MCID: DFN260
MIFTS: 31

Deafness, Autosomal Recessive 89

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

Aliases & Classifications for Deafness, Autosomal Recessive 89

MalaCards integrated aliases for Deafness, Autosomal Recessive 89:

Name: Deafness, Autosomal Recessive 89 57 29 13 6 73
Dfnb89 57 12 75
Autosomal Recessive Nonsyndromic Deafness 89 12 15
Deafness, Autosomal Recessive, Type 89 40
Deafness, Autosomal Recessive, 89 75
Autosomal Recessive Deafness 89 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
prelingual onset


HPO:

32
deafness, autosomal recessive 89:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613916
Disease Ontology 12 DOID:0110534
ICD10 33 H90.3
MedGen 42 C3151351
MeSH 44 D006319
UMLS 73 C3151351

Summaries for Deafness, Autosomal Recessive 89

UniProtKB/Swiss-Prot : 75 Deafness, autosomal recessive, 89: A form of non-syndromic deafness characterized by bilateral, prelingual, moderate to severe hearing loss affecting all frequencies.

MalaCards based summary : Deafness, Autosomal Recessive 89, also known as dfnb89, is related to telogen effluvium and hypotrichosis, congenital, with juvenile macular dystrophy. An important gene associated with Deafness, Autosomal Recessive 89 is KARS (Lysyl-TRNA Synthetase), and among its related pathways/superpathways are Cell junction organization and Adhesion. Related phenotype is hearing impairment.

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that has material basis in mutation in the KARS gene on chromosome 16q23.

Description from OMIM: 613916

Related Diseases for Deafness, Autosomal Recessive 89

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 Deafness, Autosomal Recessive 57
Deafness, Autosomal Recessive 109 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 36 Autosomal Recessive Nonsyndromic Deafness 86
Otof-Related Deafness

Diseases related to Deafness, Autosomal Recessive 89 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 telogen effluvium 9.8 CDH15 CDH3
2 hypotrichosis, congenital, with juvenile macular dystrophy 9.7 CDH15 CDH3
3 hair disease 9.5 CDH15 CDH3

Symptoms & Phenotypes for Deafness, Autosomal Recessive 89

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss (affecting all frequencies), moderate to severe


Clinical features from OMIM:

613916

Human phenotypes related to Deafness, Autosomal Recessive 89:

32
# Description HPO Frequency HPO Source Accession
1 hearing impairment 32 HP:0000365

Drugs & Therapeutics for Deafness, Autosomal Recessive 89

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 89

Genetic Tests for Deafness, Autosomal Recessive 89

Genetic tests related to Deafness, Autosomal Recessive 89:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 89 29 KARS

Anatomical Context for Deafness, Autosomal Recessive 89

Publications for Deafness, Autosomal Recessive 89

Variations for Deafness, Autosomal Recessive 89

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 89:

75
# Symbol AA change Variation ID SNP ID
1 KARS p.Tyr145His VAR_070233 rs397514745
2 KARS p.Asp349Asn VAR_070234 rs397514746

ClinVar genetic disease variations for Deafness, Autosomal Recessive 89:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KARS NM_001130089.1(KARS): c.517T> C (p.Tyr173His) single nucleotide variant Pathogenic rs397514745 GRCh37 Chromosome 16, 75670401: 75670401
2 KARS NM_001130089.1(KARS): c.517T> C (p.Tyr173His) single nucleotide variant Pathogenic rs397514745 GRCh38 Chromosome 16, 75636503: 75636503
3 KARS NM_001130089.1(KARS): c.1129G> A (p.Asp377Asn) single nucleotide variant Pathogenic rs397514746 GRCh37 Chromosome 16, 75665624: 75665624
4 KARS NM_001130089.1(KARS): c.1129G> A (p.Asp377Asn) single nucleotide variant Pathogenic rs397514746 GRCh38 Chromosome 16, 75631726: 75631726

Expression for Deafness, Autosomal Recessive 89

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 89.

Pathways for Deafness, Autosomal Recessive 89

GO Terms for Deafness, Autosomal Recessive 89

Cellular components related to Deafness, Autosomal Recessive 89 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.33 CDH11 CDH15 CDH3
2 cell-cell adherens junction GO:0005913 9.13 CDH11 CDH15 CDH3
3 catenin complex GO:0016342 8.8 CDH11 CDH15 CDH3

Biological processes related to Deafness, Autosomal Recessive 89 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.71 CDH11 CDH15 CDH3 SMPD3
2 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.54 CDH11 CDH15 CDH3
3 cell morphogenesis GO:0000902 9.5 CDH11 CDH15 CDH3
4 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules GO:0016339 9.43 CDH11 CDH15 CDH3
5 adherens junction organization GO:0034332 9.33 CDH11 CDH15 CDH3
6 cell-cell junction assembly GO:0007043 9.13 CDH11 CDH15 CDH3
7 cell-cell adhesion mediated by cadherin GO:0044331 8.8 CDH11 CDH15 CDH3

Molecular functions related to Deafness, Autosomal Recessive 89 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.8 CALB2 CDH11 CDH15 CDH3 NOB1 SMPD3
2 protein homodimerization activity GO:0042803 9.46 CDH11 CDH15 CDH3 KARS
3 cadherin binding GO:0045296 9.43 CDH11 CDH15 CDH3
4 calcium ion binding GO:0005509 9.26 CALB2 CDH11 CDH15 CDH3
5 cytoskeletal protein binding GO:0008092 8.8 CDH11 CDH15 CDH3

Sources for Deafness, Autosomal Recessive 89

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
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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