MCID: DFN112
MIFTS: 37

Deafness, Autosomal Recessive 63

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

Aliases & Classifications for Deafness, Autosomal Recessive 63

MalaCards integrated aliases for Deafness, Autosomal Recessive 63:

Name: Deafness, Autosomal Recessive 63 53 28 13 69
Dfnb63 53 12 71
Autosomal Recessive Nonsyndromic Deafness 63 12 14
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 63 71
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 63 71
Deafness, Autosomal Recessive, 63 71
Autosomal Recessive Deafness 63 12

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
congenital onset
hearing loss is nonprogressive


HPO:

31
deafness, autosomal recessive 63:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 53 611451
Disease Ontology 12 DOID:0110515
ICD10 32 H90.3
MedGen 39 C1969621
MeSH 41 D006319
SNOMED-CT via HPO 65 258211005 700453005
UMLS 69 C1969621

Summaries for Deafness, Autosomal Recessive 63

UniProtKB/Swiss-Prot : 71 Deafness, autosomal recessive, 63: 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 63, also known as dfnb63, is related to autosomal recessive nonsyndromic deafness and nonsyndromic deafness, and has symptoms including congenital sensorineural hearing impairment An important gene associated with Deafness, Autosomal Recessive 63 is LRTOMT (Leucine Rich Transmembrane And O-Methyltransferase Domain Containing), and among its related pathways/superpathways is RhoGDI Pathway. Affiliated tissues include brain, and related phenotypes are hearing/vestibular/ear and nervous system

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the LRTOMT gene on chromosome 11q13.

Description from OMIM: 611451

Related Diseases for Deafness, Autosomal Recessive 63

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 Nonsyndromic Deafness
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 3 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86

Diseases related to Deafness, Autosomal Recessive 63 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive nonsyndromic deafness 30.2 GJB2 LRTOMT TMC1
2 nonsyndromic deafness 29.9 GJB2 LRTOMT MYO7A TMC1
3 deafness, autosomal recessive 3 10.3 GJB2 MYO7A
4 hodgkin's lymphoma, nodular sclerosis 10.3 GJB2 TMC1
5 dfnb1 10.3 GJB2 MYO7A
6 deafness, autosomal dominant 36 10.2 GJB2 STT3A TMC1
7 deafness, autosomal recessive 23 10.2 GJB2 MYO7A
8 deafness, autosomal recessive 30 10.2 GJB2 MYO7A TMC1
9 inner ear disease 10.2 FGF3 GJB2 MYO7A
10 autosomal dominant non-syndromic sensorineural deafness type dfna 10.2 GJB2 MYO7A TMC1
11 auditory system disease 10.2 GJB2 MYO7A TMC1
12 autosomal dominant nonsyndromic deafness 10.1 GJB2 MYO7A TMC1
13 deafness, autosomal recessive 2 10.1 GJB2 MYO7A
14 deafness, autosomal recessive 7 10.1 GJB2 STT3A TMC1 TPCN2
15 autosomal recessive non-syndromic sensorineural deafness type dfnb 10.1 GJB2 LRTOMT MYO7A TMC1
16 sensorineural hearing loss 10.0 GJB2 MYO7A TMC1
17 non-syndromic genetic deafness 9.9 GJB2 TMC1
18 branchiootic syndrome 1 9.9

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 63:



Diseases related to Deafness, Autosomal Recessive 63

Symptoms & Phenotypes for Deafness, Autosomal Recessive 63

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
hearing loss, sensorineural, prelingual, severe to profound (affecting all frequencies)
downsloping audiogram
no vestibular dysfunction

Head And Neck Eyes:
normal electroretinogram


Clinical features from OMIM:

611451

Human phenotypes related to Deafness, Autosomal Recessive 63:

31
# Description HPO Frequency HPO Source Accession
1 congenital sensorineural hearing impairment 31 HP:0008527

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 63:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.7 GJB2 KCNE3 LRTOMT MYO7A TMC1 FGF19
2 nervous system MP:0003631 9.65 ANO1 FGF19 FGF3 GJB2 KCNE3 LRTOMT
3 no phenotypic analysis MP:0003012 9.23 APPL1 CTTN FGF3 GJB2 KCNE3 MYO7A

