MCID: DFN278
MIFTS: 23

Deafness, Autosomal Dominant 65

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

Aliases & Classifications for Deafness, Autosomal Dominant 65

MalaCards integrated aliases for Deafness, Autosomal Dominant 65:

Name: Deafness, Autosomal Dominant 65 57 29 6 73
Dfna65 57 12 75
Autosomal Dominant Nonsyndromic Deafness 65 12 15
Deafness, Autosomal Dominant, Type 65 40
Deafness, Autosomal Dominant, 65 75
Autosomal Dominant Deafness 65 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:



External Ids:

OMIM 57 616044
Disease Ontology 12 DOID:0110586
ICD10 33 H90.3
MeSH 44 D006319
SNOMED-CT via HPO 69 263681008
UMLS 73 C3892048

Summaries for Deafness, Autosomal Dominant 65

UniProtKB/Swiss-Prot : 75 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, also known as dfna65, is related to autosomal recessive nonsyndromic deafness 86 and coffin-siris syndrome 1. 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 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 Deafness, Autosomal Recessive 57
Deafness, Autosomal Recessive 109 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 36 Autosomal Recessive Nonsyndromic Deafness 86
Otof-Related Deafness

Diseases related to Deafness, Autosomal Dominant 65 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal recessive nonsyndromic deafness 86 9.3 ENSG00000260272 TBC1D24
2 coffin-siris syndrome 1 9.2 ENSG00000260272 TBC1D24
3 nonsyndromic deafness 9.0 ENSG00000260272 TBC1D24

Symptoms & Phenotypes for Deafness, Autosomal Dominant 65

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

Human phenotypes related to Deafness, Autosomal Dominant 65:

