DFNB89
MCID: DFN260
MIFTS: 31

Deafness, Autosomal Recessive 89 (DFNB89)

Categories: Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare 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 70
Dfnb89 57 12 72
Autosomal Recessive Nonsyndromic Deafness 89 12 15
Deafness, Autosomal Recessive, Type 89 39
Deafness, Autosomal Recessive, 89 72
Autosomal Recessive Deafness 89 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
prelingual onset


HPO:

31
deafness, autosomal recessive 89:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110534
OMIM® 57 613916
OMIM Phenotypic Series 57 PS220290
MeSH 44 D006319
ICD10 32 H90.3
MedGen 41 C3151351
UMLS 70 C3151351

Summaries for Deafness, Autosomal Recessive 89

UniProtKB/Swiss-Prot : 72 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 autosomal recessive non-syndromic sensorineural deafness type dfnb and charcot-marie-tooth disease, axonal, type 2u. An important gene associated with Deafness, Autosomal Recessive 89 is KARS1 (Lysyl-TRNA Synthetase 1), and among its related pathways/superpathways are Gene Expression and tRNA Aminoacylation. 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.

More information from OMIM: 613916 PS220290

Related Diseases for Deafness, Autosomal Recessive 89

Diseases in the Rare Deafness family:

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 Deafness, Autosomal Dominant 75
Deafness, Autosomal Dominant 76 Deafness, Autosomal Dominant 77
Deafness, Autosomal Dominant 78 Deafness, Autosomal Dominant 79
Deafness, Autosomal Recessive 116 Deafness, Autosomal Recessive 117
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
Autosomal Dominant Nonsyndromic Deafness 78 Autosomal Dominant Nonsyndromic Deafness 79
Autosomal Recessive Nonsyndromic Deafness 116 Autosomal Dominant Nonsyndromic Deafness 74
Autosomal Dominant Nonsyndromic Deafness 75 Autosomal Dominant Nonsyndromic Deafness 76
Autosomal Dominant Nonsyndromic Deafness 77 Nonsyndromic Deafness
Otof-Related Deafness Familial Deafness

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

(show all 26)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive non-syndromic sensorineural deafness type dfnb 29.9 OTOA NARS2 KARS1
2 charcot-marie-tooth disease, axonal, type 2u 10.2 KARS1 EPRS1
3 charcot-marie-tooth disease, axonal, type 2n 10.2 KARS1 EPRS1
4 charcot-marie-tooth disease, dominant intermediate c 10.2 KARS1 EPRS1
5 antisynthetase syndrome 10.1 KARS1 EPRS1
6 autosomal dominant distal hereditary motor neuronopathy 10.1 KARS1 EPRS1
7 charcot-marie-tooth disease, axonal, type 2d 10.1 KARS1 EPRS1
8 deafness, autosomal dominant 40 10.1 OTOA CRYM
9 deafness, autosomal recessive 91 10.1 OTOA CRYM
10 deafness, autosomal recessive 94 10.0 NARS2 LARS2
11 developmental and epileptic encephalopathy 29 10.0 RARS2 KARS1
12 infantile liver failure syndrome 10.0 RARS2 EPRS1
13 deafness, autosomal recessive 1a 10.0 OTOA CRYM
14 combined oxidative phosphorylation deficiency 20 10.0 RARS2 KARS1
15 46 xx gonadal dysgenesis 10.0 LARS2 EPRS1
16 combined oxidative phosphorylation deficiency 12 10.0 RARS2 EPRS1
17 auditory system disease 9.9 OTOA EPRS1
18 neuronopathy, distal hereditary motor, type va 9.9 LARS2 KARS1 EPRS1
19 mitochondrial dna depletion syndrome 4a 9.9 RARS2 NARS2
20 robinow syndrome 9.9 RARS2 KARS1 EPRS1
21 pontocerebellar hypoplasia, type 6 9.8 RARS2 LARS2 KARS1
22 leukodystrophy 9.7 LARS2 KARS1 EPRS1
23 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.7 RARS2 LARS2 EPRS1
24 congenital nervous system abnormality 9.7 RARS2 EPRS1
25 robinow syndrome, autosomal recessive 1 9.6 RARS2 LARS2 KARS1 EPRS1
26 perrault syndrome 9.4 RARS2 NARS2 LARS2 KARS1 EPRS1

