DFNB84A
MCID: DFN253
MIFTS: 24

Deafness, Autosomal Recessive 84a (DFNB84A)

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

Aliases & Classifications for Deafness, Autosomal Recessive 84a

MalaCards integrated aliases for Deafness, Autosomal Recessive 84a:

Name: Deafness, Autosomal Recessive 84a 58 13 74
Deafness, Autosomal Recessive 84 58 30 6
Dfnb84a 58 12 76
Autosomal Recessive Nonsyndromic Deafness 84a 12 15
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 84 76
Deafness, Autosomal Recessive 84a, with Vestibular Dysfunction 58
Autosomal Recessive Deafness 84a with Vestibular Dysfunction 12
Deafness Autosomal Recessive 84a with Vestibular Dysfunction 76
Deafness, Autosomal Recessive 84; Dfnb84 58
Deafness, Autosomal Recessive, Type 84a 41
Deafness, Autosomal Recessive, 84a 76
Autosomal Recessive Deafness 84a 12
Deafness Autosomal Recessive 84 76
Dfnb84 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
prelingual onset


HPO:

33
deafness, autosomal recessive 84a:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110529
OMIM 58 613391
MeSH 45 D006319
ICD10 34 H90.3
MedGen 43 C3150654
UMLS 74 C3150654

Summaries for Deafness, Autosomal Recessive 84a

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has material basis in mutation in the PTPRQ gene on chromosome 12q21.

MalaCards based summary : Deafness, Autosomal Recessive 84a, also known as deafness, autosomal recessive 84, is related to ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus and deafness, autosomal recessive 85. An important gene associated with Deafness, Autosomal Recessive 84a is PTPRQ (Protein Tyrosine Phosphatase Receptor Type Q). Related phenotypes are hearing impairment and motor delay

UniProtKB/Swiss-Prot : 76 Deafness, autosomal recessive, 84A: A form of non-syndromic deafness characterized by progressive, sensorineural hearing loss and vestibular dysfunction.

Description from OMIM: 613391

Related Diseases for Deafness, Autosomal Recessive 84a

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 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 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
Autosomal Recessive Nonsyndromic Deafness 86 Otof-Related Deafness

Diseases related to Deafness, Autosomal Recessive 84a via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
2 deafness, autosomal recessive 85 9.8 CDH23 PTPRQ
3 deafness, autosomal recessive 83 9.7 CDH23 PTPRQ
4 branchiootic syndrome 1 9.7 CDH23 PTPRQ
5 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.7 CDH23 PTPRQ
6 nonsyndromic deafness 9.6 CDH23 PTPRQ
7 sensorineural hearing loss 9.5 CDH23 PTPRQ

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 84a:



Diseases related to Deafness, Autosomal Recessive 84a

Symptoms & Phenotypes for Deafness, Autosomal Recessive 84a

Human phenotypes related to Deafness, Autosomal Recessive 84a:

33
# Description HPO Frequency HPO Source Accession
1 hearing impairment 33 HP:0000365
2 motor delay 33 HP:0001270
3 vestibular dysfunction 33 HP:0001751

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
vestibular dysfunction
hearing loss, bilateral sensorineural, progressive

Neurologic Central Nervous System:
mildly delayed motor development due to vestibular dysfunction

Clinical features from OMIM:

613391

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 84a:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.62 CDH23 PTPRQ

Drugs & Therapeutics for Deafness, Autosomal Recessive 84a

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 84a

Genetic Tests for Deafness, Autosomal Recessive 84a

Genetic tests related to Deafness, Autosomal Recessive 84a:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 84 30 PTPRQ

Anatomical Context for Deafness, Autosomal Recessive 84a

Publications for Deafness, Autosomal Recessive 84a

Articles related to Deafness, Autosomal Recessive 84a:

# Title Authors Year
1
Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction. ( 20346435 )
2010

Variations for Deafness, Autosomal Recessive 84a

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 84a:

76
# Symbol AA change Variation ID SNP ID
1 PTPRQ p.Arg281Gly VAR_063526

ClinVar genetic disease variations for Deafness, Autosomal Recessive 84a:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PTPRQ NM_001145026.1(PTPRQ): c.715A> G (p.Arg239Gly) single nucleotide variant Pathogenic rs281865414 GRCh38 Chromosome 12, 80460707: 80460707
2 PTPRQ NM_001145026.1(PTPRQ): c.715A> G (p.Arg239Gly) single nucleotide variant Pathogenic rs281865414 GRCh37 Chromosome 12, 80849470: 80849470
3 PTPRQ NM_001145026.1(PTPRQ): c.837T> A (p.Tyr279Ter) single nucleotide variant Pathogenic rs183258549 GRCh38 Chromosome 12, 80460829: 80460829
4 PTPRQ NM_001145026.1(PTPRQ): c.837T> A (p.Tyr279Ter) single nucleotide variant Pathogenic rs183258549 GRCh37 Chromosome 12, 80849348: 80849348
5 PTPRQ NM_001145026.1(PTPRQ): c.5390-1G> T single nucleotide variant Pathogenic rs886043240 GRCh37 Chromosome 12, 81013932: 81013932
6 PTPRQ NM_001145026.1(PTPRQ): c.5390-1G> T single nucleotide variant Pathogenic rs886043240 GRCh38 Chromosome 12, 80620153: 80620153
7 PTPRQ NM_001145026.1(PTPRQ): c.6586A> G (p.Met2196Val) single nucleotide variant Uncertain significance rs200166814 GRCh38 Chromosome 12, 80670476: 80670476
8 PTPRQ NM_001145026.1(PTPRQ): c.6586A> G (p.Met2196Val) single nucleotide variant Uncertain significance rs200166814 GRCh37 Chromosome 12, 81064255: 81064255
9 CDH23 NM_022124.5(CDH23): c.4210-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome 10, 71738496: 71738496
10 CDH23 NM_022124.5(CDH23): c.4210-2A> G single nucleotide variant Pathogenic GRCh37 Chromosome 10, 73498253: 73498253

Expression for Deafness, Autosomal Recessive 84a

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 84a.

Pathways for Deafness, Autosomal Recessive 84a

GO Terms for Deafness, Autosomal Recessive 84a

Sources for Deafness, Autosomal Recessive 84a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....