" /> Waardenburg syndrome, type 4b - CISMeF





Preferred Label : Waardenburg syndrome, type 4b;

Symbol : WS4B;

CISMeF acronym : WS4B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Waardenburg syndrome, type ivb; Waardenburg syndrome, type 4b, with hirschsprung disease;

Description : Waardenburg syndrome type 4 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the eye, deafness, and Hirschsprung disease (review by Read and Newton, 1997). WS type 4B is caused by mutation in the EDN3 gene (131242). WS type 4 is genetically heterogeneous (see WS4A; 277580). For a description of other clinical variants of Waardenburg syndrome, see WS1 (193500), WS2 (193510), and WS3 (148820).;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the endothelin-3 gene (EDN3, 131242.0001);

Prefixed ID : #613265;

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27/07/2025


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