MCID: DFN155
MIFTS: 25

Deafness, Autosomal Dominant 41

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

Aliases & Classifications for Deafness, Autosomal Dominant 41

MalaCards integrated aliases for Deafness, Autosomal Dominant 41:

Name: Deafness, Autosomal Dominant 41 54 29 13 69
Autosomal Dominant Nonsyndromic Deafness 41 12 14
Dfna41 12 71
Deafness, Autosomal Dominant, 41 71
Autosomal Dominant Deafness 41 12

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
onset in second decade, but sometimes earlier
hearing loss is usually severe by age 20 years
noise exposure causes more severe hearing loss at high frequencies (2,000 to 8,000 hz)


HPO:

32
deafness, autosomal dominant 41:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Deafness, Autosomal Dominant 41

OMIM : 54
Autosomal dominant deafness-41 (DFNA41) is characterized by onset of progressive sensorineural hearing loss usually in the second decade. The hearing loss is severe and ultimately affects all frequencies. Exposure to noise exacerbates the hearing loss, particularly at high frequencies (summary by Yan et al., 2013). (608224)

MalaCards based summary : Deafness, Autosomal Dominant 41, also known as autosomal dominant nonsyndromic deafness 41, is related to dfna41 nonsyndromic hearing loss and deafness and mitochondrial phosphate carrier deficiency, and has symptoms including tinnitus, hearing impairment and progressive sensorineural hearing impairment. An important gene associated with Deafness, Autosomal Dominant 41 is P2RX2 (Purinergic Receptor P2X 2).

UniProtKB/Swiss-Prot : 71 Deafness, autosomal dominant, 41: A form of non-syndromic deafness characterized by onset of progressive sensorineural hearing loss usually in the second decade. The hearing loss is severe and ultimately affects all frequencies. Exposure to noise exacerbates the hearing loss, particularly at high frequencies.

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat progressive hearing loss and has material basis in mutation in the P2RX2 gene on chromosome 12q24.

Related Diseases for Deafness, Autosomal Dominant 41

Diseases in the Familial Deafness family:

Deafness, Autosomal Recessive 96 Deafness, Autosomal Recessive 36
Deafness, Autosomal Dominant 2b Deafness, Autosomal Recessive
Deafness, Autosomal Dominant 2a Deafness, Autosomal Recessive 108
Deafness, Autosomal Recessive 32 Deafness, Autosomal Recessive 105
Deafness, Autosomal Dominant 7 Deafness, Autosomal Dominant 49
Deafness, Autosomal Recessive 45 Deafness, Autosomal Recessive 9
Deafness, Autosomal Dominant 58 Deafness, Autosomal Recessive 70
Deafness, Autosomal Dominant 43 Deafness, Autosomal Recessive 88
Deafness, Autosomal Dominant 16 Deafness, Autosomal Recessive 27
Deafness, Autosomal Recessive 59 Deafness, Autosomal Recessive 6
Deafness, Autosomal Dominant 70 Deafness, Autosomal Recessive 42
Deafness, Autosomal Dominant 18 Deafness, Autosomal Dominant 44
Deafness, Autosomal Dominant 6/14/38 Deafness, Autosomal Recessive 25
Deafness, Autosomal Dominant 27 Deafness, Autosomal Recessive 55
Deafness, Autosomal Recessive 26 Deafness, Autosomal Dominant 24
Deafness, Autosomal Recessive 49 Deafness, Autosomal Dominant 1
Deafness, Autosomal Dominant 54 Deafness, Autosomal Dominant 15
Deafness, Autosomal Dominant 52 Deafness, Autosomal Recessive 101
Deafness, Autosomal Recessive 91 Deafness, Autosomal Dominant 21
Deafness, Autosomal Recessive 104 Deafness, Autosomal Recessive 66
Deafness, Autosomal Dominant 13 Deafness, Autosomal Recessive 53
Deafness, Autosomal Dominant 31 Deafness, Autosomal Recessive 67
Deafness, Autosomal Dominant 72 Deafness, Autosomal Recessive 103
Deafness, Autosomal Dominant 22 Deafness, Autosomal Recessive 37
Deafness, Autosomal Dominant 66 Deafness, Autosomal Dominant 10
Deafness, Autosomal Recessive 38 Deafness, Autosomal Dominant 5
Deafness, Autosomal Recessive 44 Deafness, Autosomal Recessive 39
Deafness, Autosomal Recessive 61 Deafness, Autosomal Recessive 14
Deafness, Autosomal Recessive 17 Deafness, Autosomal Recessive 97
Deafness, Autosomal Dominant 50 Deafness, Autosomal Recessive 13
Deafness, Autosomal Recessive 71 Deafness, Autosomal Dominant 28
Deafness, Autosomal Recessive 83 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 7 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 51 Deafness, Autosomal Recessive 31
Deafness, Autosomal Dominant 56 Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 33 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive 12 Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 18a Deafness Autosomal Recessive 106
Deafness, Autosomal Recessive 18b Deafness, Autosomal Dominant 59
Deafness, Autosomal Recessive 51 Deafness, Autosomal Recessive 93
Deafness, Autosomal Recessive 63 Deafness, Autosomal Recessive 2
Deafness, Autosomal Dominant 11 Deafness, Autosomal Dominant 8/12
Deafness, Autosomal Recessive 21 Deafness, Autosomal Recessive 24
Deafness, Autosomal Recessive 20 Deafness, Autosomal Recessive 62
Deafness, Autosomal Recessive 102 Deafness, Autosomal Dominant 48
Deafness, Autosomal Recessive 74 Deafness, Autosomal Recessive 84a
Deafness, Autosomal Dominant 73 Deafness, Autosomal Recessive 84b
Deafness, Autosomal Dominant 25 Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 41 Deafness, Autosomal Recessive 1a
Deafness, Autosomal Dominant 3a Deafness, Autosomal Dominant 3b
Deafness, Autosomal Recessive 1b Deafness, Autosomal Dominant 33
Deafness, Autosomal Dominant 53 Deafness, Autosomal Recessive 5
Deafness, Autosomal Dominant 9 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 35 Deafness, Autosomal Recessive 16
Deafness, Autosomal Dominant 71 Deafness, Autosomal Recessive 48
Deafness, Autosomal Dominant 68 Deafness, Autosomal Dominant 30
Deafness , Autosomal Recessive 86 Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 40 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 89 Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 3 Deafness, Autosomal Recessive 107
Deafness, Autosomal Dominant 20/26 Deafness, Autosomal Recessive 46
Deafness, Autosomal Recessive 77 Deafness, Autosomal Recessive 15
Deafness, Autosomal Recessive 68 Deafness, Autosomal Recessive 76
Deafness, Autosomal Dominant 4b Deafness, Autosomal Dominant 4a
Deafness, Autosomal Dominant 67 Deafness, Autosomal Recessive 65
Deafness, Autosomal Recessive 29 Deafness, Autosomal Recessive 8/10
Deafness, Autosomal Recessive 98 Deafness, Autosomal Dominant 17
Deafness, Autosomal Recessive 40 Deafness, Autosomal Recessive 28
Nonsyndromic Deafness Autosomal Dominant Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 47 Autosomal Recessive Nonsyndromic Deafness 8
Autosomal Dominant Nonsyndromic Deafness 12 Autosomal Dominant Nonsyndromic Deafness 20
Autosomal Dominant Nonsyndromic Deafness 6 Autosomal Dominant Nonsyndromic Deafness 69
Otof-Related Deafness

Diseases related to Deafness, Autosomal Dominant 41 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 dfna41 nonsyndromic hearing loss and deafness 11.0
2 mitochondrial phosphate carrier deficiency 8.9 FZD10 STX2 ZNF664
3 myopathy, lactic acidosis, and sideroblastic anemia 1 8.0 FZD10 P2RX2 STX2 ZNF664

Symptoms & Phenotypes for Deafness, Autosomal Dominant 41

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Ears:
tinnitus
hearing loss, progressive sensorineural (most severe at high frequencies, but ultimately affecting all frequencies)


Clinical features from OMIM:

608224

Human phenotypes related to Deafness, Autosomal Dominant 41:

32
id Description HPO Frequency HPO Source Accession
1 tinnitus 32 HP:0000360
2 hearing impairment 32 HP:0000365
3 progressive sensorineural hearing impairment 32 HP:0000408

Drugs & Therapeutics for Deafness, Autosomal Dominant 41

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Epidemiology of Non-syndromic Dominant Deafness Completed NCT01150305

Search NIH Clinical Center for Deafness, Autosomal Dominant 41

Genetic Tests for Deafness, Autosomal Dominant 41

Genetic tests related to Deafness, Autosomal Dominant 41:

id Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 41 29

Anatomical Context for Deafness, Autosomal Dominant 41

Publications for Deafness, Autosomal Dominant 41

Variations for Deafness, Autosomal Dominant 41

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 41:

71
id Symbol AA change Variation ID SNP ID
1 P2RX2 p.Val60Leu VAR_070687 rs587777692
2 P2RX2 p.Gly353Arg VAR_070688 rs202138002

ClinVar genetic disease variations for Deafness, Autosomal Dominant 41:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 P2RX2 NM_174873.2(P2RX2): c.178G> T (p.Val60Leu) single nucleotide variant Pathogenic rs587777692 GRCh37 Chromosome 12, 133196029: 133196029
2 P2RX2 NM_170682.3(P2RX2): c.1057G> C (p.Gly353Arg) single nucleotide variant Pathogenic rs202138002 GRCh37 Chromosome 12, 133198121: 133198121

Expression for Deafness, Autosomal Dominant 41

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 41.

Pathways for Deafness, Autosomal Dominant 41

GO Terms for Deafness, Autosomal Dominant 41

Sources for Deafness, Autosomal Dominant 41

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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