DFNB26
MCID: DFN168
MIFTS: 38

Deafness, Autosomal Recessive 26 (DFNB26)

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

Aliases & Classifications for Deafness, Autosomal Recessive 26

MalaCards integrated aliases for Deafness, Autosomal Recessive 26:

Name: Deafness, Autosomal Recessive 26 58 13 6 74
Dfnb26 58 12 76
Autosomal Recessive Nonsyndromic Deafness 26 12 15
Deafness, Autosomal Recessive, 26 76
Autosomal Recessive Deafness 26 12

Characteristics:

OMIM:

58
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:

33
deafness, autosomal recessive 26:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110484
OMIM 58 605428
MeSH 45 D006319
ICD10 34 H90.3
MedGen 43 C1854275
SNOMED-CT via HPO 70 258211005 60700002
UMLS 74 C1854275

Summaries for Deafness, Autosomal Recessive 26

UniProtKB/Swiss-Prot : 76 Deafness, autosomal recessive, 26: A form of non-syndromic sensorineural deafness characterized by prelingual, severe to profound 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 26, also known as dfnb26, is related to deafness, autosomal recessive 26, modifier of and auditory neuropathy spectrum disorder. 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 Development IGF-1 receptor signaling. Affiliated tissues include brain, and related phenotypes are sensorineural hearing impairment and behavior/neurological

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

OMIM : 58 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 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 26 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 26, modifier of 12.4
2 auditory neuropathy spectrum disorder 10.3 MYO7A OTOF
3 retinitis pigmentosa-deafness syndrome 10.2 CDH23 MYO7A
4 autosomal dominant nonsyndromic deafness 10.2 MYO7A TECTA
5 usher syndrome, type ig 10.2 CDH23 MYO7A
6 deafness, autosomal recessive 21 10.2 GJB2 TECTA
7 usher syndrome, type if 10.2 CDH23 MYO7A
8 deafness, autosomal recessive 59 10.2 GJB2 OTOF
9 auditory neuropathy, autosomal dominant, 1 10.2 GJB2 OTOF
10 usher syndrome, type id 10.2 CDH23 MYO7A
11 deafness, autosomal recessive 1a 10.1 GJB2 OTOF
12 deafness, autosomal recessive 3 10.1 GJB2 MYO7A
13 leopard syndrome 10.1 GAB1 PTPN11
14 hodgkin's lymphoma, nodular sclerosis 10.1 GJB2 SLC26A4
15 usher syndrome, type ic 10.1 CDH23 MYO7A
16 deafness, autosomal dominant 36 10.1 GJB2 SLC26A4
17 deafness, autosomal recessive 6 10.0 GJB2 MYO7A
18 deafness, autosomal recessive 9 10.0 GJB2 OTOF TECTA
19 usher syndrome, type iid 10.0 CDH23 MYO7A
20 legius syndrome 10.0 PTPN11 SPRY2
21 vestibular disease 10.0 GJB2 SLC26A4
22 non-syndromic genetic deafness 10.0 GJB2 OTOF TECTA
23 ear malformation 10.0 GJB2 SLC26A4
24 dfnb1 10.0 GJB2 MYO7A OTOF
25 usher syndrome, type iiia 9.9 CDH23 MYO7A
26 deafness, autosomal recessive 12 9.9 CDH23 GJB2 MYO7A
27 usher syndrome 9.9 CDH23 GJB2 MYO7A
28 deafness, autosomal recessive 97 9.9 GJB2 MET
29 drug-induced hearing loss 9.9 GJB2 SLC26A4
30 deafness, autosomal recessive 30 9.9 GJB2 MYO7A SLC26A4
31 deafness, autosomal recessive 2 9.8 GJB2 MYO7A OTOF TECTA
32 usher syndrome, type iic 9.8 CDH23 MYO7A
33 deafness, autosomal recessive 85 9.8 CDH23 MYO7A OTOF SLC26A4
34 deafness, autosomal recessive 83 9.8 CDH23 MYO7A OTOF SLC26A4
35 autosomal recessive nonsyndromic deafness 9.7 CDH23 GJB2 OTOF SLC26A4
36 deafness, autosomal recessive 16 9.7 GJB2 MYO7A OTOF SLC26A4
37 deafness, autosomal dominant 13 9.7 GJB2 MYO7A OTOF SLC26A4
38 deafness, autosomal recessive 23 9.7 CDH23 GJB2 MYO7A SLC26A4
39 inner ear disease 9.7 CDH23 GJB2 MYO7A SLC26A4
40 deafness, autosomal dominant 6 9.5 CDH23 GJB2 MYO7A OTOF SLC26A4
41 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.5 CDH23 GJB2 MYO7A OTOF SLC26A4
42 autosomal recessive nonsyndromic deafness 3 9.3 CDH23 GJB2 MYO7A OTOF SLC26A4 TECTA
43 nonsyndromic deafness 9.3 CDH23 GJB2 MYO7A OTOF SLC26A4 TECTA
44 branchiootic syndrome 1 9.3 CDH23 GJB2 MYO7A OTOF SLC26A4 TECTA
45 auditory system disease 9.3 CDH23 GJB2 MYO7A OTOF SLC26A4 TECTA
46 sensorineural hearing loss 9.3 CDH23 GJB2 MYO7A OTOF SLC26A4 TECTA
47 autosomal recessive non-syndromic sensorineural deafness type dfnb 8.9 CDH23 GJB2 MET MYO7A OTOF SLC26A4

