Waardenburg syndrome, type 4a

Preferred Label : Waardenburg syndrome, type 4a;

Symbol : WS4A;

CISMeF acronym : WS4A; WS4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Waardenburg-shah syndrome; Shah-waardenburg syndrome; Waardenburg syndrome, type iva; WS4; Waardenburg syndrome with hirschsprung disease, type 4a;

Description : 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;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the endothelin receptor, type B gene (EDNRB, 131244.0001);

Prefixed ID : #277580;

Details

Origin ID

277580;

UMLS CUI

C1848519;

Automatic exact mappings (from CISMeF team)
- EDNRB wt Allele [NCIt concept]
- SOX10 wt Allele [NCIt concept]
- SRY-box transcription factor 10 [ORDO Gene]
Currated CISMeF NLP mapping
- Waardenburg Shah syndrome [Disease (Nov.)]
- Waardenburg Shah syndrome (disorder) [SNOMED CT concept]
- Waardenburg Syndrome Type 4 [NCIt concept]
- Waardenburg syndrome type 4A [DO Concept]
- Waardenburg syndrome, type 4 [MeSH concept]
- Waardenburg-Shah syndrome [ICD-11 Subcategory]
- Waardenburg-Shah syndrome [ORDO Disease]
- waardenburg syndrome, type 4 [MeSH Supplementary Concept]
DO Cross reference
- Waardenburg syndrome type 4A [DO Concept]
Genes related to phenotype
- Endothelin receptor, type b [OMIM gene]
HPO term(s)
- Aganglionic megacolon [HPO term]
- Ataxia [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]
- Global developmental delay [HPO term]
- Heterochromia iridis [HPO term]
- Heterogeneous [HPO term]
- Hypopigmented skin patches [HPO term]
- Hypotonia [HPO term]
- Leukodystrophy [HPO term]
- Nystagmus [HPO term]
- Polyneuropathy [HPO term]
- Premature graying of hair [HPO term]
- Sensorineural hearing impairment [HPO term]
- Spastic paraparesis [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 Shah syndrome [Disease (Nov.)]
- Waardenburg Shah syndrome (disorder) [SNOMED CT concept]
- Waardenburg Syndrome Type 4 [NCIt concept]
- Waardenburg syndrome type 4A [DO Concept]
- Waardenburg syndrome, type 4 [MeSH concept]
- Waardenburg-Shah syndrome [ORDO Disease]
- waardenburg syndrome, type 4 [MeSH Supplementary Concept]

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