DFNA4A
MCID: DFN267
MIFTS: 28

Deafness, Autosomal Dominant 4a (DFNA4A)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Deafness, Autosomal Dominant 4a

MalaCards integrated aliases for Deafness, Autosomal Dominant 4a:

Name: Deafness, Autosomal Dominant 4a 57 13
Deafness, Autosomal Dominant 4 57 29 6 72
Dfna4a 57 12 74
Dfna4 57 74
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 4 74
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 4 74
Autosomal Dominant Nonsyndromic Deafness 4a 12
Deafness, Autosomal Dominant 4; Dfna4 57
Deafness, Autosomal Dominant, Type 4a 40
Deafness, Autosomal Dominant, 4a 74
Autosomal Dominant Deafness 4a 12
Deafness Autosomal Dominant 4 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset of hearing loss in second decade


HPO:

32
deafness, autosomal dominant 4a:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110573
MeSH 44 D006319
ICD10 33 H90.3
MedGen 42 C1833503
UMLS 72 C1833503

Summaries for Deafness, Autosomal Dominant 4a

UniProtKB/Swiss-Prot : 74 Deafness, autosomal dominant, 4A: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.

MalaCards based summary : Deafness, Autosomal Dominant 4a, also known as deafness, autosomal dominant 4, is related to branchiootic syndrome 1 and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus. An important gene associated with Deafness, Autosomal Dominant 4a is MYH14 (Myosin Heavy Chain 14). Affiliated tissues include brain, and related phenotype is progressive sensorineural hearing impairment.

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently sloping hearing audioprofiles and has material basis in mutation in the MYH14 gene on chromosome 19q13.33.

More information from OMIM: 600652 PS124900

Related Diseases for Deafness, Autosomal Dominant 4a

Diseases in the Rare Deafness family:

