MCID: DFN103
MIFTS: 34

Deafness, Autosomal Recessive 1b

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

Aliases & Classifications for Deafness, Autosomal Recessive 1b

MalaCards integrated aliases for Deafness, Autosomal Recessive 1b:

Name: Deafness, Autosomal Recessive 1b 53 28 13 69
Dfnb1b 53 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
Autosomal Recessive Deafness Type 1b 28
Deafness, Autosomal Recessive, 1b 71
Autosomal Recessive Deafness 1b 12
Deafness Digenic Gjb2/gjb6 71
Nsrd1 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

31
deafness, autosomal recessive 1b:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 612645
Disease Ontology 12 DOID:0110476
ICD10 32 H90.3
MedGen 39 C2675235
MeSH 41 D006319
UMLS 69 C2675235

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 deafness, autosomal recessive 1a and deafness, autosomal dominant nonsyndromic sensorineural 3, 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 Gap junction trafficking. 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 Dominant 1 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 32 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 Recessive 105 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 Nonsyndromic Deafness
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 3 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86

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

(show all 30)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 1a 31.2 GJB2 GJB6
2 deafness, autosomal dominant nonsyndromic sensorineural 3 10.9
3 branchiootic syndrome 1 9.9
4 deafness, autosomal dominant 24 9.9 GJB2 GJB6
5 deafness, x-linked 2 9.9 GJB2 GJB6
6 kid syndrome 9.9 GJB2 GJB6
7 pseudoainhum 9.9 GJB2 GJB6
8 knuckle pads, leukonychia, and sensorineural deafness 9.9 GJB2 GJB6
9 congenital cytomegalovirus 9.8 GJB2 GJB6
10 hodgkin's lymphoma, nodular sclerosis 9.8 GJB2 GJB6
11 dfnb1 9.8 GJB2 GJB6
12 vohwinkel syndrome 9.8 GJB2 GJB6
13 knuckle pads 9.8 GJB2 GJB6
14 non-syndromic genetic deafness 9.8 GJB2 GJB6
15 vestibular disease 9.8 GJB2 GJB6
16 deafness, autosomal recessive 16 9.8 GJB2 GJB6
17 deafness, autosomal dominant 2a 9.8 GJB2 GJB6
18 erythrokeratodermia variabilis et progressiva 1 9.8 GJB2 GJB6
19 autosomal dominant non-syndromic sensorineural deafness type dfna 9.8 GJB2 GJB6
20 clouston syndrome 9.8 GJB2 GJB6
21 deafness, autosomal recessive 12 9.8 GJB2 GJB6
22 inner ear disease 9.7 GJB2 GJB6
23 keratitis, hereditary 9.7 GJB2 GJB6
24 auditory system disease 9.7 GJB2 GJB6
25 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.7 GJB2 GJB6
26 corneal disease 9.7 GJB2 GJB6
27 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.6 GJB2 GJB6
28 sensorineural hearing loss 9.6 GJB2 GJB6
29 skin disease 9.5 GJB2 GJB6
30 nonsyndromic deafness 9.4 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:

53
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:

31
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365
2 vestibular dysfunction 31 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:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 1b 28 GJB6
2 Autosomal Recessive Deafness Type 1b 28

Anatomical Context for Deafness, Autosomal Recessive 1b

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

38
Brain

Publications for Deafness, Autosomal Recessive 1b

Articles related to Deafness, Autosomal Recessive 1b:

# Title Authors Year
1
A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval. ( 7881423 )
1994

Variations for Deafness, Autosomal Recessive 1b

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh37 Chromosome 13, 20763686: 20763686
2 GJB2; GJB6 GJB6, 309-KB DEL deletion Pathogenic
3 GJB6 NC_000013.11 deletion Pathogenic GRCh37 Chromosome 13, 20802713: 21034768

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.45 GJB2 GJB6
2
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:

# 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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