DFNB53
MCID: DFN138
MIFTS: 32

Deafness, Autosomal Recessive 53 (DFNB53)

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

Aliases & Classifications for Deafness, Autosomal Recessive 53

MalaCards integrated aliases for Deafness, Autosomal Recessive 53:

Name: Deafness, Autosomal Recessive 53 56 29 13 6 71
Dfnb53 56 12 73
Autosomal Recessive Nonsyndromic Deafness 53 12 15
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 53 73
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 53 73
Deafness, Autosomal Recessive, Type 53 39
Deafness, Autosomal Recessive, 53 73
Autosomal Recessive Deafness 53 12

Characteristics:

OMIM:

56
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:

Disease Ontology 12 DOID:0110509
OMIM 56 609706
OMIM Phenotypic Series 56 PS220290
MeSH 43 D006319
ICD10 32 H90.3
MedGen 41 C1864746
SNOMED-CT via HPO 68 258211005 60700002
UMLS 71 C1864746

Summaries for Deafness, Autosomal Recessive 53

UniProtKB/Swiss-Prot : 73 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 otospondylomegaepiphyseal dysplasia and stickler syndrome. 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 sensorineural hearing impairment 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.

More information from OMIM: 609706 PS220290

Related Diseases for Deafness, Autosomal Recessive 53

Diseases in the Rare 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
Deafness, Autosomal Recessive 112 Deafness, Autosomal Recessive 113
Deafness, Autosomal Recessive 100 Deafness, Autosomal Recessive 94
Deafness, Autosomal Recessive 114 Deafness, Autosomal Recessive 115
Deafness, Autosomal Recessive 99 Deafness, Autosomal Dominant 37
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 3 Autosomal Recessive Nonsyndromic Deafness 32
Autosomal Recessive Nonsyndromic Deafness 36 Otof-Related Deafness
Familial Deafness

Diseases related to Deafness, Autosomal Recessive 53 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 otospondylomegaepiphyseal dysplasia 30.1 COL11A2 COL11A1
2 stickler syndrome 29.7 COL11A2 COL11A1
3 otospondylomegaepiphyseal dysplasia, autosomal dominant 29.3 OTOG COL11A2 COL11A1 CEACAM16
4 autosomal recessive non-syndromic sensorineural deafness type dfnb 29.3 OTOGL OTOG LHFPL5 COL11A2 CEACAM16
5 deafness, autosomal dominant 13 29.1 OTOG EYA4 COL11A2 CEACAM16 CCDC50
6 branchiootic syndrome 1 10.3
7 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
8 deafness, autosomal recessive 18b 10.2 OTOGL OTOG
9 deafness, autosomal dominant 21 10.1 EYA4 COL11A2
10 hereditary hearing loss and deafness 10.0 COL11A2 CCDC50
11 deafness, autosomal recessive 22 10.0 LHFPL5 CEACAM16
12 deafness, autosomal recessive 16 9.9 OTOGL LHFPL5
13 deafness, autosomal recessive 12 9.9 LHFPL5 CEACAM16
14 deafness, autosomal recessive 21 9.9 OTOGL OTOG CEACAM16
15 deafness, autosomal recessive 67 9.9 LHFPL5 LHFPL3
16 fibrochondrogenesis 1 9.9 COL11A2 COL11A1
17 fibrochondrogenesis 9.9 COL11A2 COL11A1
18 kohler's disease 9.9 COL11A2 COL11A1
19 vitreous syneresis 9.9 COL11A2 COL11A1
20 auditory system disease 9.9 EYA4 COL11A2
21 achondrogenesis, type ii 9.8 COL11A2 COL11A1
22 achondrogenesis 9.8 COL11A2 COL11A1
23 kniest dysplasia 9.8 COL11A2 COL11A1
24 schneckenbecken dysplasia 9.8 COL11A2 COL11A1
25 intervertebral disc disease 9.8 COL11A2 COL11A1
26 rare genetic deafness 9.8 OTOGL OTOG EYA4
27 spinal stenosis 9.8 COL11A2 COL11A1
28 deafness, autosomal dominant 44 9.7 EYA4 COL11A2 CCDC50
29 deafness, autosomal dominant 10 9.7 EYA4 COL11A2 CCDC50
30 spondyloepiphyseal dysplasia with congenital joint dislocations 9.7 COL11A2 COL11A1
31 spondyloepimetaphyseal dysplasia, matrilin-3 related 9.7 COL11A2 COL11A1
32 deafness, autosomal recessive 84b 9.7 OTOGL OTOG COL11A2 CEACAM16
33 multiple epiphyseal dysplasia 9.5 COL11A2 COL11A1
34 autosomal dominant non-syndromic sensorineural deafness type dfna 9.5 EYA4 COL11A2 CEACAM16 CCDC50
35 deafness, autosomal recessive 66 9.5 LHFPL5 LHFPL3 COL11A2 CEACAM16
36 retinal perforation 9.4 LHFPL5 COL11A2 COL11A1
37 odontochondrodysplasia 9.4 COL11A2 COL11A1
38 deafness, autosomal dominant 4b 9.3 OTOGL OTOG EYA4 COL11A2 CEACAM16
39 deafness, autosomal dominant 12 8.9 OTOGL OTOG EYA4 COL11A2 CEACAM16 CCDC50
40 sensorineural hearing loss 8.5 OTOGL LHFPL5 EYA4 COL11A2 COL11A1 CEACAM16
41 autosomal dominant nonsyndromic deafness 8.4 OTOGL OTOG LHFPL5 EYA4 COL11A2 CEACAM16
42 nonsyndromic deafness 8.4 OTOGL OTOG LHFPL5 EYA4 COL11A2 CEACAM16

