MCID: DFN128
MIFTS: 35

Deafness, Autosomal Dominant 36

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

Aliases & Classifications for Deafness, Autosomal Dominant 36

MalaCards integrated aliases for Deafness, Autosomal Dominant 36:

Name: Deafness, Autosomal Dominant 36 53 28 13 69
Dfna36 53 12 71 51
Autosomal Dominant Nonsyndromic Deafness 36 12 14
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 36 71
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 36 71
Deafness, Autosomal Dominant, 36 71
Autosomal Dominant Deafness 36 12

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
onset between 5 to 28 years of age


HPO:

31
deafness, autosomal dominant 36:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 606705
Disease Ontology 12 DOID:0110563
ICD10 32 H90.3
MeSH 41 D006319
UMLS 69 C1847626

Summaries for Deafness, Autosomal Dominant 36

UniProtKB/Swiss-Prot : 71 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, sensorineural hearing impairment and tinnitus. An important gene associated with Deafness, Autosomal Dominant 36 is TMC1 (Transmembrane Channel Like 1). Affiliated tissues include brain, and related phenotype is hearing/vestibular/ear.

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 Nonsyndromic Deafness
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 3 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86

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

(show all 27)
# Related Disease Score Top Affiliating Genes
1 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
2 non-syndromic genetic deafness 10.1 GJB2 TMC1
3 congenital cytomegalovirus 10.1 GJB2 MT-RNR1
4 branchiootic syndrome 1 10.1
5 autosomal dominant non-syndromic sensorineural deafness type dfna 10.0 GJB2 TMC1
6 deafness, autosomal recessive 26 10.0 GJB2 SLC26A4
7 deafness, autosomal recessive 23 10.0 GJB2 SLC26A4
8 vestibular disease 9.9 GJB2 SLC26A4
9 deafness, autosomal recessive 16 9.9 GJB2 SLC26A4
10 ear malformation 9.9 GJB2 SLC26A4
11 deafness, autosomal recessive 63 9.9 GJB2 STT3A TMC1
12 autosomal recessive nonsyndromic deafness 3 9.9 GJB2 SLC26A4
13 deafness, autosomal dominant 6 9.9 GJB2 SLC26A4
14 autosomal dominant nonsyndromic deafness 9.8 GJB2 TMC1 TMC2
15 deafness, autosomal dominant 13 9.8 GJB2 SLC26A4
16 autosomal recessive nonsyndromic deafness 9.8 GJB2 SLC26A4 TMC1
17 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.7 GJB2 SLC26A4 TMC1
18 sensorineural hearing loss 9.7 GJB2 SLC26A4 TMC1
19 pendred syndrome 9.7 GJB2 SLC26A4
20 deafness, autosomal recessive 12 9.6 GJB2 MT-RNR1 SLC26A4
21 inner ear disease 9.6 GJB2 MT-RNR1 SLC26A4
22 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.6 GJB2 SLC26A4
23 deafness, autosomal recessive 7 9.5 GJB2 MT-RNR1 STT3A TMC1
24 hodgkin's lymphoma, nodular sclerosis 9.4 GJB2 MT-RNR1 SLC26A4 TMC1
25 deafness, autosomal recessive 30 9.4 GJB2 MT-RNR1 SLC26A4 TMC1
26 auditory system disease 9.4 GJB2 MT-RNR1 SLC26A4 TMC1
27 nonsyndromic deafness 9.0 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:

53
Head And Neck Ears:
hearing loss, sensorineural (high frequency loss followed by low frequency loss leading to profound loss of all frequencies)
tinnitus


Clinical features from OMIM:

606705

Human phenotypes related to Deafness, Autosomal Dominant 36:

31
# Description HPO Frequency HPO Source Accession
1 tinnitus 31 HP:0000360
2 sensorineural hearing impairment 31 HP:0000407

UMLS symptoms related to Deafness, Autosomal Dominant 36:


tinnitus

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 36:

43
# 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 28 TMC1

Anatomical Context for Deafness, Autosomal Dominant 36

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

38
Brain

Publications for Deafness, Autosomal Dominant 36

Articles related to Deafness, Autosomal Dominant 36:

# Title Authors Year
1
A novel DFNA36 mutation in TMC1 orthologous to the Beethoven (Bth) mouse associated with autosomal dominant hearing loss in a Chinese family. ( 24827932 )
2014
2
A novel mutation adjacent to the Bth mouse mutation in the TMC1 gene makes this mouse an excellent model of human deafness at the DFNA36 locus. ( 20447146 )
2010
3
Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11. ( 18616530 )
2008
4
A novel mutation at the DFNA36 hearing loss locus reveals a critical function and potential genotype-phenotype correlation for amino acid-572 of TMC1. ( 17250663 )
2007
5
Early onset and rapid progression of dominant nonsyndromic DFNA36 hearing loss. ( 15354000 )
2004
6
Beethoven, a mouse model for dominant, progressive hearing loss DFNA36. ( 11850623 )
2002

Variations for Deafness, Autosomal Dominant 36

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

71
# Symbol AA change Variation ID SNP ID
1 TMC1 p.Asp572Asn VAR_014125 rs121908072

ClinVar genetic disease variations for Deafness, Autosomal Dominant 36:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TMC1 NM_138691.2(TMC1): c.1253T> A (p.Met418Lys) single nucleotide variant Pathogenic rs786201027 GRCh38 Chromosome 9, 72791914: 72791914
2 TMC1 NM_138691.2(TMC1): c.1714G> A (p.Asp572Asn) single nucleotide variant Pathogenic rs121908072 GRCh37 Chromosome 9, 75431077: 75431077
3 TMC1 NM_138691.2(TMC1): c.1714G> C (p.Asp572His) single nucleotide variant Pathogenic rs121908072 GRCh37 Chromosome 9, 75431077: 75431077

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 sensory perception of sound GO:0007605 9.43 GJB2 SLC26A4 TMC1
2 calcium ion transmembrane transport GO:0070588 9.32 TMC1 TMC2
3 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.16 TMC1 TMC2
4 regulation of calcium ion transmembrane transport GO:1903169 8.96 TMC1 TMC2
5 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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