DFNA65
MCID: DFN278
MIFTS: 19

Deafness, Autosomal Dominant 65 (DFNA65)

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

Aliases & Classifications for Deafness, Autosomal Dominant 65

MalaCards integrated aliases for Deafness, Autosomal Dominant 65:

Name: Deafness, Autosomal Dominant 65 58 30 6 74
Dfna65 58 12 76
Autosomal Dominant Nonsyndromic Deafness 65 12 15
Deafness, Autosomal Dominant, Type 65 41
Deafness, Autosomal Dominant, 65 76
Autosomal Dominant Deafness 65 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
two unrelated families have been reported (last curated october 2014)
onset in late twenties


HPO:

33
deafness, autosomal dominant 65:
Onset and clinical course slow progression
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110586
OMIM 58 616044
MeSH 45 D006319
ICD10 34 H90.3
SNOMED-CT via HPO 70 263681008
UMLS 74 C3892048

Summaries for Deafness, Autosomal Dominant 65

UniProtKB/Swiss-Prot : 76 Deafness, autosomal dominant, 65: 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. DFNA65 is characterized by post-lingual onset of slowly progressive hearing loss in the third decade. Initially affecting the high frequencies, the hearing loss eventually affects all frequencies and results in severe to profound deafness in the seventh decade. Vestibular function is normal.

MalaCards based summary : Deafness, Autosomal Dominant 65, is also known as dfna65. An important gene associated with Deafness, Autosomal Dominant 65 is TBC1D24 (TBC1 Domain Family Member 24). Affiliated tissues include brain, and related phenotype is progressive hearing impairment.

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that has material basis in mutation in the TBC1D24 gene on chromosome 16p13.

OMIM : 58 Autosomal dominant deafness-65 is characterized by postlingual onset of slowly progressive hearing loss in the third decade. Initially affecting the high frequencies, the hearing loss eventually affects all frequencies and results in severe to profound deafness in the seventh decade. Vestibular function is normal (Zhang et al., 2014). (616044)

Related Diseases for Deafness, Autosomal Dominant 65

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
Deafness, Autosomal Recessive 112 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 32 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86 Otof-Related Deafness

Symptoms & Phenotypes for Deafness, Autosomal Dominant 65

Human phenotypes related to Deafness, Autosomal Dominant 65:

33
# Description HPO Frequency HPO Source Accession
1 progressive hearing impairment 33 HP:0001730

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
hearing loss, progressive, (high frequency loss at first progressing to loss of all frequencies)
absent or abnormal otoacoustic emissions

Clinical features from OMIM:

616044

Drugs & Therapeutics for Deafness, Autosomal Dominant 65

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 65

Genetic Tests for Deafness, Autosomal Dominant 65

Genetic tests related to Deafness, Autosomal Dominant 65:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 65 30 TBC1D24

Anatomical Context for Deafness, Autosomal Dominant 65

MalaCards organs/tissues related to Deafness, Autosomal Dominant 65:

42
Brain

Publications for Deafness, Autosomal Dominant 65

Variations for Deafness, Autosomal Dominant 65

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 65:

76
# Symbol AA change Variation ID SNP ID
1 TBC1D24 p.Ser178Leu VAR_072107 rs483352866

ClinVar genetic disease variations for Deafness, Autosomal Dominant 65:

