MCID: DFN248
MIFTS: 25

Deafness, Autosomal Recessive 18b

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

Aliases & Classifications for Deafness, Autosomal Recessive 18b

MalaCards integrated aliases for Deafness, Autosomal Recessive 18b:

Name: Deafness, Autosomal Recessive 18b 57 29 13 6 73
Dfnb18b 57 12 75
Autosomal Recessive Nonsyndromic Deafness 18b 12 15
Deafness, Autosomal Recessive, Type 18b 40
Deafness, Autosomal Recessive, 18b 75
Autosomal Recessive Deafness 18b 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
prelingual onset


HPO:

32
deafness, autosomal recessive 18b:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 614945
Disease Ontology 12 DOID:0110474
ICD10 33 H90.3
MeSH 44 D034381
UMLS 73 C3554163

Summaries for Deafness, Autosomal Recessive 18b

UniProtKB/Swiss-Prot : 75 Deafness, autosomal recessive, 18B: A form of non-syndromic deafness characterized by a moderate hearing impairment, which can be associated with vestibular dysfunction, and a flat to shallow "U" or slightly downsloping shaped audiograms.

MalaCards based summary : Deafness, Autosomal Recessive 18b, also known as dfnb18b, is related to deafness, autosomal recessive 21 and deafness, autosomal dominant 12. An important gene associated with Deafness, Autosomal Recessive 18b is OTOG (Otogelin). Related phenotypes are hearing impairment and hearing/vestibular/ear

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that has material basis in mutation in the OTOG gene on chromosome 11p15.

Description from OMIM: 614945

Related Diseases for Deafness, Autosomal Recessive 18b

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 Deafness, Autosomal Recessive 57
Deafness, Autosomal Recessive 109 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 36 Autosomal Recessive Nonsyndromic Deafness 86
Otof-Related Deafness

Diseases related to Deafness, Autosomal Recessive 18b via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 21 9.5 OTOG TECTA
2 deafness, autosomal dominant 12 9.5 OTOG TECTA
3 non-syndromic genetic deafness 9.4 OTOG TECTA
4 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.3 OTOG TECTA
5 autosomal dominant nonsyndromic deafness 9.2 OTOG TECTA
6 nonsyndromic deafness 9.0 OTOG TECTA

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 18b:



Diseases related to Deafness, Autosomal Recessive 18b

Symptoms & Phenotypes for Deafness, Autosomal Recessive 18b

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
deafness, nonprogressive, moderate
flat or shallow u-shaped audiogram
vestibular hyporeflexia


Clinical features from OMIM:

614945

Human phenotypes related to Deafness, Autosomal Recessive 18b:

32
# Description HPO Frequency HPO Source Accession
1 hearing impairment 32 HP:0000365

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 18b:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.62 OTOG TECTA

Drugs & Therapeutics for Deafness, Autosomal Recessive 18b

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 18b

Genetic Tests for Deafness, Autosomal Recessive 18b

Genetic tests related to Deafness, Autosomal Recessive 18b:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 18b 29 OTOG

Anatomical Context for Deafness, Autosomal Recessive 18b

Publications for Deafness, Autosomal Recessive 18b

Variations for Deafness, Autosomal Recessive 18b

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 18b:

75
# Symbol AA change Variation ID SNP ID
1 OTOG p.Pro2116Leu VAR_069250 rs397514607

ClinVar genetic disease variations for Deafness, Autosomal Recessive 18b:

