WS4A
MCID: WRD020
MIFTS: 48
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Waardenburg Syndrome, Type 4a (WS4A)
Categories:
Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Waardenburg Syndrome, Type 4a:
Characteristics:Orphanet epidemiological data:58
waardenburg-shah syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy; OMIM:56
Inheritance:
autosomal recessive autosomal dominant
Miscellaneous:
genetic heterogeneity variable severity, intrafamilial incomplete penetance of some features both homozygous and heterozygous ednrb mutations have been found HPO:31
waardenburg syndrome, type 4a:
Inheritance autosomal dominant inheritance autosomal recessive inheritance heterogeneous Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Gastrointestinal diseases Ear diseases Skin diseases Eye diseases
ICD10:
33
Orphanet: 58
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OMIM :
56
Waardenburg syndrome type 4 (WS4), also known as Waardenburg-Shah syndrome, is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 4A is caused by mutation in the EDNRB gene (131244).
(277580)
MalaCards based summary : Waardenburg Syndrome, Type 4a, also known as waardenburg syndrome type 4a, is related to waardenburg syndrome type 4 and waardenburg syndrome, type 2b. An important gene associated with Waardenburg Syndrome, Type 4a is EDNRB (Endothelin Receptor Type B), and among its related pathways/superpathways are Neural Crest Differentiation and Melanocyte Development and Pigmentation. Affiliated tissues include skin, eye and colon, and related phenotypes are hearing impairment and premature graying of hair Disease Ontology : 12 A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has material basis in heterozygous or homozygous mutation in the EDNRB gene on chromosome 13q22. UniProtKB/Swiss-Prot : 73 Waardenburg syndrome 4A: A disorder characterized by the association of Waardenburg features (depigmentation and deafness) with the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease). |
Human phenotypes related to Waardenburg Syndrome, Type 4a:58 31 (show all 34)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:277580MGI Mouse Phenotypes related to Waardenburg Syndrome, Type 4a:45
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MalaCards organs/tissues related to Waardenburg Syndrome, Type 4a:40
Skin,
Eye,
Colon
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Articles related to Waardenburg Syndrome, Type 4a:(show top 50) (show all 58)
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ClinVar genetic disease variations for Waardenburg Syndrome, Type 4a:6 (show all 15)
UniProtKB/Swiss-Prot genetic disease variations for Waardenburg Syndrome, Type 4a:73
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Search
GEO
for disease gene expression data for Waardenburg Syndrome, Type 4a.
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Biological processes related to Waardenburg Syndrome, Type 4a according to GeneCards Suite gene sharing:
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