MCID: DFN253
MIFTS: 28

Deafness, Autosomal Recessive 84a

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

Aliases & Classifications for Deafness, Autosomal Recessive 84a

MalaCards integrated aliases for Deafness, Autosomal Recessive 84a:

Name: Deafness, Autosomal Recessive 84a 53 13 69
Dfnb84a 53 12 71
Autosomal Recessive Nonsyndromic Deafness 84a 12 14
Deafness, Autosomal Recessive 84 53 28
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 84 71
Deafness, Autosomal Recessive 84a, with Vestibular Dysfunction 53
Autosomal Recessive Deafness 84a with Vestibular Dysfunction 12
Deafness Autosomal Recessive 84a with Vestibular Dysfunction 71
Deafness, Autosomal Recessive 84; Dfnb84 53
Deafness, Autosomal Recessive, 84a 71
Autosomal Recessive Deafness 84a 12
Deafness Autosomal Recessive 84 71
Dfnb84 53

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
prelingual onset


HPO:

31
deafness, autosomal recessive 84a:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 53 613391
Disease Ontology 12 DOID:0110529
ICD10 32 H90.3
MedGen 39 C3150654
MeSH 41 D006319
UMLS 69 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 dfnb84a, is related to ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, and has symptoms including hearing impairment, motor delay and vestibular dysfunction. An important gene associated with Deafness, Autosomal Recessive 84a is PTPRQ (Protein Tyrosine Phosphatase, Receptor Type Q), and among its related pathways/superpathways is PAK Pathway.

UniProtKB/Swiss-Prot : 71 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 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 Nonsyndromic Deafness
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 3 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86

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 9.9

Symptoms & Phenotypes for Deafness, Autosomal Recessive 84a

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
hearing loss, bilateral sensorineural, progressive
vestibular dysfunction

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


Clinical features from OMIM:

613391

Human phenotypes related to Deafness, Autosomal Recessive 84a:

31
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365
2 motor delay 31 HP:0001270
3 vestibular dysfunction 31 HP:0001751

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 28 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
Identification of a novel compound heterozygous mutation in PTPRQ in a DFNB84 family with prelingual sensorineural hearing impairment. ( 25557914 )
2015
2
Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction. ( 20346435 )
2010
3
Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84. ( 20472657 )
2010

Variations for Deafness, Autosomal Recessive 84a

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

71
# 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.837T> A (p.Tyr279Ter) single nucleotide variant Pathogenic rs183258549 GRCh38 Chromosome 12, 80460829: 80460829
3 PTPRQ NM_001145026.1(PTPRQ): c.5390-1G> T single nucleotide variant Pathogenic rs886043240 GRCh37 Chromosome 12, 81013932: 81013932

Expression for Deafness, Autosomal Recessive 84a

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

Pathways for Deafness, Autosomal Recessive 84a

Pathways related to Deafness, Autosomal Recessive 84a according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.69 PTPRQ PTPRR

GO Terms for Deafness, Autosomal Recessive 84a

Biological processes related to Deafness, Autosomal Recessive 84a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein dephosphorylation GO:0006470 9.16 PTPRQ PTPRR
2 dephosphorylation GO:0016311 8.96 PTPRQ PTPRR
3 peptidyl-tyrosine dephosphorylation GO:0035335 8.62 PTPRQ PTPRR

Molecular functions related to Deafness, Autosomal Recessive 84a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatase activity GO:0016791 9.16 PTPRQ PTPRR
2 phosphoprotein phosphatase activity GO:0004721 8.96 PTPRQ PTPRR
3 protein tyrosine phosphatase activity GO:0004725 8.62 PTPRQ PTPRR

Sources for Deafness, Autosomal Recessive 84a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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