6 (show top 50) (show all 202)
# Gene Variation Type Significance SNP ID Assembly Location
1 TBC1D24 NM_001199107.1(TBC1D24): c.328G> A (p.Gly110Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs747821285 GRCh38 Chromosome 16, 2496476: 2496476
2 TBC1D24 NM_001199107.1(TBC1D24): c.328G> A (p.Gly110Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs747821285 GRCh37 Chromosome 16, 2546477: 2546477
3 TBC1D24 NM_020705.2(TBC1D24): c.22T> C (p.Cys8Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs77585883 GRCh37 Chromosome 16, 2546171: 2546171
4 TBC1D24 NM_020705.2(TBC1D24): c.22T> C (p.Cys8Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs77585883 GRCh38 Chromosome 16, 2496170: 2496170
5 TBC1D24 NM_001199107.1(TBC1D24): c.785C> T (p.Ser262Leu) single nucleotide variant Benign/Likely benign rs201060500 GRCh37 Chromosome 16, 2546934: 2546934
6 TBC1D24 NM_001199107.1(TBC1D24): c.785C> T (p.Ser262Leu) single nucleotide variant Benign/Likely benign rs201060500 GRCh38 Chromosome 16, 2496933: 2496933
7 TBC1D24 NM_001199107.1(TBC1D24): c.169C> T (p.Arg57Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs202162520 GRCh37 Chromosome 16, 2546318: 2546318
8 TBC1D24 NM_001199107.1(TBC1D24): c.169C> T (p.Arg57Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs202162520 GRCh38 Chromosome 16, 2496317: 2496317
9 TBC1D24 NM_001199107.1(TBC1D24): c.178C> T (p.Arg60Trp) single nucleotide variant Uncertain significance rs373914077 GRCh38 Chromosome 16, 2496326: 2496326
10 TBC1D24 NM_001199107.1(TBC1D24): c.178C> T (p.Arg60Trp) single nucleotide variant Uncertain significance rs373914077 GRCh37 Chromosome 16, 2546327: 2546327
11 TBC1D24 NM_001199107.1(TBC1D24): c.179G> A (p.Arg60Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs200226466 GRCh38 Chromosome 16, 2496327: 2496327
12 TBC1D24 NM_001199107.1(TBC1D24): c.179G> A (p.Arg60Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs200226466 GRCh37 Chromosome 16, 2546328: 2546328
13 TBC1D24 NM_001199107.1(TBC1D24): c.344G> A (p.Arg115His) single nucleotide variant Uncertain significance rs201174513 GRCh38 Chromosome 16, 2496492: 2496492
14 TBC1D24 NM_001199107.1(TBC1D24): c.344G> A (p.Arg115His) single nucleotide variant Uncertain significance rs201174513 GRCh37 Chromosome 16, 2546493: 2546493
15 TBC1D24 NM_001199107.1(TBC1D24): c.457G> A (p.Glu153Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs376712059 GRCh38 Chromosome 16, 2496605: 2496605
16 TBC1D24 NM_001199107.1(TBC1D24): c.457G> A (p.Glu153Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs376712059 GRCh37 Chromosome 16, 2546606: 2546606
17 TBC1D24 NM_001199107.1(TBC1D24): c.493G> A (p.Gly165Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs200926225 GRCh38 Chromosome 16, 2496641: 2496641
18 TBC1D24 NM_001199107.1(TBC1D24): c.493G> A (p.Gly165Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs200926225 GRCh37 Chromosome 16, 2546642: 2546642
19 TBC1D24 NM_001199107.1(TBC1D24): c.630G> A (p.Ala210=) single nucleotide variant Benign/Likely benign rs776459372 GRCh38 Chromosome 16, 2496778: 2496778
20 TBC1D24 NM_001199107.1(TBC1D24): c.630G> A (p.Ala210=) single nucleotide variant Benign/Likely benign rs776459372 GRCh37 Chromosome 16, 2546779: 2546779
21 TBC1D24 NM_001199107.1(TBC1D24): c.663C> T (p.Pro221=) single nucleotide variant Benign rs148670169 GRCh38 Chromosome 16, 2496811: 2496811
22 TBC1D24 NM_001199107.1(TBC1D24): c.663C> T (p.Pro221=) single nucleotide variant Benign rs148670169 GRCh37 Chromosome 16, 2546812: 2546812
23 TBC1D24 NM_001199107.1(TBC1D24): c.702G> A (p.Val234=) single nucleotide variant Conflicting interpretations of pathogenicity rs188739853 GRCh37 Chromosome 16, 2546851: 2546851
24 TBC1D24 NM_001199107.1(TBC1D24): c.702G> A (p.Val234=) single nucleotide variant Conflicting interpretations of pathogenicity rs188739853 GRCh38 Chromosome 16, 2496850: 2496850
25 TBC1D24 NM_020705.2(TBC1D24): c.845C> G (p.Pro282Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs747538224 GRCh37 Chromosome 16, 2546994: 2546994
26 TBC1D24 NM_020705.2(TBC1D24): c.845C> G (p.Pro282Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs747538224 GRCh38 Chromosome 16, 2496993: 2496993
