DFNB53
MCID: DFN138
MIFTS: 27

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 57 29 13 6 72
Dfnb53 57 12 74
Autosomal Recessive Nonsyndromic Deafness 53 12 15
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 53 74
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 53 74
Deafness, Autosomal Recessive, Type 53 40
Deafness, Autosomal Recessive, 53 74
Autosomal Recessive Deafness 53 12

Characteristics:

OMIM:

57
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:

Disease Ontology 12 DOID:0110509
MeSH 44 D006319
ICD10 33 H90.3
MedGen 42 C1864746
UMLS 72 C1864746

Summaries for Deafness, Autosomal Recessive 53

UniProtKB/Swiss-Prot : 74 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 autosomal recessive non-syndromic sensorineural deafness type dfnb and branchiootic syndrome 1. 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 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.

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 Familial Deafness

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

# Related Disease Score Top Affiliating Genes
1 autosomal recessive non-syndromic sensorineural deafness type dfnb 29.4 LHFPL5 COL11A2
2 branchiootic syndrome 1 10.3
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
4 otospondylomegaepiphyseal dysplasia, autosomal dominant 10.1
5 deafness, autosomal dominant 13 10.1
6 otospondylomegaepiphyseal dysplasia 10.1
7 stickler syndrome 10.1
8 nonsyndromic deafness 9.1 LHFPL5 COL11A2
9 deafness, autosomal recessive 66 8.9 LHFPL5 LHFPL3 COL11A2
10 deafness, autosomal recessive 67 8.9 LHFPL5 LHFPL3 COL11A2

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:

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss, nonprogressive profound, prelingual

Clinical features from OMIM:

609706

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

26
# 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:

46
# 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 29 COL11A2

Anatomical Context for Deafness, Autosomal Recessive 53

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

41
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. 38 8 71
25633957 2015
2
Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus. 38 8 71
16033917 2005
3
Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss. 38
16752389 2006

Variations for Deafness, Autosomal Recessive 53

ClinVar genetic disease variations for Deafness, Autosomal Recessive 53:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 COL11A2 NM_080679.2(COL11A2): c.2341C> A (p.Pro781Thr) single nucleotide variant Pathogenic rs864309523 6:33141299-33141299 6:33173522-33173522
2 COL11A2 NM_080679.2(COL11A2): c.109G> T (p.Ala37Ser) single nucleotide variant Pathogenic rs606231410 6:33157220-33157220 6:33189443-33189443
3 COL11A2 NM_080679.2(COL11A2): c.2433del (p.Gly812fs) deletion Likely pathogenic 6:33140873-33140873 6:33173097-33173097
4 COL11A2 NM_001163771.2(COL11A2): c.688G> T (p.Gly230Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs141430703 6:33154514-33154514 6:33186737-33186737
5 COL11A2 NM_080679.2(COL11A2): c.1540C> A (p.Pro514Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs121912952 6:33145920-33145920 6:33178143-33178143
6 COL11A2 NM_080679.2(COL11A2): c.3719C> A (p.Pro1240Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs142890313 6:33135285-33135285 6:33167508-33167508
7 COL11A2 NM_080679.2(COL11A2): c.2600C> T (p.Ala867Val) single nucleotide variant Conflicting interpretations of pathogenicity rs376797260 6:33140133-33140133 6:33172356-33172356
8 COL11A2 NM_080679.2(COL11A2): c.798+1585G> A single nucleotide variant Uncertain significance rs139116571 6:33152819-33152819 6:33185042-33185042
9 COL11A2 NM_080679.2(COL11A2): c.2968A> C (p.Thr990Pro) single nucleotide variant Uncertain significance rs138045609 6:33139071-33139071 6:33171294-33171294

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

74
# 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

Sources for Deafness, Autosomal Recessive 53

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69 SNOMED-CT via HPO
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