DFNB86
MCID: DFN259
MIFTS: 33

Deafness, Autosomal Recessive 86 (DFNB86)

Categories: 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 57 29 13 6 70
Dfnb86 57 12 72
Autosomal Recessive Nonsyndromic Deafness 86 12 15
Deafness, Nonsyndromic, Autosomal Recessive, Type 86 39
Deafness, Autosomal Recessive, 86 72
Autosomal Recessive Deafness 86 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
prelingual onset


HPO:

31
deafness, autosomal recessive 86:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110532
OMIM® 57 614617
OMIM Phenotypic Series 57 PS220290
MeSH 44 D006319
ICD10 32 H90.3
UMLS 70 C2829265

Summaries for Deafness, Autosomal Recessive 86

UniProtKB/Swiss-Prot : 72 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 branchiootic syndrome 1 and deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome. An important gene associated with Deafness, Autosomal Recessive 86 is TBC1D24 (TBC1 Domain Family Member 24). Related phenotypes are hearing impairment and hearing/vestibular/ear

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

More information from OMIM: 614617 PS220290

Related Diseases for Deafness, Autosomal Recessive 86

Diseases in the Rare Deafness family:

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 Deafness, Autosomal Dominant 75
Deafness, Autosomal Dominant 76 Deafness, Autosomal Dominant 77
Deafness, Autosomal Dominant 78 Deafness, Autosomal Dominant 79
Deafness, Autosomal Recessive 116 Deafness, Autosomal Recessive 117
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 Dominant Nonsyndromic Deafness 78 Autosomal Dominant Nonsyndromic Deafness 79
Autosomal Recessive Nonsyndromic Deafness 116 Autosomal Dominant Nonsyndromic Deafness 74
Autosomal Dominant Nonsyndromic Deafness 75 Autosomal Dominant Nonsyndromic Deafness 76
Autosomal Dominant Nonsyndromic Deafness 77 Nonsyndromic Deafness
Otof-Related Deafness Familial Deafness

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

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 1 29.3 WHRN CDH23
2 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 29.0 USP6 TBC1D24 PCDH15 CDH23 CDC16
3 autosomal recessive non-syndromic sensorineural deafness type dfnb 28.7 WHRN TBC1D24 PCDH15 MSRB3 CDH23
4 deafness, autosomal dominant 65 28.6 WHRN USP6 TBC1D24 PCDH15 CDC16 CCNF
5 myoclonic epilepsy, familial infantile 10.2 TBC1D24 CCNF
6 nonsyndromic deafness 10.0
7 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp 10.0 USP6 TBC1D24 CDC16
8 developmental and epileptic encephalopathy 16 10.0 USP6 TBC1D24 CDC16
9 martsolf syndrome 10.0 USP6 TBC1D24 CDC16
10 rare deafness 9.9 PCDH15 CDH23
11 deafness, autosomal recessive 42 9.9 MSRB3 CLDN9
12 usher syndrome, type ik 9.9 PCDH15 CDH23
13 alacrima, achalasia, and mental retardation syndrome 9.9
14 epilepsy 9.9
15 tbc1d24-related disorders 9.9
16 auditory neuropathy spectrum disorder 9.9
17 encephalopathy 9.9
18 y-linked monogenic disease 9.9 PCDH15 CDH23
19 usher syndrome, type ic 9.8 PCDH15 CDH23
20 deafness, autosomal recessive 18a 9.8 TBC1D24 PCDH15 CDH23
21 autosomal recessive nonsyndromic deafness 36 9.8 WHRN PCDH15
22 usher syndrome, type iiib 9.8 WHRN PCDH15
23 autosomal recessive nonsyndromic deafness 3 9.7 WHRN CDH23
24 deafness, autosomal dominant 36 9.7 PCDH15 CDH23
25 deafness, autosomal recessive 30 9.7 WHRN PCDH15
26 deafness, autosomal recessive 74 9.7 SYNGR3 NTN3 MSRB3 CLDN9
27 vestibular disease 9.7 PCDH15 CDH23
28 nonsyndromic hearing loss 9.6 PCDH15 CLDN9 CDH23
29 usher syndrome, type i 9.5 WHRN PCDH15 CDH23
30 usher syndrome, type ih 9.5 WHRN PCDH15 CDH23
31 usher syndrome 9.5 WHRN PCDH15 CDH23
32 usher syndrome, type ij 9.5 WHRN PCDH15 CDH23
33 usher syndrome, type iid 9.5 WHRN PCDH15 CDH23
34 deafness, autosomal dominant 11 9.5 WHRN PCDH15 CDH23
35 deafness, autosomal recessive 2 9.5 WHRN PCDH15 CDH23
36 deafness, autosomal recessive 23 9.5 WHRN PCDH15 CDH23
37 usher syndrome, type if 9.5 WHRN PCDH15 CDH23
38 usher syndrome, type ig 9.5 WHRN PCDH15 CDH23
39 usher syndrome, type iic 9.5 WHRN PCDH15 CDH23
40 autosomal recessive nonsyndromic deafness 9.5 WHRN PCDH15 CDH23
41 digenic disease 9.5 WHRN PCDH15 CDH23
42 retinitis pigmentosa-deafness syndrome 9.5 WHRN PCDH15 CDH23
43 usher syndrome, type id 9.5 WHRN PCDH15 CDH23
44 deafness, autosomal recessive 12 9.5 WHRN PCDH15 CDH23
45 auditory system disease 9.5 WHRN PCDH15 CDH23
46 usher syndrome, type iia 9.5 WHRN PCDH15 CDH23
47 stickler syndrome 9.5 WHRN PCDH15 CDH23
48 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.5 WHRN PCDH15 CDH23
49 usher syndrome type 2 9.5 WHRN PCDH15 CDH23
50 usher syndrome, type iiia 9.4 WHRN PCDH15 CDH23

