DFNA36
MCID: DFN128
MIFTS: 32

Deafness, Autosomal Dominant 36 (DFNA36) malady

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

Aliases & Classifications for Deafness, Autosomal Dominant 36

Aliases & Descriptions for Deafness, Autosomal Dominant 36:

Name: Deafness, Autosomal Dominant 36 54 13 69
Dfna36 12 66 52
Autosomal Dominant Nonsyndromic Deafness 36 12 14
Deafness, Autosomal Dominant, 36 66 29
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 36 66
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 36 66
Autosomal Dominant Deafness 36 12

Characteristics:

HPO:

32
deafness, autosomal dominant 36:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 606705
Disease Ontology 12 DOID:0110563
ICD10 33 H90.3
MeSH 42 D006319

Summaries for Deafness, Autosomal Dominant 36

UniProtKB/Swiss-Prot : 66 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 dfna36 nonsyndromic hearing loss and deafness and congenital herpes simplex, and has symptoms including 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 Recessive 96 Deafness, Autosomal Recessive 36
Deafness, Autosomal Dominant 2b Deafness, Autosomal Recessive
Deafness, Autosomal Dominant 2a Deafness, Autosomal Recessive 32
Deafness, Autosomal Dominant 7 Deafness, Autosomal Dominant 49
Deafness, Autosomal Recessive 45 Deafness, Autosomal Recessive 9
Deafness, Autosomal Dominant 58 Deafness, Autosomal Recessive 70
Deafness, Autosomal Dominant 43 Deafness, Autosomal Recessive 88
Deafness, Autosomal Dominant 16 Deafness, Autosomal Recessive 27
Deafness, Autosomal Recessive 59 Deafness, Autosomal Recessive 6
Deafness, Autosomal Recessive 42 Deafness, Autosomal Dominant 18
Deafness, Autosomal Dominant 44 Deafness, Autosomal Dominant 6/14/38
Deafness, Autosomal Recessive 25 Deafness, Autosomal Dominant 27
Deafness, Autosomal Recessive 55 Deafness, Autosomal Recessive 26
Deafness, Autosomal Dominant 24 Deafness, Autosomal Recessive 49
Deafness, Autosomal Dominant 1 Deafness, Autosomal Dominant 54
Deafness, Autosomal Dominant 15 Deafness, Autosomal Dominant 52
Deafness, Autosomal Recessive 101 Deafness, Autosomal Recessive 91
Deafness, Autosomal Dominant 21 Deafness, Autosomal Recessive 104
Deafness, Autosomal Recessive 66 Deafness, Autosomal Dominant 13
Deafness, Autosomal Recessive 53 Deafness, Autosomal Dominant 31
Deafness, Autosomal Recessive 67 Deafness, Autosomal Recessive 103
Deafness, Autosomal Dominant 22 Deafness, Autosomal Recessive 37
Deafness, Autosomal Dominant 10 Deafness, Autosomal Recessive 38
Deafness, Autosomal Dominant 5 Deafness, Autosomal Recessive 44
Deafness, Autosomal Recessive 39 Deafness, Autosomal Recessive 61
Deafness, Autosomal Recessive 14 Deafness, Autosomal Recessive 17
Deafness, Autosomal Dominant 50 Deafness, Autosomal Recessive 13
Deafness, Autosomal Recessive 71 Deafness, Autosomal Dominant 28
Deafness, Autosomal Recessive 83 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 7 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 51 Deafness, Autosomal Recessive 31
Deafness, Autosomal Dominant 56 Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 33 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive 12 Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 18a Deafness, Autosomal Recessive 18b
Deafness, Autosomal Dominant 59 Deafness, Autosomal Recessive 51
Deafness, Autosomal Recessive 93 Deafness, Autosomal Recessive 63
Deafness, Autosomal Recessive 2 Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 8/12 Deafness, Autosomal Recessive 21
Deafness, Autosomal Recessive 24 Deafness, Autosomal Recessive 20
Deafness, Autosomal Recessive 62 Deafness, Autosomal Recessive 102
Deafness, Autosomal Dominant 48 Deafness, Autosomal Recessive 74
Deafness, Autosomal Recessive 84a Deafness, Autosomal Recessive 84b
Deafness, Autosomal Dominant 25 Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 41 Deafness, Autosomal Recessive 1a
Deafness, Autosomal Dominant 3a Deafness, Autosomal Dominant 3b
Deafness, Autosomal Recessive 1b Deafness, Autosomal Dominant 33
Deafness, Autosomal Dominant 53 Deafness, Autosomal Recessive 5
Deafness, Autosomal Dominant 9 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 35 Deafness, Autosomal Recessive 16
Deafness, Autosomal Recessive 48 Deafness, Autosomal Dominant 30
Deafness , Autosomal Recessive 86 Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 40 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 89 Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 3 Deafness, Autosomal Dominant 20/26
Deafness, Autosomal Recessive 46 Deafness, Autosomal Recessive 77
Deafness, Autosomal Recessive 15 Deafness, Autosomal Recessive 68
Deafness, Autosomal Recessive 76 Deafness, Autosomal Dominant 4b
Deafness, Autosomal Dominant 4a Deafness, Autosomal Dominant 67
Deafness, Autosomal Recessive 65 Deafness, Autosomal Recessive 29
Deafness, Autosomal Recessive 8/10 Deafness, Autosomal Recessive 98
Deafness, Autosomal Dominant 17 Deafness, Autosomal Recessive 40
Deafness, Autosomal Recessive 28 Nonsyndromic Deafness
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 105 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 47 Autosomal Recessive Nonsyndromic Deafness 8
Autosomal Recessive Nonsyndromic Deafness 97 Autosomal Dominant Nonsyndromic Deafness 12
Autosomal Dominant Nonsyndromic Deafness 20 Autosomal Dominant Nonsyndromic Deafness 6
Autosomal Dominant Nonsyndromic Deafness 66 Autosomal Dominant Nonsyndromic Deafness 68
Autosomal Dominant Nonsyndromic Deafness 69 Autosomal Dominant Nonsyndromic Deafness 70
Otof-Related Deafness

