DFNY1
MCID: DFN186
MIFTS: 26

Deafness, Y-Linked 1 (DFNY1)

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

Aliases & Classifications for Deafness, Y-Linked 1

MalaCards integrated aliases for Deafness, Y-Linked 1:

Name: Deafness, Y-Linked 1 57 13 70
Y-Linked Deafness 1 12 15
Dfny1 57 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
y-linked

Miscellaneous:
onset between 7 and 27 years of age


HPO:

31
deafness, y-linked 1:
Inheritance y-linked inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111759
OMIM® 57 400043
OMIM Phenotypic Series 57 PS400043
MedGen 41 C3888076
UMLS 70 C3888076

Summaries for Deafness, Y-Linked 1

OMIM® : 57 Y-linked deafness-1 (DFNY1) is characterized by male-limited postlingual progressive sensorineural hearing loss of variable severity, with onset in the first to third decades of life (Wang et al., 2009). (400043) (Updated 05-Apr-2021)

MalaCards based summary : Deafness, Y-Linked 1, also known as y-linked deafness 1, is related to deafness, y-linked 2 and deafness, autosomal dominant 30. An important gene associated with Deafness, Y-Linked 1 is DFNY1 (Deafness, Y-Linked 1). Related phenotypes are tinnitus and sensorineural hearing impairment

Disease Ontology : 12 A Y-linked deafness characterized by male-limited postlingual progressive sensorineural hearing loss of variable severity, with onset in the first to third decades of life.

Wikipedia : 73 Deafness, Y-linked 1 (DFNY1) is a protein that in humans is encoded by the DFNY1 gene. Y-linked hearing... more...

Related Diseases for Deafness, Y-Linked 1

Graphical network of the top 20 diseases related to Deafness, Y-Linked 1:



Diseases related to Deafness, Y-Linked 1

Symptoms & Phenotypes for Deafness, Y-Linked 1

Human phenotypes related to Deafness, Y-Linked 1:

31
# Description HPO Frequency HPO Source Accession
1 tinnitus 31 occasional (7.5%) HP:0000360
2 sensorineural hearing impairment 31 HP:0000407

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
hearing loss, sensorineural, postlingual progressive, moderate to severe
tinnitus (less common)

Clinical features from OMIM®:

400043 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Y-Linked 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.8 POU3F4 TMC1 TMC2

Drugs & Therapeutics for Deafness, Y-Linked 1

Search Clinical Trials , NIH Clinical Center for Deafness, Y-Linked 1

Genetic Tests for Deafness, Y-Linked 1

Anatomical Context for Deafness, Y-Linked 1

Publications for Deafness, Y-Linked 1

Articles related to Deafness, Y-Linked 1:

# Title Authors PMID Year
1
Genetic basis of Y-linked hearing impairment. 61 57
23352258 2013
2
The large Chinese family with Y-linked hearing loss revisited: clinical investigation. 61 57
18720061 2009
3
The audiological characteristics of a hereditary Y-linked hearing loss in a Chinese ethnic Tujia pedigree. 57
21130505 2011
4
Y-linked inheritance of non-syndromic hearing impairment in a large Chinese family. 57
15173246 2004
5
[Detection of POU3F4 gene mutations in the Chinese pedigree with Y-linked hereditary hearing impairment]. 61
16229168 2005

Variations for Deafness, Y-Linked 1

Expression for Deafness, Y-Linked 1

Search GEO for disease gene expression data for Deafness, Y-Linked 1.

Pathways for Deafness, Y-Linked 1

GO Terms for Deafness, Y-Linked 1

Cellular components related to Deafness, Y-Linked 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 stereocilium tip GO:0032426 8.62 TMC2 TMC1

Biological processes related to Deafness, Y-Linked 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.43 TMC8 TMC2 TMC1
2 sensory perception of sound GO:0007605 9.37 TMC1 POU3F4
3 calcium ion transmembrane transport GO:0070588 9.32 TMC2 TMC1
4 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.16 TMC2 TMC1
5 regulation of calcium ion transmembrane transport GO:1903169 8.96 TMC2 TMC1
6 vestibular reflex GO:0060005 8.62 TMC2 TMC1

Molecular functions related to Deafness, Y-Linked 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated calcium channel activity GO:0005245 8.96 TMC2 TMC1
2 mechanosensitive ion channel activity GO:0008381 8.8 TMC8 TMC2 TMC1

Sources for Deafness, Y-Linked 1

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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