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

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Aliases & Descriptions for Deafness, Autosomal Dominant 36:

Name: Deafness, Autosomal Dominant 36 52 12 68
Dfna36 11 70 50
Autosomal Dominant Nonsyndromic Deafness 36 11 13
Deafness, Autosomal Dominant, 36 70 27
 
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 36 70
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 36 70
Autosomal Dominant Deafness 36 11

Characteristics:

HPO:

64
deafness, autosomal dominant 36:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 606705
Disease Ontology11 DOID:0110563
ICD1030 H90.3
MeSH39 D006319

Summaries for Deafness, Autosomal Dominant 36

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UniProtKB/Swiss-Prot:70 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 tinnitus and sensorineural hearing impairment. An important gene associated with Deafness, Autosomal Dominant 36 is TMC1 (Transmembrane Channel Like 1). Affiliated tissues include brain, and related mouse phenotype hearing/vestibular/ear.

Disease Ontology:11 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:52 606705

Related Diseases for Deafness, Autosomal Dominant 36

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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)
idRelated DiseaseScoreTop Affiliating Genes
1dfna36 nonsyndromic hearing loss and deafness11.8
2congenital herpes simplex10.1GJB2, MT-RNR1
3efemp2-related cutis laxa10.1GJB2, MT-RNR1
4panic disorder 310.0GJB2, SLC26A4
5charcot-marie-tooth disease, type 1d10.0GJB2, SLC26A4
6telangiectasia macularis eruptiva perstans10.0GJB2, TMC1
7bartter syndrome, type 110.0GJB2, SLC26A4
8autosomal dominant nonsyndromic deafness 6910.0GJB2, SLC26A4
9autosomal recessive nonsyndromic deafness 9710.0GJB2, SLC26A4
10deafness, autosomal recessive 2310.0GJB2, SLC26A4
11autoimmune gastrointestinal dysmotility10.0GJB2, MT-RNR1
12fibrochondrogenesis 210.0GJB2, SLC26A4
13obesity susceptibility, adrb3-related10.0GJB2, MT-RNR1, TMC1
14duodenum cancer9.9GJB2, SLC26A4, TMC1
15mitochondrial non-syndromic sensorineural deafness9.9GJB2, SLC26A4, TMC1
16erythrocytosis due to bisphosphoglycerate mutase deficiency9.9GJB2, SLC26A4
17cockayne syndrome9.9GJB2, MT-RNR1, SLC26A4
18dihydrolipoamide dehydrogenase deficiency9.8GJB2, SLC26A4
19cataract 26, multiple types9.8GJB2, MT-RNR1, STT3A, TMC1
20molluscum contagiosum9.7GJB2, MT-RNR1, SLC26A4, TMC1
21omenn syndrome9.7GJB2, MT-RNR1, SLC26A4, TMC1
22narcissistic personality disorder9.7GJB2, MT-RNR1, SLC26A4, TMC1
23x-linked nonsyndromic deafness9.7GJB2, MT-RNR1, SLC26A4, TMC1
24sturge-weber syndrome, somatic, mosaic9.0ACTB, 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

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Symptoms by clinical synopsis from OMIM:

606705

Clinical features from OMIM:

606705

Human phenotypes related to Deafness, Autosomal Dominant 36:

 64
id Description HPO Frequency HPO Source Accession
1 tinnitus64 HP:0000360
2 sensorineural hearing impairment64 HP:0000407

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 36 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053777.7ACTB, GJB2, SLC26A4, TMC1, TMC2

Drugs & Therapeutics for Deafness, Autosomal Dominant 36

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search NIH Clinical Center for Deafness, Autosomal Dominant 36

Genetic Tests for Deafness, Autosomal Dominant 36

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Genetic tests related to Deafness, Autosomal Dominant 36:

id Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 3627

Anatomical Context for Deafness, Autosomal Dominant 36

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

36
Brain

Publications for Deafness, Autosomal Dominant 36

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Variations for Deafness, Autosomal Dominant 36

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

70
id Symbol AA change Variation ID SNP ID
1TMC1p.Asp572AsnVAR_014125rs121908072

Clinvar genetic disease variations for Deafness, Autosomal Dominant 36:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TMC1NM_ 138691.2(TMC1): c.1253T> A (p.Met418Lys)SNVPathogenicrs786201027GRCh38Chr 9, 72791914: 72791914
2TMC1NM_ 138691.2(TMC1): c.1714G> A (p.Asp572Asn)SNVPathogenicrs121908072GRCh37Chr 9, 75431077: 75431077
3TMC1NM_ 138691.2(TMC1): c.1714G> C (p.Asp572His)SNVPathogenicrs121908072GRCh37Chr 9, 75431077: 75431077

Expression for genes affiliated with Deafness, Autosomal Dominant 36

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

Pathways for genes affiliated with Deafness, Autosomal Dominant 36

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GO Terms for genes affiliated with Deafness, Autosomal Dominant 36

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

idNameGO IDScoreTop Affiliating Genes
1stereocilium tipGO:00324269.6TMC1, TMC2

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

idNameGO IDScoreTop Affiliating Genes
1calcium ion transmembrane transportGO:007058810.1TMC1, TMC2
2detection of mechanical stimulus involved in sensory perception of soundGO:005091010.1TMC1, TMC2
3regulation of calcium ion transmembrane transportGO:190316910.1TMC1, TMC2
4vestibular reflexGO:00600059.6TMC1, TMC2
5sensory perception of soundGO:00076059.1GJB2, SLC26A4, TMC1

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

idNameGO IDScoreTop Affiliating Genes
1mechanically-gated ion channel activityGO:000838110.0TMC1, TMC2
2voltage-gated calcium channel activityGO:00052459.6TMC1, TMC2

Sources for Deafness, Autosomal Dominant 36

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet