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DFNB84A
MCID: DFN253
MIFTS: 26

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 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 57 13 72
Deafness, Autosomal Recessive 84 57 29 6
Dfnb84a 57 12 74
Autosomal Recessive Nonsyndromic Deafness 84a 12 15
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 84 74
Deafness, Autosomal Recessive 84a, with Vestibular Dysfunction 57
Autosomal Recessive Deafness 84a with Vestibular Dysfunction 12
Deafness Autosomal Recessive 84a with Vestibular Dysfunction 74
Deafness, Autosomal Recessive 84; Dfnb84 57
Deafness, Autosomal Recessive, Type 84a 40
Deafness, Autosomal Recessive, 84a 74
Autosomal Recessive Deafness 84a 12
Deafness Autosomal Recessive 84 74
Dfnb84 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
prelingual onset


HPO:

32
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: 33


External Ids:

Disease Ontology 12 DOID:0110529
MeSH 44 D006319
ICD10 33 H90.3
MedGen 42 C3150654
UMLS 72 C3150654
Sources

Summaries for Deafness, Autosomal Recessive 84a

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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). Related phenotypes are hearing impairment and motor delay

UniProtKB/Swiss-Prot : 74 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
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 Familial 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 branchiootic syndrome 1 29.8 PTPRQ CDH23
2 autosomal recessive non-syndromic sensorineural deafness type dfnb 29.5 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 9.6 PTPRQ CDH23
6 deafness, autosomal recessive 85 9.6 PTPRQ CDH23
7 nonsyndromic deafness 9.4 PTPRQ CDH23
8 sensorineural hearing loss 9.2 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:

32
# Description HPO Frequency HPO Source Accession
1 hearing impairment 32 HP:0000365
2 motor delay 32 HP:0001270
3 vestibular dysfunction 32 HP:0001751

Symptoms via clinical synopsis from OMIM:

57
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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.62 CDH23 PTPRQ
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. 8 71
20346435 2010
2
Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. 8
19888295 2010
3
A receptor-like inositol lipid phosphatase is required for the maturation of developing cochlear hair bundles. 8
14534255 2003
4
A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73. 38
29309402 2018
Sources

Variations for Deafness, Autosomal Recessive 84a

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

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

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

74
# 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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GO Terms for Deafness, Autosomal Recessive 84a

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Sources for Deafness, Autosomal Recessive 84a

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 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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