MCID: DFN168
MIFTS: 27

Deafness, Autosomal Recessive 26

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

Aliases & Classifications for Deafness, Autosomal Recessive 26

MalaCards integrated aliases for Deafness, Autosomal Recessive 26:

Name: Deafness, Autosomal Recessive 26 54 13 69
Autosomal Recessive Nonsyndromic Deafness 26 12 14
Autosomal Recessive Deafness 26 12
Dfnb26 12

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
based on a description of a large consanguineous pakistani family


Classifications:



External Ids:

OMIM 54 605428
Disease Ontology 12 DOID:0110484
ICD10 33 H90.3

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 anal canal carcinoma and pigmented nodular adrenocortical disease, primary, 2. An important gene associated with Deafness, Autosomal Recessive 26 is DFNB26 (Deafness, Autosomal Recessive 26). Related phenotypes are hearing/vestibular/ear and nervous system

Description from OMIM: 605428

Related Diseases for Deafness, Autosomal Recessive 26

Diseases in the Familial Deafness family:

Deafness, Autosomal Recessive 96 Deafness, Autosomal Recessive 36
Deafness, Autosomal Dominant 2b Deafness, Autosomal Recessive
Deafness, Autosomal Dominant 2a Deafness, Autosomal Recessive 108
Deafness, Autosomal Recessive 32 Deafness, Autosomal Recessive 105
Deafness, Autosomal Dominant 7 Deafness, Autosomal Dominant 49
Deafness, Autosomal Recessive 45 Deafness, Autosomal Recessive 9
Deafness, Autosomal Dominant 58 Deafness, Autosomal Recessive 70
Deafness, Autosomal Dominant 43 Deafness, Autosomal Recessive 88
Deafness, Autosomal Dominant 16 Deafness, Autosomal Recessive 27
Deafness, Autosomal Recessive 59 Deafness, Autosomal Recessive 6
Deafness, Autosomal Dominant 70 Deafness, Autosomal Recessive 42
Deafness, Autosomal Dominant 18 Deafness, Autosomal Dominant 44
Deafness, Autosomal Dominant 6/14/38 Deafness, Autosomal Recessive 25
Deafness, Autosomal Dominant 27 Deafness, Autosomal Recessive 55
Deafness, Autosomal Recessive 26 Deafness, Autosomal Dominant 24
Deafness, Autosomal Recessive 49 Deafness, Autosomal Dominant 1
Deafness, Autosomal Dominant 54 Deafness, Autosomal Dominant 15
Deafness, Autosomal Dominant 52 Deafness, Autosomal Recessive 101
Deafness, Autosomal Recessive 91 Deafness, Autosomal Dominant 21
Deafness, Autosomal Recessive 104 Deafness, Autosomal Recessive 66
Deafness, Autosomal Dominant 13 Deafness, Autosomal Recessive 53
Deafness, Autosomal Dominant 31 Deafness, Autosomal Recessive 67
Deafness, Autosomal Dominant 72 Deafness, Autosomal Recessive 103
Deafness, Autosomal Dominant 22 Deafness, Autosomal Recessive 37
Deafness, Autosomal Dominant 66 Deafness, Autosomal Dominant 10
Deafness, Autosomal Recessive 38 Deafness, Autosomal Dominant 5
Deafness, Autosomal Recessive 44 Deafness, Autosomal Recessive 39
Deafness, Autosomal Recessive 61 Deafness, Autosomal Recessive 14
Deafness, Autosomal Recessive 17 Deafness, Autosomal Recessive 97
Deafness, Autosomal Dominant 50 Deafness, Autosomal Recessive 13
Deafness, Autosomal Recessive 71 Deafness, Autosomal Dominant 28
Deafness, Autosomal Recessive 83 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 7 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 51 Deafness, Autosomal Recessive 31
Deafness, Autosomal Dominant 56 Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 33 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive 12 Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 18a Deafness Autosomal Recessive 106
Deafness, Autosomal Recessive 18b Deafness, Autosomal Dominant 59
Deafness, Autosomal Recessive 51 Deafness, Autosomal Recessive 93
Deafness, Autosomal Recessive 63 Deafness, Autosomal Recessive 2
Deafness, Autosomal Dominant 11 Deafness, Autosomal Dominant 8/12
Deafness, Autosomal Recessive 21 Deafness, Autosomal Recessive 24
Deafness, Autosomal Recessive 20 Deafness, Autosomal Recessive 62
Deafness, Autosomal Recessive 102 Deafness, Autosomal Dominant 48
Deafness, Autosomal Recessive 74 Deafness, Autosomal Recessive 84a
Deafness, Autosomal Dominant 73 Deafness, Autosomal Recessive 84b
Deafness, Autosomal Dominant 25 Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 41 Deafness, Autosomal Recessive 1a
Deafness, Autosomal Dominant 3a Deafness, Autosomal Dominant 3b
Deafness, Autosomal Recessive 1b Deafness, Autosomal Dominant 33
Deafness, Autosomal Dominant 53 Deafness, Autosomal Recessive 5
Deafness, Autosomal Dominant 9 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 35 Deafness, Autosomal Recessive 16
Deafness, Autosomal Dominant 71 Deafness, Autosomal Recessive 48
Deafness, Autosomal Dominant 68 Deafness, Autosomal Dominant 30
Deafness , Autosomal Recessive 86 Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 40 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 89 Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 3 Deafness, Autosomal Recessive 107
Deafness, Autosomal Dominant 20/26 Deafness, Autosomal Recessive 46
Deafness, Autosomal Recessive 77 Deafness, Autosomal Recessive 15
Deafness, Autosomal Recessive 68 Deafness, Autosomal Recessive 76
Deafness, Autosomal Dominant 4b Deafness, Autosomal Dominant 4a
Deafness, Autosomal Dominant 67 Deafness, Autosomal Recessive 65
Deafness, Autosomal Recessive 29 Deafness, Autosomal Recessive 8/10
Deafness, Autosomal Recessive 98 Deafness, Autosomal Dominant 17
Deafness, Autosomal Recessive 40 Deafness, Autosomal Recessive 28
Nonsyndromic Deafness Autosomal Dominant Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 47 Autosomal Recessive Nonsyndromic Deafness 8
Autosomal Dominant Nonsyndromic Deafness 12 Autosomal Dominant Nonsyndromic Deafness 20
Autosomal Dominant Nonsyndromic Deafness 6 Autosomal Dominant Nonsyndromic Deafness 69
Otof-Related Deafness

