DFNA65
MCID: DFN278
MIFTS: 25

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 57 29 6 72
Dfna65 57 12 74
Autosomal Dominant Nonsyndromic Deafness 65 12 15
Deafness, Autosomal Dominant, Type 65 40
Deafness, Autosomal Dominant, 65 74
Autosomal Dominant Deafness 65 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
deafness, autosomal dominant 65:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


Classifications:



External Ids:

Disease Ontology 12 DOID:0110586
MeSH 44 D006319
ICD10 33 H90.3
UMLS 72 C3892048

Summaries for Deafness, Autosomal Dominant 65

UniProtKB/Swiss-Prot : 74 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 : 57 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 Rare 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 Deafness, Autosomal Recessive 113
Deafness, Autosomal Recessive 100 Deafness, Autosomal Recessive 94
Deafness, Autosomal Recessive 114 Deafness, Autosomal Recessive 115
Deafness, Autosomal Recessive 99 Deafness, Autosomal Dominant 37
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 Familial Deafness

Symptoms & Phenotypes for Deafness, Autosomal Dominant 65

Human phenotypes related to Deafness, Autosomal Dominant 65:

32
# Description HPO Frequency HPO Source Accession
1 progressive hearing impairment 32 HP:0001730

Symptoms via clinical synopsis from OMIM:

57
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 29 TBC1D24

Anatomical Context for Deafness, Autosomal Dominant 65

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

41
Brain

Publications for Deafness, Autosomal Dominant 65

Articles related to Deafness, Autosomal Dominant 65:

# Title Authors PMID Year
1
TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. 8 71
24729539 2014
2
A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment. 8 71
24729547 2014
3
TBC1D24-Related Disorders 38 71
25719194 2015
4
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 71
24651602 2014
5
Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees. 38
26371875 2015

Variations for Deafness, Autosomal Dominant 65

ClinVar genetic disease variations for Deafness, Autosomal Dominant 65:

