F Imtiaz, R Shaheen... | 4/8/2016 | 8/7/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
wt1-dis | wt1-dis | [
"Meacham Syndrome",
"Denys-Drash Syndrome",
"Frasier Syndrome",
"Wilms tumor protein",
"WT1",
"WT1 Disorder"
] | Beata S Lipska-Ziętkiewicz | Summary The diagnosis of | ## Diagnosis
Formal diagnostic criteria for
Note: This chapter on
Onset from infancy to the second or third decade of life
Manifestations in the order in which they typically (but not invariably) appear:
46,XY disorder of sex development (46,XY DSD)
External genitalia that can range over the following spectrum:
... | [] | 30/4/2020 | 15/5/2025 | 29/4/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
x-ag | x-ag | [
"Chromosome Xq26.3 Duplication Syndrome",
"X-LAG",
"XLAG",
"XLAG",
"X-LAG",
"Chromosome Xq26.3 Duplication Syndrome",
"Probable G-protein coupled receptor 101",
"GPR101",
"X-Linked Acrogigantism"
] | X-Linked Acrogigantism | Donato Iacovazzo, Márta Korbonits | Summary X-linked acrogigantism is the occurrence of pituitary gigantism in an individual heterozygous or hemizygous for a germline or somatic duplication of The diagnosis of X-linked acrogigantism is established in an individual with pituitary gigantism and a germline or somatic duplication of In patients with radiolog... | ## Diagnosis
X-linked acrogigantism
Accelerated growth velocity (>+2 SD) and/or abnormally tall stature (>+2 SD, adjusted for parental height). Note: When available, country-specific growth curves should be employed.
Other frequently observed clinical features of GH excess: acral enlargement, coarse facial feature... | [
"A Beckers, MB Lodish, G Trivellin, L Rostomyan, M Lee, FR Faucz, B Yuan, CS Choong, JH Caberg, E Verrua, LA Naves, TD Cheetham, J Young, PA Lysy, P Petrossians, A Cotterill, NS Shah, D Metzger, E Castermans, MR Ambrosio, C Villa, N Strebkova, N Mazerkina, S Gaillard, GB Barra, LA Casulari, SJ Neggers, R Salvatori,... | 1/2/2018 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
x-ald | x-ald | [
"X-ALD",
"X-ALD",
"Adrenomyeloneuropathy (AMN)",
"Childhood Cerebral Adrenoleukodystrophy (cCALD)",
"Primary Adrenocortical Insufficiency (Addison Disease)",
"ATP-binding cassette sub-family D member 1",
"ABCD1",
"X-Linked Adrenoleukodystrophy"
] | X-Linked Adrenoleukodystrophy | Gerald V Raymond, Ann B Moser, Ali Fatemi | Summary X-linked adrenoleukodystrophy (X-ALD) involves the central or peripheral nervous system and the adrenal cortex. The nervous system and adrenal glands are involved independently; thus, an affected male may be diagnosed with cerebral adrenoleukodystrophy (CALD), adrenomyeloneuropathy (AMN), and/or primary adrenoc... | X-Linked Adrenoleukodystrophy: Included Clinical Scenarios and Key Management Issues
A pediatric endocrinologist for screening for primary adrenocortical insufficiency to prevent life-threatening complications of adrenal insufficiency;
A neurologist or biochemical geneticist to develop a plan to monitor neurologic & ... | [] | 26/3/1999 | 6/4/2023 | 15/8/2002 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
x-dcdp | x-dcdp | [
"CDPX2",
"Conradi-Hünermann Syndrome",
"Happle Syndrome",
"Conradi-Hunermann Syndrome",
"Happle Syndrome",
"3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase",
"EBP",
"Chondrodysplasia Punctata 2, X-Linked"
] | Chondrodysplasia Punctata 2, X-Linked | Smitha Kumble, Ravi Savarirayan | Summary The findings in X-linked chondrodysplasia punctata 2 (CDPX2) range from fetal demise with multiple malformations and severe growth retardation to much milder manifestations, including females with no recognizable physical abnormalities. At least 95% of live-born individuals with CDPX2 are female. Characteristic... | ## Diagnosis
