MCID: DFN138
MIFTS: 27

Deafness, Autosomal Recessive 53

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

Aliases & Classifications for Deafness, Autosomal Recessive 53

MalaCards integrated aliases for Deafness, Autosomal Recessive 53:

Name: Deafness, Autosomal Recessive 53 54 29 13 69
Autosomal Recessive Nonsyndromic Deafness 53 12 14
Dfnb53 12 71
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:

54
Inheritance:
autosomal recessive

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


HPO:

32
deafness, autosomal recessive 53:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 609706
Disease Ontology 12 DOID:0110509
ICD10 33 H90.3
MedGen 40 C1864746
MeSH 42 D006319
SNOMED-CT via HPO 65 258211005 60700002

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 autosomal recessive nonsyndromic deafness 53, is related to dfnb53 nonsyndromic hearing loss and deafness and autosomal recessive nonsyndromic deafness, 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 hearing/vestibular/ear

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

id Related Disease Score Top Affiliating Genes
1 dfnb53 nonsyndromic hearing loss and deafness 11.0
2 autosomal recessive nonsyndromic deafness 9.4 COL11A2 LHFPL5
3 discrete papular lichen myxedematosus 9.1 COL11A2 LHFPL5
4 fibrochondrogenesis 2 8.9 COL11A2 LHFPL3 LHFPL5
5 sclerosing cholangitis, neonatal 8.9 COL11A2 LHFPL3 LHFPL5
6 psoriatic arthritis 8.8 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:

54

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


Clinical features from OMIM:

609706

Human phenotypes related to Deafness, Autosomal Recessive 53:

32
id Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407

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

26
id 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:

44
id 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:

id Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 53 29

Anatomical Context for Deafness, Autosomal Recessive 53

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

39
Brain

Publications for Deafness, Autosomal Recessive 53

Variations for Deafness, Autosomal Recessive 53

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

71
id 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
id 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:

id 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
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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