6 (show top 50) (show all 130)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TBC1D24 NC_000016.9: g.(?_2546130)_(2550979_?)del deletion Pathogenic 16:2546130-2550979 16:2496129-2500978
2 TBC1D24 NM_001199107.2(TBC1D24): c.121C> T (p.Gln41Ter) single nucleotide variant Pathogenic rs1057524191 16:2546270-2546270 16:2496269-2496269
3 TBC1D24 NM_001199107.2(TBC1D24): c.172del (p.Arg57_Leu58insTer) deletion Pathogenic rs1555501140 16:2546321-2546321 16:2496320-2496320
4 TBC1D24 NM_001199107.2(TBC1D24): c.1008del (p.His336fs) deletion Pathogenic rs398122967 16:2548263-2548263 16:2498262-2498262
5 TBC1D24 NM_001199107.2(TBC1D24): c.533C> T (p.Ser178Leu) single nucleotide variant Pathogenic rs483352866 16:2546682-2546682 16:2496681-2496681
6 TBC1D24 NM_001199107.2(TBC1D24): c.346A> T (p.Lys116Ter) single nucleotide variant Pathogenic 16:2546495-2546495 16:2496494-2496494
7 TBC1D24 NM_001199107.2(TBC1D24): c.1131C> G (p.Tyr377Ter) single nucleotide variant Pathogenic 16:2548386-2548386 16:2498385-2498385
8 TBC1D24 NM_001199107.2(TBC1D24): c.724C> T (p.Arg242Cys) single nucleotide variant Pathogenic/Likely pathogenic rs398122965 16:2546873-2546873 16:2496872-2496872
9 TBC1D24 NM_001199107.2(TBC1D24): c.919A> C (p.Asn307His) single nucleotide variant Likely pathogenic rs1555501320 16:2547068-2547068 16:2497067-2497067
10 TBC1D24 NM_001199107.2(TBC1D24): c.983+2T> C single nucleotide variant Likely pathogenic 16:2547730-2547730 16:2497729-2497729
11 TBC1D24 NM_001199107.2(TBC1D24): c.1196C> T (p.Thr399Met) single nucleotide variant Conflicting interpretations of pathogenicity rs61731477 16:2549411-2549411 16:2499410-2499410
12 TBC1D24 NM_001199107.2(TBC1D24): c.1525+6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs758013935 16:2550497-2550497 16:2500496-2500496
13 TBC1D24 NM_001199107.2(TBC1D24): c.457G> A (p.Glu153Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs376712059 16:2546606-2546606 16:2496605-2496605
14 TBC1D24 NM_001199107.2(TBC1D24): c.493G> A (p.Gly165Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs200926225 16:2546642-2546642 16:2496641-2496641
15 TBC1D24 NM_001199107.2(TBC1D24): c.702G> A (p.Val234=) single nucleotide variant Conflicting interpretations of pathogenicity rs188739853 16:2546851-2546851 16:2496850-2496850
16 TBC1D24 NM_001199107.2(TBC1D24): c.845C> G (p.Pro282Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs747538224 16:2546994-2546994 16:2496993-2496993
17 TBC1D24 NM_001199107.2(TBC1D24): c.1473C> G (p.Pro491=) single nucleotide variant Conflicting interpretations of pathogenicity rs370427146 16:2550439-2550439 16:2500438-2500438
18 TBC1D24 NM_001199107.2(TBC1D24): c.1327G> A (p.Glu443Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs141399869 16:2550293-2550293 16:2500292-2500292
19 TBC1D24 NM_001199107.2(TBC1D24): c.1026G> A (p.Ser342=) single nucleotide variant Conflicting interpretations of pathogenicity rs370244846 16:2548281-2548281 16:2498280-2498280
20 TBC1D24 NM_001199107.2(TBC1D24): c.951C> T (p.Thr317=) single nucleotide variant Conflicting interpretations of pathogenicity rs766745103 16:2547100-2547100 16:2497099-2497099
21 TBC1D24 NM_001199107.2(TBC1D24): c.1467C> T (p.Asn489=) single nucleotide variant Conflicting interpretations of pathogenicity rs779963634 16:2550433-2550433 16:2500432-2500432
22 TBC1D24 NM_001199107.2(TBC1D24): c.679C> T (p.Arg227Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs748302886 16:2546828-2546828 16:2496827-2496827
23 TBC1D24 NM_001199107.2(TBC1D24): c.1642G> A (p.Val548Met) single nucleotide variant Conflicting interpretations of pathogenicity rs201649140 16:2550921-2550921 16:2500920-2500920
24 TBC1D24 NM_001199107.2(TBC1D24): c.1620C> T (p.Ser540=) single nucleotide variant Conflicting interpretations of pathogenicity rs781723084 16:2550899-2550899 16:2500898-2500898
25 TBC1D24 NM_001199107.2(TBC1D24): c.1641C> A (p.Ala547=) single nucleotide variant Conflicting interpretations of pathogenicity rs553215090 16:2550920-2550920 16:2500919-2500919
26 TBC1D24 NM_001199107.2(TBC1D24): c.1499C> T (p.Ala500Val) single nucleotide variant Conflicting interpretations of pathogenicity rs564477999 16:2550465-2550465 16:2500464-2500464
27 TBC1D24 NM_001199107.2(TBC1D24): c.641G> A (p.Arg214His) single nucleotide variant Conflicting interpretations of pathogenicity rs200324356 16:2546790-2546790 16:2496789-2496789
