DFNB84A
MCID: DFN253
MIFTS: 28

Deafness, Autosomal Recessive 84a (DFNB84A)

Categories: 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 57 13 71
Deafness, Autosomal Recessive 84 57 29 6
Dfnb84a 57 12 73
Autosomal Recessive Nonsyndromic Deafness 84a 12 15
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 84 73
Deafness, Autosomal Recessive 84a, with Vestibular Dysfunction 57
Autosomal Recessive Deafness 84a with Vestibular Dysfunction 12
Deafness Autosomal Recessive 84a with Vestibular Dysfunction 73
Deafness, Autosomal Recessive 84; Dfnb84 57
Deafness, Autosomal Recessive, Type 84a 39
Deafness, Autosomal Recessive, 84a 73
Autosomal Recessive Deafness 84a 12
Deafness Autosomal Recessive 84 73
Dfnb84 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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:

Disease Ontology 12 DOID:0110529
OMIM® 57 613391
OMIM Phenotypic Series 57 PS220290
MeSH 44 D006319
ICD10 32 H90.3
MedGen 41 C3150654
UMLS 71 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 branchiootic syndrome 1 and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus. 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 : 73 Deafness, autosomal recessive, 84A: A form of non-syndromic deafness characterized by progressive, sensorineural hearing loss and vestibular dysfunction.

More information from OMIM: 613391 PS220290

Related Diseases for Deafness, Autosomal Recessive 84a

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 84a via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 1 29.6 PTPRQ CDH23
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
3 familial deafness 9.9
4 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.9
5 usher syndrome, type i 9.8 PTPRQ CDH23
6 usher syndrome, type id 9.7 PTPRQ CDH23
7 deafness, autosomal dominant 1, with or without thrombocytopenia 9.7 PTPRR PTPRQ
8 dyschromatosis universalis hereditaria 9.7 PTPRR PTPRQ
9 deafness, autosomal recessive 12 9.6 PTPRQ CDH23
10 deafness, autosomal recessive 16 9.4 PTPRR PTPRQ CDH23
11 autosomal dominant nonsyndromic deafness 9.4 PTPRR PTPRQ CDH23
12 usher syndrome 9.4 PTPRR PTPRQ CDH23
13 usher syndrome type 2 9.4 PTPRR PTPRQ CDH23

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:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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 29 PTPRQ

Anatomical Context for Deafness, Autosomal Recessive 84a

Publications for Deafness, Autosomal Recessive 84a

Articles related to Deafness, Autosomal Recessive 84a:

# Title Authors PMID Year
1
Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction. 6 57
20346435 2010
2
Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. 57
19888295 2010
3
A receptor-like inositol lipid phosphatase is required for the maturation of developing cochlear hair bundles. 57
14534255 2003
4
A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73. 61
29309402 2018

Variations for Deafness, Autosomal Recessive 84a

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

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PTPRQ NM_001145026.2(PTPRQ):c.715A>G (p.Arg239Gly) SNV Pathogenic 156332 rs281865414 12:80849470-80849470 12:80460707-80460707
2 PTPRQ NM_001145026.2(PTPRQ):c.837T>A (p.Tyr279Ter) SNV Pathogenic 156333 rs183258549 12:80849348-80849348 12:80460829-80460829
3 PTPRQ NM_001145026.2(PTPRQ):c.4006C>T (p.Gln1336Ter) SNV Pathogenic 973493 12:80940467-80940467 12:80546688-80546688
4 CDH23 NM_022124.6(CDH23):c.4210-2A>G SNV Pathogenic 585306 rs557620034 10:73498253-73498253 10:71738496-71738496
5 PTPRQ NM_001145026.2(PTPRQ):c.6586A>G (p.Met2196Val) SNV Uncertain significance 423816 rs200166814 12:81064255-81064255 12:80670476-80670476
6 PTPRQ NM_001145026.2(PTPRQ):c.6452_6453+2del Deletion Uncertain significance 802874 rs1419198127 12:81063242-81063245 12:80669463-80669466
7 PTPRQ NM_001145026.2(PTPRQ):c.1934T>A (p.Val645Asp) SNV Benign 682569 rs10778752 12:80889829-80889829 12:80496050-80496050

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

73
# Symbol AA change Variation ID SNP ID
1 PTPRQ p.Arg281Gly VAR_063526

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

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 PTPRR PTPRQ
2 dephosphorylation GO:0016311 8.96 PTPRR PTPRQ
3 peptidyl-tyrosine dephosphorylation GO:0035335 8.62 PTPRR PTPRQ

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

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

Sources for Deafness, Autosomal Recessive 84a

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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