MCID: DFN112
MIFTS: 35

Deafness, Autosomal Recessive 63

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

Aliases & Classifications for Deafness, Autosomal Recessive 63

MalaCards integrated aliases for Deafness, Autosomal Recessive 63:

Name: Deafness, Autosomal Recessive 63 54 29 13 69
Autosomal Recessive Nonsyndromic Deafness 63 12 14
Dfnb63 12 71
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:

54
Miscellaneous:
hearing loss is nonprogressive
congenital onset

Inheritance:
autosomal recessive


HPO:

32
deafness, autosomal recessive 63:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 611451
Disease Ontology 12 DOID:0110515
ICD10 33 H90.3
MedGen 40 C1969621
MeSH 42 D006319
SNOMED-CT via HPO 65 258211005 700453005

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 autosomal recessive nonsyndromic deafness 63, is related to autosomal recessive nonsyndromic deafness and dfnb63 nonsyndromic hearing loss and 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 Recessive 96 Deafness, Autosomal Recessive 36
Deafness, Autosomal Dominant 2b Deafness, Autosomal Recessive
Deafness, Autosomal Dominant 2a Deafness, Autosomal Recessive 108
Deafness, Autosomal Recessive 32 Deafness, Autosomal Recessive 105
Deafness, Autosomal Dominant 7 Deafness, Autosomal Dominant 49
Deafness, Autosomal Recessive 45 Deafness, Autosomal Recessive 9
Deafness, Autosomal Dominant 58 Deafness, Autosomal Recessive 70
Deafness, Autosomal Dominant 43 Deafness, Autosomal Recessive 88
Deafness, Autosomal Dominant 16 Deafness, Autosomal Recessive 27
Deafness, Autosomal Recessive 59 Deafness, Autosomal Recessive 6
Deafness, Autosomal Dominant 70 Deafness, Autosomal Recessive 42
Deafness, Autosomal Dominant 18 Deafness, Autosomal Dominant 44
Deafness, Autosomal Dominant 6/14/38 Deafness, Autosomal Recessive 25
Deafness, Autosomal Dominant 27 Deafness, Autosomal Recessive 55
Deafness, Autosomal Recessive 26 Deafness, Autosomal Dominant 24
Deafness, Autosomal Recessive 49 Deafness, Autosomal Dominant 1
Deafness, Autosomal Dominant 54 Deafness, Autosomal Dominant 15
Deafness, Autosomal Dominant 52 Deafness, Autosomal Recessive 101
Deafness, Autosomal Recessive 91 Deafness, Autosomal Dominant 21
Deafness, Autosomal Recessive 104 Deafness, Autosomal Recessive 66
Deafness, Autosomal Dominant 13 Deafness, Autosomal Recessive 53
Deafness, Autosomal Dominant 31 Deafness, Autosomal Recessive 67
Deafness, Autosomal Dominant 72 Deafness, Autosomal Recessive 103
Deafness, Autosomal Dominant 22 Deafness, Autosomal Recessive 37
Deafness, Autosomal Dominant 66 Deafness, Autosomal Dominant 10
Deafness, Autosomal Recessive 38 Deafness, Autosomal Dominant 5
Deafness, Autosomal Recessive 44 Deafness, Autosomal Recessive 39
Deafness, Autosomal Recessive 61 Deafness, Autosomal Recessive 14
Deafness, Autosomal Recessive 17 Deafness, Autosomal Recessive 97
Deafness, Autosomal Dominant 50 Deafness, Autosomal Recessive 13
Deafness, Autosomal Recessive 71 Deafness, Autosomal Dominant 28
Deafness, Autosomal Recessive 83 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 7 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 51 Deafness, Autosomal Recessive 31
Deafness, Autosomal Dominant 56 Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 33 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive 12 Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 18a Deafness Autosomal Recessive 106
Deafness, Autosomal Recessive 18b Deafness, Autosomal Dominant 59
Deafness, Autosomal Recessive 51 Deafness, Autosomal Recessive 93
Deafness, Autosomal Recessive 63 Deafness, Autosomal Recessive 2
Deafness, Autosomal Dominant 11 Deafness, Autosomal Dominant 8/12
Deafness, Autosomal Recessive 21 Deafness, Autosomal Recessive 24
Deafness, Autosomal Recessive 20 Deafness, Autosomal Recessive 62
Deafness, Autosomal Recessive 102 Deafness, Autosomal Dominant 48
Deafness, Autosomal Recessive 74 Deafness, Autosomal Recessive 84a
Deafness, Autosomal Dominant 73 Deafness, Autosomal Recessive 84b
Deafness, Autosomal Dominant 25 Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 41 Deafness, Autosomal Recessive 1a
Deafness, Autosomal Dominant 3a Deafness, Autosomal Dominant 3b
Deafness, Autosomal Recessive 1b Deafness, Autosomal Dominant 33
Deafness, Autosomal Dominant 53 Deafness, Autosomal Recessive 5
Deafness, Autosomal Dominant 9 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 35 Deafness, Autosomal Recessive 16
Deafness, Autosomal Dominant 71 Deafness, Autosomal Recessive 48
Deafness, Autosomal Dominant 68 Deafness, Autosomal Dominant 30
Deafness , Autosomal Recessive 86 Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 40 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 89 Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 3 Deafness, Autosomal Recessive 107
Deafness, Autosomal Dominant 20/26 Deafness, Autosomal Recessive 46
Deafness, Autosomal Recessive 77 Deafness, Autosomal Recessive 15
Deafness, Autosomal Recessive 68 Deafness, Autosomal Recessive 76
Deafness, Autosomal Dominant 4b Deafness, Autosomal Dominant 4a
Deafness, Autosomal Dominant 67 Deafness, Autosomal Recessive 65
Deafness, Autosomal Recessive 29 Deafness, Autosomal Recessive 8/10
Deafness, Autosomal Recessive 98 Deafness, Autosomal Dominant 17
Deafness, Autosomal Recessive 40 Deafness, Autosomal Recessive 28
Nonsyndromic Deafness Autosomal Dominant Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 47 Autosomal Recessive Nonsyndromic Deafness 8
Autosomal Dominant Nonsyndromic Deafness 12 Autosomal Dominant Nonsyndromic Deafness 20
Autosomal Dominant Nonsyndromic Deafness 6 Autosomal Dominant Nonsyndromic Deafness 69
Otof-Related Deafness

