Deafness, autosomal recessive 1a

Preferred Label : Deafness, autosomal recessive 1a;

Symbol : DFNB1A;

CISMeF acronym : DFNB1A;

Type : Phenotype, molecular basis known;

Included titles and symbols : Deafness, digenic, gjb2/gjb6; Deafness, digenic, gjb2/gjb3;

Inheritance : Autosomal recessive; Digenic dominant (see MISCELLANEOUS);

Molecular basis : Caused by mutation in the gap junction protein, beta-2 gene (GJB2, 121011.0002); Caused by simultaneous mutation in both the gap junction protein, beta-2 gene (GJB2, 121011.0014) and the gap junction protein, beta-3 gene (GJB3, 603324.0011); Caused by simultaneous mutation in both the gap junction protein, beta-2 gene (GJB2, 121011.0005) and the gap junction protein, beta-6 gene (GJB6, 604418.0004);

Prefixed ID : #220290;

Details

Origin ID

220290;

UMLS CUI

C2673759;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
Broader ORDO disease(s)
- Non-syndromic genetic deafness [ORDO Disease]
Currated CISMeF NLP mapping
- Deafness, Autosomal Recessive 1A [NCIt concept]
- autosomal recessive nonsyndromic deafness 1A [DO Concept]
- deafness, autosomal recessive 1A [MeSH concept]
- deafness, autosomal recessive 1A [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 1A [DO Concept]
Genes related to phenotype
- Gap junction protein, beta-2 [OMIM gene]
- Gap junction protein, beta-3 [OMIM gene]
- Gap junction protein, beta-6 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Digenic inheritance [HPO term]
- Sensorineural hearing impairment [HPO term]
- Vestibular dysfunction [HPO term]
ORDO concept(s)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
See also inter- (CISMeF)
- GJB2 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deafness, Autosomal Recessive 1A [NCIt concept]
- autosomal recessive nonsyndromic deafness 1A [DO Concept]
- deafness, autosomal recessive 1A [MeSH Supplementary Concept]
- deafness, autosomal recessive 1A [MeSH concept]

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