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Deafness, autosomal dominant 20(DFNA20)

MedGen UID:
346852
Concept ID:
C1858172
Disease or Syndrome
Synonyms: DFNA20; DFNA20/26 Nonsyndromic Hearing Loss and Deafness
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
892334
Concept ID:
CN000007
Functional Concept
Source: HPO
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): ACTG1 (17q25.3)
OMIM®: 604717

Disease characteristics

Excerpted from the GeneReview: Deafness and Hereditary Hearing Loss Overview
Hereditary hearing loss and deafness may be conductive, sensorineural, or a combination of both; syndromic (associated with malformations of the external ear or other organs or with medical problems involving other organ systems) or nonsyndromic (no associated visible abnormalities of the external ear or any related medical problems); and prelingual (before language develops) or postlingual (after language develops). [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Definition  |  Causes  |  Evaluation Strategy  |  Genetic Counseling  |  Resources  |  Management  |  References  |  Chapter Notes
Authors:
Richard JH Smith  |  A Eliot Shearer  |  Michael S Hildebrand, et. al.   view full author information

Clinical features

Bilateral sensorineural hearing impairment
MedGen UID:
96788
Concept ID:
C0452138
Disease or Syndrome
A bilateral form of sensorineural hearing impairment.
Progressive sensorineural hearing impairment
MedGen UID:
335894
Concept ID:
C1843156
Disease or Syndrome
A progressive form of sensorineural hearing impairment.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Yuan Y, Gao X, Huang B, Lu J, Wang G, Lin X, Qu Y, Dai P
BMC Genet 2016 Feb 1;17:33. doi: 10.1186/s12863-016-0333-1. PMID: 26832775Free PMC Article

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