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Autosomal dominant nonsyndromic hearing loss 64(DFNA64)

MedGen UID:: 481578
•Concept ID:: C3279948
•: Disease or Syndrome

Synonym:	Deafness, autosomal dominant 64

Gene (location): Gene(s) directly associated with this condition or phenotype.	DIABLO (12q24.31)

Monarch Initiative:	MONDO:0013593
OMIM®:	614152

Definition

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIABLO gene. [from MONDO]

Clinical features

From HPO

Sensorineural hearing loss disorder

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

Tinnitus

MedGen UID:: 52760
•Concept ID:: C0040264
•: Disease or Syndrome

Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.

See: Feature record | Search on this feature

Ear malformation
- Sensorineural hearing loss disorder
- Tinnitus

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHereditary hearing loss and deafness

Hereditary hearing loss and deafness
- Nonsyndromic genetic hearing loss
  - Autosomal dominant nonsyndromic hearing loss
    - Autosomal dominant nonsyndromic hearing loss 64

Recent clinical studies

Etiology

Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants.

Hiramatsu K, Nishio SY, Kitajiri SI, Kitano T, Moteki H, Usami SI, On Behalf Of The Deafness Gene Study Consortium
Genes (Basel) 2021 Oct 15;12(10) doi: 10.3390/genes12101623. PMID: 34681017 Free PMC Article

See all (1)

Diagnosis

Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants.

See all (1)

Prognosis

Further evidence for loss-of-function mutations in the CEACAM16 gene causing nonsyndromic autosomal recessive hearing loss in humans.

Dias AMM, Lezirovitz K, Nicastro FS, Mendes BCA, Mingroni-Netto RC
J Hum Genet 2019 Mar;64(3):257-260. Epub 2018 Dec 4 doi: 10.1038/s10038-018-0546-4. PMID: 30514912

See all (1)

Clinical prediction guides

Further evidence for loss-of-function mutations in the CEACAM16 gene causing nonsyndromic autosomal recessive hearing loss in humans.

Dias AMM, Lezirovitz K, Nicastro FS, Mendes BCA, Mingroni-Netto RC
J Hum Genet 2019 Mar;64(3):257-260. Epub 2018 Dec 4 doi: 10.1038/s10038-018-0546-4. PMID: 30514912

Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss.

Kalay E, Karaguzel A, Caylan R, Heister A, Cremers FP, Cremers CW, Brunner HG, de Brouwer AP, Kremer H
Hum Mutat 2005 Dec;26(6):591. doi: 10.1002/humu.9384. PMID: 16287143

See all (2)

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Autosomal dominant nonsyndromic hearing loss 64(DFNA64)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

Related information

Recent activity