MCID: DFN103
MIFTS: 34

Deafness, Autosomal Recessive 1b malady

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

Aliases & Classifications for Deafness, Autosomal Recessive 1b

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Aliases & Descriptions for Deafness, Autosomal Recessive 1b:

Name: Deafness, Autosomal Recessive 1b 52 12 68
Deafness, Autosomal Recessive, 1b 70 27
Dfnb1b 11 70
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 1 70
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 1 70
 
Autosomal Recessive Nonsyndromic Deafness 1b 11
Deafness Neurosensory Autosomal Recessive 1 70
Autosomal Recessive Deafness 1b 11
Deafness Digenic Gjb2/gjb6 70
Nsrd1 70

Characteristics:

HPO:

64
deafness, autosomal recessive 1b:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 612645
Disease Ontology11 DOID:0110476
ICD1030 H90.3
MedGen37 C2675235
MeSH39 D006319

Summaries for Deafness, Autosomal Recessive 1b

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UniProtKB/Swiss-Prot:70 Deafness, autosomal recessive, 1B: A form of non-syndromic sensorineural 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 1b, also known as deafness, autosomal recessive, 1b, is related to gjb6-related dfnb 1 nonsyndromic hearing loss and deafness and deafness, autosomal recessive 1a, and has symptoms including vestibular dysfunction and hearing impairment. An important gene associated with Deafness, Autosomal Recessive 1b is GJB6 (Gap Junction Protein Beta 6), and among its related pathways are Myometrial Relaxation and Contraction Pathways and Signaling in Gap Junctions. Affiliated tissues include brain, and related mouse phenotype hearing/vestibular/ear.

Disease Ontology:11 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has material basis in mutation in the GJB6 gene on chromosome 13q12.

Description from OMIM:52 612645

Related Diseases for Deafness, Autosomal Recessive 1b

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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 32
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 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 Recessive 103
Deafness, Autosomal Dominant 22 Deafness, Autosomal Recessive 37
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 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 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 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 Recessive 48 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 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 105 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 47 Autosomal Recessive Nonsyndromic Deafness 97
Autosomal Dominant Nonsyndromic Deafness 66 Autosomal Dominant Nonsyndromic Deafness 68
Autosomal Dominant Nonsyndromic Deafness 69 Autosomal Dominant Nonsyndromic Deafness 70
Otof-Related Deafness

Diseases related to Deafness, Autosomal Recessive 1b via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
idRelated DiseaseScoreTop Affiliating Genes
1gjb6-related dfnb 1 nonsyndromic hearing loss and deafness11.0
2deafness, autosomal recessive 1a10.8
3deafness, autosomal dominant nonsyndromic sensorineural 310.8
4nonsyndromic hearing loss and deafness, mitochondrial9.9GJB2, GJB6
5myocardial infarction 29.9GJB2, GJB6
6noonan syndrome with multiple lentigines9.9GJB2, GJB6
7deafness, autosomal dominant 3a9.8GJB2, GJB6
8pseudohermaphrodism anorectal anomalies9.8GJB2, GJB6
9thumb deformity, alopecia, pigmentation anomaly9.8GJB2, GJB6
10punctate palmoplantar keratoderma type 29.8GJB2, GJB6
11continuous spike-wave during slow sleep syndrome9.8GJB2, GJB6
12troyer syndrome9.8GJB2, GJB6
13sublingual gland cancer9.8GJB2, GJB6
14ectodermal dysplasia 2, clouston type9.8GJB2, GJB6
15nonsyndromic hearing loss and deafness, autosomal recessive9.8GJB2, GJB6
16self-healing papular mucinosis9.8GJB2, GJB6
17erythrokeratodermia variabilis et progressiva9.8GJB2, GJB6
18dementia, familial british9.7GJB2, GJB6
19dandy-walker malformation with nasopharyngeal teratoma and diaphragmatic hernia9.7GJB2, GJB6
20dihydrolipoamide dehydrogenase deficiency9.7GJB2, GJB6
21hyperimmunoglobulin syndrome9.7GJB2, GJB6
22pyelitis9.6GJB2, GJB6
23cerebral artery occlusion9.6GJB2, GJB6
24localized lichen myxedematosus with mixed features of different subtypes9.5GJB2, GJB6
25small non-cleaved cell lymphoma9.5GJB2, GJB6
26autosomal recessive nonsyndromic deafness9.5GJB2, GJB6
27endometritis9.3GJB2, GJB6

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 1b:



Diseases related to deafness, autosomal recessive 1b

Symptoms & Phenotypes for Deafness, Autosomal Recessive 1b

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Symptoms by clinical synopsis from OMIM:

612645

Clinical features from OMIM:

612645

Human phenotypes related to Deafness, Autosomal Recessive 1b:

 64
id Description HPO Frequency HPO Source Accession
1 vestibular dysfunction64 rare (5%) HP:0001751
2 hearing impairment64 HP:0000365

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 1b according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1GJB2, GJB6

Drugs & Therapeutics for Deafness, Autosomal Recessive 1b

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Deafness, Autosomal Recessive 1b

Genetic Tests for Deafness, Autosomal Recessive 1b

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Genetic tests related to Deafness, Autosomal Recessive 1b:

id Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 1b27

Anatomical Context for Deafness, Autosomal Recessive 1b

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MalaCards organs/tissues related to Deafness, Autosomal Recessive 1b:

36
Brain

Publications for Deafness, Autosomal Recessive 1b

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Variations for Deafness, Autosomal Recessive 1b

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Clinvar genetic disease variations for Deafness, Autosomal Recessive 1b:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GJB2NM_004004.5(GJB2): c.35delG (p.Gly12Valfs)deletionPathogenicrs80338939GRCh37Chr 13, 20763686: 20763686
2GJB2;GJB6GJB6, 309-KB DELdeletionPathogenicChr na, -1: -1

Expression for genes affiliated with Deafness, Autosomal Recessive 1b

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Search GEO for disease gene expression data for Deafness, Autosomal Recessive 1b.

Pathways for genes affiliated with Deafness, Autosomal Recessive 1b

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GO Terms for genes affiliated with Deafness, Autosomal Recessive 1b

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Cellular components related to Deafness, Autosomal Recessive 1b according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cell junctionGO:00300549.6GJB2, GJB6
2connexin complexGO:00059229.5GJB2, GJB6
3gap junctionGO:00059219.1GJB2, GJB6

Biological processes related to Deafness, Autosomal Recessive 1b according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sensory perception of soundGO:00076059.1GJB2, GJB6

Sources for Deafness, Autosomal Recessive 1b

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet