DFNB84B
MCID: DFN254
MIFTS: 29

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 56 29 13 6 71
Dfnb84b 56 12 73
Autosomal Recessive Nonsyndromic Deafness 84b 12 15
Deafness, Autosomal Recessive, Type 84b 39
Deafness, Autosomal Recessive, 84b 73
Autosomal Recessive Deafness 84b 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
deafness, autosomal recessive 84b:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110530
OMIM 56 614944
OMIM Phenotypic Series 56 PS220290
MeSH 43 D006319
ICD10 32 H90.3
UMLS 71 C3554159

Summaries for Deafness, Autosomal Recessive 84b

UniProtKB/Swiss-Prot : 73 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, also known as dfnb84b, is related to deafness, autosomal recessive 16 and vestibular disease. 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.

More information from OMIM: 614944 PS220290

Related Diseases for Deafness, Autosomal Recessive 84b

Diseases in the Rare 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 Deafness, Autosomal Recessive 94
Deafness, Autosomal Recessive 114 Deafness, Autosomal Recessive 115
Deafness, Autosomal Recessive 99 Deafness, Autosomal Dominant 37
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 Otof-Related Deafness
Familial Deafness

Diseases related to Deafness, Autosomal Recessive 84b via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 16 9.9 STRC OTOGL
2 vestibular disease 9.9 STRC OTOG
3 autosomal recessive nonsyndromic deafness 9.8 STRC OTOG
4 deafness, autosomal recessive 22 9.8 STRC CEACAM16
5 deafness, autosomal recessive 12 9.7 STRC CEACAM16
6 deafness, autosomal recessive 18b 9.7 STRC OTOGL OTOG
7 auditory system disease 9.6 STRC COL11A2
8 autosomal dominant non-syndromic sensorineural deafness type dfna 9.6 COL11A2 CEACAM16
9 rare genetic deafness 9.6 STRC OTOGL OTOG
10 deafness, autosomal recessive 21 9.6 OTOGL OTOG CEACAM16
11 deafness, autosomal dominant 13 9.5 OTOG COL11A2 CEACAM16
12 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.5 STRC COL11A2
13 deafness, autosomal recessive 66 9.4 STRC COL11A2 CEACAM16
14 deafness, autosomal recessive 53 9.2 OTOGL OTOG COL11A2 CEACAM16
15 deafness, autosomal dominant 12 9.2 OTOGL OTOG COL11A2 CEACAM16
16 otospondylomegaepiphyseal dysplasia, autosomal dominant 9.1 STRC OTOG COL11A2 CEACAM16
17 sensorineural hearing loss 9.1 STRC OTOGL COL11A2 CEACAM16
18 autosomal recessive non-syndromic sensorineural deafness type dfnb 8.8 STRC OTOGL OTOG COL11A2 CEACAM16
19 autosomal dominant nonsyndromic deafness 8.8 STRC OTOGL OTOG COL11A2 CEACAM16
20 nonsyndromic deafness 8.8 STRC OTOGL OTOG COL11A2 CEACAM16
21 deafness, autosomal dominant 4b 8.6 POLR1C OTOGL OTOG COL11A2 CEACAM16

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 84b:



Diseases related to Deafness, Autosomal Recessive 84b

Symptoms & Phenotypes for Deafness, Autosomal Recessive 84b

Human phenotypes related to Deafness, Autosomal Recessive 84b:

31
# Description HPO Frequency HPO Source Accession
1 vestibular hypofunction 31 occasional (7.5%) HP:0001756
2 hearing impairment 31 HP:0000365

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
deafness, congenital nonprogressive sensorineural symmetric, moderate
vestibular hypofunction (rare)

Clinical features from OMIM:

614944

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 84b:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.92 CEACAM16 COL11A2 OTOG STRC

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 29 OTOGL

Anatomical Context for Deafness, Autosomal Recessive 84b

Publications for Deafness, Autosomal Recessive 84b

Articles related to Deafness, Autosomal Recessive 84b:

# Title Authors PMID Year
1
Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss. 56 6
23122586 2012
2
Otogelin, otogelin-like, and stereocilin form links connecting outer hair cell stereocilia to each other and the tectorial membrane. 61
31776257 2019

Variations for Deafness, Autosomal Recessive 84b

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 OTOGL NM_173591.3(OTOGL):c.1430del (p.Val477fs)deletion Pathogenic 39778 rs1233562246 12:80648835-80648835 12:80255055-80255055
2 OTOGL NM_173591.3(OTOGL):c.547C>T (p.Arg183Ter)SNV Pathogenic 39779 rs397514588 12:80623121-80623121 12:80229341-80229341
3 OTOGL NM_173591.3(OTOGL):c.5238+5G>ASNV Pathogenic 39780 rs902734999 12:80735947-80735947 12:80342167-80342167
4 OTOGL NM_173591.3(OTOGL):c.1558C>T (p.Gln520Ter)SNV Pathogenic 503724 rs371465450 12:80648963-80648963 12:80255183-80255183
5 OTOGL NM_173591.3(OTOGL):c.6095-1G>ASNV Pathogenic 522356 rs952235302 12:80752450-80752450 12:80358670-80358670
6 OTOGL NM_001368062.1(OTOGL):c.4372_4373TG[1] (p.Cys1458fs)short repeat Likely pathogenic 635492 12:80729854-80729855 12:80336074-80336075
7 OTOGL NM_173591.3(OTOGL):c.5000C>G (p.Ser1667Ter)SNV Likely pathogenic 495109 rs1477766714 12:80733021-80733021 12:80339241-80339241
8 OTOGL NM_173591.3(OTOGL):c.4204A>T (p.Asn1402Tyr)SNV Uncertain significance 505424 rs770438244 12:80722476-80722476 12:80328696-80328696
9 OTOGL undetermined variant not provided 684488 12:80696112-80696398

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

Cellular components related to Deafness, Autosomal Recessive 84b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 stereocilium tip GO:0032426 8.62 STRC CEACAM16

Biological processes related to Deafness, Autosomal Recessive 84b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.02 STRC OTOGL OTOG COL11A2 CEACAM16
2 L-arabinose metabolic process GO:0046373 8.96 OTOGL OTOG

Molecular functions related to Deafness, Autosomal Recessive 84b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 alpha-L-arabinofuranosidase activity GO:0046556 8.62 OTOGL OTOG

Sources for Deafness, Autosomal Recessive 84b

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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