MCID: DFN103
MIFTS: 34

Deafness, Autosomal Recessive 1b

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

Aliases & Classifications for Deafness, Autosomal Recessive 1b

MalaCards integrated aliases for Deafness, Autosomal Recessive 1b:

Name: Deafness, Autosomal Recessive 1b 54 29 13 69
Dfnb1b 12 71
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 1 71
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 1 71
Autosomal Recessive Nonsyndromic Deafness 1b 12
Deafness Neurosensory Autosomal Recessive 1 71
Deafness, Autosomal Recessive, 1b 71
Autosomal Recessive Deafness 1b 12
Deafness Digenic Gjb2/gjb6 71
Nsrd1 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
about half of patients with gjb2/gjb6 deafness report vestibular symptoms


HPO:

32
deafness, autosomal recessive 1b:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 612645
Disease Ontology 12 DOID:0110476
ICD10 33 H90.3
MedGen 40 C2675235
MeSH 42 D006319

Summaries for Deafness, Autosomal Recessive 1b

UniProtKB/Swiss-Prot : 71 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 dfnb1b, is related to gjb6-related dfnb 1 nonsyndromic hearing loss and deafness and deafness, autosomal recessive 1a, and has symptoms including hearing impairment and vestibular dysfunction. An important gene associated with Deafness, Autosomal Recessive 1b is GJB6 (Gap Junction Protein Beta 6), and among its related pathways/superpathways are Myometrial Relaxation and Contraction Pathways and Signaling in Gap Junctions. Affiliated tissues include brain.

Disease Ontology : 12 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: 612645

Related Diseases for Deafness, Autosomal Recessive 1b

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 1b via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
id Related Disease Score Top Affiliating Genes
1 gjb6-related dfnb 1 nonsyndromic hearing loss and deafness 10.8
2 deafness, autosomal recessive 1a 10.8
3 deafness, autosomal dominant nonsyndromic sensorineural 3 10.8
4 myocardial infarction 2 9.9 GJB2 GJB6
5 myopia 22, autosomal dominant 9.9 GJB2 GJB6
6 deafness, autosomal dominant 3a 9.9 GJB2 GJB6
7 kikuchi disease 9.9 GJB2 GJB6
8 pseudocholinesterase deficiency 9.9 GJB2 GJB6
9 congenital disorder of glycosylation with developmental anomaly 9.9 GJB2 GJB6
10 fascioliasis 9.8 GJB2 GJB6
11 diabetes persistent mullerian ducts 9.8 GJB2 GJB6
12 troyer syndrome 9.8 GJB2 GJB6
13 keratoderma, palmoplantar, with deafness 9.8 GJB2 GJB6
14 nonsyndromic hydrocephalus, ccdc88c-related 9.8 GJB2 GJB6
15 microcephaly and chorioretinopathy, autosomal recessive, 3 9.8 GJB2 GJB6
16 viral laryngitis 9.8 GJB2 GJB6
17 deafness, autosomal dominant 2a 9.8 GJB2 GJB6
18 erythrokeratodermia variabilis et progressiva 1 9.8 GJB2 GJB6
19 dementia, familial british 9.7 GJB2 GJB6
20 nodular lichen myxedematosus 9.7 GJB2 GJB6
21 ausems wittebol-post hennekam syndrome 9.7 GJB2 GJB6
22 narcissistic personality disorder 9.7 GJB2 GJB6
23 mixed lacrimal gland cancer 9.7 GJB2 GJB6
24 dihydrolipoamide dehydrogenase deficiency 9.6 GJB2 GJB6
25 cerebral artery occlusion 9.6 GJB2 GJB6
26 discrete papular lichen myxedematosus 9.5 GJB2 GJB6
27 autosomal recessive nonsyndromic deafness 9.5 GJB2 GJB6
28 endometritis 9.4 GJB2 GJB6
29 small non-cleaved cell lymphoma 9.2 GJB2 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

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Ears:
hearing loss, sensorineural, prelingual profound
vestibular dysfunction (in some patients)


Clinical features from OMIM:

612645

Human phenotypes related to Deafness, Autosomal Recessive 1b:

32
id Description HPO Frequency HPO Source Accession
1 hearing impairment 32 HP:0000365
2 vestibular dysfunction 32 occasional (7.5%) HP:0001751

Drugs & Therapeutics for Deafness, Autosomal Recessive 1b

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

Genetic Tests for Deafness, Autosomal Recessive 1b

Genetic tests related to Deafness, Autosomal Recessive 1b:

id Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 1b 29

Anatomical Context for Deafness, Autosomal Recessive 1b

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

39
Brain

Publications for Deafness, Autosomal Recessive 1b

Variations for Deafness, Autosomal Recessive 1b

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GJB2; GJB6 GJB6, 309-KB DEL deletion Pathogenic
2 GJB6 NC_000013.11 deletion Pathogenic GRCh38 Chromosome 13, 20228574: 20460629
3 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh37 Chromosome 13, 20763686: 20763686

Expression for Deafness, Autosomal Recessive 1b

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

Pathways for Deafness, Autosomal Recessive 1b

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.65 GJB2 GJB6
2
Show member pathways
11.35 GJB2 GJB6
3
Show member pathways
10.61 GJB2 GJB6

GO Terms for Deafness, Autosomal Recessive 1b

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

id Name GO ID Score Top Affiliating Genes
1 gap junction GO:0005921 8.96 GJB2 GJB6
2 connexin complex GO:0005922 8.62 GJB2 GJB6

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

id Name GO ID Score Top Affiliating Genes
1 response to lipopolysaccharide GO:0032496 9.32 GJB2 GJB6
2 aging GO:0007568 9.26 GJB2 GJB6
3 sensory perception of sound GO:0007605 9.16 GJB2 GJB6
4 inner ear development GO:0048839 8.96 GJB2 GJB6
5 cell communication GO:0007154 8.62 GJB2 GJB6

Sources for Deafness, Autosomal Recessive 1b

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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