DFNA65
MCID: DFN278
MIFTS: 29

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 56 29 6 71
Dfna65 56 12 73
Autosomal Dominant Nonsyndromic Deafness 65 12 15
Deafness, Autosomal Dominant, Type 65 39
Deafness, Autosomal Dominant, 65 73
Autosomal Dominant Deafness 65 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
deafness, autosomal dominant 65:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


Classifications:



External Ids:

Disease Ontology 12 DOID:0110586
OMIM 56 616044
OMIM Phenotypic Series 56 PS124900
MeSH 43 D006319
ICD10 32 H90.3
SNOMED-CT via HPO 68 263681008
UMLS 71 C3892048

Summaries for Deafness, Autosomal Dominant 65

UniProtKB/Swiss-Prot : 73 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 deafness, autosomal recessive 86 and spondyloepimetaphyseal dysplasia, missouri type. An important gene associated with Deafness, Autosomal Dominant 65 is TBC1D24 (TBC1 Domain Family Member 24), and among its related pathways/superpathways is G-protein signaling G-Protein alpha-i signaling cascades. 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 : 56 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 Otof-Related Deafness
Familial 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 deafness, autosomal recessive 86 9.4 USP6 TBC1D24 CDC16
2 spondyloepimetaphyseal dysplasia, missouri type 9.2 RAP2B ARF3
3 epileptic encephalopathy, early infantile, 16 9.0 USP6 TBC1D24 CDC16 AGFG1

Symptoms & Phenotypes for Deafness, Autosomal Dominant 65

Human phenotypes related to Deafness, Autosomal Dominant 65:

31
# Description HPO Frequency HPO Source Accession
1 progressive hearing impairment 31 HP:0001730

Symptoms via clinical synopsis from OMIM:

56
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:

40
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. 56 6
24729539 2014
2
A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment. 56 6
24729547 2014
3
TBC1D24-Related Disorders 61 6
25719194 2015
4
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 6
24651602 2014
5
Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees. 61
26371875 2015

Variations for Deafness, Autosomal Dominant 65

ClinVar genetic disease variations for Deafness, Autosomal Dominant 65:

6 (show top 50) (show all 95) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TBC1D24 NM_001199107.2(TBC1D24):c.1008del (p.His336fs)deletion Pathogenic 91398 rs398122967 16:2548263-2548263 16:2498262-2498262
2 TBC1D24 NM_001199107.2(TBC1D24):c.533C>T (p.Ser178Leu)SNV Pathogenic 133246 rs483352866 16:2546682-2546682 16:2496681-2496681
3 TBC1D24 NM_001199107.2(TBC1D24):c.121C>T (p.Gln41Ter)SNV Pathogenic 391687 rs1057524191 16:2546270-2546270 16:2496269-2496269
4 TBC1D24 NC_000016.9:g.(?_2546130)_(2550979_?)deldeletion Pathogenic 474299 16:2546130-2550979 16:2496129-2500978
5 TBC1D24 NM_001199107.2(TBC1D24):c.172del (p.Arg57_Leu58insTer)deletion Pathogenic 541316 rs1555501140 16:2546320-2546320 16:2496319-2496319
6 TBC1D24 NM_001199107.2(TBC1D24):c.1131C>G (p.Tyr377Ter)SNV Pathogenic 569501 rs1567413218 16:2548386-2548386 16:2498385-2498385
7 TBC1D24 NM_001199107.2(TBC1D24):c.346A>T (p.Lys116Ter)SNV Pathogenic 587507 rs1567411469 16:2546495-2546495 16:2496494-2496494
8 TBC1D24 NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys)SNV Pathogenic/Likely pathogenic 91395 rs398122965 16:2546873-2546873 16:2496872-2496872
9 TBC1D24 NM_001199107.2(TBC1D24):c.919A>C (p.Asn307His)SNV Likely pathogenic 425556 rs1555501320 16:2547068-2547068 16:2497067-2497067
10 TBC1D24 NM_001199107.2(TBC1D24):c.983+2T>CSNV Likely pathogenic 658011 16:2547730-2547730 16:2497729-2497729
11 TBC1D24 NM_001199107.2(TBC1D24):c.759G>A (p.Lys253=)SNV Conflicting interpretations of pathogenicity 659552 16:2546908-2546908 16:2496907-2496907
12 TBC1D24 NM_001199107.2(TBC1D24):c.679C>T (p.Arg227Trp)SNV Conflicting interpretations of pathogenicity 429630 rs748302886 16:2546828-2546828 16:2496827-2496827
13 TBC1D24 NM_001199107.2(TBC1D24):c.1499C>T (p.Ala500Val)SNV Conflicting interpretations of pathogenicity 419296 rs564477999 16:2550465-2550465 16:2500464-2500464
14 TBC1D24 NM_001199107.2(TBC1D24):c.1620C>T (p.Ser540=)SNV Conflicting interpretations of pathogenicity 378708 rs781723084 16:2550899-2550899 16:2500898-2500898
15 TBC1D24 NM_001199107.2(TBC1D24):c.1641C>A (p.Ala547=)SNV Conflicting interpretations of pathogenicity 379484 rs553215090 16:2550920-2550920 16:2500919-2500919
16 TBC1D24 NM_001199107.2(TBC1D24):c.1525+6C>TSNV Conflicting interpretations of pathogenicity 287520 rs758013935 16:2550497-2550497 16:2500496-2500496
17 TBC1D24 NM_001199107.2(TBC1D24):c.328G>A (p.Gly110Ser)SNV Conflicting interpretations of pathogenicity 183154 rs747821285 16:2546477-2546477 16:2496476-2496476
18 TBC1D24 NM_001199107.2(TBC1D24):c.179G>A (p.Arg60Gln)SNV Conflicting interpretations of pathogenicity 207518 rs200226466 16:2546328-2546328 16:2496327-2496327
19 TBC1D24 NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys)SNV Conflicting interpretations of pathogenicity 207499 rs376712059 16:2546606-2546606 16:2496605-2496605
20 TBC1D24 NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg)SNV Conflicting interpretations of pathogenicity 207505 rs747538224 16:2546994-2546994 16:2496993-2496993
21 TBC1D24 NM_001199107.2(TBC1D24):c.871G>A (p.Ala291Thr)SNV Uncertain significance 207506 rs375307187 16:2547020-2547020 16:2497019-2497019
22 TBC1D24 NM_001199107.2(TBC1D24):c.878G>A (p.Arg293His)SNV Uncertain significance 207519 rs199700840 16:2547027-2547027 16:2497026-2497026
23 TBC1D24 NM_001199107.2(TBC1D24):c.1028A>C (p.Glu343Ala)SNV Uncertain significance 207511 rs188124777 16:2548283-2548283 16:2498282-2498282
24 TBC1D24 NM_001199107.2(TBC1D24):c.244G>T (p.Val82Leu)SNV Uncertain significance 207494 16:2546393-2546393 16:2496392-2496392
25 TBC1D24 NM_001199107.2(TBC1D24):c.344G>A (p.Arg115His)SNV Uncertain significance 207497 rs201174513 16:2546493-2546493 16:2496492-2496492
26 TBC1D24 NM_001199107.2(TBC1D24):c.178C>T (p.Arg60Trp)SNV Uncertain significance 207517 rs373914077 16:2546327-2546327 16:2496326-2496326
27 TBC1D24 NM_001199107.2(TBC1D24):c.793G>A (p.Val265Met)SNV Uncertain significance 318615 rs772768393 16:2546942-2546942 16:2496941-2496941