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

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

Variations for Deafness, Autosomal Dominant 65

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

75
# 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 132)
# Gene Variation Type Significance SNP ID Assembly Location
1 TBC1D24 NM_001199107.1(TBC1D24): c.724C> T (p.Arg242Cys) single nucleotide variant Pathogenic/Likely pathogenic rs398122965 GRCh37 Chromosome 16, 2546873: 2546873
2 TBC1D24 NM_001199107.1(TBC1D24): c.724C> T (p.Arg242Cys) single nucleotide variant Pathogenic/Likely pathogenic rs398122965 GRCh38 Chromosome 16, 2496872: 2496872
3 TBC1D24 NM_001199107.1(TBC1D24): c.1008delT (p.His336Glnfs) deletion Pathogenic rs398122967 GRCh37 Chromosome 16, 2548263: 2548263
4 TBC1D24 NM_001199107.1(TBC1D24): c.1008delT (p.His336Glnfs) deletion Pathogenic rs398122967 GRCh38 Chromosome 16, 2498262: 2498262
5 TBC1D24 NM_001199107.1(TBC1D24): c.533C> T (p.Ser178Leu) single nucleotide variant Pathogenic rs483352866 GRCh38 Chromosome 16, 2496681: 2496681
6 TBC1D24 NM_001199107.1(TBC1D24): c.533C> T (p.Ser178Leu) single nucleotide variant Pathogenic rs483352866 GRCh37 Chromosome 16, 2546682: 2546682
7 TBC1D24 NM_001199107.1(TBC1D24): c.328G> A (p.Gly110Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs747821285 GRCh38 Chromosome 16, 2496476: 2496476
8 TBC1D24 NM_001199107.1(TBC1D24): c.328G> A (p.Gly110Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs747821285 GRCh37 Chromosome 16, 2546477: 2546477
9 TBC1D24 NM_020705.2(TBC1D24): c.22T> C (p.Cys8Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs77585883 GRCh37 Chromosome 16, 2546171: 2546171
10 TBC1D24 NM_020705.2(TBC1D24): c.22T> C (p.Cys8Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs77585883 GRCh38 Chromosome 16, 2496170: 2496170
11 TBC1D24 NM_001199107.1(TBC1D24): c.785C> T (p.Ser262Leu) single nucleotide variant Benign/Likely benign rs201060500 GRCh37 Chromosome 16, 2546934: 2546934
12 TBC1D24 NM_001199107.1(TBC1D24): c.785C> T (p.Ser262Leu) single nucleotide variant Benign/Likely benign rs201060500 GRCh38 Chromosome 16, 2496933: 2496933
13 TBC1D24 NM_001199107.1(TBC1D24): c.169C> T (p.Arg57Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs202162520 GRCh37 Chromosome 16, 2546318: 2546318
14 TBC1D24 NM_001199107.1(TBC1D24): c.169C> T (p.Arg57Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs202162520 GRCh38 Chromosome 16, 2496317: 2496317
15 TBC1D24 NM_001199107.1(TBC1D24): c.179G> A (p.Arg60Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs200226466 GRCh38 Chromosome 16, 2496327: 2496327
16 TBC1D24 NM_001199107.1(TBC1D24): c.179G> A (p.Arg60Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs200226466 GRCh37 Chromosome 16, 2546328: 2546328
17 TBC1D24 NM_001199107.1(TBC1D24): c.344G> A (p.Arg115His) single nucleotide variant Uncertain significance rs201174513 GRCh38 Chromosome 16, 2496492: 2496492
18 TBC1D24 NM_001199107.1(TBC1D24): c.344G> A (p.Arg115His) single nucleotide variant Uncertain significance rs201174513 GRCh37 Chromosome 16, 2546493: 2546493
19 TBC1D24 NM_001199107.1(TBC1D24): c.457G> A (p.Glu153Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs376712059 GRCh38 Chromosome 16, 2496605: 2496605
20 TBC1D24 NM_001199107.1(TBC1D24): c.457G> A (p.Glu153Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs376712059 GRCh37 Chromosome 16, 2546606: 2546606
21 TBC1D24 NM_001199107.1(TBC1D24): c.493G> A (p.Gly165Ser) single nucleotide variant Benign/Likely benign rs200926225 GRCh38 Chromosome 16, 2496641: 2496641
22 TBC1D24 NM_001199107.1(TBC1D24): c.493G> A (p.Gly165Ser) single nucleotide variant Benign/Likely benign rs200926225 GRCh37 Chromosome 16, 2546642: 2546642
23 TBC1D24 NM_001199107.1(TBC1D24): c.630G> A (p.Ala210=) single nucleotide variant Benign/Likely benign rs776459372 GRCh38 Chromosome 16, 2496778: 2496778
24 TBC1D24 NM_001199107.1(TBC1D24): c.630G> A (p.Ala210=) single nucleotide variant Benign/Likely benign rs776459372 GRCh37 Chromosome 16, 2546779: 2546779
25 TBC1D24 NM_001199107.1(TBC1D24): c.663C> T (p.Pro221=) single nucleotide variant Benign rs148670169 GRCh38 Chromosome 16, 2496811: 2496811
