DFNA73
MCID: DFN333
MIFTS: 19

Deafness, Autosomal Dominant 73 (DFNA73)

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

Aliases & Classifications for Deafness, Autosomal Dominant 73

MalaCards integrated aliases for Deafness, Autosomal Dominant 73:

Name: Deafness, Autosomal Dominant 73 57 29 6
Dfna73 57 72
Deafness, Autosomal Dominant, Type 73 39
Deafness, Autosomal Dominant, 73 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
based on one 4-generation german family (last curated september 2017)
onset between childhood to third decade


HPO:

31
deafness, autosomal dominant 73:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 617663
OMIM Phenotypic Series 57 PS124900
MeSH 44 D034381

Summaries for Deafness, Autosomal Dominant 73

UniProtKB/Swiss-Prot : 72 Deafness, autosomal dominant, 73: A form of non-syndromic hearing loss characterized by mild to severe bilateral symptoms with variable age of onset from early childhood to the third decade.

MalaCards based summary : Deafness, Autosomal Dominant 73, also known as dfna73, is related to branchiootic syndrome 1 and deafness, autosomal recessive 84a. An important gene associated with Deafness, Autosomal Dominant 73 is PTPRQ (Protein Tyrosine Phosphatase Receptor Type Q). Related phenotype is hearing impairment.

More information from OMIM: 617663 PS124900

Related Diseases for Deafness, Autosomal Dominant 73

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 Dominant 73 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 1 9.9
2 deafness, autosomal recessive 84a 9.9
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9

Symptoms & Phenotypes for Deafness, Autosomal Dominant 73

Human phenotypes related to Deafness, Autosomal Dominant 73:

31
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
hearing loss, bilateral, mild to moderate

Clinical features from OMIM®:

617663 (Updated 05-Apr-2021)

Drugs & Therapeutics for Deafness, Autosomal Dominant 73

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 73

Genetic Tests for Deafness, Autosomal Dominant 73

Genetic tests related to Deafness, Autosomal Dominant 73:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 73 29 PTPRQ

Anatomical Context for Deafness, Autosomal Dominant 73

Publications for Deafness, Autosomal Dominant 73

Articles related to Deafness, Autosomal Dominant 73:

# Title Authors PMID Year
1
A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73. 6 57 61
29309402 2018

Variations for Deafness, Autosomal Dominant 73

ClinVar genetic disease variations for Deafness, Autosomal Dominant 73:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PTPRQ NM_001145026.2(PTPRQ):c.5686+2T>G SNV Pathogenic 1031162 GRCh37: 12:81015915-81015915
GRCh38: 12:80622136-80622136
2 PTPRQ NM_001145026.2(PTPRQ):c.2621C>A (p.Ser874Ter) SNV Pathogenic 1033332 GRCh37: 12:80904165-80904165
GRCh38: 12:80510386-80510386
3 PTPRQ NM_001145026.2(PTPRQ):c.3G>A (p.Met1Ile) SNV Likely pathogenic 982616 GRCh37: 12:80838128-80838128
GRCh38: 12:80444348-80444348
4 PTPRQ NM_001145026.2(PTPRQ):c.6586A>G (p.Met2196Val) SNV Uncertain significance 423816 rs200166814 GRCh37: 12:81064255-81064255
GRCh38: 12:80670476-80670476
5 PTPRQ NM_001145026.2(PTPRQ):c.6881G>A (p.Trp2294Ter) SNV Uncertain significance 438482 rs1555214288 GRCh37: 12:81072783-81072783
GRCh38: 12:80679004-80679004
6 PTPRQ NM_001145026.2(PTPRQ):c.386T>G (p.Ile129Ser) SNV Uncertain significance 548548 rs1555180294 GRCh37: 12:80839493-80839493
GRCh38: 12:80445713-80445713

Expression for Deafness, Autosomal Dominant 73

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 73.

Pathways for Deafness, Autosomal Dominant 73

GO Terms for Deafness, Autosomal Dominant 73

Sources for Deafness, Autosomal Dominant 73

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