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DFNB1B
MCID: DFN103
MIFTS: 24

Deafness, Autosomal Recessive 1b (DFNB1B)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Symptoms & Phenotypes
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Aliases & Classifications for Deafness, Autosomal Recessive 1b

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MalaCards integrated aliases for Deafness, Autosomal Recessive 1b:

Name: Deafness, Autosomal Recessive 1b 57 29 13 6 73
Dfnb1b 57 12 75
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 1 75
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 1 75
Autosomal Recessive Nonsyndromic Deafness 1b 12
Deafness Neurosensory Autosomal Recessive 1 75
Deafness, Autosomal Recessive, Type 1b 40
Autosomal Recessive Deafness Type 1b 29
Deafness, Autosomal Recessive, 1b 75
Autosomal Recessive Deafness 1b 12
Deafness Digenic Gjb2/gjb6 75
Nsrd1 75

Characteristics:

OMIM:

57
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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Ear diseases Blood diseases Neuronal diseases Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

OMIM 57 612645
Disease Ontology 12 DOID:0110476
ICD10 33 H90.3
MedGen 42 C2675235
MeSH 44 D006319
UMLS 73 C2675235
Sources

Summaries for Deafness, Autosomal Recessive 1b

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UniProtKB/Swiss-Prot : 75 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. An important gene associated with Deafness, Autosomal Recessive 1b is GJB6 (Gap Junction Protein Beta 6). Affiliated tissues include brain, and related phenotypes are hearing impairment and vestibular dysfunction

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
Sources

Related Diseases for Deafness, Autosomal Recessive 1b

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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 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 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
Nonsyndromic Deafness 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 105 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 32 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86 Otof-Related Deafness

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

# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 1a 11.1
2 deafness, autosomal dominant nonsyndromic sensorineural 3 11.1

Sources

Symptoms & Phenotypes for Deafness, Autosomal Recessive 1b

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Symptoms via clinical synopsis from OMIM:

57
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
# Description HPO Frequency HPO Source Accession
1 hearing impairment 32 HP:0000365
2 vestibular dysfunction 32 occasional (7.5%) HP:0001751
Sources

Drugs & Therapeutics for Deafness, Autosomal Recessive 1b

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

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Genetic Tests for Deafness, Autosomal Recessive 1b

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Genetic tests related to Deafness, Autosomal Recessive 1b:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 1b 29 GJB6
2 Autosomal Recessive Deafness Type 1b 29
Sources

Anatomical Context for Deafness, Autosomal Recessive 1b

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

41
Brain
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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:

6 (show all 15)
# Gene Variation Type Significance SNP ID Assembly Location
1 GJB6 NM_006783.4(GJB6): c.31G> A (p.Gly11Arg) single nucleotide variant Pathogenic rs104894415 GRCh37 Chromosome 13, 20797589: 20797589
2 GJB6 NM_006783.4(GJB6): c.31G> A (p.Gly11Arg) single nucleotide variant Pathogenic rs104894415 GRCh38 Chromosome 13, 20223450: 20223450
3 GJB2; GJB6 GJB6, 309-KB DEL deletion Pathogenic
4 GJB6 NM_006783.4(GJB6): c.15G> A (p.Thr5=) single nucleotide variant Conflicting interpretations of pathogenicity rs150075979 GRCh37 Chromosome 13, 20797605: 20797605
5 GJB6 NM_006783.4(GJB6): c.15G> A (p.Thr5=) single nucleotide variant Conflicting interpretations of pathogenicity rs150075979 GRCh38 Chromosome 13, 20223466: 20223466
6 GJB6 NM_006783.4(GJB6): c.489G> A (p.Leu163=) single nucleotide variant Conflicting interpretations of pathogenicity rs35002004 GRCh37 Chromosome 13, 20797131: 20797131
7 GJB6 NM_006783.4(GJB6): c.489G> A (p.Leu163=) single nucleotide variant Conflicting interpretations of pathogenicity rs35002004 GRCh38 Chromosome 13, 20222992: 20222992
8 GJB6 NM_006783.4(GJB6): c.595T> A (p.Ser199Thr) single nucleotide variant Benign rs111033338 GRCh37 Chromosome 13, 20797025: 20797025
9 GJB6 NM_006783.4(GJB6): c.595T> A (p.Ser199Thr) single nucleotide variant Benign rs111033338 GRCh38 Chromosome 13, 20222886: 20222886
10 GJB6 NM_006783.4(GJB6): c.339T> A (p.Asn113Lys) single nucleotide variant Benign rs143766955 GRCh37 Chromosome 13, 20797281: 20797281
11 GJB6 NM_006783.4(GJB6): c.339T> A (p.Asn113Lys) single nucleotide variant Benign rs143766955 GRCh38 Chromosome 13, 20223142: 20223142
12 GJB6 NM_001110219.2(GJB6): c.301G> A (p.Glu101Lys) single nucleotide variant Uncertain significance rs571454176 GRCh38 Chromosome 13, 20223180: 20223180
13 GJB6 NM_001110219.2(GJB6): c.301G> A (p.Glu101Lys) single nucleotide variant Uncertain significance rs571454176 GRCh37 Chromosome 13, 20797319: 20797319
14 GJB6 NM_006783.4(GJB6): c.631T> G (p.Cys211Gly) single nucleotide variant Uncertain significance rs141752846 GRCh38 Chromosome 13, 20222850: 20222850
15 GJB6 NM_006783.4(GJB6): c.631T> G (p.Cys211Gly) single nucleotide variant Uncertain significance rs141752846 GRCh37 Chromosome 13, 20796989: 20796989
Sources

Expression for Deafness, Autosomal Recessive 1b

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

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GO Terms for Deafness, Autosomal Recessive 1b

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Sources for Deafness, Autosomal Recessive 1b

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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