DFNB102
MCID: DFN277
MIFTS: 29

Deafness, Autosomal Recessive 102 (DFNB102)

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

Aliases & Classifications for Deafness, Autosomal Recessive 102

MalaCards integrated aliases for Deafness, Autosomal Recessive 102:

Name: Deafness, Autosomal Recessive 102 57 29 6 70
Dfnb102 57 12 72
Autosomal Recessive Nonsyndromic Deafness 102 12 15
Deafness, Autosomal Recessive, Type 102 39
Deafness, Autosomal Recessive, 102 72
Autosomal Recessive Deafness 102 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
congenital onset
one consanguineous algerian family has been reported (last curated august 2014)

Inheritance:
autosomal recessive


HPO:

31
deafness, autosomal recessive 102:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0110463
OMIM® 57 615974
OMIM Phenotypic Series 57 PS220290
MeSH 44 D006319
ICD10 32 H90.3
SNOMED-CT via HPO 68 258211005
UMLS 70 C3892050

Summaries for Deafness, Autosomal Recessive 102

UniProtKB/Swiss-Prot : 72 Deafness, autosomal recessive, 102: A form of non-syndromic deafness characterized by profound hearing loss affecting all frequencies. Vestibular function is unaffected.

MalaCards based summary : Deafness, Autosomal Recessive 102, also known as dfnb102, is related to autosomal recessive nonsyndromic deafness and branchiootic syndrome 1. An important gene associated with Deafness, Autosomal Recessive 102 is EPS8 (Epidermal Growth Factor Receptor Pathway Substrate 8). Related phenotypes are profound hearing impairment and hearing/vestibular/ear

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that has material basis in mutation in the EPS8 gene on chromosome 12p12.

More information from OMIM: 615974 PS220290

Related Diseases for Deafness, Autosomal Recessive 102

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 102 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive nonsyndromic deafness 10.1 WHRN MYO15A
2 branchiootic syndrome 1 10.1 WHRN EPS8
3 deafness, autosomal recessive 79 10.0 WHRN MYO15A
4 deafness, autosomal recessive 30 10.0 WHRN MYO15A
5 deafness, autosomal dominant 11 10.0 WHRN MYO15A
6 deafness, autosomal recessive 2 10.0 WHRN MYO15A
7 deafness, autosomal recessive 23 10.0 WHRN MYO15A
8 usher syndrome, type if 10.0 WHRN MYO15A
9 usher syndrome, type iic 10.0 WHRN MYO15A
10 usher syndrome, type id 10.0 WHRN MYO15A
11 deafness, autosomal recessive 12 9.9 WHRN MYO15A
12 auditory system disease 9.9 WHRN MYO15A
13 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.9 WHRN MYO15A
14 autosomal recessive nonsyndromic deafness 3 9.9 WHRN MYO15A EPS8
15 usher syndrome, type iid 9.9 WHRN MYO15A EPS8
16 usher syndrome 9.9 WHRN MYO15A EPS8
17 usher syndrome type 2 9.9 WHRN MYO15A EPS8
18 autosomal dominant nonsyndromic deafness 9.8 WHRN MYO15A
19 usher syndrome, type iiia 9.7 WHRN MYO15A
20 deafness, autosomal recessive 9.6 WHRN MYO15A EPS8 CLIC5
21 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.6 WHRN MYO15A EPS8 CLIC5

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 102:



Diseases related to Deafness, Autosomal Recessive 102

Symptoms & Phenotypes for Deafness, Autosomal Recessive 102

Human phenotypes related to Deafness, Autosomal Recessive 102:

31
# Description HPO Frequency HPO Source Accession
1 profound hearing impairment 31 HP:0012715

Symptoms via clinical synopsis from OMIM®:

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

Clinical features from OMIM®:

615974 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 102:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.02 CLIC5 EPS8 MYO15A UNC45B WHRN

Drugs & Therapeutics for Deafness, Autosomal Recessive 102

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 102

Genetic Tests for Deafness, Autosomal Recessive 102

Genetic tests related to Deafness, Autosomal Recessive 102:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 102 29 EPS8

Anatomical Context for Deafness, Autosomal Recessive 102

Publications for Deafness, Autosomal Recessive 102

Articles related to Deafness, Autosomal Recessive 102:

# Title Authors PMID Year
1
EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness. 6 57
24741995 2014
2
Eps8 regulates hair bundle length and functional maturation of mammalian auditory hair cells. 57
21526224 2011
3
Regulation of stereocilia length by myosin XVa and whirlin depends on the actin-regulatory protein Eps8. 57
21236676 2011

Variations for Deafness, Autosomal Recessive 102

ClinVar genetic disease variations for Deafness, Autosomal Recessive 102:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EPS8 NM_004447.6(EPS8):c.88C>T (p.Gln30Ter) SNV Pathogenic 155761 rs587777691 GRCh37: 12:15834208-15834208
GRCh38: 12:15681274-15681274
2 EPS8 NM_004447.6(EPS8):c.1435-2A>T SNV Pathogenic 997681 GRCh37: 12:15800196-15800196
GRCh38: 12:15647262-15647262
3 EPS8 GRCh37/hg19 12p12.3(chr12:15800060-15865927) copy number loss Pathogenic 997682 GRCh37: 12:15800060-15865927
GRCh38:
4 EPS8 NM_004447.6(EPS8):c.871G>T (p.Ala291Ser) SNV Uncertain significance 761279 rs202097537 GRCh37: 12:15813614-15813614
GRCh38: 12:15660680-15660680
5 EPS8 NM_004447.6(EPS8):c.2177C>T (p.Thr726Ile) SNV Uncertain significance 517643 rs150904526 GRCh37: 12:15777209-15777209
GRCh38: 12:15624275-15624275

Expression for Deafness, Autosomal Recessive 102

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 102.

Pathways for Deafness, Autosomal Recessive 102

GO Terms for Deafness, Autosomal Recessive 102

Cellular components related to Deafness, Autosomal Recessive 102 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.86 WHRN UNC45B TMOD4 MYO15A MYH15 EPS8
2 myosin complex GO:0016459 9.4 MYO15A MYH15
3 chloride channel complex GO:0034707 9.37 CLIC6 CLIC5
4 myofibril GO:0030016 9.32 TMOD4 MYH15
5 stereocilium tip GO:0032426 9.16 WHRN EPS8
6 stereocilium GO:0032420 9.13 WHRN MYO15A EPS8
7 stereocilium bundle GO:0032421 8.8 WHRN MYO15A EPS8

Biological processes related to Deafness, Autosomal Recessive 102 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chloride transmembrane transport GO:1902476 9.16 CLIC6 CLIC5
2 chloride transport GO:0006821 8.96 CLIC6 CLIC5
3 sensory perception of sound GO:0007605 8.8 WHRN MYO15A CLIC5

Molecular functions related to Deafness, Autosomal Recessive 102 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chloride channel activity GO:0005254 9.16 CLIC6 CLIC5
2 actin filament binding GO:0051015 9.13 TMOD4 MYO15A MYH15
3 actin binding GO:0003779 8.92 TMOD4 MYO15A MYH15 EPS8

Sources for Deafness, Autosomal Recessive 102

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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