6
(show all 25)
# Gene Variation Type Significance SNP ID Assembly Location
1 OTOG OTOG, 1-BP DEL, 5508C deletion Pathogenic
2 OTOG NM_001277269.1(OTOG): c.6347C> T (p.Pro2116Leu) single nucleotide variant Pathogenic rs397514607 GRCh37 Chromosome 11, 17634185: 17634185
3 OTOG NM_001277269.1(OTOG): c.6347C> T (p.Pro2116Leu) single nucleotide variant Pathogenic rs397514607 GRCh38 Chromosome 11, 17612638: 17612638
4 OTOG NM_001277269.1(OTOG): c.6559C> T (p.Arg2187Ter) single nucleotide variant Pathogenic rs397514608 GRCh37 Chromosome 11, 17635243: 17635243
5 OTOG NM_001277269.1(OTOG): c.6559C> T (p.Arg2187Ter) single nucleotide variant Pathogenic rs397514608 GRCh38 Chromosome 11, 17613696: 17613696
6 OTOG NM_001277269.1(OTOG): c.7003C> T (p.Arg2335Trp) single nucleotide variant Uncertain significance rs755149839 GRCh38 Chromosome 11, 17632121: 17632121
7 OTOG NM_001277269.1(OTOG): c.7003C> T (p.Arg2335Trp) single nucleotide variant Uncertain significance rs755149839 GRCh37 Chromosome 11, 17653668: 17653668
8 OTOG NM_001277269.1(OTOG): c.935A> G (p.His312Arg) single nucleotide variant Likely benign rs189159426 GRCh38 Chromosome 11, 17558218: 17558218
9 OTOG NM_001277269.1(OTOG): c.935A> G (p.His312Arg) single nucleotide variant Likely benign rs189159426 GRCh37 Chromosome 11, 17579765: 17579765
10 OTOG NM_001277269.1(OTOG): c.433G> A (p.Gly145Ser) single nucleotide variant Uncertain significance rs186893662 GRCh37 Chromosome 11, 17574923: 17574923
11 OTOG NM_001277269.1(OTOG): c.433G> A (p.Gly145Ser) single nucleotide variant Uncertain significance rs186893662 GRCh38 Chromosome 11, 17553376: 17553376
12 OTOG NM_001277269.1(OTOG): c.952G> A (p.Ala318Thr) single nucleotide variant Uncertain significance rs553079779 GRCh38 Chromosome 11, 17558235: 17558235
13 OTOG NM_001277269.1(OTOG): c.952G> A (p.Ala318Thr) single nucleotide variant Uncertain significance rs553079779 GRCh37 Chromosome 11, 17579782: 17579782
14 OTOG NM_001277269.1(OTOG): c.1876C> T (p.Arg626Trp) single nucleotide variant Uncertain significance rs201183725 GRCh38 Chromosome 11, 17570275: 17570275
15 OTOG NM_001277269.1(OTOG): c.1876C> T (p.Arg626Trp) single nucleotide variant Uncertain significance rs201183725 GRCh37 Chromosome 11, 17591822: 17591822
16 OTOG NM_001277269.1(OTOG): c.2500C> T (p.Gln834Ter) single nucleotide variant Likely pathogenic rs554847663 GRCh37 Chromosome 11, 17596437: 17596437
17 OTOG NM_001277269.1(OTOG): c.2500C> T (p.Gln834Ter) single nucleotide variant Likely pathogenic rs554847663 GRCh38 Chromosome 11, 17574890: 17574890
18 OTOG NM_001277269.1(OTOG): c.4877C> T (p.Pro1626Leu) single nucleotide variant Uncertain significance rs897939885 GRCh37 Chromosome 11, 17631688: 17631688
19 OTOG NM_001277269.1(OTOG): c.4877C> T (p.Pro1626Leu) single nucleotide variant Uncertain significance rs897939885 GRCh38 Chromosome 11, 17610141: 17610141
20 OTOG NM_001277269.1(OTOG): c.5381T> C (p.Leu1794Pro) single nucleotide variant Likely benign rs61744602 GRCh37 Chromosome 11, 17632192: 17632192
21 OTOG NM_001277269.1(OTOG): c.5381T> C (p.Leu1794Pro) single nucleotide variant Likely benign rs61744602 GRCh38 Chromosome 11, 17610645: 17610645
22 OTOG NM_001277269.1(OTOG): c.330C> G (p.Tyr110Ter) single nucleotide variant Pathogenic rs574007567 GRCh37 Chromosome 11, 17574667: 17574667
23 OTOG NM_001277269.1(OTOG): c.330C> G (p.Tyr110Ter) single nucleotide variant Pathogenic rs574007567 GRCh38 Chromosome 11, 17553120: 17553120
24 OTOG NM_001277269.1(OTOG): c.7453C> T (p.Arg2485Ter) single nucleotide variant Pathogenic rs866476223 GRCh37 Chromosome 11, 17655765: 17655765
25 OTOG NM_001277269.1(OTOG): c.7453C> T (p.Arg2485Ter) single nucleotide variant Pathogenic rs866476223 GRCh38 Chromosome 11, 17634218: 17634218

Expression for Deafness, Autosomal Recessive 18b

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 18b.

Pathways for Deafness, Autosomal Recessive 18b

GO Terms for Deafness, Autosomal Recessive 18b

Biological processes related to Deafness, Autosomal Recessive 18b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 8.62 OTOG TECTA

Sources for Deafness, Autosomal Recessive 18b

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
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