Drugs & Therapeutics for Deafness, Autosomal Recessive 63

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 63

Genetic Tests for Deafness, Autosomal Recessive 63

Genetic tests related to Deafness, Autosomal Recessive 63:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 63 28 LRTOMT

Anatomical Context for Deafness, Autosomal Recessive 63

MalaCards organs/tissues related to Deafness, Autosomal Recessive 63:

38
Brain

Publications for Deafness, Autosomal Recessive 63

Articles related to Deafness, Autosomal Recessive 63:

# Title Authors Year
1
Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3. ( 17066295 )
2007
2
A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2-q13.4. ( 17211611 )
2007
3
Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB63 to chromosome 11q13.3-q13.4. ( 17166180 )
2007

Variations for Deafness, Autosomal Recessive 63

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 63:

71
# Symbol AA change Variation ID SNP ID
1 LRTOMT p.Leu16Pro VAR_047554 rs891068154
2 LRTOMT p.Arg158His VAR_047555 rs758115449
3 LRTOMT p.Arg208Gln VAR_047556 rs61741195
4 LRTOMT p.Arg81Gln VAR_054955 rs137853185
5 LRTOMT p.Trp105Arg VAR_054956 rs137853186
6 LRTOMT p.Glu110Lys VAR_054957 rs137853187

ClinVar genetic disease variations for Deafness, Autosomal Recessive 63:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LRTOMT NM_001145308.4(LRTOMT): c.358+4A> C single nucleotide variant Pathogenic/Likely pathogenic rs545947177 GRCh37 Chromosome 11, 71817260: 71817260
2 LRTOMT NM_001145308.4(LRTOMT): c.242G> A (p.Arg81Gln) single nucleotide variant Pathogenic rs137853185 GRCh37 Chromosome 11, 71817140: 71817140
3 LRTOMT NM_001145308.4(LRTOMT): c.313T> C (p.Trp105Arg) single nucleotide variant Pathogenic rs137853186 GRCh37 Chromosome 11, 71817211: 71817211
4 LRTOMT NM_001145308.4(LRTOMT): c.328G> A (p.Glu110Lys) single nucleotide variant Pathogenic rs137853187 GRCh37 Chromosome 11, 71817226: 71817226
5 LRTOMT NM_001145308.4(LRTOMT): c.333C> G (p.Tyr111Ter) single nucleotide variant Pathogenic rs137853188 GRCh37 Chromosome 11, 71817231: 71817231
6 LRTOMT NM_001145308.4(LRTOMT): c.613_614insAGCT (p.Ser207Alafs) insertion Pathogenic rs797044907 GRCh37 Chromosome 11, 71819708: 71819709

Expression for Deafness, Autosomal Recessive 63

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 63.

Pathways for Deafness, Autosomal Recessive 63

Pathways related to Deafness, Autosomal Recessive 63 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.3 FGF19 FGF3 FGF4 MYO7A

GO Terms for Deafness, Autosomal Recessive 63

Biological processes related to Deafness, Autosomal Recessive 63 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol phosphorylation GO:0046854 9.5 FGF19 FGF3 FGF4
2 fibroblast growth factor receptor signaling pathway GO:0008543 9.43 FGF19 FGF3 FGF4
3 auditory receptor cell development GO:0060117 9.16 LRTOMT TMC1
4 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.13 FGF19 FGF3 FGF4
5 sensory perception of sound GO:0007605 8.92 GJB2 LRTOMT MYO7A TMC1

Molecular functions related to Deafness, Autosomal Recessive 63 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.43 FGF19 FGF3 FGF4
2 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.33 FGF19 FGF3 FGF4
3 1-phosphatidylinositol-3-kinase activity GO:0016303 9.13 FGF19 FGF3 FGF4
4 fibroblast growth factor receptor binding GO:0005104 8.8 FGF19 FGF3 FGF4

Sources for Deafness, Autosomal Recessive 63

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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