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DFNB84A
MCID: DFN253
MIFTS: 30

Deafness, Autosomal Recessive 84a (DFNB84A)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Deafness, Autosomal Recessive 84a

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MalaCards integrated aliases for Deafness, Autosomal Recessive 84a:

Name: Deafness, Autosomal Recessive 84a 56 13 71
Deafness, Autosomal Recessive 84 56 29 6
Dfnb84a 56 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 56
Autosomal Recessive Deafness 84a with Vestibular Dysfunction 12
Deafness Autosomal Recessive 84a with Vestibular Dysfunction 73
Deafness, Autosomal Recessive 84; Dfnb84 56
Deafness, Autosomal Recessive, Type 84a 39
Deafness, Autosomal Recessive, 84a 73
Autosomal Recessive Deafness 84a 12
Deafness Autosomal Recessive 84 73
Dfnb84 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
prelingual onset


HPO:

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


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Ear diseases Neuronal diseases Blood diseases Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:0110529
OMIM 56 613391
OMIM Phenotypic Series 56 PS220290
MeSH 43 D006319
ICD10 32 H90.3
MedGen 41 C3150654
UMLS 71 C3150654
Sources

Summaries for Deafness, Autosomal Recessive 84a

About this section
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 autosomal recessive non-syndromic sensorineural deafness type dfnb. An important gene associated with Deafness, Autosomal Recessive 84a is PTPRQ (Protein Tyrosine Phosphatase Receptor Type Q), and among its related pathways/superpathways is S-1P Stimulated Signaling. 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
Sources

Related Diseases for Deafness, Autosomal Recessive 84a

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Diseases in the Rare 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 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 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 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 16)
# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 1 30.3 PTPRQ CDH23
2 autosomal recessive non-syndromic sensorineural deafness type dfnb 29.7 PTPRQ CDH23
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
4 familial deafness 10.2
5 deafness, autosomal recessive 83 10.0 PTPRQ CDH23
6 deafness, autosomal recessive 22 10.0 PTPRQ CDH23
7 deafness, autosomal recessive 16 10.0 PTPRQ CDH23
8 usher syndrome, type i 10.0 PTPRQ CDH23
9 usher syndrome, type iic 10.0 PTPRQ CDH23
10 deafness, autosomal dominant 50 10.0 PTPRR PTPRQ
11 dyschromatosis universalis hereditaria 9.9 PTPRR PTPRQ
12 usher syndrome, type id 9.9 PTPRQ CDH23
13 deafness, autosomal recessive 12 9.9 PTPRQ CDH23
14 acute disseminated encephalomyelitis 9.9 HLA-DQA1 CDH23
15 usher syndrome type 2 9.7 PTPRQ CDH23
16 autosomal dominant nonsyndromic deafness 9.7 PTPRR PTPRQ CDH23

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



Diseases related to Deafness, Autosomal Recessive 84a
Sources

Symptoms & Phenotypes for Deafness, Autosomal Recessive 84a

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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:

56
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
Sources

Drugs & Therapeutics for Deafness, Autosomal Recessive 84a

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

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Genetic Tests for Deafness, Autosomal Recessive 84a

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Genetic tests related to Deafness, Autosomal Recessive 84a:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 84 29 PTPRQ
Sources

Anatomical Context for Deafness, Autosomal Recessive 84a

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Sources

Publications for Deafness, Autosomal Recessive 84a

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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 56
20346435 2010
2
Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. 56
19888295 2010
3
A receptor-like inositol lipid phosphatase is required for the maturation of developing cochlear hair bundles. 56
14534255 2003
4
A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73. 61
29309402 2018
Sources

Variations for Deafness, Autosomal Recessive 84a

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

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

Sources

Expression for Deafness, Autosomal Recessive 84a

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

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

# Super pathways Score Top Affiliating Genes
1
S-1P Stimulated Signaling 63
10.61 HLA-DQA1 CDH23
Sources

GO Terms for Deafness, Autosomal Recessive 84a

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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

Sources for Deafness, Autosomal Recessive 84a

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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