MCID: DFN128
MIFTS: 31

Deafness, Autosomal Dominant 36

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

Aliases & Classifications for Deafness, Autosomal Dominant 36

MalaCards integrated aliases for Deafness, Autosomal Dominant 36:

Name: Deafness, Autosomal Dominant 36 57 29 13 6 73
Dfna36 57 12 75 55
Autosomal Dominant Nonsyndromic Deafness 36 12 15
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 36 75
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 36 75
Deafness, Autosomal Dominant, Type 36 40
Deafness, Autosomal Dominant, 36 75
Autosomal Dominant Deafness 36 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset between 5 to 28 years of age


HPO:

32
deafness, autosomal dominant 36:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 606705
Disease Ontology 12 DOID:0110563
ICD10 33 H90.3
MeSH 44 D006319
UMLS 73 C1847626

Summaries for Deafness, Autosomal Dominant 36

UniProtKB/Swiss-Prot : 75 Deafness, autosomal dominant, 36: 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. DFNA36 is a bilateral hearing loss, and begins at 5-10 years of age. It progresses to profound deafness within 10-15 years.

MalaCards based summary : Deafness, Autosomal Dominant 36, also known as dfna36, is related to ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus and non-syndromic genetic deafness, and has symptoms including tinnitus An important gene associated with Deafness, Autosomal Dominant 36 is TMC1 (Transmembrane Channel Like 1). Affiliated tissues include brain, and related phenotypes are sensorineural hearing impairment and tinnitus

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has material basis in mutation in the TMC1 gene on chromosome 9q21.

Description from OMIM: 606705

Related Diseases for Deafness, Autosomal Dominant 36

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 32 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 Recessive 105 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 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 36 Autosomal Recessive Nonsyndromic Deafness 86
Otof-Related Deafness

Diseases related to Deafness, Autosomal Dominant 36 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
2 non-syndromic genetic deafness 10.1 GJB2 TMC1
3 congenital cytomegalovirus 10.1 GJB2 MT-RNR1
4 autosomal dominant non-syndromic sensorineural deafness type dfna 10.0 GJB2 TMC1
5 deafness, autosomal recessive 23 10.0 GJB2 SLC26A4
6 deafness, autosomal recessive 26 10.0 GJB2 SLC26A4
7 vestibular disease 9.9 GJB2 SLC26A4
8 ear malformation 9.9 GJB2 SLC26A4
9 deafness, autosomal recessive 16 9.9 GJB2 SLC26A4
10 autosomal recessive nonsyndromic deafness 3 9.9 GJB2 SLC26A4
11 deafness, autosomal dominant 6 9.8 GJB2 SLC26A4
12 autosomal dominant nonsyndromic deafness 9.7 GJB2 TMC1 TMC2
13 deafness, autosomal dominant 13 9.7 GJB2 SLC26A4
14 autosomal recessive nonsyndromic deafness 9.6 GJB2 SLC26A4 TMC1
15 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.6 GJB2 SLC26A4 TMC1
16 sensorineural hearing loss 9.5 GJB2 SLC26A4 TMC1
17 pendred syndrome 9.5 GJB2 SLC26A4
18 inner ear disease 9.4 GJB2 MT-RNR1 SLC26A4
19 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.3 GJB2 SLC26A4
20 deafness, autosomal recessive 7 9.3 GJB2 MT-RNR1 STT3A TMC1
21 hodgkin's lymphoma, nodular sclerosis 9.0 GJB2 MT-RNR1 SLC26A4 TMC1
22 deafness, autosomal recessive 30 9.0 GJB2 MT-RNR1 SLC26A4 TMC1
23 auditory system disease 9.0 GJB2 MT-RNR1 SLC26A4 TMC1
24 nonsyndromic deafness 8.4 GJB2 MT-RNR1 SLC26A4 TMC1 TMC2

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 36:



Diseases related to Deafness, Autosomal Dominant 36

Symptoms & Phenotypes for Deafness, Autosomal Dominant 36

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
tinnitus
hearing loss, sensorineural (high frequency loss followed by low frequency loss leading to profound loss of all frequencies)


Clinical features from OMIM:

606705

Human phenotypes related to Deafness, Autosomal Dominant 36:

32
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407
2 tinnitus 32 HP:0000360