26 TBC1D24 NM_001199107.1(TBC1D24): c.663C> T (p.Pro221=) single nucleotide variant Benign rs148670169 GRCh37 Chromosome 16, 2546812: 2546812
27 TBC1D24 NM_001199107.1(TBC1D24): c.702G> A (p.Val234=) single nucleotide variant Conflicting interpretations of pathogenicity rs188739853 GRCh37 Chromosome 16, 2546851: 2546851
28 TBC1D24 NM_001199107.1(TBC1D24): c.702G> A (p.Val234=) single nucleotide variant Conflicting interpretations of pathogenicity rs188739853 GRCh38 Chromosome 16, 2496850: 2496850
29 TBC1D24 NM_020705.2(TBC1D24): c.845C> G (p.Pro282Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs747538224 GRCh37 Chromosome 16, 2546994: 2546994
30 TBC1D24 NM_020705.2(TBC1D24): c.845C> G (p.Pro282Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs747538224 GRCh38 Chromosome 16, 2496993: 2496993
31 TBC1D24 NM_001199107.1(TBC1D24): c.878G> A (p.Arg293His) single nucleotide variant Uncertain significance rs199700840 GRCh37 Chromosome 16, 2547027: 2547027
32 TBC1D24 NM_001199107.1(TBC1D24): c.878G> A (p.Arg293His) single nucleotide variant Uncertain significance rs199700840 GRCh38 Chromosome 16, 2497026: 2497026
33 TBC1D24 NM_001199107.1(TBC1D24): c.951C> T (p.Thr317=) single nucleotide variant Conflicting interpretations of pathogenicity rs766745103 GRCh38 Chromosome 16, 2497099: 2497099
34 TBC1D24 NM_001199107.1(TBC1D24): c.951C> T (p.Thr317=) single nucleotide variant Conflicting interpretations of pathogenicity rs766745103 GRCh37 Chromosome 16, 2547100: 2547100
35 TBC1D24 NM_001199107.1(TBC1D24): c.1028A> C (p.Glu343Ala) single nucleotide variant Uncertain significance rs188124777 GRCh38 Chromosome 16, 2498282: 2498282
36 TBC1D24 NM_001199107.1(TBC1D24): c.1028A> C (p.Glu343Ala) single nucleotide variant Uncertain significance rs188124777 GRCh37 Chromosome 16, 2548283: 2548283
37 TBC1D24 NM_001199107.1(TBC1D24): c.1473C> G (p.Pro491=) single nucleotide variant Benign rs370427146 GRCh38 Chromosome 16, 2500438: 2500438
38 TBC1D24 NM_001199107.1(TBC1D24): c.1473C> G (p.Pro491=) single nucleotide variant Benign rs370427146 GRCh37 Chromosome 16, 2550439: 2550439
39 TBC1D24 NM_001199107.1(TBC1D24): c.1327G> A (p.Glu443Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs141399869 GRCh38 Chromosome 16, 2500292: 2500292
40 TBC1D24 NM_001199107.1(TBC1D24): c.1327G> A (p.Glu443Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs141399869 GRCh37 Chromosome 16, 2550293: 2550293
41 TBC1D24 NM_020705.2(TBC1D24): c.1008G> A (p.Ser336=) single nucleotide variant Conflicting interpretations of pathogenicity rs370244846 GRCh37 Chromosome 16, 2548281: 2548281
42 TBC1D24 NM_020705.2(TBC1D24): c.1008G> A (p.Ser336=) single nucleotide variant Conflicting interpretations of pathogenicity rs370244846 GRCh38 Chromosome 16, 2498280: 2498280
43 TBC1D24 NM_001199107.1(TBC1D24): c.213C> T (p.Ala71=) single nucleotide variant Likely benign rs778212970 GRCh38 Chromosome 16, 2496361: 2496361
44 TBC1D24 NM_001199107.1(TBC1D24): c.213C> T (p.Ala71=) single nucleotide variant Likely benign rs778212970 GRCh37 Chromosome 16, 2546362: 2546362
45 TBC1D24 NM_001199107.1(TBC1D24): c.327C> T (p.Arg109=) single nucleotide variant Likely benign rs754551693 GRCh38 Chromosome 16, 2496475: 2496475
46 TBC1D24 NM_001199107.1(TBC1D24): c.327C> T (p.Arg109=) single nucleotide variant Likely benign rs754551693 GRCh37 Chromosome 16, 2546476: 2546476
47 TBC1D24 NM_020705.2(TBC1D24): c.1449C> T (p.Asn483=) single nucleotide variant Conflicting interpretations of pathogenicity rs779963634 GRCh38 Chromosome 16, 2500432: 2500432
48 TBC1D24 NM_020705.2(TBC1D24): c.1449C> T (p.Asn483=) single nucleotide variant Conflicting interpretations of pathogenicity rs779963634 GRCh37 Chromosome 16, 2550433: 2550433
49 TBC1D24 NM_001199107.1(TBC1D24): c.192C> T (p.Cys64=) single nucleotide variant Likely benign rs878854271 GRCh37 Chromosome 16, 2546341: 2546341
50 TBC1D24 NM_001199107.1(TBC1D24): c.192C> T (p.Cys64=) single nucleotide variant Likely benign rs878854271 GRCh38 Chromosome 16, 2496340: 2496340

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

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