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

Human phenotypes related to Deafness, Autosomal Recessive 53:

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

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
hearing loss, nonprogressive profound, prelingual

Clinical features from OMIM:

609706

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 53:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.1 CEACAM16 COL11A1 COL11A2 EYA4 LHFPL5 OTOG

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 29 COL11A2

Anatomical Context for Deafness, Autosomal Recessive 53

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

40
Brain

Publications for Deafness, Autosomal Recessive 53

Articles related to Deafness, Autosomal Recessive 53:

# Title Authors PMID Year
1
Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53. 61 56 6
25633957 2015
2
Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus. 61 56 6
16033917 2005
3
Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss. 61
16752389 2006

Variations for Deafness, Autosomal Recessive 53

ClinVar genetic disease variations for Deafness, Autosomal Recessive 53:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL11A2 NM_080679.2(COL11A2):c.109G>T (p.Ala37Ser)SNV Pathogenic 160366 rs606231410 6:33157220-33157220 6:33189443-33189443
2 COL11A2 NM_080679.2(COL11A2):c.2341C>A (p.Pro781Thr)SNV Pathogenic 218349 rs864309523 6:33141299-33141299 6:33173522-33173522
3 COL11A2 NM_080680.3(COL11A2):c.2754del (p.Gly919fs)deletion Likely pathogenic 634526 rs1562336726 6:33140873-33140873 6:33173096-33173096
4 COL11A2 NM_001163771.2(COL11A2):c.688G>T (p.Gly230Trp)SNV Conflicting interpretations of pathogenicity 225318 rs141430703 6:33154514-33154514 6:33186737-33186737
5 COL11A2 NM_080679.2(COL11A2):c.1540C>A (p.Pro514Thr)SNV Conflicting interpretations of pathogenicity 17129 rs121912952 6:33145920-33145920 6:33178143-33178143
6 COL11A2 NM_080679.2(COL11A2):c.3719C>A (p.Pro1240Gln)SNV Conflicting interpretations of pathogenicity 162981 rs142890313 6:33135285-33135285 6:33167508-33167508
7 COL11A2 NM_080679.2(COL11A2):c.2600C>T (p.Ala867Val)SNV Conflicting interpretations of pathogenicity 178927 rs376797260 6:33140133-33140133 6:33172356-33172356
8 COL11A2 NM_080679.2(COL11A2):c.798+1585G>ASNV Uncertain significance 198609 rs139116571 6:33152819-33152819 6:33185042-33185042
9 COL11A2 NM_080679.2(COL11A2):c.2968A>C (p.Thr990Pro)SNV Uncertain significance 391897 rs138045609 6:33139071-33139071 6:33171294-33171294
10 COL11A2 NM_001163771.2(COL11A2):c.865C>T (p.Pro289Ser)SNV Uncertain significance 424385 rs772701006 6:33154337-33154337 6:33186560-33186560

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

73
# 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

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

Cellular components related to Deafness, Autosomal Recessive 53 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen trimer GO:0005581 9.16 COL11A2 COL11A1
2 stereocilium tip GO:0032426 8.96 LHFPL5 CEACAM16
3 collagen type XI trimer GO:0005592 8.62 COL11A2 COL11A1

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

# Name GO ID Score Top Affiliating Genes
1 cartilage development GO:0051216 9.37 COL11A2 COL11A1
2 collagen fibril organization GO:0030199 9.32 COL11A2 COL11A1
3 skeletal system morphogenesis GO:0048705 9.26 COL11A2 COL11A1
4 sensory perception of sound GO:0007605 9.17 OTOGL OTOG EYA4 COL11A2 COL11A1 CEACAM16
5 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.16 LHFPL5 COL11A1
6 L-arabinose metabolic process GO:0046373 8.96 OTOGL OTOG

Molecular functions related to Deafness, Autosomal Recessive 53 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding, bridging GO:0030674 9.16 COL11A2 COL11A1
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.96 COL11A2 COL11A1
3 alpha-L-arabinofuranosidase activity GO:0046556 8.62 OTOGL OTOG

Sources for Deafness, Autosomal Recessive 53

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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