Deafness, Autosomal Dominant 1 Deafness, Autosomal Recessive 1a
Deafness, Autosomal Recessive 2 Deafness, Autosomal Dominant 2a
Deafness, Autosomal Recessive 3 Deafness, Autosomal Dominant 4a
Deafness, Autosomal Recessive 5 Deafness, Autosomal Dominant 6
Deafness, Autosomal Recessive 6 Deafness, Autosomal Recessive 7
Deafness, Autosomal Dominant 5 Deafness, Autosomal Recessive 9
Deafness, Autosomal Recessive 8 Deafness, Autosomal Dominant 10
Deafness, Autosomal Dominant 11 Deafness, Autosomal Dominant 9
Deafness, Autosomal Recessive 12 Deafness, Autosomal Dominant 7
Deafness, Autosomal Dominant 12 Deafness, Autosomal Dominant 3a
Deafness, Autosomal Dominant 13 Deafness, Autosomal Recessive 15
Deafness, Autosomal Recessive 18a Deafness, Autosomal Dominant 15
Deafness, Autosomal Recessive 17 Deafness, Autosomal Recessive 13
Deafness, Autosomal Dominant 17 Deafness, Autosomal Recessive 21
Deafness, Autosomal Recessive 14 Deafness, Autosomal Recessive 16
Deafness, Autosomal Dominant 16 Deafness, Autosomal Recessive 20
Deafness, Autosomal Dominant 20 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 26 Deafness, Autosomal Dominant 25
Deafness, Autosomal Recessive 27 Deafness, Autosomal Dominant 18
Deafness, Autosomal Dominant 24 Deafness, Autosomal Dominant 22
Deafness, Autosomal Dominant 30 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 21 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 31 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive Deafness, Autosomal Recessive 33
Deafness, Autosomal Dominant 44 Deafness, Autosomal Dominant 52
Deafness, Autosomal Recessive 37 Deafness, Autosomal Dominant 48
Deafness, Autosomal Recessive 38 Deafness, Autosomal Dominant 41
Deafness, Autosomal Recessive 40 Deafness, Autosomal Recessive 39
Deafness, Autosomal Dominant 49 Deafness, Autosomal Dominant 43
Deafness, Autosomal Recessive 35 Deafness, Autosomal Dominant 28
Deafness, Autosomal Dominant 31 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 48 Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 42 Deafness, Autosomal Recessive 46
Deafness, Autosomal Recessive 53 Deafness, Autosomal Recessive 28
Deafness, Autosomal Recessive 51 Deafness, Autosomal Recessive 47
Deafness, Autosomal Recessive 55 Deafness, Autosomal Dominant 53
Deafness, Autosomal Recessive 62 Deafness, Autosomal Recessive 49
Deafness, Autosomal Recessive 44 Deafness, Autosomal Recessive 66
Deafness, Autosomal Recessive 59 Deafness, Autosomal Recessive 65
Deafness, Autosomal Recessive 67 Deafness, Autosomal Recessive 68
Deafness, Autosomal Recessive 24 Deafness, Autosomal Recessive 63
Deafness, Autosomal Dominant 27 Deafness, Autosomal Recessive 45
Deafness, Autosomal Dominant 59 Deafness, Autosomal Dominant 3b
Deafness, Autosomal Dominant 2b Deafness, Autosomal Recessive 1b
Deafness, Autosomal Recessive 71 Deafness, Autosomal Dominant 50
Deafness, Autosomal Recessive 77 Deafness, Autosomal Recessive 25
Deafness, Autosomal Recessive 79 Deafness, Autosomal Recessive 84a
Deafness, Autosomal Recessive 85 Deafness, Autosomal Recessive 91
Deafness, Autosomal Dominant 51 Deafness, Autosomal Recessive 83
Deafness, Autosomal Recessive 74 Deafness, Autosomal Recessive 61
Deafness, Autosomal Recessive 89 Deafness, Autosomal Recessive 29
Deafness, Autosomal Dominant 64 Deafness, Autosomal Dominant 33
Deafness, Autosomal Recessive 96 Deafness, Autosomal Dominant 4b
Deafness, Autosomal Recessive 86 Deafness, Autosomal Recessive 98
Deafness, Autosomal Recessive 93 Deafness, Autosomal Recessive 70
Deafness, Autosomal Recessive 84b Deafness, Autosomal Recessive 18b
Deafness, Autosomal Recessive 88 Deafness, Autosomal Recessive 76
Deafness, Autosomal Dominant 56 Deafness, Autosomal Dominant 54
Deafness, Autosomal Dominant 58 Deafness, Autosomal Recessive 101
Deafness, Autosomal Recessive 102 Deafness, Autosomal Recessive 103
Deafness, Autosomal Dominant 65 Deafness, Autosomal Dominant 67
Deafness, Autosomal Dominant 40 Deafness, Autosomal Recessive 104
Deafness, Autosomal Dominant 69 Deafness, Autosomal Recessive 97
Deafness, Autosomal Dominant 68 Deafness, Autosomal Dominant 70
Deafness, Autosomal Dominant 66 Deafness, Autosomal Dominant 71
Deafness, Autosomal Dominant 72 Deafness, Autosomal Recessive 106
Deafness, Autosomal Recessive 107 Deafness, Autosomal Recessive 108
Deafness, Autosomal Dominant 73 Deafness, Autosomal Recessive 57
Deafness, Autosomal Recessive 109 Deafness, Autosomal Recessive 110
Deafness, Autosomal Dominant 74 Deafness, Autosomal Recessive 111
Deafness, Autosomal Recessive 112 Deafness, Autosomal Recessive 113
Deafness, Autosomal Recessive 100 Deafness, Autosomal Recessive 94
Deafness, Autosomal Recessive 114 Deafness, Autosomal Recessive 115
Deafness, Autosomal Recessive 99 Deafness, Autosomal Dominant 37
Nonsyndromic Deafness Autosomal Dominant Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness 106
Autosomal Recessive Nonsyndromic Deafness 107 Autosomal Recessive Nonsyndromic Deafness 108
Autosomal Dominant Nonsyndromic Deafness 71 Autosomal Dominant Nonsyndromic Deafness 72
Autosomal Dominant Nonsyndromic Deafness 73 Autosomal Dominant Nonsyndromic Deafness 34
Autosomal Recessive Nonsyndromic Deafness 3 Autosomal Recessive Nonsyndromic Deafness 32
Autosomal Recessive Nonsyndromic Deafness 36 Familial Deafness

