DFNA41
MCID: DFN155
MIFTS: 32

Deafness, Autosomal Dominant 41 (DFNA41)

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

Aliases & Classifications for Deafness, Autosomal Dominant 41

MalaCards integrated aliases for Deafness, Autosomal Dominant 41:

Name: Deafness, Autosomal Dominant 41 56 29 13 6 71
Dfna41 56 12 73
Autosomal Dominant Nonsyndromic Deafness 41 12 15
Deafness, Autosomal Dominant, Type 41 39
Deafness, Autosomal Dominant, 41 73
Autosomal Dominant Deafness 41 12

Characteristics:

OMIM:

56
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:

31
deafness, autosomal dominant 41:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110567
OMIM 56 608224
OMIM Phenotypic Series 56 PS124900
MeSH 43 D003638
ICD10 32 H90.3
MedGen 41 C1842371
UMLS 71 C1842371

Summaries for Deafness, Autosomal Dominant 41

OMIM : 56 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 dfna41, is related to deafness, autosomal dominant 25 and branchiootic syndrome 1, and has symptoms including tinnitus An important gene associated with Deafness, Autosomal Dominant 41 is P2RX2 (Purinergic Receptor P2X 2). Related phenotypes are hearing impairment and tinnitus

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat progressive hearing loss and has material basis in autosomal dominant inheritance of heterozygous mutation in the purinergic receptor P2X 2 gene (P2RX2) on chromosome 12q24.

UniProtKB/Swiss-Prot : 73 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.

Related Diseases for Deafness, Autosomal Dominant 41

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 Dominant 41 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 25 29.8 ZNF664 POU4F3 KCNQ4
2 branchiootic syndrome 1 29.7 SLC26A4 GJB2 CDH23
3 autosomal dominant non-syndromic sensorineural deafness type dfna 28.0 POU4F3 PDE1C P2RX2 KCNQ4 GSDME GJB2
4 sensorineural hearing loss 27.6 SLC26A4 POU4F3 P2RX2 KCNQ4 GSDME GJB2
5 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
6 deafness, autosomal recessive 55 10.2 P2RX2 CDH23
7 deafness, autosomal recessive 40 10.2 P2RX2 CDH23
8 deafness, autosomal recessive 83 10.1 SLC26A4 CDH23
9 y-linked deafness 10.1 KCNQ4 GSDME
10 deafness, autosomal dominant 28 10.0 KCNQ4 GSDME
11 deafness, autosomal dominant 44 9.9 POU4F3 KCNQ4
12 deafness, autosomal dominant 16 9.9 POU4F3 KCNQ4
13 baraitser-winter syndrome 9.8 SLC26A4 CDH23
14 nonsyndromic deafness 9.8 KCNQ4 GJB2
15 deafness, autosomal dominant 12 9.8 POU4F3 GSDME
16 y-linked monogenic disease 9.8 KCNQ4 GSDME CDH23
17 labyrinthitis 9.8 SLC26A4 GJB2
18 deafness, autosomal dominant 3a 9.8 GSDME GJB2
19 drug-induced hearing loss 9.8 SLC26A4 GJB2
20 deafness, autosomal recessive 91 9.8 GSDME GJB2
21 deafness, autosomal dominant 56 9.8 SLC26A4 GJB2
22 deafness, autosomal dominant 10 9.7 POU4F3 KCNQ4
23 deafness, autosomal recessive 9 9.7 SLC26A4 GJB2
24 deafness, autosomal dominant 64 9.7 KCNQ4 GJB2
25 ear malformation 9.7 SLC26A4 GJB2
26 non-syndromic genetic deafness 9.7 KCNQ4 GJB2
27 deafness, autosomal dominant 18 9.7 POU4F3 KCNQ4 GSDME
28 deafness, autosomal dominant 13 9.7 POU4F3 KCNQ4 GSDME
29 serous labyrinthitis 9.7 SLC26A4 GJB2
30 deafness, autosomal dominant 15 9.7 POU4F3 KCNQ4 GSDME
31 usher syndrome, type ic 9.6 GJB2 CDH23
32 autosomal recessive nonsyndromic deafness 9.5 SLC26A4 GJB2 CDH23
33 autosomal recessive nonsyndromic deafness 3 9.5 SLC26A4 GJB2 CDH23
34 deafness, autosomal recessive 7 9.5 SLC26A4 GJB2 CDH23
35 deafness, autosomal recessive 77 9.5 SLC26A4 GJB2 CDH23
36 deafness, autosomal recessive 16 9.5 SLC26A4 GJB2 CDH23
37 deafness, autosomal recessive 2 9.5 SLC26A4 GJB2 CDH23
38 usher syndrome, type i 9.5 SLC26A4 GJB2 CDH23
39 usher syndrome, type iia 9.5 SLC26A4 GJB2 CDH23
40 usher syndrome 9.5 SLC26A4 GJB2 CDH23
41 usher syndrome, type id 9.5 SLC26A4 GJB2 CDH23
42 waardenburg syndrome, type 1 9.5 GSDME GJB2
43 deafness, autosomal recessive 12 9.5 SLC26A4 GJB2 CDH23
44 pendred syndrome 9.5 SLC26A4 GJB2 CDH23
45 usher syndrome type 2 9.5 SLC26A4 GJB2 CDH23
46 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.5 SLC26A4 GJB2 CDH23
47 peripheral vertigo 9.5 SLC26A4 KCNQ4 GJB2
48 x-linked nonsyndromic deafness 9.4 SLC26A4 POU4F3 GJB2
49 deafness, x-linked 2 9.4 SLC26A4 POU4F3 GJB2
50 deafness, autosomal dominant 2b 9.3 POU4F3 KCNQ4 GJB2