28 TBC1D24 NM_001199107.2(TBC1D24): c.204G> A (p.Thr68=) single nucleotide variant Conflicting interpretations of pathogenicity rs201374999 16:2546353-2546353 16:2496352-2496352
29 TBC1D24 NM_001199107.2(TBC1D24): c.1002C> T (p.Ala334=) single nucleotide variant Conflicting interpretations of pathogenicity rs184389316 16:2548257-2548257 16:2498256-2498256
30 TBC1D24 NM_001199107.2(TBC1D24): c.1074C> T (p.Pro358=) single nucleotide variant Conflicting interpretations of pathogenicity rs75961715 16:2548329-2548329 16:2498328-2498328
31 TBC1D24 NM_001199107.2(TBC1D24): c.328G> A (p.Gly110Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs747821285 16:2546477-2546477 16:2496476-2496476
32 TBC1D24 NM_001199107.2(TBC1D24): c.22T> C (p.Cys8Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs77585883 16:2546171-2546171 16:2496170-2496170
33 TBC1D24 NM_001199107.2(TBC1D24): c.169C> T (p.Arg57Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs202162520 16:2546318-2546318 16:2496317-2496317
34 TBC1D24 NM_001199107.2(TBC1D24): c.179G> A (p.Arg60Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs200226466 16:2546328-2546328 16:2496327-2496327
35 TBC1D24 NM_001199107.2(TBC1D24): c.1326C> T (p.Tyr442=) single nucleotide variant Conflicting interpretations of pathogenicity rs184639841 16:2550292-2550292 16:2500291-2500291
36 TBC1D24 NM_001199107.2(TBC1D24): c.1590C> G (p.Cys530Trp) single nucleotide variant Uncertain significance rs1060502501 16:2550869-2550869 16:2500868-2500868
37 TBC1D24 NM_001199107.2(TBC1D24): c.1544C> T (p.Ala515Val) single nucleotide variant Uncertain significance rs267607105 16:2550823-2550823 16:2500822-2500822
38 TBC1D24 NM_001199107.2(TBC1D24): c.587A> G (p.Lys196Arg) single nucleotide variant Uncertain significance rs758299397 16:2546736-2546736 16:2496735-2496735
39 TBC1D24 NM_001199107.2(TBC1D24): c.807C> G (p.Ile269Met) single nucleotide variant Uncertain significance rs762576413 16:2546956-2546956 16:2496955-2496955
40 TBC1D24 NM_001199107.2(TBC1D24): c.1049T> C (p.Met350Thr) single nucleotide variant Uncertain significance rs1475264921 16:2548304-2548304 16:2498303-2498303
41 TBC1D24 NM_001199107.2(TBC1D24): c.244G> T (p.Val82Leu) single nucleotide variant Uncertain significance rs747915584 16:2546393-2546393 16:2496392-2496392
42 TBC1D24 NM_001199107.2(TBC1D24): c.344G> A (p.Arg115His) single nucleotide variant Uncertain significance rs201174513 16:2546493-2546493 16:2496492-2496492
43 TBC1D24 NM_001199107.2(TBC1D24): c.178C> T (p.Arg60Trp) single nucleotide variant Uncertain significance rs373914077 16:2546327-2546327 16:2496326-2496326
44 TBC1D24 NM_001199107.2(TBC1D24): c.1015A> G (p.Asn339Asp) single nucleotide variant Uncertain significance rs574768683 16:2548270-2548270 16:2498269-2498269
45 TBC1D24 NM_001199107.2(TBC1D24): c.1411G> A (p.Ala471Thr) single nucleotide variant Uncertain significance rs377448015 16:2550377-2550377 16:2500376-2500376
46 TBC1D24 NM_001199107.2(TBC1D24): c.1525G> A (p.Gly509Arg) single nucleotide variant Uncertain significance rs749994791 16:2550491-2550491 16:2500490-2500490
47 TBC1D24 NM_001199107.2(TBC1D24): c.325C> G (p.Arg109Gly) single nucleotide variant Uncertain significance rs372337277 16:2546474-2546474 16:2496473-2496473
48 TBC1D24 NM_001199107.2(TBC1D24): c.556C> G (p.Leu186Val) single nucleotide variant Uncertain significance rs1555501245 16:2546705-2546705 16:2496704-2496704
49 TBC1D24 NM_001199107.2(TBC1D24): c.727G> A (p.Val243Met) single nucleotide variant Uncertain significance rs762660491 16:2546876-2546876 16:2496875-2496875
50 TBC1D24 NM_001199107.2(TBC1D24): c.1577G> A (p.Arg526His) single nucleotide variant Uncertain significance rs752301570 16:2550856-2550856 16:2500855-2500855

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

74
# Symbol AA change Variation ID SNP ID
1 TBC1D24 p.Ser178Leu VAR_072107 rs483352866

Expression for Deafness, Autosomal Dominant 65

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 65.

Pathways for Deafness, Autosomal Dominant 65

GO Terms for Deafness, Autosomal Dominant 65

Sources for Deafness, Autosomal Dominant 65

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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28 GO
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30 HGMD
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36 IUPHAR
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51 NDF-RT
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64 QIAGEN
69 SNOMED-CT via HPO
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