DFNB86
MCID: DFN259
MIFTS: 23

Deafness, Autosomal Recessive 86 (DFNB86)

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

Aliases & Classifications for Deafness, Autosomal Recessive 86

MalaCards integrated aliases for Deafness, Autosomal Recessive 86:

Name: Deafness, Autosomal Recessive 86 58 30 13 6 74
Dfnb86 58 76
Deafness , Autosomal Recessive 86 58
Deafness, Autosomal Recessive, 86 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
prelingual onset


HPO:

33
deafness, autosomal recessive 86:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 614617
MeSH 45 D006319
UMLS 74 C2829265

Summaries for Deafness, Autosomal Recessive 86

UniProtKB/Swiss-Prot : 76 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 dfnb86, is related to autosomal recessive nonsyndromic deafness 86 and nonsyndromic deafness. An important gene associated with Deafness, Autosomal Recessive 86 is TBC1D24 (TBC1 Domain Family Member 24). Related phenotype is hearing impairment.

Description from OMIM: 614617

Related Diseases for Deafness, Autosomal Recessive 86

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 Deafness, Autosomal Recessive 113
Deafness, Autosomal Recessive 100 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

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

# Related Disease Score Top Affiliating Genes
1 autosomal recessive nonsyndromic deafness 86 11.4
2 nonsyndromic deafness 10.1
3 epilepsy 10.1

Symptoms & Phenotypes for Deafness, Autosomal Recessive 86

Human phenotypes related to Deafness, Autosomal Recessive 86:

33
# Description HPO Frequency HPO Source Accession
1 hearing impairment 33 HP:0000365

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
deafness, profound, affects all frequencies

Clinical features from OMIM:

614617

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

Genetic tests related to Deafness, Autosomal Recessive 86:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 86 30 TBC1D24

Anatomical Context for Deafness, Autosomal Recessive 86

Publications for Deafness, Autosomal Recessive 86

Articles related to Deafness, Autosomal Recessive 86:

# Title Authors Year
1
Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. ( 24387994 )
2014
2
DFNB86, a novel autosomal recessive non-syndromic deafness locus on chromosome 16p13.3. ( 22211675 )
2012

Variations for Deafness, Autosomal Recessive 86

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

76
# 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 (show all 20)
# 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.208G> T (p.Asp70Tyr) single nucleotide variant Pathogenic rs587777147 GRCh37 Chromosome 16, 2546357: 2546357
3 TBC1D24 NM_001199107.1(TBC1D24): c.878G> C (p.Arg293Pro) single nucleotide variant Pathogenic rs199700840 GRCh38 Chromosome 16, 2497026: 2497026
4 TBC1D24 NM_001199107.1(TBC1D24): c.878G> C (p.Arg293Pro) single nucleotide variant Pathogenic rs199700840 GRCh37 Chromosome 16, 2547027: 2547027
5 TBC1D24 NM_020705.2(TBC1D24): c.641G> A (p.Arg214His) single nucleotide variant Conflicting interpretations of pathogenicity rs200324356 GRCh37 Chromosome 16, 2546790: 2546790
6 TBC1D24 NM_020705.2(TBC1D24): c.641G> A (p.Arg214His) single nucleotide variant Conflicting interpretations of pathogenicity rs200324356 GRCh38 Chromosome 16, 2496789: 2496789
7 TBC1D24 NM_001199107.1(TBC1D24): c.533C> T (p.Ser178Leu) single nucleotide variant Pathogenic rs483352866 GRCh38 Chromosome 16, 2496681: 2496681
8 TBC1D24 NM_001199107.1(TBC1D24): c.533C> T (p.Ser178Leu) single nucleotide variant Pathogenic rs483352866 GRCh37 Chromosome 16, 2546682: 2546682
9 TBC1D24 NM_001199107.1(TBC1D24): c.871G> A (p.Ala291Thr) single nucleotide variant Uncertain significance rs375307187 GRCh38 Chromosome 16, 2497019: 2497019
10 TBC1D24 NM_001199107.1(TBC1D24): c.871G> A (p.Ala291Thr) single nucleotide variant Uncertain significance rs375307187 GRCh37 Chromosome 16, 2547020: 2547020
11 TBC1D24 NM_001199107.1(TBC1D24): c.878G> A (p.Arg293His) single nucleotide variant Uncertain significance rs199700840 GRCh37 Chromosome 16, 2547027: 2547027
12 TBC1D24 NM_001199107.1(TBC1D24): c.878G> A (p.Arg293His) single nucleotide variant Uncertain significance rs199700840 GRCh38 Chromosome 16, 2497026: 2497026
13 TBC1D24 NM_001199107.1(TBC1D24): c.194G> T (p.Arg65Leu) single nucleotide variant Pathogenic rs878853232 GRCh38 Chromosome 16, 2496342: 2496342
14 TBC1D24 NM_001199107.1(TBC1D24): c.194G> T (p.Arg65Leu) single nucleotide variant Pathogenic rs878853232 GRCh37 Chromosome 16, 2546343: 2546343
15 TBC1D24 NM_001199107.1(TBC1D24): c.346A> T (p.Lys116Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 2546495: 2546495
16 TBC1D24 NM_001199107.1(TBC1D24): c.346A> T (p.Lys116Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 2496494: 2496494
17 TBC1D24 NM_001199107.1(TBC1D24): c.734T> C (p.Leu245Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 2546883: 2546883
18 TBC1D24 NM_001199107.1(TBC1D24): c.734T> C (p.Leu245Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 2496882: 2496882
19 TBC1D24 NM_001199107.1(TBC1D24): c.643T> G (p.Trp215Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 2496791: 2496791
20 TBC1D24 NM_001199107.1(TBC1D24): c.643T> G (p.Trp215Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 2546792: 2546792

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

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70 SNOMED-CT via HPO
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