Usher syndrome, type ic

Preferred Label : Usher syndrome, type ic;

Symbol : USH1C;

CISMeF acronym : USH1C;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Usher syndrome, type I, acadian variety;

Description : Usher syndrome constitutes a group of autosomal recessive disorders characterized by progressive pigmentary retinopathy and sensorineural hearing loss. Phenotypic distinctions are based on auditory and vestibular differences. Persons with forms of Usher syndrome type I (see 276900) have congenital severe to profound hearing loss and vestibular dysfunction.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the USH1 protein network component harmonin gene (USH1C, 605242.0001);

Prefixed ID : #276904;

Details

Origin ID

276904;

UMLS CUI

C1848604;

Broader ORDO disease(s)
- Usher syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Usher syndrome type 1C [DO Concept]
- Usher syndrome type Ic [Disease (Nov.)]
- Usher syndrome, type 1C [MeSH concept]
- usher syndrome, type 1C [MeSH Supplementary Concept]
- usher syndrome, type IC [MeSH concept]
- usher syndrome, type IC [MeSH Supplementary Concept]
DO Cross reference
- Usher syndrome type 1C [DO Concept]
Genes related to phenotype
- Ush1 protein network component harmonin [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Congenital sensorineural deafness [HPO term]
- Congenital sensorineural hearing impairment [HPO term]
- Progressive retinitis pigmentosa [HPO term]
- Rod-cone dystrophy [HPO term]
- Vestibular hypofunction [HPO term]
ORDO concept(s)
- Usher syndrome [ORDO Disease]
- Usher syndrome type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Usher syndrome type Ic [Disease (Nov.)]
- usher syndrome, type IC [MeSH Supplementary Concept]
- usher syndrome, type IC [MeSH concept]

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