Waardenburg syndrome, type 2e

Preferred Label : Waardenburg syndrome, type 2e;

Symbol : WS2E;

CISMeF acronym : WS2E;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Waardenburg syndrome, type iie; Waardenburg syndrome, type 2e, with or without neurologic involvement; Ws2e, with or without neurologic involvement; Hypogonadotropic hypogonadism with anosmia and deafness, with or without hypopigmentation;

Description : Waardenburg syndrome type 2 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS (review by Read and Newton, 1997). Individuals with WS type 2E, which is caused by mutation in the SOX10 gene (602229), may have neurologic abnormalities, including mental impairment, myelination defects, and ataxia. Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A; 193510). For a description of other clinical variants of Waardenburg syndrome, see WS1 (193500), WS3 (148820), and WS4 (277580).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the SRY-box-10 gene (SOX10, 602229.0005);

Prefixed ID : #611584;

Details

Origin ID

611584;

UMLS CUI

C2700405;

Automatic exact mappings (from CISMeF team)
- SOX10 wt Allele [NCIt concept]
- SRY-box transcription factor 10 [ORDO Gene]
- SRY-box transcription factor 10 [HGNC gene]
- waardenburg syndrome type 2 [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Waardenburg syndrome type 2E [DO Concept]
- waardenburg syndrome, type 2E [MeSH concept]
DO Cross reference
- Waardenburg syndrome type 2E [DO Concept]
Genes related to phenotype
- Sry-box 10 [OMIM gene]
HPO term(s)
- Anosmia [HPO term]
- Aplasia of the semicircular canal [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blue irides [HPO term]
- Cafe-au-lait spot [HPO term]
- Cerebral hypomyelination [HPO term]
- Dilated vestibule of the inner ear [HPO term]
- Global developmental delay [HPO term]
- Heterochromia iridis [HPO term]
- Heterogeneous [HPO term]
- Hypertonia [HPO term]
- Hypopigmentation of the fundus [HPO term]
- Hypopigmented skin patches [HPO term]
- Hypoplasia of the iris [HPO term]
- Hypoplasia of the semicircular canal [HPO term]
- Intellectual disability [HPO term]
- Morphological abnormality of the vestibule of the inner ear [HPO term]
- Nystagmus [HPO term]
- Ocular albinism [HPO term]
- Pectus excavatum [HPO term]
- Premature graying of hair [HPO term]
- Retinal hypopigmentation [HPO term]
- Sensorineural hearing impairment [HPO term]
- Vascular dilatation [HPO term]
- White eyebrow [HPO term]
- White eyelashes [HPO term]
- White forelock [HPO term]
ORDO concept(s)
- Waardenburg syndrome [ORDO Disease]
- Waardenburg syndrome type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Waardenburg syndrome type 2E [DO Concept]
- waardenburg syndrome, type 2E [MeSH concept]

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