DFNB84B
MCID: DFN254
MIFTS: 21

Deafness, Autosomal Recessive 84b (DFNB84B)

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

Aliases & Classifications for Deafness, Autosomal Recessive 84b

MalaCards integrated aliases for Deafness, Autosomal Recessive 84b:

Name: Deafness, Autosomal Recessive 84b 58 30 13 6 74
Dfnb84b 58 12 76
Autosomal Recessive Nonsyndromic Deafness 84b 12
Deafness, Autosomal Recessive, Type 84b 41
Deafness, Autosomal Recessive, 84b 76
Autosomal Recessive Deafness 84b 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
deafness, autosomal recessive 84b:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110530
OMIM 58 614944
MeSH 45 D006319
ICD10 34 H90.3
UMLS 74 C3554159

Summaries for Deafness, Autosomal Recessive 84b

UniProtKB/Swiss-Prot : 76 Deafness, autosomal recessive, 84B: A form of non-syndromic deafness characterized by congenital, non- progressive, sensorineural, symmetric hearing loss. Vestibular hypofunction is rarely observed.

MalaCards based summary : Deafness, Autosomal Recessive 84b, is also known as dfnb84b. An important gene associated with Deafness, Autosomal Recessive 84b is OTOGL (Otogelin Like). Related phenotypes are vestibular hypofunction and hearing impairment

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that has material basis in mutation in the OTOGL gene on chromosome 12q21.

Description from OMIM: 614944

Related Diseases for Deafness, Autosomal Recessive 84b

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
Deafness, Autosomal Recessive 112 Deafness, Autosomal Recessive 113
Deafness, Autosomal Recessive 100 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 3
Autosomal Recessive Nonsyndromic Deafness 32 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86 Otof-Related Deafness

Symptoms & Phenotypes for Deafness, Autosomal Recessive 84b

Human phenotypes related to Deafness, Autosomal Recessive 84b:

33
# Description HPO Frequency HPO Source Accession
1 vestibular hypofunction 33 occasional (7.5%) HP:0001756
2 hearing impairment 33 HP:0000365

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
deafness, congenital nonprogressive sensorineural symmetric, moderate
vestibular hypofunction (rare)

Clinical features from OMIM:

614944

Drugs & Therapeutics for Deafness, Autosomal Recessive 84b

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 84b

Genetic Tests for Deafness, Autosomal Recessive 84b

Genetic tests related to Deafness, Autosomal Recessive 84b:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 84b 30 OTOGL

Anatomical Context for Deafness, Autosomal Recessive 84b

Publications for Deafness, Autosomal Recessive 84b

Articles related to Deafness, Autosomal Recessive 84b:

# Title Authors Year
1
Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss. ( 23122586 )
2012

Variations for Deafness, Autosomal Recessive 84b

ClinVar genetic disease variations for Deafness, Autosomal Recessive 84b:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 OTOGL NM_173591.3(OTOGL): c.1430delT (p.Val477Glufs) deletion Pathogenic GRCh38 Chromosome 12, 80255055: 80255055
2 OTOGL NM_173591.3(OTOGL): c.1430delT (p.Val477Glufs) deletion Pathogenic GRCh37 Chromosome 12, 80648835: 80648835
3 OTOGL NM_173591.3(OTOGL): c.547C> T (p.Arg183Ter) single nucleotide variant Pathogenic rs397514588 GRCh37 Chromosome 12, 80623121: 80623121
4 OTOGL NM_173591.3(OTOGL): c.547C> T (p.Arg183Ter) single nucleotide variant Pathogenic rs397514588 GRCh38 Chromosome 12, 80229341: 80229341
5 OTOGL NM_173591.3(OTOGL): c.5238+5G> A single nucleotide variant Pathogenic GRCh37 Chromosome 12, 80735947: 80735947
6 OTOGL NM_173591.3(OTOGL): c.5238+5G> A single nucleotide variant Pathogenic GRCh38 Chromosome 12, 80342167: 80342167
7 OTOGL NM_173591.3(OTOGL): c.5000C> G (p.Ser1667Ter) single nucleotide variant Likely pathogenic rs1477766714 GRCh38 Chromosome 12, 80339241: 80339241
8 OTOGL NM_173591.3(OTOGL): c.5000C> G (p.Ser1667Ter) single nucleotide variant Likely pathogenic rs1477766714 GRCh37 Chromosome 12, 80733021: 80733021
9 OTOGL NM_173591.3(OTOGL): c.4204A> T (p.Asn1402Tyr) single nucleotide variant Uncertain significance rs770438244 GRCh37 Chromosome 12, 80722476: 80722476
10 OTOGL NM_173591.3(OTOGL): c.4204A> T (p.Asn1402Tyr) single nucleotide variant Uncertain significance rs770438244 GRCh38 Chromosome 12, 80328696: 80328696
11 OTOGL NM_173591.3(OTOGL): c.6095-1G> A single nucleotide variant Pathogenic rs952235302 GRCh38 Chromosome 12, 80358670: 80358670
12 OTOGL NM_173591.3(OTOGL): c.6095-1G> A single nucleotide variant Pathogenic rs952235302 GRCh37 Chromosome 12, 80752450: 80752450

Expression for Deafness, Autosomal Recessive 84b

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 84b.

Pathways for Deafness, Autosomal Recessive 84b

GO Terms for Deafness, Autosomal Recessive 84b

Sources for Deafness, Autosomal Recessive 84b

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
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20 FMA
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31 HGMD
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33 HPO
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35 ICD10 via Orphanet
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
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