Usher syndrome, type iia

Preferred Label : Usher syndrome, type iia;

Symbol : USH2A;

CISMeF acronym : USH2A;

Type : Phenotype, molecular basis known;

Description : Usher syndrome is a clinically and genetically heterogeneous autosomal recessive disorder characterized by sensorineural hearing deficiencies at birth and later development of progressive retinitis pigmentosa (RP). It is the most frequent cause of combined deafness and blindness in adults and affects 3 to 6% of children born with hearing impairment. In brief, patients with Usher syndrome type II have mild hearing impairment with normal vestibular responses. Type II is the most common of the 3 Usher syndromes (Eudy et al., 1998). See 276900 for clinical characterization of Usher syndrome types I, II, and III. - Genetic Heterogeneity of Usher Syndrome Type II Usher syndrome type II is genetically heterogeneous. USH2C (605472) can be caused by mutation in the GPR98 gene (602851) or by biallelic digenic mutation in the GPR98 and PDZD7 (612791) genes. USH2D (611383) is caused by mutation in the WHRN gene (607928). The locus designation USH2B has been withdrawn; see HISTORY.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the usherin gene (USH2A, 608400.0001).;

Prefixed ID : #276901;

Détails

Origin ID

276901;

UMLS CUI

C1848634;

Broader ORDO disease(s)
- Usher syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Usher syndrome type 2A [DO Concept]
- Usher syndrome type IIa [Disease (Nov.)]
- Usher syndrome, type 2A [MeSH concept]
- usher syndrome, type 2A [MeSH Supplementary Concept]
DO Cross reference
- Usher syndrome type 2A [DO Concept]
Genes related to phenotype
- Pdz domain-containing 7 [OMIM gene]
- Usherin [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital sensorineural hearing impairment [HPO term]
- Progressive retinitis pigmentosa [HPO term]
- Rod-cone dystrophy [HPO term]
ORDO concept(s)
- Usher syndrome [ORDO Disease]
- Usher syndrome type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Usher syndrome type 2A [DO Concept]
- Usher syndrome type IIa [Disease (Nov.)]
- Usher syndrome, type 2A [MeSH concept]
- usher syndrome, type 2A [MeSH Supplementary Concept]

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