MCID: DFN168
MIFTS: 36

Deafness, Autosomal Recessive 26

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

Aliases & Classifications for Deafness, Autosomal Recessive 26

MalaCards integrated aliases for Deafness, Autosomal Recessive 26:

Name: Deafness, Autosomal Recessive 26 57 13 6 73
Autosomal Recessive Nonsyndromic Deafness 26 12 15
Dfnb26 57 12
Autosomal Recessive Deafness 26 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
based on a description of a large consanguineous pakistani family (last curated june 2018)
homozygous individuals who also carry a heterozygous mutation in the mettl13 gene do not develop deafness


HPO:

32
deafness, autosomal recessive 26:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 605428
Disease Ontology 12 DOID:0110484
ICD10 33 H90.3
MedGen 42 C1854275
SNOMED-CT via HPO 69 258211005 60700002
UMLS 73 C1854275

Summaries for Deafness, Autosomal Recessive 26

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q31.

MalaCards based summary : Deafness, Autosomal Recessive 26, also known as autosomal recessive nonsyndromic deafness 26, is related to deafness, autosomal recessive 26, modifier of and deafness, autosomal recessive 21. An important gene associated with Deafness, Autosomal Recessive 26 is GAB1 (GRB2 Associated Binding Protein 1), and among its related pathways/superpathways are MET promotes cell motility and Proteoglycans in cancer. Related phenotypes are sensorineural hearing impairment and behavior/neurological

OMIM : 57 DFNB26 is characterized by prelingual severe to profound nonsyndromic hearing loss (Yousaf et al., 2018). (605428)

Related Diseases for Deafness, Autosomal Recessive 26

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 32 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 Recessive 105 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 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 36 Autosomal Recessive Nonsyndromic Deafness 86
Otof-Related Deafness

Diseases related to Deafness, Autosomal Recessive 26 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 26, modifier of 12.1
2 deafness, autosomal recessive 21 10.4 GJB2 TECTA
3 deafness, autosomal recessive 59 10.3 GJB2 OTOF
4 auditory neuropathy, autosomal dominant, 1 10.3 GJB2 OTOF
5 dfnb1 10.3 GJB2 OTOF
6 deafness, autosomal recessive 1a 10.3 GJB2 OTOF
7 hodgkin's lymphoma, nodular sclerosis 10.2 GJB2 SLC26A4
8 leopard syndrome 10.2 GAB1 PTPN11
9 deafness, autosomal dominant 36 10.2 GJB2 SLC26A4
10 deafness, autosomal recessive 12 10.2 CDH23 GJB2
11 deafness, autosomal recessive 9 10.1 GJB2 OTOF TECTA
12 deafness, autosomal recessive 2 10.1 GJB2 OTOF TECTA
13 non-syndromic genetic deafness 10.1 GJB2 OTOF TECTA
14 deafness, autosomal recessive 85 10.1 CDH23 OTOF SLC26A4
15 autosomal dominant nonsyndromic deafness 10.0 GJB2 OTOF TECTA
16 deafness, autosomal recessive 83 10.0 CDH23 OTOF SLC26A4
17 vestibular disease 10.0 GJB2 SLC26A4
18 legius syndrome 10.0 PTPN11 SPRY2
19 deafness, autosomal recessive 97 10.0 GJB2 MET
20 deafness, autosomal recessive 16 9.9 GJB2 OTOF SLC26A4
21 deafness, autosomal dominant 13 9.9 GJB2 OTOF SLC26A4
22 ear malformation 9.9 GJB2 SLC26A4
23 deafness, autosomal recessive 23 9.9 CDH23 GJB2 SLC26A4
24 inner ear disease 9.8 CDH23 GJB2 SLC26A4
25 deafness, autosomal recessive 30 9.8 GJB2 SLC26A4
26 autosomal dominant non-syndromic sensorineural deafness type dfna 9.7 GJB2 TECTA
27 autosomal recessive nonsyndromic deafness 9.6 CDH23 GJB2 OTOF SLC26A4
28 deafness, autosomal dominant 6 9.5 CDH23 GJB2 OTOF SLC26A4
29 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.5 CDH23 GJB2 OTOF SLC26A4
30 sensorineural hearing loss 9.5 CDH23 GJB2 OTOF SLC26A4
31 autosomal recessive nonsyndromic deafness 3 9.2 CDH23 GJB2 OTOF SLC26A4 TECTA
32 auditory system disease 9.2 CDH23 GJB2 OTOF SLC26A4 TECTA
33 nonsyndromic deafness 9.2 CDH23 GJB2 OTOF SLC26A4 TECTA
34 autosomal recessive non-syndromic sensorineural deafness type dfnb 8.5 CDH23 GJB2 MET OTOF SLC26A4 TECTA

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 26:



Diseases related to Deafness, Autosomal Recessive 26

Symptoms & Phenotypes for Deafness, Autosomal Recessive 26

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss, prelingual sensorineural (severe to profound)


Clinical features from OMIM:

605428

Human phenotypes related to Deafness, Autosomal Recessive 26:

32
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 26:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 CDH23 GAB1 MET OTOF PTPN11 SLC26A4
2 craniofacial MP:0005382 9.8 CDH23 GAB1 GJB2 MET PTPN11 SPRY2
3 hearing/vestibular/ear MP:0005377 9.76 SPRY2 TECTA TUB CDH23 GJB2 OTOF
4 digestive/alimentary MP:0005381 9.73 PTPN11 SLC26A4 SPRY2 CDH23 GAB1 MET
5 nervous system MP:0003631 9.61 CDH23 GJB2 MET OTOF PTPN11 SLC26A4
6 vision/eye MP:0005391 9.17 CDH23 GAB1 GJB2 MET PTPN11 SPRY2

Drugs & Therapeutics for Deafness, Autosomal Recessive 26

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 26

Genetic Tests for Deafness, Autosomal Recessive 26

Anatomical Context for Deafness, Autosomal Recessive 26

Publications for Deafness, Autosomal Recessive 26

Variations for Deafness, Autosomal Recessive 26

ClinVar genetic disease variations for Deafness, Autosomal Recessive 26:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GAB1 NM_207123.2: c.347G> A single nucleotide variant Pathogenic

Expression for Deafness, Autosomal Recessive 26

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 26.

Pathways for Deafness, Autosomal Recessive 26

GO Terms for Deafness, Autosomal Recessive 26

Biological processes related to Deafness, Autosomal Recessive 26 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.54 MET PTPN11 SPRY2
2 phosphatidylinositol phosphorylation GO:0046854 9.33 GAB1 MET PTPN11
3 photoreceptor cell maintenance GO:0045494 9.32 CDH23 TUB
4 branching morphogenesis of an epithelial tube GO:0048754 9.26 MET SPRY2
5 positive regulation of protein kinase B signaling GO:0051897 9.26 GAB1 MET PTPN11 SPRY2
6 sensory perception of sound GO:0007605 9.17 CDH23 GJB2 OTOF SLC26A4 SPRY2 TECTA

Molecular functions related to Deafness, Autosomal Recessive 26 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 1-phosphatidylinositol-3-kinase activity GO:0016303 8.96 GAB1 PTPN11
2 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 8.8 GAB1 MET PTPN11

Sources for Deafness, Autosomal Recessive 26

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....