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

(show all 24)
id Related Disease Score Top Affiliating Genes
1 dfna36 nonsyndromic hearing loss and deafness 11.8
2 congenital herpes simplex 10.1 GJB2 MT-RNR1
3 efemp2-related cutis laxa 10.1 GJB2 MT-RNR1
4 panic disorder 3 10.0 GJB2 SLC26A4
5 charcot-marie-tooth disease, type 1d 10.0 GJB2 SLC26A4
6 telangiectasia macularis eruptiva perstans 10.0 GJB2 TMC1
7 bartter syndrome, type 1 10.0 GJB2 SLC26A4
8 autosomal dominant nonsyndromic deafness 69 10.0 GJB2 SLC26A4
9 autosomal recessive nonsyndromic deafness 97 10.0 GJB2 SLC26A4
10 deafness, autosomal recessive 23 10.0 GJB2 SLC26A4
11 autoimmune gastrointestinal dysmotility 10.0 GJB2 MT-RNR1
12 fibrochondrogenesis 2 10.0 GJB2 SLC26A4
13 obesity susceptibility, adrb3-related 10.0 GJB2 MT-RNR1 TMC1
14 duodenum cancer 9.9 GJB2 SLC26A4 TMC1
15 mitochondrial non-syndromic sensorineural deafness 9.9 GJB2 SLC26A4 TMC1
16 erythrocytosis due to bisphosphoglycerate mutase deficiency 9.9 GJB2 SLC26A4
17 cockayne syndrome 9.9 GJB2 MT-RNR1 SLC26A4
18 dihydrolipoamide dehydrogenase deficiency 9.8 GJB2 SLC26A4
19 cataract 26, multiple types 9.8 GJB2 MT-RNR1 STT3A TMC1
20 molluscum contagiosum 9.7 GJB2 MT-RNR1 SLC26A4 TMC1
21 omenn syndrome 9.7 GJB2 MT-RNR1 SLC26A4 TMC1
22 narcissistic personality disorder 9.7 GJB2 MT-RNR1 SLC26A4 TMC1
23 x-linked nonsyndromic deafness 9.7 GJB2 MT-RNR1 SLC26A4 TMC1
24 sturge-weber syndrome, somatic, mosaic 9.0 ACTB GJB2 MT-RNR1 SLC26A4 STT3A TMC1

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 by clinical synopsis from OMIM:

606705

Clinical features from OMIM:

606705

Human phenotypes related to Deafness, Autosomal Dominant 36:

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

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 36:

44
id 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

Interventional clinical trials:


id Name Status NCT ID Phase
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Deafness, Autosomal Dominant 36

Genetic Tests for Deafness, Autosomal Dominant 36

Genetic tests related to Deafness, Autosomal Dominant 36:

id Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 36 29

Anatomical Context for Deafness, Autosomal Dominant 36

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

39
Brain

Publications for Deafness, Autosomal Dominant 36

Variations for Deafness, Autosomal Dominant 36

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

66
id Symbol AA change Variation ID SNP ID
1 TMC1 p.Asp572Asn VAR_014125 rs121908072

ClinVar genetic disease variations for Deafness, Autosomal Dominant 36:

6
id 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> C (p.Asp572His) single nucleotide variant Pathogenic rs121908072 GRCh37 Chromosome 9, 75431077: 75431077
3 TMC1 NM_138691.2(TMC1): c.1253T> A (p.Met418Lys) single nucleotide variant Pathogenic rs786201027 GRCh38 Chromosome 9, 72791914: 72791914

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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.33 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 9.26 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:

id Name GO ID Score Top Affiliating Genes
1 voltage-gated calcium channel activity GO:0005245 8.96 TMC1 TMC2
2 mechanically-gated 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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