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DFNB26
MCID: DFN168
MIFTS: 21

Deafness, Autosomal Recessive 26 (DFNB26)

Categories: Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Deafness, Autosomal Recessive 26

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MalaCards integrated aliases for Deafness, Autosomal Recessive 26:

Name: Deafness, Autosomal Recessive 26 57 12 5 38 71
Dfnb26 57 11 73
Autosomal Recessive Nonsyndromic Deafness 26 11
Deafness, Autosomal Recessive, 26 73
Autosomal Recessive Deafness 26 11

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
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


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Ear diseases Neuronal diseases Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 31


External Ids:

Disease Ontology 11 DOID:0110484
OMIM® 57 605428
OMIM Phenotypic Series 57 PS220290
MeSH 43 D006319
ICD10 31 H90.3
MedGen 40 C1854275
SNOMED-CT via HPO 69 60700002
UMLS 71 C1854275
Sources

Summaries for Deafness, Autosomal Recessive 26

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UniProtKB/Swiss-Prot: 73 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 deafness, autosomal recessive 2. An important gene associated with Deafness, Autosomal Recessive 26 is GAB1 (GRB2 Associated Binding Protein 1). Affiliated tissues include brain, and related phenotype is sensorineural hearing impairment.

Disease Ontology: 11 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 08-Dec-2022)

Sources

Related Diseases for Deafness, Autosomal Recessive 26

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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 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
Deafness, Autosomal Dominant 81 Deafness, Autosomal Recessive 119
Deafness, Autosomal Dominant 82 Deafness, Autosomal Dominant 83
Deafness, Autosomal Dominant 84 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 70
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 Otof-Related Deafness
Familial Deafness

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

# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 26, modifier of 11.5
2 deafness, autosomal recessive 2 9.9
3 deafness, autosomal recessive 3 9.9
4 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.9
5 deafness, autosomal recessive 9 9.9
6 autosomal recessive nonsyndromic deafness 3 9.9
7 otof-related deafness 9.9
8 dfnb1 9.9
9 nonsyndromic hearing loss 9.9

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



Diseases related to Deafness, Autosomal Recessive 26
Sources

Symptoms & Phenotypes for Deafness, Autosomal Recessive 26

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Human phenotypes related to Deafness, Autosomal Recessive 26:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 30 HP:0000407

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Ears:
hearing loss, prelingual sensorineural (severe to profound)

Clinical features from OMIM®:

605428 (Updated 08-Dec-2022)

Sources

Drugs & Therapeutics for Deafness, Autosomal Recessive 26

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

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Genetic Tests for Deafness, Autosomal Recessive 26

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Anatomical Context for Deafness, Autosomal Recessive 26

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Organs/tissues related to Deafness, Autosomal Recessive 26:

MalaCards : Brain
Sources

Publications for Deafness, Autosomal Recessive 26

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Articles related to Deafness, Autosomal Recessive 26:

# Title Authors PMID Year
1
Modifier variant of METTL13 suppresses human GAB1-associated profound deafness. 62 57 5
29408807 2018
2
Dominant modifier DFNM1 suppresses recessive deafness DFNB26. 62 57 5
11101839 2000
3
Modifier genes in mice and humans. 57
11256068 2001
4
Strain background effects and genetic modifiers of hearing in mice. 62
16579977 2006
Sources

Variations for Deafness, Autosomal Recessive 26

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ClinVar genetic disease variations for Deafness, Autosomal Recessive 26:

5
# 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:

73
# Symbol AA change Variation ID SNP ID
1 GAB1 p.Gly116Glu VAR_080809 rs1553950635

Sources

Expression for Deafness, Autosomal Recessive 26

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

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GO Terms for Deafness, Autosomal Recessive 26

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Sources

Sources for Deafness, Autosomal Recessive 26

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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