DFNB106
MCID: DFN361
MIFTS: 23

Deafness, Autosomal Recessive 106 (DFNB106)

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

Aliases & Classifications for Deafness, Autosomal Recessive 106

MalaCards integrated aliases for Deafness, Autosomal Recessive 106:

Name: Deafness, Autosomal Recessive 106 57 29 6
Dfnb106 57 72
Deafness, Autosomal Recessive, 106 72
Deafness Autosomal Recessive 106 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood


HPO:

31
deafness, autosomal recessive 106:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 617637
OMIM Phenotypic Series 57 PS220290
MeSH 44 D006319

Summaries for Deafness, Autosomal Recessive 106

UniProtKB/Swiss-Prot : 72 Deafness, autosomal recessive, 106: 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.

MalaCards based summary : Deafness, Autosomal Recessive 106, is also known as dfnb106. An important gene associated with Deafness, Autosomal Recessive 106 is EPS8L2 (EPS8 Like 2). Related phenotypes are hearing impairment and hearing/vestibular/ear

More information from OMIM: 617637 PS220290

Related Diseases for Deafness, Autosomal Recessive 106

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
Deafness, Autosomal Dominant 80 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

Symptoms & Phenotypes for Deafness, Autosomal Recessive 106

Human phenotypes related to Deafness, Autosomal Recessive 106:

31
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 very rare (1%) HP:0000365

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Ears:
hearing loss, progressive, moderate to profound

Clinical features from OMIM®:

617637 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 106:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.62 EPS8 EPS8L2

Drugs & Therapeutics for Deafness, Autosomal Recessive 106

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 106

Genetic Tests for Deafness, Autosomal Recessive 106

Genetic tests related to Deafness, Autosomal Recessive 106:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 106 29 EPS8L2

Anatomical Context for Deafness, Autosomal Recessive 106

Publications for Deafness, Autosomal Recessive 106

Articles related to Deafness, Autosomal Recessive 106:

# Title Authors PMID Year
1
Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss. 6 57
28281779 2017
2
EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss. 6 57
26282398 2015
3
Progressive hearing loss and gradual deterioration of sensory hair bundles in the ears of mice lacking the actin-binding protein Eps8L2. 57
23918390 2013

Variations for Deafness, Autosomal Recessive 106

ClinVar genetic disease variations for Deafness, Autosomal Recessive 106:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EPS8L2 NM_022772.4(EPS8L2):c.530_531dup (p.Lys178fs) Duplication Pathogenic 997572 GRCh37: 11:720881-720882
GRCh38: 11:720881-720882
2 EPS8L2 NM_022772.4(EPS8L2):c.7C>T (p.Gln3Ter) SNV Pathogenic 998329 GRCh37: 11:709414-709414
GRCh38: 11:709414-709414
3 EPS8L2 NM_022772.4(EPS8L2):c.1014del (p.Ser339fs) Deletion Pathogenic 433529 rs1554952443 GRCh37: 11:722117-722117
GRCh38: 11:722117-722117
4 EPS8L2 NM_022772.4(EPS8L2):c.738del (p.Val247fs) Deletion Pathogenic 433530 rs1554952193 GRCh37: 11:721321-721321
GRCh38: 11:721321-721321
5 EPS8L2 NM_022772.4(EPS8L2):c.206C>T (p.Thr69Met) SNV Uncertain significance 1028775 GRCh37: 11:720102-720102
GRCh38: 11:720102-720102
6 EPS8L2 NM_022772.4(EPS8L2):c.779A>G (p.Asn260Ser) SNV Uncertain significance 1028776 GRCh37: 11:721575-721575
GRCh38: 11:721575-721575
7 EPS8 NM_004447.6(EPS8):c.104A>G (p.His35Arg) SNV not provided 508700 rs71532816 GRCh37: 12:15834192-15834192
GRCh38: 12:15681258-15681258

Expression for Deafness, Autosomal Recessive 106

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 106.

Pathways for Deafness, Autosomal Recessive 106

GO Terms for Deafness, Autosomal Recessive 106

Cellular components related to Deafness, Autosomal Recessive 106 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.37 EPS8L2 EPS8
2 vesicle GO:0031982 9.32 EPS8L2 EPS8
3 ruffle membrane GO:0032587 9.26 EPS8L2 EPS8
4 stereocilium GO:0032420 9.16 EPS8L2 EPS8
5 stereocilium tip GO:0032426 8.96 EPS8L2 EPS8
6 stereocilium bundle GO:0032421 8.62 EPS8L2 EPS8

Biological processes related to Deafness, Autosomal Recessive 106 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of catalytic activity GO:0050790 9.26 EPS8L2 EPS8
2 Rho protein signal transduction GO:0007266 9.16 EPS8L2 EPS8
3 regulation of Rho protein signal transduction GO:0035023 8.96 EPS8L2 EPS8
4 positive regulation of ruffle assembly GO:1900029 8.62 EPS8L2 EPS8

Molecular functions related to Deafness, Autosomal Recessive 106 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 8.96 EPS8L2 EPS8
2 guanyl-nucleotide exchange factor activity GO:0005085 8.62 EPS8L2 EPS8

Sources for Deafness, Autosomal Recessive 106

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....