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DFNA2B
MCID: DFN099
MIFTS: 21

Deafness, Autosomal Dominant 2b (DFNA2B)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Related diseases Symptoms & Phenotypes
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Aliases & Classifications for Deafness, Autosomal Dominant 2b

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MalaCards integrated aliases for Deafness, Autosomal Dominant 2b:

Name: Deafness, Autosomal Dominant 2b 57 29 13 6 73
Dfna2b 57 12 75
Autosomal Dominant Nonsyndromic Deafness 2b 12
Deafness, Autosomal Dominant, Type 2b 40
Deafness, Autosomal Dominant, 2b 75
Autosomal Dominant Deafness 2b 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
deafness, autosomal dominant 2b:
Inheritance autosomal dominant 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 612644
Disease Ontology 12 DOID:0110559
ICD10 33 H90.3
MedGen 42 C2675236
MeSH 44 D006319
SNOMED-CT via HPO 69 263681008 232326009 48758008
UMLS 73 C2675236
Sources

Summaries for Deafness, Autosomal Dominant 2b

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Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the fourth decade of life with by high frequency progressive hearing loss and has material basis in mutation in the GJB3 gene on chromosome 1p34.3.

MalaCards based summary : Deafness, Autosomal Dominant 2b, also known as dfna2b, is related to deafness, autosomal recessive 1a. An important gene associated with Deafness, Autosomal Dominant 2b is GJB3 (Gap Junction Protein Beta 3). Related phenotype is high-frequency hearing impairment.

UniProtKB/Swiss-Prot : 75 Deafness, autosomal dominant, 2B: A form of non-syndromic sensorineural deafness characterized by progressive high frequency hearing loss in adulthood, with milder expression in females.

Description from OMIM: 612644
Sources

Related Diseases for Deafness, Autosomal Dominant 2b

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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 Dominant 2b via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 1a 9.7 GJB3 LOC105378642

Sources

Symptoms & Phenotypes for Deafness, Autosomal Dominant 2b

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Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss, bilateral high-frequency, sensorineural


Clinical features from OMIM:

612644

Human phenotypes related to Deafness, Autosomal Dominant 2b:

32
# Description HPO Frequency HPO Source Accession
1 high-frequency hearing impairment 32 HP:0005101
Sources

Drugs & Therapeutics for Deafness, Autosomal Dominant 2b

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Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 2b

Sources

Genetic Tests for Deafness, Autosomal Dominant 2b

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Genetic tests related to Deafness, Autosomal Dominant 2b:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 2b 29 GJB3
Sources

Anatomical Context for Deafness, Autosomal Dominant 2b

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Publications for Deafness, Autosomal Dominant 2b

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Variations for Deafness, Autosomal Dominant 2b

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UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 2b:

75
# Symbol AA change Variation ID SNP ID
1 GJB3 p.Ile141Val VAR_015087 rs74315320

ClinVar genetic disease variations for Deafness, Autosomal Dominant 2b:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GJB3 NM_024009.2(GJB3): c.547G> A (p.Glu183Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs74315318 GRCh37 Chromosome 1, 35250910: 35250910
2 GJB3 NM_024009.2(GJB3): c.547G> A (p.Glu183Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs74315318 GRCh38 Chromosome 1, 34785309: 34785309
3 GJB3 NM_024009.2(GJB3): c.538C> T (p.Arg180Ter) single nucleotide variant Uncertain significance rs74315319 GRCh37 Chromosome 1, 35250901: 35250901
4 GJB3 NM_024009.2(GJB3): c.538C> T (p.Arg180Ter) single nucleotide variant Uncertain significance rs74315319 GRCh38 Chromosome 1, 34785300: 34785300
Sources

Expression for Deafness, Autosomal Dominant 2b

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Search GEO for disease gene expression data for Deafness, Autosomal Dominant 2b.
Sources

Pathways for Deafness, Autosomal Dominant 2b

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GO Terms for Deafness, Autosomal Dominant 2b

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Sources for Deafness, Autosomal Dominant 2b

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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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