MCID: DFN138
MIFTS: 27

Deafness, Autosomal Recessive 53

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

Aliases & Classifications for Deafness, Autosomal Recessive 53

MalaCards integrated aliases for Deafness, Autosomal Recessive 53:

Name: Deafness, Autosomal Recessive 53 53 28 13 69
Dfnb53 53 12 71
Autosomal Recessive Nonsyndromic Deafness 53 12 14
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 53 71
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 53 71
Deafness, Autosomal Recessive, 53 71
Autosomal Recessive Deafness 53 12

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
prelingual onset
some heterozygous carriers exhibit accelerated age-related hearing loss


HPO:

31
deafness, autosomal recessive 53:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 609706
Disease Ontology 12 DOID:0110509
ICD10 32 H90.3
MedGen 39 C1864746
MeSH 41 D006319
SNOMED-CT via HPO 65 258211005 60700002
UMLS 69 C1864746

Summaries for Deafness, Autosomal Recessive 53

UniProtKB/Swiss-Prot : 71 Deafness, autosomal recessive, 53: A form of non-syndromic sensorineural deafness characterized by prelingual, profound, non-progressive 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 53, also known as dfnb53, is related to ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus and autosomal recessive non-syndromic sensorineural deafness type dfnb, and has symptoms including sensorineural hearing impairment An important gene associated with Deafness, Autosomal Recessive 53 is COL11A2 (Collagen Type XI Alpha 2 Chain). Affiliated tissues include brain, and related phenotypes are Decreased viability after Maraba virus infection and Decreased viability after Maraba virus infection

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 COL11A2 gene on chromosome 6p21.

Description from OMIM: 609706

Related Diseases for Deafness, Autosomal Recessive 53

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 53 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
2 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.4 COL11A2 LHFPL5
3 nonsyndromic deafness 9.3 COL11A2 LHFPL5
4 deafness, autosomal recessive 66 9.2 COL11A2 LHFPL3 LHFPL5
5 deafness, autosomal recessive 67 9.1 COL11A2 LHFPL3 LHFPL5

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 53:



Diseases related to Deafness, Autosomal Recessive 53

Symptoms & Phenotypes for Deafness, Autosomal Recessive 53

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
hearing loss, nonprogressive profound, prelingual


Clinical features from OMIM:

609706

Human phenotypes related to Deafness, Autosomal Recessive 53:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407

GenomeRNAi Phenotypes related to Deafness, Autosomal Recessive 53 according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability after Maraba virus infection GR00252-A-1 8.92 LHFPL3
2 Decreased viability after Maraba virus infection GR00252-A-2 8.92 COL11A2 LHFPL3
3 Decreased viability after Maraba virus infection GR00252-A-3 8.92 COL11A2

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 53:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.62 COL11A2 LHFPL5

Drugs & Therapeutics for Deafness, Autosomal Recessive 53

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 53

Genetic Tests for Deafness, Autosomal Recessive 53

Genetic tests related to Deafness, Autosomal Recessive 53:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 53 28 COL11A2

Anatomical Context for Deafness, Autosomal Recessive 53

MalaCards organs/tissues related to Deafness, Autosomal Recessive 53:

38
Brain

Publications for Deafness, Autosomal Recessive 53

Articles related to Deafness, Autosomal Recessive 53:

# Title Authors Year
1
Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53. ( 25633957 )
2015
2
Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus. ( 16033917 )
2005

Variations for Deafness, Autosomal Recessive 53

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 53:

71
# Symbol AA change Variation ID SNP ID
1 COL11A2 p.Pro621Thr VAR_025276 rs121912952
2 COL11A2 p.Ala37Ser VAR_072731 rs606231410
3 COL11A2 p.Pro888Thr VAR_072732 rs864309523

ClinVar genetic disease variations for Deafness, Autosomal Recessive 53:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COL11A2 NM_080680.2(COL11A2): c.109G> T (p.Ala37Ser) single nucleotide variant Pathogenic rs606231410 GRCh38 Chromosome 6, 33189443: 33189443
2 COL11A2 NM_080680.2(COL11A2): c.2662C> A (p.Pro888Thr) single nucleotide variant Pathogenic rs864309523 GRCh37 Chromosome 6, 33141299: 33141299

Expression for Deafness, Autosomal Recessive 53

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 53.

Pathways for Deafness, Autosomal Recessive 53

GO Terms for Deafness, Autosomal Recessive 53

Biological processes related to Deafness, Autosomal Recessive 53 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 8.62 COL11A2 LHFPL5

Sources for Deafness, Autosomal Recessive 53

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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