DFNA4A
MCID: DFN267
MIFTS: 21

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 73
Dfna4a 57 12 75
Dfna4 57 75
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 4 75
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 4 75
Autosomal Dominant Nonsyndromic Deafness 4a 12
Deafness, Autosomal Dominant 4; Dfna4 57
Deafness, Autosomal Dominant, Type 4a 40
Deafness, Autosomal Dominant, 4a 75
Autosomal Dominant Deafness 4a 12
Deafness Autosomal Dominant 4 75

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:

OMIM 57 600652
Disease Ontology 12 DOID:0110573
ICD10 33 H90.3
MedGen 42 C1833503
MeSH 44 D006319
SNOMED-CT via HPO 69 263681008
UMLS 73 C1833503

Summaries for Deafness, Autosomal Dominant 4a

UniProtKB/Swiss-Prot : 75 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 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus and deafness, autosomal dominant 6. 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.

Description from OMIM: 600652

Related Diseases for Deafness, Autosomal Dominant 4a

Diseases in the Familial 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
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 105 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 32 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86 Otof-Related Deafness

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

# Related Disease Score Top Affiliating Genes
1 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
2 deafness, autosomal dominant 6 10.1
3 deafness, autosomal dominant 20 10.1

Symptoms & Phenotypes for Deafness, Autosomal Dominant 4a

Symptoms via clinical synopsis from OMIM:

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


Clinical features from OMIM:

600652

Human phenotypes related to Deafness, Autosomal Dominant 4a:

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

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

Variations for Deafness, Autosomal Dominant 4a

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

75
# 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

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

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYH14 NM_001145809.1(MYH14): c.20C> A (p.Ser7Ter) single nucleotide variant Pathogenic rs119103279 GRCh37 Chromosome 19, 50713642: 50713642
2 MYH14 NM_001145809.1(MYH14): c.20C> A (p.Ser7Ter) single nucleotide variant Pathogenic rs119103279 GRCh38 Chromosome 19, 50210385: 50210385
3 MYH14 NM_001145809.1(MYH14): c.3049C> T (p.Leu1017Phe) single nucleotide variant Pathogenic rs28940306 GRCh37 Chromosome 19, 50774681: 50774681
4 MYH14 NM_001145809.1(MYH14): c.3049C> T (p.Leu1017Phe) single nucleotide variant Pathogenic rs28940306 GRCh38 Chromosome 19, 50271424: 50271424
5 MYH14 NM_001145809.1(MYH14): c.2299C> A (p.Arg767Ser) single nucleotide variant Pathogenic rs28940307 GRCh37 Chromosome 19, 50762467: 50762467
6 MYH14 NM_001145809.1(MYH14): c.2299C> A (p.Arg767Ser) single nucleotide variant Pathogenic rs28940307 GRCh38 Chromosome 19, 50259210: 50259210
7 MYH14 NM_024729.3(MYH14): c.1126G> T (p.Gly376Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs119103280 GRCh37 Chromosome 19, 50747534: 50747534
8 MYH14 NM_024729.3(MYH14): c.1126G> T (p.Gly376Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs119103280 GRCh38 Chromosome 19, 50244277: 50244277
9 MYH14 NM_024729.3(MYH14): c.359C> T (p.Ser120Leu) single nucleotide variant Pathogenic rs119103281 GRCh37 Chromosome 19, 50713981: 50713981
10 MYH14 NM_024729.3(MYH14): c.359C> T (p.Ser120Leu) single nucleotide variant Pathogenic rs119103281 GRCh38 Chromosome 19, 50210724: 50210724
11 MYH14 NM_001077186.1(MYH14): c.3369-3C> T single nucleotide variant Benign/Likely benign rs78192108 GRCh37 Chromosome 19, 50779245: 50779245
12 MYH14 NM_001077186.1(MYH14): c.3369-3C> T single nucleotide variant Benign/Likely benign rs78192108 GRCh38 Chromosome 19, 50275988: 50275988
13 MYH14 NM_024729.3(MYH14): c.3506G> A (p.Arg1169Gln) single nucleotide variant Uncertain significance rs794729639 GRCh38 Chromosome 19, 50276152: 50276152
14 MYH14 NM_024729.3(MYH14): c.3506G> A (p.Arg1169Gln) single nucleotide variant Uncertain significance rs794729639 GRCh37 Chromosome 19, 50779409: 50779409
15 MYH14 NM_024729.3(MYH14): c.3727C> T (p.Arg1243Trp) single nucleotide variant Uncertain significance rs201515738 GRCh37 Chromosome 19, 50781364: 50781364
16 MYH14 NM_024729.3(MYH14): c.3727C> T (p.Arg1243Trp) single nucleotide variant Uncertain significance rs201515738 GRCh38 Chromosome 19, 50278107: 50278107

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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