27 TBC1D24 NM_001199107.1(TBC1D24): c.871G> A (p.Ala291Thr) single nucleotide variant Uncertain significance rs375307187 GRCh38 Chromosome 16, 2497019: 2497019
28 TBC1D24 NM_001199107.1(TBC1D24): c.871G> A (p.Ala291Thr) single nucleotide variant Uncertain significance rs375307187 GRCh37 Chromosome 16, 2547020: 2547020
29 TBC1D24 NM_001199107.1(TBC1D24): c.878G> A (p.Arg293His) single nucleotide variant Uncertain significance rs199700840 GRCh37 Chromosome 16, 2547027: 2547027
30 TBC1D24 NM_001199107.1(TBC1D24): c.878G> A (p.Arg293His) single nucleotide variant Uncertain significance rs199700840 GRCh38 Chromosome 16, 2497026: 2497026
31 TBC1D24 NM_001199107.1(TBC1D24): c.951C> T (p.Thr317=) single nucleotide variant Conflicting interpretations of pathogenicity rs766745103 GRCh38 Chromosome 16, 2497099: 2497099
32 TBC1D24 NM_001199107.1(TBC1D24): c.951C> T (p.Thr317=) single nucleotide variant Conflicting interpretations of pathogenicity rs766745103 GRCh37 Chromosome 16, 2547100: 2547100
33 TBC1D24 NM_001199107.1(TBC1D24): c.1028A> C (p.Glu343Ala) single nucleotide variant Uncertain significance rs188124777 GRCh38 Chromosome 16, 2498282: 2498282
34 TBC1D24 NM_001199107.1(TBC1D24): c.1028A> C (p.Glu343Ala) single nucleotide variant Uncertain significance rs188124777 GRCh37 Chromosome 16, 2548283: 2548283
35 TBC1D24 NM_001199107.1(TBC1D24): c.1473C> G (p.Pro491=) single nucleotide variant Conflicting interpretations of pathogenicity rs370427146 GRCh38 Chromosome 16, 2500438: 2500438
36 TBC1D24 NM_001199107.1(TBC1D24): c.1473C> G (p.Pro491=) single nucleotide variant Conflicting interpretations of pathogenicity rs370427146 GRCh37 Chromosome 16, 2550439: 2550439
37 TBC1D24 NM_001199107.1(TBC1D24): c.1327G> A (p.Glu443Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs141399869 GRCh38 Chromosome 16, 2500292: 2500292
38 TBC1D24 NM_001199107.1(TBC1D24): c.1327G> A (p.Glu443Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs141399869 GRCh37 Chromosome 16, 2550293: 2550293
39 TBC1D24 NM_020705.2(TBC1D24): c.1008G> A (p.Ser336=) single nucleotide variant Conflicting interpretations of pathogenicity rs370244846 GRCh37 Chromosome 16, 2548281: 2548281
40 TBC1D24 NM_020705.2(TBC1D24): c.1008G> A (p.Ser336=) single nucleotide variant Conflicting interpretations of pathogenicity rs370244846 GRCh38 Chromosome 16, 2498280: 2498280
41 TBC1D24 NM_001199107.1(TBC1D24): c.1544C> T (p.Ala515Val) single nucleotide variant Uncertain significance rs267607105 GRCh37 Chromosome 16, 2550823: 2550823
42 TBC1D24 NM_001199107.1(TBC1D24): c.1544C> T (p.Ala515Val) single nucleotide variant Uncertain significance rs267607105 GRCh38 Chromosome 16, 2500822: 2500822
43 TBC1D24 NM_001199107.1(TBC1D24): c.724C> T (p.Arg242Cys) single nucleotide variant Pathogenic/Likely pathogenic rs398122965 GRCh37 Chromosome 16, 2546873: 2546873
44 TBC1D24 NM_001199107.1(TBC1D24): c.724C> T (p.Arg242Cys) single nucleotide variant Pathogenic/Likely pathogenic rs398122965 GRCh38 Chromosome 16, 2496872: 2496872
45 TBC1D24 NM_001199107.1(TBC1D24): c.1008delT (p.His336Glnfs) deletion Pathogenic rs398122967 GRCh37 Chromosome 16, 2548263: 2548263
46 TBC1D24 NM_001199107.1(TBC1D24): c.1008delT (p.His336Glnfs) deletion Pathogenic rs398122967 GRCh38 Chromosome 16, 2498262: 2498262
47 TBC1D24 NM_020705.2(TBC1D24): c.1125-6C> T single nucleotide variant Benign/Likely benign rs73490287 GRCh37 Chromosome 16, 2549352: 2549352
48 TBC1D24 NM_020705.2(TBC1D24): c.1125-6C> T single nucleotide variant Benign/Likely benign rs73490287 GRCh38 Chromosome 16, 2499351: 2499351
49 TBC1D24 NM_020705.2(TBC1D24): c.1308C> T (p.Tyr436=) single nucleotide variant Conflicting interpretations of pathogenicity rs184639841 GRCh37 Chromosome 16, 2550292: 2550292
50 TBC1D24 NM_020705.2(TBC1D24): c.1308C> T (p.Tyr436=) single nucleotide variant Conflicting interpretations of pathogenicity rs184639841 GRCh38 Chromosome 16, 2500291: 2500291

Expression for Deafness, Autosomal Dominant 65

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Pathways for Deafness, Autosomal Dominant 65

GO Terms for Deafness, Autosomal Dominant 65

Sources for Deafness, Autosomal Dominant 65

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