X-linked chondrodysplasia punctata 2 (CDPX2) is a skeletal dysplasia that also affects the skin and eyes. Specific diagnostic criteria for CDPX2 have not been published. Classic CDPX2 occurs almost exclusively in females. There are reports of affected males with an XXY karyotype [
CDPX2
Growth deficienc... | [] | 31/5/2011 | 9/1/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
x-hed | x-hed | [
"Anhidrotic Ectodermal Dysplasia",
"Christ-Siemens-Touraine Syndrome",
"Anhidrotic Ectodermal Dysplasia",
"Christ-Siemens-Touraine Syndrome",
"Mild Hypohidrotic Ectodermal Dysplasia",
"Classic Hypohidrotic Ectodermal Dysplasia",
"Ectodysplasin-A",
"Ectodysplasin-A receptor-associated adapter protein",... | Hypohidrotic Ectodermal Dysplasia | J Timothy Wright, Dorothy K Grange, Mary Fete | Summary Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). The cardinal features of classic HED become obvious during childhood. The scalp hair is thin, lightly pigmented, a... | Classic hypohidrotic ectodermal dysplasia
Mild hypohidrotic ectodermal dysplasia
For synonyms and outdated names see
• Classic hypohidrotic ectodermal dysplasia
• Mild hypohidrotic ectodermal dysplasia
## Diagnosis
No guidelines regarding diagnostic criteria for hypohidrotic ectodermal dysplasia (HED) have been d... | [] | 28/4/2003 | 27/10/2022 | 20/3/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
x-lpd | x-lpd | [
"E3 ubiquitin-protein ligase XIAP",
"SH2 domain-containing protein 1A",
"SH2D1A",
"XIAP",
"X-Linked Lymphoproliferative Disease"
] | X-Linked Lymphoproliferative Disease | Lauren Meyer, Melissa Hines, Kejian Zhang, Kim E Nichols | Summary X-linked lymphoproliferative disease (XLP) in general is characterized by an inappropriate immune response to Epstein-Barr virus (EBV) infection leading to hemophagocytic lymphohistiocytosis (HLH) or severe mononucleosis, dysgammaglobulinemia, and lymphoproliferative disease (malignant lymphoma). The condition ... | ## Diagnosis
For the purposes of this
No consensus clinical diagnostic criteria for X-linked lymphoproliferative disease (XLP) have been published. XLP has traditionally been separated into two recognizable subtypes: XLP1, due to pathogenic variants in
XLP
Lymphoma, most often B-cell non-Hodgkin lymphoma of the B... | [] | 27/2/2004 | 16/5/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
x-oa | x-oa | [
"Nettleship-Falls Ocular Albinism",
"OA1",
"Ocular Albinism Type 1",
"XLOA",
"Nettleship-Falls Ocular Albinism",
"OA1",
"Ocular Albinism Type 1",
"XLOA",
"G-protein coupled receptor 143",
"GPR143",
"Ocular Albinism, X-Linked"
] | Ocular Albinism, X-Linked – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY | Richard Alan Lewis | Summary X-linked ocular albinism (XLOA) is a disorder of melanosome biogenesis leading to minor cutaneous and adnexal manifestations and congenital and persistent visual impairment in affected males. XLOA is characterized by infantile nystagmus, reduced visual acuity, hypopigmentation of the iris pigment epithelium an... | ## Diagnosis
X-linked ocular albinism (XLOA)
Nystagmus amplitude and/or frequency often varies with horizontal gaze position. The gaze position in which the nystagmus is least severe is known as the null point. At the null point, the decrease in ocular oscillations reduces retinal image motion and thereby maximizes v... | [
"MT Bassi, AA Bergen, P Bitoun, SJ Charles, M Clementi, R Gosselin, J Hurst, RA Lewis, B Lorenz, T Meitinger, L Messiaen, RS Ramesar, A Ballabio, MV Schiaffino. Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America.. Hum Genet 2001;108:51-4",
"M... | 12/3/2004 | 19/11/2015 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
x-pvh | x-pvh | [
"Bilateral Periventricular Nodular Heterotopia (BPNH)",
"X-Linked Periventricular Heterotopia",
"Isolated X-Linked Cardiac Valvular Dysplasia",
"FLNA-Related Periventricular Nodular Heterotopia (FLNA-Related PVNH; Huttenlocher Syndrome)",
"FLNA-Related Isolated Gastrointestinal Manifestations",
"FLNA-Rela... | FLNA Deficiency | Ming Hui Chen, Christopher A Walsh | Summary FLNA deficiency is associated with a phenotypic spectrum that includes The diagnosis of FLNA deficiency is established in a proband by identification of a heterozygous FLNA deficiency is inherited in an X-linked manner. The condition is prenatally or neonatally lethal in most males; therefore, the majority of a... | Isolated X-linked cardiac valvular dysplasia
Isolated gastrointestinal manifestations
Isolated macrothrombocytopenia
For synonyms and outdated names see
For other genetic causes of these phenotypes, see
• Isolated X-linked cardiac valvular dysplasia
• Isolated gastrointestinal manifestations
• Isolated macrothro... | [] | 8/10/2002 | 30/9/2021 | 4/6/2009 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
x-scid | x-scid | [
"SCID-X1",
"X-Linked SCID (X-SCID)",
"SCID-X1",
"X-Linked SCID (X-SCID)",
"Typical X-SCID",
"Atypical X-SCID",
"Cytokine receptor common subunit gamma",
"IL2RG",
"X-Linked Severe Combined Immunodeficiency"
] | X-Linked Severe Combined Immunodeficiency | Eric J Allenspach, David J Rawlings, Aleksandra Petrovic, Karin Chen | Summary The phenotypic spectrum of X-linked severe combined immunodeficiency (X-SCID) ranges from typical X-SCID (early-onset disease in males that is fatal if not treated with hematopoietic stem cell transplantation [HSCT] or gene therapy) to atypical X-SCID (later-onset disease comprising phenotypes caused by variabl... | Typical X-SCID
Atypical X-SCID
For synonyms and outdated names see
For other genetic causes of severe combined immunodeficiency, see
• Typical X-SCID
• Atypical X-SCID
## Diagnosis
The Primary Immune Deficiency Treatment Consortium (PIDTC) has established laboratory-based definitions for SCID [
There are two sc... | [] | 26/8/2003 | 5/8/2021 | 30/7/2015 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
xdp | xdp | [
"DYT3",
"DYT-TAF1",
"Lubag",
"DYT3",
"Lubag",
"DYT-TAF1",
"Transcription initiation factor TFIID subunit 1",
"TAF1",
"X-Linked Dystonia-Parkinsonism"
] | X-Linked Dystonia-Parkinsonism | Virgilio Gerald H Evidente | Summary Individuals with X-linked dystonia-parkinsonism (XDP) have dystonia of varying severity and parkinsonism. XDP afflicts primarily Filipino men and, rarely, women. The mean age of onset in men is 39 years; the clinical course is highly variable with parkinsonism as the initial presenting sign, overshadowed by dys... | ## Diagnosis
The diagnosis of X-linked dystonia-parkinsonism (XDP)
Dystonia of varying severity, ranging from focal to generalized typically starting in early adulthood
Parkinsonism
Family history consistent with X-linked inheritance
Maternal ancestral roots from the Panay Islands in the Philippines where XDP or... | [
"JA Aguilar, TS Vesagas, RD Jamora, RA Teleg, L Ledesma, RL Rosales, HH Fernandez, HV Lee. The promise of deep brain stimulation in X-linked dystonia parkinsonism.. Int J Neurosci 2011;121:57-63",
"DC Bragg, K Mangkalaphiban, CA Vaine, NJ Kulkarni, D Shin, R Yadav, J Dhakal, ML Ton, A Cheng, CT Russo, M Ang, P Ac... | 13/12/2005 | 15/2/2018 | 22/6/2010 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
xia-gibbs | xia-gibbs | [
"Transcription factor Gibbin",
"AHDC1",
"Xia-Gibbs Syndrome"
] | Xia-Gibbs Syndrome | Varuna Chander, Michael Wangler, Richard Gibbs, David Murdock | Summary The main features of Xia-Gibbs syndrome (XGS), present in a majority of affected individuals, include delayed motor milestones, speech delay with severely limited or absent speech, moderate-to-severe cognitive impairment, hypotonia, structural brain anomalies, and nonspecific dysmorphic features. Other features... | ## Diagnosis
No consensus clinical diagnostic criteria for Xia-Gibbs syndrome (XGS) have been published.