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 41:



Diseases related to Deafness, Autosomal Dominant 41

Symptoms & Phenotypes for Deafness, Autosomal Dominant 41

Human phenotypes related to Deafness, Autosomal Dominant 41:

31
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365
2 tinnitus 31 HP:0000360
3 progressive sensorineural hearing impairment 31 HP:0000408

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
tinnitus
hearing loss, progressive sensorineural (most severe at high frequencies, but ultimately affecting all frequencies)

Clinical features from OMIM:

608224

UMLS symptoms related to Deafness, Autosomal Dominant 41:


tinnitus

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 41:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.5 CDH23 GJB2 GSDME KCNQ4 POU4F3 SFSWAP
2 nervous system MP:0003631 9.23 CDH23 GJB2 GSDME KCNQ4 P2RX2 POU4F3

Drugs & Therapeutics for Deafness, Autosomal Dominant 41

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 41

Genetic Tests for Deafness, Autosomal Dominant 41

Genetic tests related to Deafness, Autosomal Dominant 41:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 41 29 P2RX2

Anatomical Context for Deafness, Autosomal Dominant 41

Publications for Deafness, Autosomal Dominant 41

Articles related to Deafness, Autosomal Dominant 41:

# Title Authors PMID Year
1
Mutation of the ATP-gated P2X(2) receptor leads to progressive hearing loss and increased susceptibility to noise. 61 6 56
23345450 2013
2
A novel locus for autosomal dominant non-syndromic deafness (DFNA41) maps to chromosome 12q24-qter. 56 6 61
12161595 2002
3
A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss. 6 56
24211385 2014
4
Refinement of the DFNA41 locus and candidate genes analysis. 61 56
16195816 2005
5
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 6
24651602 2014
6
Progressive Dominant Hearing Loss (Autosomal Dominant Deafness-41) and P2RX2 Gene Mutations: A Phenotype-Genotype Study. 61
31593348 2020
7
Hearing loss mutations alter the functional properties of human P2X2 receptor channels through distinct mechanisms. 61
31636190 2019

Variations for Deafness, Autosomal Dominant 41

ClinVar genetic disease variations for Deafness, Autosomal Dominant 41:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 P2RX2 NM_170682.4(P2RX2):c.178G>T (p.Val60Leu)SNV Pathogenic 155762 rs587777692 12:133196029-133196029 12:132619443-132619443
2 P2RX2 NM_170682.4(P2RX2):c.1057G>C (p.Gly353Arg)SNV Pathogenic 155763 rs202138002 12:133198121-133198121 12:132621535-132621535

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

73
# Symbol AA change Variation ID SNP ID
1 P2RX2 p.Val60Leu VAR_070687 rs587777692
2 P2RX2 p.Gly353Arg VAR_070688 rs202138002

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

Biological processes related to Deafness, Autosomal Dominant 41 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inner ear morphogenesis GO:0042472 9.37 POU4F3 KCNQ4
2 response to ischemia GO:0002931 9.32 P2RX2 GJB2
3 inner ear development GO:0048839 9.26 POU4F3 GJB2
4 sensory perception of sound GO:0007605 9.17 SLC26A4 POU4F3 P2RX2 KCNQ4 GSDME GJB2
5 neuromuscular synaptic transmission GO:0007274 9.16 RIMBP2 P2RX2
6 inner ear receptor cell differentiation GO:0060113 8.96 POU4F3 GSDME

Sources for Deafness, Autosomal Dominant 41

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
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