Diseases related to Deafness, Autosomal Dominant 4a via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 1 10.5
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
3 autosomal dominant non-syndromic sensorineural deafness type dfna 10.3
4 deafness, autosomal dominant 4b 10.3
5 nonsyndromic deafness 10.3
6 deafness, autosomal dominant 6 10.1
7 deafness, autosomal dominant 7 10.1
8 deafness, autosomal dominant 16 10.1
9 deafness, autosomal dominant 20 10.1
10 deafness, autosomal dominant 21 10.1
11 autosomal dominant nonsyndromic deafness 10.1
12 sensorineural hearing loss 10.1

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 4a:



Diseases related to Deafness, Autosomal Dominant 4a

Symptoms & Phenotypes for Deafness, Autosomal Dominant 4a

Human phenotypes related to Deafness, Autosomal Dominant 4a:

32
# Description HPO Frequency HPO Source Accession
1 progressive sensorineural hearing impairment 32 HP:0000408

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss, sensorineural, progressive

Clinical features from OMIM:

600652

Drugs & Therapeutics for Deafness, Autosomal Dominant 4a

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 4a

Genetic Tests for Deafness, Autosomal Dominant 4a

Genetic tests related to Deafness, Autosomal Dominant 4a:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 4 29 MYH14

Anatomical Context for Deafness, Autosomal Dominant 4a

MalaCards organs/tissues related to Deafness, Autosomal Dominant 4a:

41
Brain

Publications for Deafness, Autosomal Dominant 4a

Articles related to Deafness, Autosomal Dominant 4a:

(show all 25)
# Title Authors PMID Year
1
Genetic heterogeneity of deafness phenotypes linked to DFNA4. 38 8 71
16222661 2005
2
Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4). 38 8 71
15015131 2004
3
Second family with hearing impairment linked to 19q13 and refined DFNA4 localisation. 38 8
11938438 2002
4
Linkage of a gene for dominant non-syndromic deafness to chromosome 19. 38 8
7655461 1995
5
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 71
24651602 2014
6
Disease-associated mutations and alternative splicing alter the enzymatic and motile activity of nonmuscle myosins II-B and II-C. 71
15845534 2005
7
Hereditary Hearing Loss and Deafness Overview 71
20301607 1999
8
Loss of Myh14 Increases Susceptibility to Noise-Induced Hearing Loss in CBA/CaJ Mice. 38
28101381 2016
9
Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese family. 38
25589040 2015
10
Clue to a new deafness gene: a large Chinese nonsyndromic hearing loss family linked to DFNA4. 38
23273769 2012
11
Loss of mammal-specific tectorial membrane component carcinoembryonic antigen cell adhesion molecule 16 (CEACAM16) leads to hearing impairment at low and high frequencies. 38
22544735 2012
12
A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14. 38
21480433 2011
13
Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4). 38
21368133 2011
14
[c.359T>C mutation of the MYH14 gene in two autosomal dominant non-syndromic hearing impairment families with common ancestor]. 38
20533261 2010
15
A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family. 38
18348273 2008
16
Refinement of the DFNA4 locus to a 1.44 Mb region in 19q13.33. 38
15042303 2004
17
Genomic structure, cochlear expression, and mutation screening of KCNK6, a candidate gene for DFNA4. 38
14689445 2004
18
Clinical presentation of the DFNA loci where causative genes have not yet been cloned. DFNA4, DFNA6/14, DFNA7, DFNA16, DFNA20 and DFNA21. 38
12408070 2002
19
Proteomic analysis of the mammalian mitochondrial ribosome. Identification of protein components in the 28 S small subunit. 38
11402041 2001
20
Novel coding-region polymorphisms in mitochondrial seryl-tRNA synthetase (SARSM) and mitoribosomal protein S12 (RPMS12) genes in DFNA4 autosomal dominant deafness families. 38
11317363 2001
21
Characterization and tRNA recognition of mammalian mitochondrial seryl-tRNA synthetase. 38
10764807 2000
22
2E4/Kaptin (KPTN)--a candidate gene for the hearing loss locus, DFNA4. 38
11409409 2000
23
Characterization of the human mitochondrial ribosomal S12 gene. 38
9790755 1998
24
Chromosomal locations of three human nuclear genes (RPSM12, TUFM, and AFG3L1) specifying putative components of the mitochondrial gene expression apparatus. 38
9545647 1998
25
Presymptomatic diagnosis of nonsyndromic hearing loss by genotyping. 38
9440775 1998

