DFNB26
MCID: DFN168
MIFTS: 26

Deafness, Autosomal Recessive 26 (DFNB26)

Categories: 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 57 29 13 6 70
Dfnb26 57 12 72
Autosomal Recessive Nonsyndromic Deafness 26 12 15
Deafness, Autosomal Recessive, 26 72
Autosomal Recessive Deafness 26 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
deafness, autosomal recessive 26:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110484
OMIM® 57 605428
OMIM Phenotypic Series 57 PS220290
MeSH 44 D006319
ICD10 32 H90.3
MedGen 41 C1854275
SNOMED-CT via HPO 68 258211005 60700002
UMLS 70 C1854275

Summaries for Deafness, Autosomal Recessive 26

UniProtKB/Swiss-Prot : 72 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 2 and nonsyndromic deafness. An important gene associated with Deafness, Autosomal Recessive 26 is GAB1 (GRB2 Associated Binding Protein 1). Related phenotype is sensorineural hearing impairment.

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

OMIM® : 57 DFNB26 is characterized by prelingual severe to profound nonsyndromic hearing loss (Yousaf et al., 2018). (605428) (Updated 20-May-2021)

Related Diseases for Deafness, Autosomal Recessive 26

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

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

(show all 45)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 2 29.6 TECTA GJB2
2 nonsyndromic deafness 29.5 TECTA GJB2
3 branchiootic syndrome 1 29.4 TECTA GJB2
4 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 29.1 TECTA MT-RNR1 GJB2
5 deafness, autosomal recessive 26, modifier of 11.4
6 combined oxidative phosphorylation deficiency 10 10.1 MTO1 GTPBP3
7 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay 10.0 MTO1 GTPBP3
8 deafness, nonsyndromic sensorineural, mitochondrial 10.0 TFB1M MT-RNR1
9 cardiomyopathy, infantile hypertrophic 10.0 MTO1 GTPBP3
10 deafness, autosomal recessive 3 9.9
11 autosomal recessive nonsyndromic deafness 3 9.9
12 dfnb1 9.9
13 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.9
14 early myoclonic encephalopathy 9.9 MTO1 GTPBP3
15 congenital cytomegalovirus 9.8 MT-RNR1 GJB2
16 bart-pumphrey syndrome 9.8 MT-RNR1 GJB2
17 vestibular disease 9.8 MT-RNR1 GJB2
18 mitochondrial myopathy 9.8 MTO1 MT-RNR1 GTPBP3
19 x-linked nonsyndromic deafness 9.8 MT-RNR1 GJB2
20 deafness, autosomal dominant 6 9.8 TECTA GJB2
21 deafness, autosomal recessive 29 9.8 TECTA GJB2
22 deafness, autosomal recessive 21 9.8 TECTA GJB2
23 deafness, autosomal dominant 1, with or without thrombocytopenia 9.8 TECTA GJB2
24 pendred syndrome 9.7 MT-RNR1 GJB2
25 deafness, autosomal recessive 9 9.7 TECTA GJB2
26 inner ear disease 9.7 MT-RNR1 GJB2
27 usher syndrome, type id 9.7 TECTA GJB2
28 waardenburg's syndrome 9.7 MT-RNR1 GJB2
29 erythrokeratodermia variabilis et progressiva 1 9.7 TECTA GJB2
30 non-syndromic genetic deafness 9.7 TECTA GJB2
31 otosclerosis 9.7 MT-RNR1 GJB2
32 leigh syndrome 9.6 TFB1M MTO1 GTPBP3
33 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.6 TFB1M MTO1 MT-RNR1 GTPBP3
34 usher syndrome type 2 9.5 TECTA GJB2
35 deafness, autosomal recessive 12 9.5 TECTA MT-RNR1 GJB2
36 auditory system disease 9.5 TECTA MT-RNR1 GJB2
37 autosomal dominant nonsyndromic deafness 9.5 TECTA MT-RNR1 GJB2
38 rare genetic deafness 9.5 TECTA MT-RNR1 GJB2
39 autosomal recessive nonsyndromic deafness 9.5 TECTA MT-RNR1 GJB2
40 usher syndrome, type i 9.5 TECTA MT-RNR1 GJB2
41 usher syndrome 9.5 TECTA MT-RNR1 GJB2
42 nonsyndromic hearing loss 9.4 TECTA GJB2
43 drug-induced hearing loss 9.4 TFB1M MT-RNR1 GTPBP3 GJB2
44 deafness, aminoglycoside-induced 9.4 TFB1M MT-RNR1 GTPBP3 GJB2
45 sensorineural hearing loss 9.2 TECTA MTO1 MT-RNR1 GJB2

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:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Ears:
hearing loss, prelingual sensorineural (severe to profound)

Clinical features from OMIM®:

605428 (Updated 20-May-2021)

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

Genetic tests related to Deafness, Autosomal Recessive 26:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 26 29 GAB1

Anatomical Context for Deafness, Autosomal Recessive 26

Publications for Deafness, Autosomal Recessive 26

Articles related to Deafness, Autosomal Recessive 26:

# Title Authors PMID Year
1
Modifier variant of METTL13 suppresses human GAB1-associated profound deafness. 6 57 61
29408807 2018
2
Dominant modifier DFNM1 suppresses recessive deafness DFNB26. 61 6 57
11101839 2000
3
Modifier genes in mice and humans. 57
11256068 2001
4
Strain background effects and genetic modifiers of hearing in mice. 61
16579977 2006

Variations for Deafness, Autosomal Recessive 26

ClinVar genetic disease variations for Deafness, Autosomal Recessive 26:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GAB1 NM_002039.4(GAB1):c.347G>A (p.Gly116Glu) SNV Pathogenic 545492 rs1553950635 GRCh37: 4:144336904-144336904
GRCh38: 4:143415751-143415751

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

72
# Symbol AA change Variation ID SNP ID
1 GAB1 p.Gly116Glu VAR_080809 rs155395063

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 tRNA processing GO:0008033 9.16 MTO1 GTPBP3
2 tRNA methylation GO:0030488 8.96 MTO1 GTPBP3
3 tRNA wobble uridine modification GO:0002098 8.62 MTO1 GTPBP3

Sources for Deafness, Autosomal Recessive 26

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
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