UMLS symptoms related to Deafness, Autosomal Dominant 36:


tinnitus

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 36:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.02 ACTB GJB2 SLC26A4 TMC1 TMC2

Drugs & Therapeutics for Deafness, Autosomal Dominant 36

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 36

Genetic Tests for Deafness, Autosomal Dominant 36

Genetic tests related to Deafness, Autosomal Dominant 36:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 36 29 TMC1

Anatomical Context for Deafness, Autosomal Dominant 36

MalaCards organs/tissues related to Deafness, Autosomal Dominant 36:

41
Brain

Publications for Deafness, Autosomal Dominant 36

Variations for Deafness, Autosomal Dominant 36

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 36:

75
# Symbol AA change Variation ID SNP ID
1 TMC1 p.Asp572Asn VAR_014125 rs121908072

ClinVar genetic disease variations for Deafness, Autosomal Dominant 36:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 TMC1 NM_138691.2(TMC1): c.1714G> A (p.Asp572Asn) single nucleotide variant Pathogenic rs121908072 GRCh37 Chromosome 9, 75431077: 75431077
2 TMC1 NM_138691.2(TMC1): c.1714G> A (p.Asp572Asn) single nucleotide variant Pathogenic rs121908072 GRCh38 Chromosome 9, 72816161: 72816161
3 TMC1 NM_138691.2(TMC1): c.1714G> C (p.Asp572His) single nucleotide variant Pathogenic rs121908072 GRCh37 Chromosome 9, 75431077: 75431077
4 TMC1 NM_138691.2(TMC1): c.1714G> C (p.Asp572His) single nucleotide variant Pathogenic rs121908072 GRCh38 Chromosome 9, 72816161: 72816161
5 TMC1 NM_138691.2(TMC1): c.1253T> A (p.Met418Lys) single nucleotide variant Pathogenic rs786201027 GRCh38 Chromosome 9, 72791914: 72791914
6 TMC1 NM_138691.2(TMC1): c.1253T> A (p.Met418Lys) single nucleotide variant Pathogenic rs786201027 GRCh37 Chromosome 9, 75406830: 75406830
7 TMC1 NM_138691.2(TMC1): c.624C> A (p.Ser208Arg) single nucleotide variant Uncertain significance rs781747541 GRCh38 Chromosome 9, 72751938: 72751938
8 TMC1 NM_138691.2(TMC1): c.624C> A (p.Ser208Arg) single nucleotide variant Uncertain significance rs781747541 GRCh37 Chromosome 9, 75366854: 75366854
9 TMC1 NM_138691.2(TMC1): c.938T> C (p.Phe313Ser) single nucleotide variant Uncertain significance rs1060499599 GRCh37 Chromosome 9, 75403308: 75403308
10 TMC1 NM_138691.2(TMC1): c.938T> C (p.Phe313Ser) single nucleotide variant Uncertain significance rs1060499599 GRCh38 Chromosome 9, 72788392: 72788392
11 TMC1 NM_138691.2(TMC1): c.236+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs775428246 GRCh38 Chromosome 9, 72694715: 72694715
12 TMC1 NM_138691.2(TMC1): c.236+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs775428246 GRCh37 Chromosome 9, 75309631: 75309631

Expression for Deafness, Autosomal Dominant 36

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 36.

Pathways for Deafness, Autosomal Dominant 36

GO Terms for Deafness, Autosomal Dominant 36

Cellular components related to Deafness, Autosomal Dominant 36 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 stereocilium tip GO:0032426 8.62 TMC1 TMC2

Biological processes related to Deafness, Autosomal Dominant 36 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.54 SLC26A4 TMC1 TMC2
2 sensory perception of sound GO:0007605 9.43 GJB2 SLC26A4 TMC1
3 calcium ion transmembrane transport GO:0070588 9.32 TMC1 TMC2
4 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.16 TMC1 TMC2
5 regulation of calcium ion transmembrane transport GO:1903169 8.96 TMC1 TMC2
6 vestibular reflex GO:0060005 8.62 TMC1 TMC2

Molecular functions related to Deafness, Autosomal Dominant 36 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated calcium channel activity GO:0005245 8.96 TMC1 TMC2
2 mechanosensitive ion channel activity GO:0008381 8.62 TMC1 TMC2

Sources for Deafness, Autosomal Dominant 36

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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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