DFNB63
MCID: DFN112
MIFTS: 26

Deafness, Autosomal Recessive 63 (DFNB63)

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

Aliases & Classifications for Deafness, Autosomal Recessive 63

MalaCards integrated aliases for Deafness, Autosomal Recessive 63:

Name: Deafness, Autosomal Recessive 63 57 29 13 6 73
Dfnb63 57 12 75
Autosomal Recessive Nonsyndromic Deafness 63 12 15
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 63 75
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 63 75
Deafness, Autosomal Recessive, Type 63 40
Deafness, Autosomal Recessive, 63 75
Autosomal Recessive Deafness 63 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
congenital onset
hearing loss is nonprogressive


HPO:

32
deafness, autosomal recessive 63:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 611451
Disease Ontology 12 DOID:0110515
ICD10 33 H90.3
MedGen 42 C1969621
MeSH 44 D006319
SNOMED-CT via HPO 69 258211005 700453005 27394002
UMLS 73 C1969621

Summaries for Deafness, Autosomal Recessive 63

UniProtKB/Swiss-Prot : 75 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 nonsyndromic deafness and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus. An important gene associated with Deafness, Autosomal Recessive 63 is LRTOMT (Leucine Rich Transmembrane And O-Methyltransferase Domain Containing). Affiliated tissues include brain, and related phenotypes are congenital sensorineural hearing impairment and no phenotypic analysis

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 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
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 105 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 32 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86 Otof-Related Deafness

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

# Related Disease Score Top Affiliating Genes
1 nonsyndromic deafness 29.8 LRTOMT MYH9
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
3 autosomal recessive nonsyndromic deafness 10.0
4 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.9 LRTOMT MYH9
5 deafness, autosomal recessive 7 9.6 SHANK2 STT3A TPCN2

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:

57
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
# Description HPO Frequency HPO Source Accession
1 congenital sensorineural hearing impairment 32 HP:0008527

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 63:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 8.8 MYH9 SHANK2 TPCN2

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 29 LRTOMT

Anatomical Context for Deafness, Autosomal Recessive 63

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

41
Brain

Publications for Deafness, Autosomal Recessive 63

Articles related to Deafness, Autosomal Recessive 63:

# Title Authors Year
1
Investigation of LRTOMT gene (locus DFNB63) mutations in Iranian patients with autosomal recessive non-syndromic hearing loss. ( 24551789 )
2013

Variations for Deafness, Autosomal Recessive 63

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

75
# 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.242G> A (p.Arg81Gln) single nucleotide variant Likely pathogenic rs137853185 GRCh37 Chromosome 11, 71817140: 71817140
2 LRTOMT NM_001145308.4(LRTOMT): c.242G> A (p.Arg81Gln) single nucleotide variant Likely pathogenic rs137853185 GRCh38 Chromosome 11, 72106094: 72106094
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.313T> C (p.Trp105Arg) single nucleotide variant Pathogenic rs137853186 GRCh38 Chromosome 11, 72106165: 72106165
5 LRTOMT NM_001145308.4(LRTOMT): c.328G> A (p.Glu110Lys) single nucleotide variant Pathogenic rs137853187 GRCh37 Chromosome 11, 71817226: 71817226
6 LRTOMT NM_001145308.4(LRTOMT): c.328G> A (p.Glu110Lys) single nucleotide variant Pathogenic rs137853187 GRCh38 Chromosome 11, 72106180: 72106180
7 LRTOMT NM_001145308.4(LRTOMT): c.333C> G (p.Tyr111Ter) single nucleotide variant Pathogenic rs137853188 GRCh37 Chromosome 11, 71817231: 71817231
8 LRTOMT NM_001145308.4(LRTOMT): c.333C> G (p.Tyr111Ter) single nucleotide variant Pathogenic rs137853188 GRCh38 Chromosome 11, 72106185: 72106185
9 LRTOMT NM_001145308.4(LRTOMT): c.358+4A> C single nucleotide variant Likely pathogenic rs545947177 GRCh37 Chromosome 11, 71817260: 71817260
10 LRTOMT NM_001145308.4(LRTOMT): c.358+4A> C single nucleotide variant Likely pathogenic rs545947177 GRCh38 Chromosome 11, 72106214: 72106214

Expression for Deafness, Autosomal Recessive 63

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

Pathways for Deafness, Autosomal Recessive 63

GO Terms for Deafness, Autosomal Recessive 63

Sources for Deafness, Autosomal Recessive 63

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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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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