Waardenburg syndrome, type 4c

Preferred Label : Waardenburg syndrome, type 4c;

Symbol : WS4C;

CISMeF acronym : WS4C;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Waardenburg syndrome, type ivc; Waardenburg syndrome with hirschsprung disease, type 4c;

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 4C is caused by mutation in the SOX10 gene (602229). 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;

Molecular basis : Caused by mutation in the SRY-box-10 gene (SOX10, 602229.0001);

Prefixed ID : #613266;

Details

Origin ID

613266;

UMLS CUI

C2750452;

Automatic exact mappings (from CISMeF team)
- SOX10 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Waardenburg syndrome type 4C [DO Concept]
- waardenburg syndrome, type 4c [MeSH concept]
- waardenburg syndrome, type 4c [MeSH Supplementary Concept]
DO Cross reference
- Waardenburg syndrome type 4C [DO Concept]
Genes related to phenotype
- Sry-box 10 [OMIM gene]
HPO term(s)
- Aganglionic megacolon [HPO term]
- Anosmia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blue irides [HPO term]
- Cryptorchidism [HPO term]
- Decreased myenteric and submucosal ganglia in the bowel [HPO term]
- Heterochromia iridis [HPO term]
- Heterogeneous [HPO term]
- Hypogonadism [HPO term]
- Hypopigmented skin patches [HPO term]
- Lacrimal gland hypoplasia [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 4C [DO Concept]
- waardenburg syndrome, type 4c [MeSH Supplementary Concept]
- waardenburg syndrome, type 4c [MeSH concept]

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