XGS
Neurologic issues, including:
Generalized hypotonia of infancy
Epilepsy
Ataxia
Nystagmus
Developmental issues, including:
Delayed motor milestones
Speech delay
Autism spectrum disorder (ASD)
Respirat... | [
"AC Cardoso-Dos-Santos, T Oliveira Silva, A Silveira Faccini, T Woycinck Kowalski, A Bertoli-Avella, JA Morales Saute, L Schuler-Faccini, F de Oliveira Poswar. Novel AHDC1 gene mutation in a Brazilian individual: implications of Xia-Gibbs syndrome.. Mol Syndromol. 2020;11:24-9",
"X Cheng, F Tang, X Hu, H Li, M Li... | 9/12/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
xl-nystag | xl-nystag | [
"NYS1",
"X-Linked Idiopathic Infantile Nystagmus",
"NYS1",
"X-Linked Idiopathic Infantile Nystagmus",
"FERM domain-containing protein 7",
"FRMD7",
"FRMD7-Related Infantile Nystagmus"
] | Mervyn G Thomas, Gail Maconachie, Michael Hisaund, Irene Gottlob | Summary The diagnosis is based on clinical findings (including, when possible, ocular motility recordings). Identification of a hemizygous (in a male proband) or heterozygous (in a female proband) pathogenic variant in FIN is inherited in an X-linked manner. Affected males transmit the pathogenic variant to all of thei... | ## Diagnosis
Currently there are no formal diagnostic clinical criteria for
The diagnosis of
Onset of nystagmus during infancy (age ≤6 months)
Horizontal and conjugate nystagmus oscillations
Visual acuity that is typically better than 0.3 LogMAR (Snellen equivalent 6/12)
Good binocular vision and normal color v... | [
"B AlMoallem, M Bauwens, S Walraedt, P Delbeke, J De Zaeytijd, P Kestelyn, F Meire, S Janssens, C van Cauwenbergh, H Verdin, S Hooghe, P Kumar Thakur, F Coppieters, K De Leeneer, K Devriendt, BP Leroy, E De Baere. Novel FRMD7 mutations and genomic rearrangement expand the molecular pathogenesis of X-linked idiopath... | 12/2/2009 | 16/8/2018 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
xla | xla | [
"Bruton's Agammaglobulinemia",
"BTK Deficiency",
"XLA",
"Bruton's Agammaglobulinemia",
"XLA",
"BTK Deficiency",
"Tyrosine-protein kinase BTK",
"BTK",
"X-Linked Agammaglobulinemia"
] | X-Linked Agammaglobulinemia | CI Edvard Smith, Anna Berglöf | Summary X-linked agammaglobulinemia (XLA) is characterized by recurrent bacterial infections in affected males in the first two years of life. Recurrent otitis is the most common infection prior to diagnosis. Conjunctivitis, sinopulmonary infections, diarrhea, and skin infections are also frequently seen. Approximately... | ## Diagnosis
X-linked agammaglobulinemia (XLA)
Recurrent otitis, pneumonitis, sinusitis, and conjunctivitis starting before age five years
A severe life-threatening bacterial infection such as sepsis, meningitis, cellulitis, or empyema
Paucity of lymphoid tissue (small adenoids, tonsils, and lymph nodes on physic... | [] | 5/4/2001 | 27/6/2024 | 4/11/2004 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
xlhi | xlhi | [
"HIGM1",
"X-Linked Hyper-IgM Immunodeficiency (XHIGM)",
"HIGM1",
"X-Linked Hyper-IgM Immunodeficiency (XHIGM)",
"CD40 ligand",
"CD40LG",
"X-Linked Hyper IgM Syndrome"
] | X-Linked Hyper IgM Syndrome | Clinton P Dunn, M Teresa de la Morena | Summary X-linked hyper IgM syndrome (HIGM1), a disorder of abnormal T- and B-cell function, is characterized by low serum concentrations of IgG, IgA, and IgE with normal or elevated serum concentrations of IgM. Mitogen proliferation may be normal, but NK- and T-cell cytotoxicity can be impaired. Antigen-specific respon... | ## Diagnosis
X-linked hyper IgM syndrome (HIGM1)
Absent or low serum concentrations of IgG and IgA
Normal or elevated serum concentrations of IgM
Normal:
Number and distribution of T, B, and NK lymphocyte subsets
T-cell proliferation in response to mitogens
Decreased expression of CD40L on the surface of activat... | [
"JK Abbott, EW Gelfand. Common variable immunodeficiency: diagnosis, management, and treatment.. Immunol Allergy Clin North Am. 2015;35:637-58",
"K Agematsu, H Nagumo, K Shinozaki, S Hokibara, K Yasui, K Terada, N Kawamura, T Toba, S Nonoyama, HD Ochs, A Komiyama. Absence of IgD-CD27 (+) memory B cell population ... | 31/5/2007 | 20/2/2020 | 24/1/2013 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
xlmr | xlmr | [
"ATR-X Syndrome",
"ATR-X Syndrome",
"Transcriptional regulator ATRX",
"ATRX",
"Alpha-Thalassemia X-Linked Intellectual Disability Syndrome"
] | Alpha-Thalassemia X-Linked Intellectual Disability Syndrome | Roger E Stevenson | Summary Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome is characterized by distinctive craniofacial features, genital anomalies, hypotonia, and mild-to-profound developmental delay / intellectual disability (DD/ID). Craniofacial abnormalities include small head circumference, telecanthus or widely ... | ## Diagnosis
Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome
A recognizable pattern of craniofacial findings including small head circumference, upsweep of the frontal hair, telecanthus or widely spaced eyes, short triangular nose, tented upper lip, thick or everted lower lip, and open mouth. Ir... | [] | 19/6/2000 | 28/5/2020 | 13/8/2009 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
xp | xp | [
"DNA damage-binding protein 2",
"DNA excision repair protein ERCC-1",
"DNA excision repair protein ERCC-5",
"DNA polymerase eta",
"DNA repair endonuclease XPF",
"DNA repair protein complementing XP-A cells",
"DNA repair protein complementing XP-C cells",
"General transcription and DNA repair factor II... | Xeroderma Pigmentosum | Kenneth H Kraemer, John J DiGiovanna, Deborah Tamura | Summary Xeroderma pigmentosum (XP) is characterized by: Acute sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure) with marked freckle-like pigmentation of the face before age two years; Sunlight-induced ocular involvement (photophobia, severe keratitis, atrophy of the skin of t... | ## Diagnosis
XP
Acute sun sensitivity (severe sunburn with blistering or persistent erythema on minimal sun exposure)
Marked freckle-like pigmentation (lentigos) on the face before age two years
Skin cancer within the first decade of life
Photophobia with prominent conjunctival injection
Severe keratitis, s... | [
"S Moriwaki, F Kanda, M Hayashi, D Yamashita, Y Sakai, C Nishigori. Xeroderma pigmentosum clinical practice guidelines.. J Dermatol. 2017;44:1087-96"
] | 20/6/2003 | 24/3/2022 | 14/2/2013 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
xq28-dup | xq28-dup | [
"Chloride intracellular channel protein 2",
"Ras-related protein Rab-39B",
"CLIC2",
"RAB39B",
"Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated"
] | Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated | Rami A Ballout, Ayman W El-Hattab, Christian P Schaaf, Sau Wai Cheung | Summary The int22h1/int22h2-mediated Xq28 duplication syndrome is an X-linked intellectual disability syndrome characterized by variable degrees of cognitive impairment (typically more severe in males), a wide spectrum of neurobehavioral abnormalities, and variable facial dysmorphic features. Affected males also exhibi... | ## Diagnosis
The int22h1/int22h2-mediated Xq28 duplication syndrome
Mild-to-moderate intellectual disability, with or without mild-to-moderate neurodevelopmental delays
Any of the following features presenting in infancy or childhood:
Characteristic neurobehavioral profile consisting of aggression and irritability,... | [] | 10/3/2016 | 25/2/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
xxms | xxms | [
"46,XX Testicular DSD",
"46,XX Testicular DSD",
"SRY-Negative 46,XX Testicular Disorders/Differences of Sex Development",
"SRY-Positive 46,XX Testicular Disorders/Differences of Sex Development",
"Sex-determining region Y protein",
"Steroidogenic factor 1",
"Transcription factor SOX-3",
"Transcription... | Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Development | Emmanuèle C Délot, Eric J Vilain | Summary Nonsyndromic 46,XX testicular disorders/differences of sex development (DSD) are characterized by: the presence of a 46,XX karyotype; external genitalia ranging from typical male to ambiguous; two testicles; azoospermia; absence of müllerian structures; and absence of other syndromic features, such as congenita... | For synonyms and outdated names see
## Diagnosis
No consensus clinical diagnostic criteria for nonsyndromic 46,XX testicular disorders/differences of sex development (DSD) have been published. However, algorithms have been developed for the evaluation and diagnosis of DSD, including nonsyndromic 46,XX testicular DSD ... | [] | 30/10/2003 | 26/5/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
yars1-def | yars1-def | [
"Autosomal Recessive YARS1-Related Disorder",
"Tyrosyl-tRNA Synthetase 1 Deficiency (TyrRS 1 Deficiency)",
"Autosomal Recessive YARS1-Related Disorder",
"Tyrosyl-tRNA Synthetase Deficiency (TyrRS Deficiency)",
"Tyrosine--tRNA ligase, cytoplasmic",
"YARS1",
"YARS1 Deficiency"
] | YARS1 Deficiency | Luisa Averdunk, Hua Wang, Eva MM Hoytema van Konijnenburg, Sabine A Fuchs, Nadra Nasser Samra, Hanna Mandel, Anne Mei-Kwun Kwok | Summary YARS1 deficiency is characterized by developmental delay / intellectual disability, poor prenatal and postnatal growth, gastrointestinal (GI) involvement (feeding difficulties, recurrent vomiting, GI bleeding, chronic diarrhea, pancreatic insufficiency), liver involvement (increased transaminases, cholestasis, ... | ## Diagnosis
No consensus diagnostic criteria for YARS1 deficiency have been published.
