Autosomal dominant nonsyndromic hearing loss 3A(DFNA3A)

MedGen UID:: 436512
•Concept ID:: C2675750
•: Disease or Syndrome

Synonyms:	Deafness, autosomal dominant 3a; GJB2-Related DFNA 3 Nonsyndromic Hearing Loss and Deafness

Gene (location): Gene(s) directly associated with this condition or phenotype.	GJB2 (13q12.11)

Monarch Initiative:	MONDO:0011103
OMIM®:	601544

Definition

Nonsyndromic hearing loss and deafness, DFNA3 is characterized by pre- or postlingual mild-to-profound progressive high-frequency sensorineural hearing impairment. Affected individuals have no other associated medical findings. [from GeneReviews]

Clinical features

From HPO

Sensorineural hearing impairment

MedGen UID:: 9164
•Concept ID:: C0018784
•: Disease or Syndrome

A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.

See: Feature record | Search on this feature

Abnormality of the ear
- Sensorineural hearing impairment

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVDFNA 3 Nonsyndromic Hearing Loss and Deafness
- CROGVAutosomal dominant nonsyndromic hearing loss 3A
- CROGVAutosomal dominant nonsyndromic hearing loss 3B

DFNA 3 Nonsyndromic Hearing Loss and Deafness
- Autosomal dominant nonsyndromic hearing loss 3A

Recent clinical studies

Diagnosis

Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population.

Ramzan K, Al-Owain M, Al-Numair NS, Afzal S, Al-Ageel S, Al-Amer S, Al-Baik L, Al-Otaibi GF, Hashem A, Al-Mashharawi E, Basit S, Al-Mazroea AH, Softah A, Sogaty S, Imtiaz F
Am J Med Genet B Neuropsychiatr Genet 2020 Apr;183(3):172-180. Epub 2019 Dec 19 doi: 10.1002/ajmg.b.32774. PMID: 31854501

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