Autosomal recessive nonsyndromic hearing loss 74(DFNB74)

MedGen UID:: 453237
•Concept ID:: C2239351
•: Disease or Syndrome

Synonym:	Deafness, autosomal recessive 74

Gene (location): Gene(s) directly associated with this condition or phenotype.	MSRB3 (12q14.3)

Monarch Initiative:	MONDO:0013386
OMIM®:	613718

Definition

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MSRB3 gene. [from MONDO]

Clinical features

From HPO

Hearing impairment

MedGen UID:: 235586
•Concept ID:: C1384666
•: Disease or Syndrome

A decreased magnitude of the sensory perception of sound.

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Rod-cone dystrophy

MedGen UID:: 1632921
•Concept ID:: C4551714
•: Disease or Syndrome

An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.

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Abnormality of the eye
- Rod-cone dystrophy
Ear malformation
- Hearing impairment

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
  - Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive
    - Autosomal recessive nonsyndromic hearing loss 74

Recent clinical studies

Etiology

GJB2 (Cx26) gene mutations in Chinese patients with congenital sensorineural deafness and a report of one novel mutation.

Xiao ZA, Xie DH
Chin Med J (Engl) 2004 Dec;117(12):1797-801. PMID: 15603707

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Clinical prediction guides

A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1.

Ramzan K, Shaikh RS, Ahmad J, Khan SN, Riazuddin S, Ahmed ZM, Friedman TB, Wilcox ER, Riazuddin S
Hum Genet 2005 Jan;116(1-2):17-22. Epub 2004 Nov 6 doi: 10.1007/s00439-004-1205-8. PMID: 15538632

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Autosomal recessive nonsyndromic hearing loss 74(DFNB74)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Etiology

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

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