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

Human phenotypes related to Deafness, Autosomal Recessive 26:

33
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 33 HP:0000407

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
hearing loss, prelingual sensorineural (severe to profound)

Clinical features from OMIM:

605428

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 26:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.11 CDH23 GAB1 MET MYO7A OTOF PTPN11
2 hearing/vestibular/ear MP:0005377 10.02 CDH23 GJB2 MYO7A OTOF PTPN11 SLC26A4
3 homeostasis/metabolism MP:0005376 9.97 CDH23 GAB1 GJB2 MET MYO7A PLEK
4 nervous system MP:0003631 9.96 CDH23 GJB2 MET MYO7A OTOF PTPN11
5 craniofacial MP:0005382 9.91 CDH23 GAB1 GJB2 MET PTPN11 SPRY2
6 digestive/alimentary MP:0005381 9.88 CDH23 GAB1 MET PTPN11 SLC26A4 SPRY2
7 no phenotypic analysis MP:0003012 9.63 GJB2 MET MYO7A OTOF PTPN11 TECTA
8 pigmentation MP:0001186 9.26 MYO7A PTPN11 SLC26A4 TUB
9 vision/eye MP:0005391 9.23 CDH23 GAB1 GJB2 MET MYO7A PTPN11

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

MalaCards organs/tissues related to Deafness, Autosomal Recessive 26:

42
Brain

Publications for Deafness, Autosomal Recessive 26

Articles related to Deafness, Autosomal Recessive 26:

# Title Authors Year
1
Modifier variant of METTL13 suppresses human GAB1-associated profound deafness. ( 29408807 )
2018
2
Dominant modifier DFNM1 suppresses recessive deafness DFNB26. ( 11101839 )
2000

Variations for Deafness, Autosomal Recessive 26

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 26:

76
# Symbol AA change Variation ID SNP ID
1 GAB1 p.Gly116Glu VAR_080809

ClinVar genetic disease variations for Deafness, Autosomal Recessive 26:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GAB1 NM_207123.2(GAB1): c.347G> A (p.Gly116Glu) single nucleotide variant Pathogenic rs1553950635 GRCh38 Chromosome 4, 143415751: 143415751
2 GAB1 NM_207123.2(GAB1): c.347G> A (p.Gly116Glu) single nucleotide variant Pathogenic rs1553950635 GRCh37 Chromosome 4, 144336904: 144336904

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

Cellular components related to Deafness, Autosomal Recessive 26 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.28 CDH23 GJB2 MET OTOF PLEK SLC26A4
2 stereocilium GO:0032420 8.96 CDH23 MYO7A

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

# Name GO ID Score Top Affiliating Genes
1 phagocytosis GO:0006909 9.5 MET MYO7A TUB
2 photoreceptor cell maintenance GO:0045494 9.46 CDH23 TUB
3 branching morphogenesis of an epithelial tube GO:0048754 9.43 MET SPRY2
4 inner ear receptor cell stereocilium organization GO:0060122 9.4 CDH23 MYO7A
5 sensory perception of light stimulus GO:0050953 9.37 CDH23 MYO7A
6 inner ear development GO:0048839 9.33 GJB2 MYO7A PTPN11
7 equilibrioception GO:0050957 9.26 CDH23 MYO7A
8 positive regulation of protein kinase B signaling GO:0051897 9.26 GAB1 MET PTPN11 SPRY2
9 sensory perception of sound GO:0007605 9.23 CDH23 GJB2 MYO7A OTOF SLC26A4 SPRY2

Sources for Deafness, Autosomal Recessive 26

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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