Variations for Deafness, Autosomal Dominant 4a

ClinVar genetic disease variations for Deafness, Autosomal Dominant 4a:

6 (show all 14)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MYH14 NM_001145809.2(MYH14): c.20C> A (p.Ser7Ter) single nucleotide variant Pathogenic rs119103279 19:50713642-50713642 19:50210385-50210385
2 MYH14 NM_001145809.2(MYH14): c.3049C> T (p.Leu1017Phe) single nucleotide variant Pathogenic rs28940306 19:50774681-50774681 19:50271424-50271424
3 MYH14 NM_001145809.2(MYH14): c.2299C> A (p.Arg767Ser) single nucleotide variant Pathogenic rs28940307 19:50762467-50762467 19:50259210-50259210
4 MYH14 NM_001145809.2(MYH14): c.359C> T (p.Ser120Leu) single nucleotide variant Pathogenic rs119103281 19:50713981-50713981 19:50210724-50210724
5 MYH14 NM_001145809.2(MYH14): c.2971G> A (p.Glu991Lys) single nucleotide variant Likely pathogenic 19:50771562-50771562 19:50268305-50268305
6 MYH14 NM_001145809.2(MYH14): c.3825+2T> G single nucleotide variant Uncertain significance 19:50780160-50780160 19:50276903-50276903
7 MYH14 NM_001145809.2(MYH14): c.1462G> T (p.Ala488Ser) single nucleotide variant Uncertain significance 19:50752376-50752376 19:50249119-50249119
8 MYH14 NM_001145809.2(MYH14): c.851T> C (p.Ile284Thr) single nucleotide variant Uncertain significance 19:50730200-50730200 19:50226943-50226943
9 MYH14 NM_001145809.2(MYH14): c.2893G> A (p.Glu965Lys) single nucleotide variant Uncertain significance rs773353115 19:50771484-50771484 19:50268227-50268227
10 MYH14 NM_001145809.2(MYH14): c.3629G> A (p.Arg1210Gln) single nucleotide variant Uncertain significance rs794729639 19:50779409-50779409 19:50276152-50276152
11 MYH14 NM_001145809.2(MYH14): c.3850C> T (p.Arg1284Trp) single nucleotide variant Uncertain significance rs201515738 19:50781364-50781364 19:50278107-50278107
12 MYH14 NM_001145809.2(MYH14): c.2845C> T (p.Arg949Cys) single nucleotide variant Uncertain significance 19:50771436-50771436 19:50268179-50268179
13 MYH14 NM_001145809.2(MYH14): c.3468-3C> T single nucleotide variant Benign/Likely benign rs78192108 19:50779245-50779245 19:50275988-50275988
14 MYH14 NM_001145809.2(MYH14): c.1150G> T (p.Gly384Cys) single nucleotide variant Benign/Likely benign rs119103280 19:50747534-50747534 19:50244277-50244277

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 4a:

74
# Symbol AA change Variation ID SNP ID
1 MYH14 p.Gly376Cys VAR_022867 rs119103280
2 MYH14 p.Arg726Ser VAR_022868 rs28940307
3 MYH14 p.Leu976Phe VAR_022869 rs28940306
4 MYH14 p.Ser120Leu VAR_037302 rs119103281

Expression for Deafness, Autosomal Dominant 4a

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 4a.

Pathways for Deafness, Autosomal Dominant 4a

GO Terms for Deafness, Autosomal Dominant 4a

Sources for Deafness, Autosomal Dominant 4a

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10 dbSNP
11 DGIdb
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38 LifeMap
40 LOVD
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44 MeSH
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54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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