Usher syndrome, type iiia

Preferred Label : Usher syndrome, type iiia;

Symbol : USH3A;

CISMeF acronym : USH3A; USH3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : USH3; Usher syndrome, type III;

Description : Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life (Karjalainen et al., 1985; Pakarinen et al., 1995). For a discussion of phenotypic heterogeneity of Usher syndrome, see USH1 (276900). - Usher syndrome type IIIB ({614504}) is caused by mutation in the HARS gene (142810) on chromosome 5q31.3.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the USH3A gene (USH3A, 606397.0001);

Prefixed ID : #276902;

Details

Origin ID

276902;

UMLS CUI

C5779850;

Automatic exact mappings (from CISMeF team)
- Usher syndrome type 3 [DO Concept]
- Usher syndrome type 3 [ORDO Disease]
- Usher syndrome type 3A [DO Concept]
- usher syndrome, type III [MeSH concept]
- usher syndromes [MeSH Descriptor]
Broader ORDO disease(s)
- Usher syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Usher syndrome type IIIa [Disease (Nov.)]
DO Cross reference
- Usher syndrome type 3A [DO Concept]
Genes related to phenotype
- Clarin 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Nyctalopia [HPO term]
- Reduced visual acuity [HPO term]
- Rod-cone dystrophy [HPO term]
- Sensorineural hearing impairment [HPO term]
- Vestibular dysfunction [HPO term]
- Vestibular dysfunction, variable [HPO term]
- Visual field defect [HPO term]
ORDO concept(s)
- Usher syndrome [ORDO Disease]
- Usher syndrome type 3 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Retinitis pigmentosa-deafness syndrome type 3 (disorder) [SNOMED CT concept]
- Usher Syndrome Type 3 [NCIt concept]
- Usher syndrome type 3 [ORDO Disease]
- Usher syndrome type 3 [DO Concept]
- Usher syndrome type III [Disease (Nov.)]
- Usher syndrome type IIIa [Disease (Nov.)]
- retinitis pigmentosa-deafness syndrome [DO Concept]
- usher syndrome, type III [MeSH concept]
Validated automatic mappings to NTBT
- Usher Syndrome Type 3 [NCIt concept]
- Usher syndrome type III [Disease (Nov.)]

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