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 89:



Diseases related to Deafness, Autosomal Recessive 89

Symptoms & Phenotypes for Deafness, Autosomal Recessive 89

Human phenotypes related to Deafness, Autosomal Recessive 89:

31
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
hearing loss (affecting all frequencies), moderate to severe

Clinical features from OMIM®:

613916 (Updated 05-Apr-2021)

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 KARS1

Anatomical Context for Deafness, Autosomal Recessive 89

Publications for Deafness, Autosomal Recessive 89

Articles related to Deafness, Autosomal Recessive 89:

# Title Authors PMID Year
1
Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89. 6 57 61
23768514 2013
2
DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2. 6 57 61
21181198 2011
3
Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report. 61
33478492 2021

Variations for Deafness, Autosomal Recessive 89

ClinVar genetic disease variations for Deafness, Autosomal Recessive 89:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KARS1 NM_001130089.1(KARS1):c.517T>C (p.Tyr173His) SNV Pathogenic 60752 rs397514745 GRCh37: 16:75670401-75670401
GRCh38: 16:75636503-75636503
2 KARS1 NM_001130089.1(KARS1):c.1129G>A (p.Asp377Asn) SNV Pathogenic 60753 rs397514746 GRCh37: 16:75665624-75665624
GRCh38: 16:75631726-75631726
3 KARS1 NM_005548.2(KARS1):c.1430G>A (p.Arg477His) SNV Pathogenic 437931 rs778748895 GRCh37: 16:75663434-75663434
GRCh38: 16:75629536-75629536
4 KARS1 NM_005548.2(KARS1):c.599C>T (p.Pro200Leu) SNV Likely pathogenic 224983 rs201650281 GRCh37: 16:75669880-75669880
GRCh38: 16:75635982-75635982
5 KARS1 NM_005548.2(KARS1):c.1493C>T (p.Ala498Val) SNV Likely pathogenic 694746 rs1415687857 GRCh37: 16:75663371-75663371
GRCh38: 16:75629473-75629473
6 KARS1 NM_005548.2(KARS1):c.1493C>T (p.Ala498Val) SNV Uncertain significance 694746 rs1415687857 GRCh37: 16:75663371-75663371
GRCh38: 16:75629473-75629473
7 KARS1 NM_001130089.2(KARS1):c.1779+5G>A SNV Likely benign 320626 rs778438390 GRCh37: 16:75662462-75662462
GRCh38: 16:75628564-75628564
8 KARS1 NM_005548.3(KARS1):c.1784C>G (p.Thr595Ser) SNV Benign 226682 rs6834 GRCh37: 16:75661803-75661803
GRCh38: 16:75627905-75627905

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

72
# Symbol AA change Variation ID SNP ID
1 KARS1 p.Tyr145His VAR_070233 rs397514745
2 KARS1 p.Asp349Asn VAR_070234 rs397514746

Expression for Deafness, Autosomal Recessive 89

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

Pathways for Deafness, Autosomal Recessive 89

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.87 RARS2 NOB1 NARS2 LARS2 KARS1 EPRS1
2
Show member pathways
11.26 RARS2 NARS2 LARS2 KARS1 EPRS1
3 11.11 LARS2 EPRS1

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 aminoacyl-tRNA synthetase multienzyme complex GO:0017101 8.96 KARS1 EPRS1
2 mitochondrial matrix GO:0005759 8.92 RARS2 NARS2 LARS2 KARS1

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

# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 9.35 RARS2 NARS2 LARS2 KARS1 EPRS1
2 mitochondrial translation GO:0032543 9.16 RARS2 LARS2
3 tRNA aminoacylation for protein translation GO:0006418 9.02 RARS2 NARS2 LARS2 KARS1 EPRS1

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

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.65 RARS2 NARS2 LARS2 KARS1 EPRS1
2 ATP binding GO:0005524 9.55 RARS2 NARS2 LARS2 KARS1 EPRS1
3 ligase activity GO:0016874 9.35 RARS2 NARS2 LARS2 KARS1 EPRS1
4 aminoacyl-tRNA ligase activity GO:0004812 9.02 RARS2 NARS2 LARS2 KARS1 EPRS1

Sources for Deafness, Autosomal Recessive 89

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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