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

(show all 32)
id Related Disease Score Top Affiliating Genes
1 anal canal carcinoma 10.2 GJB2 TECTA
2 pigmented nodular adrenocortical disease, primary, 2 10.2 GJB2 OTOF
3 developmental dysplasia of the hip 1 10.1 GJB2 OTOF
4 diabetes persistent mullerian ducts 10.1 GJB2 OTOF
5 orofacial cleft 10.0 GJB2 OTOF
6 nodular lichen myxedematosus 10.0 GJB2 TECTA
7 ausems wittebol-post hennekam syndrome 9.9 GJB2 OTOF
8 deafness, autosomal recessive 9 9.8 GJB2 OTOF TECTA
9 deafness, autosomal dominant 11 9.8 GJB2 OTOF TECTA
10 nonsyndromic hydrocephalus, ccdc88c-related 9.8 GJB2 OTOF TECTA
11 fascioliasis 9.7 GJB2 SLC26A4
12 cataract 26, multiple types 9.7 GJB2 SLC26A4
13 brugada syndrome 9.7 CDH23 GJB2
14 severe combined immunodeficiency, athabascan type 9.7 GJB2 SLC26A4
15 viral laryngitis 9.7 GJB2 SLC26A4
16 deafness, autosomal recessive 9.6 GJB2 OTOF
17 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.4 GJB2 SLC26A4
18 microcephaly and chorioretinopathy, autosomal recessive, 3 9.4 GJB2 OTOF SLC26A4
19 deafness, autosomal recessive 53 9.4 GJB2 OTOF SLC26A4
20 bifid nose with or without anorectal and renal anomalies 9.3 CDH23 OTOF SLC26A4
21 ectodermal dysplasia 6, hair/nail type 9.3 CDH23 OTOF SLC26A4
22 hyperphenylalaninemia, mild, non-bh4-deficient 9.2 CDH23 GJB2 SLC26A4
23 pituitary adenoma 9.2 CDH23 GJB2 SLC26A4
24 mixed lacrimal gland cancer 9.2 CDH23 GJB2 SLC26A4
25 congenital muscular dystrophy due to lmna mutation 8.8 CDH23 GJB2 OTOF SLC26A4
26 dihydrolipoamide dehydrogenase deficiency 8.8 CDH23 GJB2 OTOF SLC26A4
27 endometritis 8.8 CDH23 GJB2 OTOF SLC26A4
28 autosomal recessive nonsyndromic deafness 8 8.4 CDH23 GJB2 OTOF SLC26A4 TECTA
29 narcissistic personality disorder 8.4 CDH23 GJB2 OTOF SLC26A4 TECTA
30 discrete papular lichen myxedematosus 8.4 CDH23 GJB2 OTOF SLC26A4 TECTA
31 autosomal recessive nonsyndromic deafness 8.4 CDH23 GJB2 OTOF SLC26A4 TECTA
32 leber congenital amaurosis 14 7.5 CDH23 DFNB26 GJB2 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:

54

Head And Neck- Ears:
hearing loss, sensorineural


Clinical features from OMIM:

605428

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 26:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.43 GJB2 OTOF SLC26A4 TECTA TUB CDH23
2 nervous system MP:0003631 9.1 CDH23 GJB2 OTOF SLC26A4 TECTA TUB

Drugs & Therapeutics for Deafness, Autosomal Recessive 26

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search 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

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:

id Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.1 CDH23 GJB2 OTOF SLC26A4 TECTA TUB

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

id Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.1 CDH23 GJB2 OTOF SLC26A4 TECTA TUB
2 photoreceptor cell maintenance GO:0045494 8.96 CDH23 TUB

Sources for Deafness, Autosomal Recessive 26

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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