28 TBC1D24 NM_001199107.2(TBC1D24):c.404C>T (p.Pro135Leu)SNV Uncertain significance 375708 rs1057519630 16:2546553-2546553 16:2496552-2496552
29 TBC1D24 NM_001199107.2(TBC1D24):c.439G>A (p.Asp147Asn)SNV Uncertain significance 229287 rs267607103 16:2546588-2546588 16:2496587-2496587
30 TBC1D24 NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val)SNV Uncertain significance 49 rs267607105 16:2550823-2550823 16:2500822-2500822
31 TBC1D24 NM_001199107.2(TBC1D24):c.1015A>G (p.Asn339Asp)SNV Uncertain significance 130541 rs574768683 16:2548270-2548270 16:2498269-2498269
32 TBC1D24 NM_001199107.2(TBC1D24):c.1022G>A (p.Arg341His)SNV Uncertain significance 380328 rs754727069 16:2548277-2548277 16:2498276-2498276
33 TBC1D24 NM_001199107.2(TBC1D24):c.405G>A (p.Pro135=)SNV Uncertain significance 409618 rs778663250 16:2546554-2546554 16:2496553-2496553
34 TBC1D24 NM_001199107.2(TBC1D24):c.1627T>C (p.Phe543Leu)SNV Uncertain significance 409617 rs1060502502 16:2550906-2550906 16:2500905-2500905
35 TBC1D24 NM_001199107.2(TBC1D24):c.1411G>A (p.Ala471Thr)SNV Uncertain significance 425090 rs377448015 16:2550377-2550377 16:2500376-2500376
36 TBC1D24 NM_001199107.2(TBC1D24):c.1525G>A (p.Gly509Arg)SNV Uncertain significance 425091 rs749994791 16:2550491-2550491 16:2500490-2500490
37 TBC1D24 NM_001199107.2(TBC1D24):c.1207-6C>GSNV Uncertain significance 431896 rs749626631 16:2549830-2549830 16:2499829-2499829
38 TBC1D24 NM_001199107.2(TBC1D24):c.1367C>T (p.Pro456Leu)SNV Uncertain significance 431833 rs200641000 16:2550333-2550333 16:2500332-2500332
39 TBC1D24 NM_001199107.2(TBC1D24):c.734T>C (p.Leu245Pro)SNV Uncertain significance 626176 rs370477379 16:2546883-2546883 16:2496882-2496882
40 TBC1D24 NM_001199107.2(TBC1D24):c.28G>A (p.Val10Met)SNV Uncertain significance 646598 16:2546177-2546177 16:2496176-2496176
41 TBC1D24 NM_001199107.2(TBC1D24):c.143A>T (p.His48Leu)SNV Uncertain significance 649293 16:2546292-2546292 16:2496291-2496291
42 TBC1D24 NM_001199107.2(TBC1D24):c.154G>A (p.Gly52Arg)SNV Uncertain significance 639966 16:2546303-2546303 16:2496302-2496302
43 TBC1D24 NM_001199107.2(TBC1D24):c.217G>A (p.Val73Met)SNV Uncertain significance 655487 16:2546366-2546366 16:2496365-2496365
44 TBC1D24 NM_001199107.2(TBC1D24):c.226G>A (p.Asp76Asn)SNV Uncertain significance 652727 16:2546375-2546375 16:2496374-2496374
45 TBC1D24 NM_001199107.2(TBC1D24):c.331G>A (p.Glu111Lys)SNV Uncertain significance 661860 16:2546480-2546480 16:2496479-2496479
46 TBC1D24 NM_001199107.2(TBC1D24):c.431A>G (p.Tyr144Cys)SNV Uncertain significance 658235 16:2546580-2546580 16:2496579-2496579
47 TBC1D24 NM_001199107.2(TBC1D24):c.458A>C (p.Glu153Ala)SNV Uncertain significance 655303 16:2546607-2546607 16:2496606-2496606
48 TBC1D24 NM_001199107.2(TBC1D24):c.632A>G (p.Asp211Gly)SNV Uncertain significance 664150 16:2546781-2546781 16:2496780-2496780
49 TBC1D24 NM_001199107.2(TBC1D24):c.725G>A (p.Arg242His)SNV Uncertain significance 665574 16:2546874-2546874 16:2496873-2496873
50 TBC1D24 NM_001199107.2(TBC1D24):c.1322G>A (p.Arg441His)SNV Uncertain significance 570270 rs556865791 16:2550288-2550288 16:2500287-2500287

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

73
# 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

Pathways related to Deafness, Autosomal Dominant 65 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.99 RAP2B CDC16

GO Terms for Deafness, Autosomal Dominant 65

Cellular components related to Deafness, Autosomal Dominant 65 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 recycling endosome GO:0055037 8.62 RAP2B USP6

Molecular functions related to Deafness, Autosomal Dominant 65 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GTPase activator activity GO:0005096 8.8 USP6 TBC1D24 AGFG1

Sources for Deafness, Autosomal Dominant 65

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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