Waardenburg syndrome, type 4b

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;

Details

Origin ID

613265;

UMLS CUI

C2750457;

Automatic exact mappings (from CISMeF team)
- EDN3 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Waardenburg syndrome type 4B [DO Concept]
- waardenburg syndrome, type 4b [MeSH concept]
- waardenburg syndrome, type 4b [MeSH Supplementary Concept]
DO Cross reference
- Waardenburg syndrome type 4B [DO Concept]
Genes related to phenotype
- Endothelin 3 [OMIM gene]
HPO term(s)
- Aganglionic megacolon [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blue irides [HPO term]
- Decreased myenteric and submucosal ganglia in the bowel [HPO term]
- Heterochromia iridis [HPO term]
- Heterogeneous [HPO term]
- Hypopigmented skin patches [HPO term]
- Premature graying of hair [HPO term]
- Sensorineural hearing impairment [HPO term]
- White eyebrow [HPO term]
- White eyelashes [HPO term]
- White forelock [HPO term]
ORDO concept(s)
- Waardenburg-Shah syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Waardenburg syndrome type 4B [DO Concept]
- waardenburg syndrome, type 4b [MeSH Supplementary Concept]
- waardenburg syndrome, type 4b [MeSH concept]

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