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

(show all 19)
id Related Disease Score Top Affiliating Genes
1 autosomal recessive nonsyndromic deafness 29.8 GJB2 LRTOMT MYO7A TMC1
2 dfnb63 nonsyndromic hearing loss and deafness 11.8
3 fascioliasis 10.4 GJB2 TMC1
4 diabetes persistent mullerian ducts 10.4 GJB2 MYO7A
5 x-linked nonsyndromic deafness 10.4 MYO7A TMC1
6 hyperphenylalaninemia, mild, non-bh4-deficient 10.4 GJB2 MYO7A
7 cataract 26, multiple types 10.4 GJB2 STT3A TMC1
8 orofacial cleft 10.4 GJB2 LRTOMT TMC1
9 severe combined immunodeficiency, athabascan type 10.3 GJB2 MYO7A TMC1
10 nodular lichen myxedematosus 10.3 GJB2 MYO7A TMC1
11 mixed lacrimal gland cancer 10.3 FGF3 GJB2 MYO7A
12 narcissistic personality disorder 10.3 GJB2 MYO7A TMC1
13 deafness, autosomal dominant 11 10.2 GJB2 MYO7A
14 deafness, autosomal dominant 36 10.2 GJB2 STT3A TMC1 TPCN2
15 discrete papular lichen myxedematosus 10.2 GJB2 LRTOMT MYO7A TMC1
16 endometritis 10.1 GJB2 MYO7A TMC1
17 nonsyndromic hydrocephalus, ccdc88c-related 10.0 GJB2 TMC1
18 nonsyndromic deafness 9.8
19 fibrosis of extraocular muscles, congenital, 2 4.1 ANO1 APPL1 CTTN FAM168A FCHSD2 FGF19

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:

54

Head And Neck- Eyes:
normal electroretinogram

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


Clinical features from OMIM:

611451

Human phenotypes related to Deafness, Autosomal Recessive 63:

32
id Description HPO Frequency HPO Source Accession
1 congenital sensorineural hearing impairment 32 HP:0008527

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 63:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.7 FGF19 FGF3 GJB2 KCNE3 LRTOMT MYO7A
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:

id Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 63 29

Anatomical Context for Deafness, Autosomal Recessive 63

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

39
Brain

Publications for Deafness, Autosomal Recessive 63

Variations for Deafness, Autosomal Recessive 63

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

71
id Symbol AA change Variation ID SNP ID
1 LRTOMT p.Leu16Pro VAR_047554
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
id Gene Variation Type Significance SNP ID Assembly Location
1 LRTOMT NM_001145308.4(LRTOMT): c.242G> A (p.Arg81Gln) single nucleotide variant Pathogenic rs137853185 GRCh37 Chromosome 11, 71817140: 71817140
2 LRTOMT NM_001145308.4(LRTOMT): c.313T> C (p.Trp105Arg) single nucleotide variant Pathogenic rs137853186 GRCh37 Chromosome 11, 71817211: 71817211
3 LRTOMT NM_001145308.4(LRTOMT): c.328G> A (p.Glu110Lys) single nucleotide variant Pathogenic rs137853187 GRCh37 Chromosome 11, 71817226: 71817226
4 LRTOMT NM_001145308.4(LRTOMT): c.333C> G (p.Tyr111Ter) single nucleotide variant Pathogenic rs137853188 GRCh37 Chromosome 11, 71817231: 71817231
5 LRTOMT NM_001145308.4(LRTOMT): c.358+4A> C single nucleotide variant Pathogenic/Likely pathogenic rs545947177 GRCh38 Chromosome 11, 72106214: 72106214
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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-mediated signaling GO:0048015 9.58 FGF19 FGF3 FGF4
2 phosphatidylinositol phosphorylation GO:0046854 9.54 FGF19 FGF3 FGF4
3 fibroblast growth factor receptor signaling pathway GO:0008543 9.5 FGF19 FGF3 FGF4
4 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.43 FGF19 FGF3 FGF4
5 auditory receptor cell development GO:0060117 9.16 LRTOMT TMC1
6 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.13 FGF19 FGF3 FGF4
7 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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