MCID: DFN275
MIFTS: 21

Deafness , Autosomal Recessive 86

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

Aliases & Classifications for Deafness , Autosomal Recessive 86

MalaCards integrated aliases for Deafness , Autosomal Recessive 86:

Name: Deafness , Autosomal Recessive 86 54
Autosomal Recessive Nonsyndromic Deafness 86 12 14
Dfnb86 12 71
Deafness, Autosomal Recessive, 86 71
Deafness, Autosomal Recessive 86 69
Autosomal Recessive Deafness 86 12

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
prelingual onset


HPO:

32
deafness , autosomal recessive 86:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 614617
Disease Ontology 12 DOID:0110532
ICD10 33 H90.3
MedGen 40 CN124880
MeSH 42 D006319

Summaries for Deafness , Autosomal Recessive 86

UniProtKB/Swiss-Prot : 71 Deafness, autosomal recessive, 86: A form of non-syndromic deafness characterized by prelingual onset of profound sensorineural hearing loss affecting all frequencies.

MalaCards based summary : Deafness , Autosomal Recessive 86, also known as autosomal recessive nonsyndromic deafness 86, is related to dfnb86 nonsyndromic hearing loss and deafness and autosomal recessive nonsyndromic deafness, and has symptoms including hearing impairment An important gene associated with Deafness , Autosomal Recessive 86 is TBC1D24 (TBC1 Domain Family Member 24).

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

Description from OMIM: 614617

Related Diseases for Deafness , Autosomal Recessive 86

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 108
Deafness, Autosomal Recessive 32 Deafness, Autosomal Recessive 105
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 Dominant 70 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 Dominant 72 Deafness, Autosomal Recessive 103
Deafness, Autosomal Dominant 22 Deafness, Autosomal Recessive 37
Deafness, Autosomal Dominant 66 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 Recessive 97
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 106
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 Dominant 73 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 Dominant 71 Deafness, Autosomal Recessive 48
Deafness, Autosomal Dominant 68 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 Recessive 107
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 3
Autosomal Recessive Nonsyndromic Deafness 47 Autosomal Recessive Nonsyndromic Deafness 8
Autosomal Dominant Nonsyndromic Deafness 12 Autosomal Dominant Nonsyndromic Deafness 20
Autosomal Dominant Nonsyndromic Deafness 6 Autosomal Dominant Nonsyndromic Deafness 69
Otof-Related Deafness

Diseases related to Deafness , Autosomal Recessive 86 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 dfnb86 nonsyndromic hearing loss and deafness 11.2
2 autosomal recessive nonsyndromic deafness 9.7 ENSG00000260272 TBC1D24
3 you-hoover-fong syndrome 9.6 ENSG00000260272 TBC1D24
4 estrogen resistance 9.4 ENSG00000260272 TBC1D24
5 deafness, autosomal dominant 65 8.9 CLPP ENSG00000260272 TBC1D24

Graphical network of the top 20 diseases related to Deafness , Autosomal Recessive 86:



Diseases related to Deafness , Autosomal Recessive 86

Symptoms & Phenotypes for Deafness , Autosomal Recessive 86

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Ears:
deafness, profound, affects all frequencies


Clinical features from OMIM:

614617

Human phenotypes related to Deafness , Autosomal Recessive 86:

32
id Description HPO Frequency HPO Source Accession
1 hearing impairment 32 HP:0000365

Drugs & Therapeutics for Deafness , Autosomal Recessive 86

Search Clinical Trials , NIH Clinical Center for Deafness , Autosomal Recessive 86

Genetic Tests for Deafness , Autosomal Recessive 86

Anatomical Context for Deafness , Autosomal Recessive 86

Publications for Deafness , Autosomal Recessive 86

Variations for Deafness , Autosomal Recessive 86

UniProtKB/Swiss-Prot genetic disease variations for Deafness , Autosomal Recessive 86:

71
id Symbol AA change Variation ID SNP ID
1 TBC1D24 p.Asp70Tyr VAR_070994 rs587777147
2 TBC1D24 p.Arg293Pro VAR_070995 rs199700840

ClinVar genetic disease variations for Deafness , Autosomal Recessive 86:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TBC1D24 NM_001199107.1(TBC1D24): c.208G> T (p.Asp70Tyr) single nucleotide variant Pathogenic rs587777147 GRCh38 Chromosome 16, 2496356: 2496356
2 TBC1D24 NM_001199107.1(TBC1D24): c.878G> C (p.Arg293Pro) single nucleotide variant Pathogenic rs199700840 GRCh38 Chromosome 16, 2497026: 2497026
3 TBC1D24 NM_001199107.1(TBC1D24): c.533C> T (p.Ser178Leu) single nucleotide variant Pathogenic rs483352866 GRCh38 Chromosome 16, 2496681: 2496681
4 TBC1D24 NM_001199107.1(TBC1D24): c.194G> T (p.Arg65Leu) single nucleotide variant Pathogenic rs878853232 GRCh38 Chromosome 16, 2496342: 2496342

Expression for Deafness , Autosomal Recessive 86

Search GEO for disease gene expression data for Deafness , Autosomal Recessive 86.

Pathways for Deafness , Autosomal Recessive 86

GO Terms for Deafness , Autosomal Recessive 86

Sources for Deafness , Autosomal Recessive 86

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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