DFNA41
MCID: DFN155
MIFTS: 34

Deafness, Autosomal Dominant 41 (DFNA41)

Categories: 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 57 29 13 6 70
Dfna41 57 12 72
Autosomal Dominant Nonsyndromic Deafness 41 12 15
Deafness, Autosomal Dominant, Type 41 39
Deafness, Autosomal Dominant, 41 72
Autosomal Dominant Deafness 41 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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® 57 608224
OMIM Phenotypic Series 57 PS124900
MeSH 44 D003638
ICD10 32 H90.3
MedGen 41 C1842371
UMLS 70 C1842371

Summaries for Deafness, Autosomal Dominant 41

OMIM® : 57 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) (Updated 05-Apr-2021)

MalaCards based summary : Deafness, Autosomal Dominant 41, also known as dfna41, is related to branchiootic syndrome 1 and deafness, autosomal dominant 25, 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 : 72 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 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 41 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 1 29.7 SLC26A4 GJB2 CDH23
2 deafness, autosomal dominant 25 29.6 ZNF664 POU4F3 KCNQ4
3 sensorineural hearing loss 28.2 SLC26A4 POU4F3 P2RX2 KCNQ4 GSDME GJB2
4 autosomal dominant non-syndromic sensorineural deafness type dfna 27.5 SLC26A4 POU4F3 PDE1C P2RX2 KCNQ4 GSDME
5 deafness, autosomal recessive 55 10.2 P2RX2 CDH23
6 deafness, autosomal recessive 40 10.2 P2RX2 CDH23
7 deafness, autosomal recessive 83 10.1 SLC26A4 CDH23
8 branchiootic syndrome 10.1 SLC26A4 KCNQ4
9 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
10 hearing loss, noise-induced 10.0
11 age-related hearing loss 10.0
12 deafness, autosomal dominant 28 10.0 KCNQ4 GSDME
13 deafness, autosomal dominant 13 10.0 KCNQ4 GSDME
14 acute hemorrhagic leukoencephalitis 10.0 KCNQ4 CDH23
15 deafness, autosomal dominant 44 9.9 POU4F3 KCNQ4
16 nonsyndromic deafness 9.9 KCNQ4 GJB2
17 deafness, autosomal dominant 16 9.9 POU4F3 KCNQ4
18 baraitser-winter syndrome 9.9 SLC26A4 CDH23
19 y-linked monogenic disease 9.9 KCNQ4 GSDME CDH23
20 serous labyrinthitis 9.9 SLC26A4 GJB2
21 labyrinthitis 9.9 SLC26A4 GJB2
22 deafness, autosomal dominant 56 9.9 SLC26A4 GJB2
23 drug-induced hearing loss 9.8 SLC26A4 GJB2
24 deafness, autosomal dominant 3a 9.8 GSDME GJB2
25 deafness, autosomal dominant 64 9.8 KCNQ4 GJB2
26 deafness, autosomal dominant 18 9.8 POU4F3 KCNQ4 GSDME
27 deafness, autosomal dominant 15 9.8 POU4F3 KCNQ4 GSDME
28 deafness, autosomal dominant 10 9.8 POU4F3 KCNQ4 GSDME
29 deafness, autosomal dominant 12 9.8 POU4F3 KCNQ4 GSDME
30 deafness, autosomal recessive 16 9.8 GJB2 CDH23
31 ear malformation 9.8 SLC26A4 GJB2
32 usher syndrome, type ic 9.7 GJB2 CDH23
33 deafness, autosomal recessive 91 9.7 GSDME GJB2 CDH23
34 deafness, autosomal recessive 9.7 SLC26A4 GJB2 CDH23
35 autosomal recessive nonsyndromic deafness 9.7 SLC26A4 GJB2 CDH23
36 autosomal recessive nonsyndromic deafness 3 9.7 SLC26A4 GJB2 CDH23
37 deafness, autosomal recessive 9 9.7 SLC26A4 GJB2 CDH23
38 hereditary hearing loss and deafness 9.7 GSDME GJB2 CDH23
39 deafness, autosomal recessive 7 9.7 SLC26A4 GJB2 CDH23
40 deafness, autosomal recessive 77 9.7 SLC26A4 GJB2 CDH23
41 deafness, autosomal recessive 2 9.7 SLC26A4 GJB2 CDH23
42 auditory neuropathy, autosomal dominant, 1 9.7 KCNQ4 GJB2
43 usher syndrome, type id 9.7 SLC26A4 GJB2 CDH23
44 deafness, autosomal recessive 12 9.7 SLC26A4 GJB2 CDH23
45 pendred syndrome 9.7 SLC26A4 GJB2 CDH23
46 usher syndrome, type iia 9.6 SLC26A4 GJB2 CDH23
47 stickler syndrome 9.6 SLC26A4 GJB2 CDH23
48 peripheral vertigo 9.6 SLC26A4 KCNQ4 GJB2
49 usher syndrome type 2 9.6 SLC26A4 GJB2 CDH23
50 meniere disease 9.6 SLC26A4 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®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
tinnitus
hearing loss, progressive sensorineural (most severe at high frequencies, but ultimately affecting all frequencies)

Clinical features from OMIM®:

608224 (Updated 05-Apr-2021)

UMLS symptoms related to Deafness, Autosomal Dominant 41:


tinnitus

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 41:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.7 CDH23 GJB2 GSDME KCNQ4 POU4F3 SFSWAP
2 homeostasis/metabolism MP:0005376 9.61 CDH23 GJB2 GSDME P2RX2 POU4F3 RIMBP2
3 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 57
23345450 2013
2
A novel locus for autosomal dominant non-syndromic deafness (DFNA41) maps to chromosome 12q24-qter. 57 6 61
12161595 2002
3
A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss. 6 57
24211385 2014
4
Refinement of the DFNA41 locus and candidate genes analysis. 61 57
16195816 2005
5
Generation and characterization of a P2rx2 V60L mouse model for DFNA41. 61
33791800 2021
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 Position
1 P2RX2 NM_170682.4(P2RX2):c.178G>T (p.Val60Leu) SNV Pathogenic 155762 rs587777692 GRCh37: 12:133196029-133196029
GRCh38: 12:132619443-132619443
2 P2RX2 NM_170682.4(P2RX2):c.1057G>C (p.Gly353Arg) SNV Pathogenic 155763 rs202138002 GRCh37: 12:133198121-133198121
GRCh38: 12:132621535-132621535
3 P2RX2 NM_170682.4(P2RX2):c.448del (p.Leu150fs) Deletion Pathogenic 1027874 GRCh37: 12:133196496-133196496
GRCh38: 12:132619910-132619910
4 P2RX2 NM_170682.4(P2RX2):c.491A>G (p.Gln164Arg) SNV Pathogenic 501253 rs142844880 GRCh37: 12:133196619-133196619
GRCh38: 12:132620033-132620033
5 P2RX2 NM_170682.4(P2RX2):c.905G>C (p.Arg302Thr) SNV Uncertain significance 931212 GRCh37: 12:133197717-133197717
GRCh38: 12:132621131-132621131
6 P2RX2 NM_170682.4(P2RX2):c.381+2T>C SNV Uncertain significance 504852 rs200978001 GRCh37: 12:133196338-133196338
GRCh38: 12:132619752-132619752

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

72
# 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
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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