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

Human phenotypes related to Deafness, Autosomal Recessive 86:

31
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
deafness, profound, affects all frequencies

Clinical features from OMIM®:

614617 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 86:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.43 CDH23 CLDN9 MSRB3 PCDH15 TBC1D24 WHRN
2 nervous system MP:0003631 9.23 CCNF CDH23 CLDN9 MSRB3 PCDH15 SYNGR3

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 29 TBC1D24

Anatomical Context for Deafness, Autosomal Recessive 86

Publications for Deafness, Autosomal Recessive 86

Articles related to Deafness, Autosomal Recessive 86:

# Title Authors PMID Year
1
Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. 6 57 61
24387994 2014
2
DFNB86, a novel autosomal recessive non-syndromic deafness locus on chromosome 16p13.3. 61 57 6
22211675 2012
3
Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation. 6
28292732 2017
4
TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus. 6
28428906 2017
5
Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability. 6
25769375 2015
6
Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness. 61
32987832 2020
7
Unresolved questions regarding human hereditary deafness. 61
27259978 2017
8
TBC1D24-Related Disorders 61
25719194 2015
9
Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees. 61
26371875 2015
10
A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment. 61
24729547 2014

Variations for Deafness, Autosomal Recessive 86

ClinVar genetic disease variations for Deafness, Autosomal Recessive 86:

6 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TBC1D24 NM_001199107.2(TBC1D24):c.194G>T (p.Arg65Leu) SNV Pathogenic 236046 rs878853232 GRCh37: 16:2546343-2546343
GRCh38: 16:2496342-2496342
2 TBC1D24 NM_001199107.2(TBC1D24):c.346A>T (p.Lys116Ter) SNV Pathogenic 587507 rs1567411469 GRCh37: 16:2546495-2546495
GRCh38: 16:2496494-2496494
3 TBC1D24 NM_001199107.2(TBC1D24):c.965+1G>A SNV Pathogenic 977227 GRCh37: 16:2547115-2547115
GRCh38: 16:2497114-2497114
4 TBC1D24 NM_001199107.2(TBC1D24):c.208G>T (p.Asp70Tyr) SNV Pathogenic 100677 rs587777147 GRCh37: 16:2546357-2546357
GRCh38: 16:2496356-2496356
5 TBC1D24 NM_001199107.2(TBC1D24):c.878G>C (p.Arg293Pro) SNV Pathogenic 100678 rs199700840 GRCh37: 16:2547027-2547027
GRCh38: 16:2497026-2497026
6 TBC1D24 NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) SNV Likely pathogenic 207499 rs376712059 GRCh37: 16:2546606-2546606
GRCh38: 16:2496605-2496605
7 CCNF , TBC1D24 NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) SNV Uncertain significance 130540 rs200324356 GRCh37: 16:2546790-2546790
GRCh38: 16:2496789-2496789
8 TBC1D24 NM_001199107.2(TBC1D24):c.871G>A (p.Ala291Thr) SNV Uncertain significance 207506 rs375307187 GRCh37: 16:2547020-2547020
GRCh38: 16:2497019-2497019
9 TBC1D24 NM_001199107.2(TBC1D24):c.878G>A (p.Arg293His) SNV Uncertain significance 207519 rs199700840 GRCh37: 16:2547027-2547027
GRCh38: 16:2497026-2497026
10 TBC1D24 NM_001199107.2(TBC1D24):c.643T>G (p.Trp215Gly) SNV Uncertain significance 627588 rs761347854 GRCh37: 16:2546792-2546792
GRCh38: 16:2496791-2496791
11 TBC1D24 NM_001199107.2(TBC1D24):c.734T>C (p.Leu245Pro) SNV Uncertain significance 626176 rs370477379 GRCh37: 16:2546883-2546883
GRCh38: 16:2496882-2496882
12 TBC1D24 NM_001199107.2(TBC1D24):c.533C>T (p.Ser178Leu) SNV not provided 133246 rs483352866 GRCh37: 16:2546682-2546682
GRCh38: 16:2496681-2496681

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

72
# Symbol AA change Variation ID SNP ID
1 TBC1D24 p.Asp70Tyr VAR_070994 rs587777147
2 TBC1D24 p.Arg293Pro VAR_070995 rs199700840

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

Cellular components related to Deafness, Autosomal Recessive 86 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.46 WHRN TBC1D24 SYNGR3 PCDH15
2 cell junction GO:0030054 9.35 WHRN TBC1D24 SYNGR3 CLDN9 CCNF
3 stereocilium GO:0032420 8.8 WHRN PCDH15 CDH23

Biological processes related to Deafness, Autosomal Recessive 86 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.33 WHRN PCDH15 CDH23
2 photoreceptor cell maintenance GO:0045494 9.32 PCDH15 CDH23
3 inner ear receptor cell stereocilium organization GO:0060122 9.26 WHRN CDH23
4 equilibrioception GO:0050957 8.96 PCDH15 CDH23
5 sensory perception of light stimulus GO:0050953 8.8 WHRN PCDH15 CDH23

Sources for Deafness, Autosomal Recessive 86

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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