Auditory neuropathy, autosomal dominant 1

Preferred Label : Auditory neuropathy, autosomal dominant 1;

Symbol : AUNA1;

CISMeF acronym : AUNA1; NSDAN;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Auditory neuropathy, nonsyndromic dominant; NSDAN;

Description : Auditory neuropathy is a type of hearing loss defined by the preservation of cochlear outer hair cell function and abnormal or absent auditory brainstem responses. Auditory neuropathy may accompany peripheral neuropathy in a variety of dominant syndromes such as Charcot-Marie-Tooth disease (Satya-Murti et al., 1979) and has been observed in Friedreich ataxia (Satya-Murti et al., 1980). Auditory neuropathy unassociated with peripheral neuropathy most commonly occurs as a sporadic or recessive trait; see, for example, 601071.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the diaphanous-related formin 3 gene (DIAPH3, 614567.0001);

Prefixed ID : #609129;

Details

Origin ID

609129;

UMLS CUI

C1836743;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant non-syndromic sensorineural deafness type DFNA [ORDO Disease]
Currated CISMeF NLP mapping
- auditory neuropathy, autosomal dominant, 1 [MeSH concept]
- auditory neuropathy, autosomal dominant, 1 [MeSH Supplementary Concept]
- autosomal dominant auditory neuropathy 1 [DO Concept]
DO Cross reference
- autosomal dominant auditory neuropathy 1 [DO Concept]
Genes related to phenotype
- Diaphanous-related formin 3 [OMIM gene]
HPO term(s)
- Abnormal auditory evoked potentials [HPO term]
- Abnormal speech discrimination [HPO term]
- Absence of acoustic reflex [HPO term]
- Autosomal dominant inheritance [HPO term]
- Deafness [HPO term]
- Juvenile onset [HPO term]
- Sensorineural hearing impairment [HPO term]
- Young adult onset [HPO term]
- abnormal or absent auditory nerve and brainstem responses [HPO term]
ORDO concept(s)
- Autosomal dominant non-syndromic sensorineural deafness type DFNA [ORDO Disease]
See also inter- (CISMeF)
- DIAPH3 wt Allele [NCIt concept]
- diaphanous related formin 3 [ORDO Gene]
- symbol withdrawn AUNA1 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- auditory neuropathy, autosomal dominant, 1 [MeSH Supplementary Concept]
- auditory neuropathy, autosomal dominant, 1 [MeSH concept]
- autosomal dominant auditory neuropathy 1 [DO Concept]

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