YARS1 deficiency
Intrauterine growth restriction (z score = −2.95 to −1.95)
Poor postnatal linear growth and weight gain
Developmental delay or intellectual disability of variable degree
Hypotonia with impaired gross motor... | [] | 3/7/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
yci | yci | [
"Y Chromosome-Related Azoospermia",
"Y Chromosome-Related Azoospermia",
"ATP-dependent RNA helicase DDX3Y",
"Not applicable",
"Ubiquitin carboxyl-terminal hydrolase 9Y",
"DDX3Y",
"Not applicable",
"USP9Y",
"Y Chromosome Infertility"
] | Y Chromosome Infertility | Yuting Fan, Sherman J Silber | Summary Y chromosome infertility is characterized by azoospermia (absence of sperm), severe oligozoospermia (<1 x 10 The diagnosis of Y chromosome infertility is established in a male with characteristic clinical and laboratory features and by identification of a hemizygous deletion of Yq involving the AZF regions or i... | ## Diagnosis
Y chromosome infertility
A history of infertility
Normal physical examination in ~30%
Small testes in ~70% (males with Sertoli cell-only syndrome)
Classification of Sperm Count
In each category, the morphology and/or motility of the sperm can be normal or abnormal (asthenoteratozoospermia).
Thes... | [
"E Bosch, MA Jobling. Duplications of the AZFa region of the human Y chromosome are mediated by homologous recombination between HERVs and are compatible with male fertility.. Hum Mol Genet. 2003;12:341-7",
"PL Chang, MV Sauer, S Brown. Y chromosome microdeletion in a father and his four infertile sons.. Hum Repr... | 31/10/2002 | 1/8/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
yif1b-ndd | yif1b-ndd | [
"Kaya-Barakat-Masson Syndrome (KABAMAS)",
"Kaya-Barakat-Masson Syndrome (KABAMAS)",
"Protein YIF1B",
"YIF1B",
"YIF1B-Related Neurodevelopmental Disorder"
] | Eva Medico-Salsench, Namik Kaya, Tahsin Stefan Barakat | Summary The diagnosis of | ## Diagnosis
Severe-to-profound developmental delay; most individuals do not obtain any developmental milestones.
Severe-to-profound intellectual disability, with no speech development or limited speech with subsequent regression
Generalized axial hypotonia of infancy and concurrent peripheral hypertonia
Infant f... | [] | 12/9/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
zap70-scid | zap70-scid | [
"Tyrosine-protein kinase ZAP-70",
"ZAP70",
"ZAP70-Related Combined Immunodeficiency"
] | Kelly Walkovich, Mark Vander Lugt | Summary The diagnosis of | ## Diagnosis
Recurrent viral, bacterial, and opportunistic infections
Chronic diarrhea and failure to thrive
Characteristic results of lymphocyte subset analysis of CD3, CD4, and CD8 T cells, lymphocyte functional testing, and ZAP-70 protein expression (See
Note: Individuals with non-classic
Thymic architecture is... | [
"O Adjali, G Marodon, M Steinberg, C Mongellaz, V Thomas-Vaslin, C Jacquet, N Taylor, D Klatzmann. In vivo correction of ZAP-70 immunodeficiency by intrathymic gene transfer.. J Clin Invest. 2005;115:2287-95",
"HH Akar, T Patiroglu, BN Akyildiz, NU Tekerek, MS Doğan, S Doğanay, M van der Burg, R Dusunsel. Silent ... | 20/10/2009 | 8/6/2017 | 23/9/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
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