DFNY
MCID: YLN003
MIFTS: 20

Y-Linked Deafness (DFNY)

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

Aliases & Classifications for Y-Linked Deafness

MalaCards integrated aliases for Y-Linked Deafness:

Name: Y-Linked Deafness 12 15
Deafness, Y-Linked 36
Dfny 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111757
KEGG 36 H02336

Summaries for Y-Linked Deafness

KEGG : 36 Hearing loss is the most common sensory disorder in humans. Hereditary hearing loss (HHL) contributes to more than 60% of deafness cases, with autosomal dominant, recessive, and X-linked forms. Although Y-linked deafness is unusual and extremely rare, missense mutations in the TBL1Y gene has been found in families affected by HHL.

MalaCards based summary : Y-Linked Deafness, also known as deafness, y-linked, is related to deafness, y-linked 1 and deafness, y-linked 2. An important gene associated with Y-Linked Deafness is DFNY1 (Deafness, Y-Linked 1). Related phenotypes are hearing/vestibular/ear and nervous system

Disease Ontology : 12 A nonsyndromic deafness characterized by a Y-lnked inheritance mode.

Related Diseases for Y-Linked Deafness

Diseases in the Y-Linked Deafness family:

Deafness, X-Linked 3 Deafness, X-Linked 4
Deafness, X-Linked 6 Deafness, X-Linked 7
Deafness, X-Linked 2 Deafness, X-Linked 1
Deafness, Y-Linked 1 Deafness, Y-Linked 2
X-Linked Nonsyndromic Deafness

Diseases related to Y-Linked Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 deafness, y-linked 1 31.9 TMC2 TMC1 POU3F4 DFNY1
2 deafness, y-linked 2 11.6
3 deafness, autosomal recessive 27 10.2 TMIE TMC1
4 deafness, autosomal recessive 22 10.1 TMIE STRC
5 deafness, autosomal dominant 20 10.1 TMC1 GSDME
6 deafness, autosomal recessive 1b 10.1 STRC POU3F4
7 deafness, autosomal recessive 93 10.1 TMIE OTOF
8 deafness, autosomal recessive 8 10.0 TMC1 OTOF
9 deafness, autosomal recessive 28 10.0 TMIE OTOF
10 deafness, autosomal dominant 12 10.0 STRC GSDME
11 x-linked nonsyndromic deafness 10.0 POU3F4 OTOF
12 deafness, autosomal dominant 15 10.0 TMC1 POU3F4 GSDME
13 deafness, x-linked 5, with peripheral neuropathy 10.0 POU3F4 OTOF
14 deafness, x-linked 2 9.9 TMIE STRC POU3F4
15 branchiootic syndrome 1 9.9 TMC1 OTOF
16 usher syndrome, type if 9.9 STRC PCDH15
17 dfnb1 9.9 PCDH15 OTOF
18 deafness, autosomal recessive 48 9.9 TMC2 TMC1
19 deafness, autosomal dominant 11 9.9 PCDH15 GSDME
20 pendred syndrome 9.9 TMC1 POU3F4 OTOF
21 deafness, autosomal recessive 9 9.9 TMIE TMC1 OTOF
22 deafness, autosomal recessive 30 9.9 PCDH15 MYO1A
23 usher syndrome, type iic 9.9 STRC PCDH15
24 autosomal recessive nonsyndromic deafness 3 9.8 TMC1 OTOF MYO1A
25 deafness, autosomal recessive 9.8 TMIE PCDH15 OTOF
26 deafness, autosomal recessive 2 9.8 TMC1 PCDH15 OTOF
27 deafness, autosomal dominant 30 9.8 TMIE TMC2 TMC1
28 deafness, autosomal recessive 63 9.7 TMIE TMC2 TMC1
29 epidermodysplasia verruciformis 1 9.7 TMC2 TMC1
30 vestibular disease 9.7 STRC PCDH15 OTOF
31 deafness, autosomal recessive 16 9.7 TMIE TMC1 STRC OTOF
32 deafness, autosomal recessive 67 9.6 TMIE TMC2 PCDH15
33 inner ear disease 9.6 PCDH15 OTOF
34 usher syndrome, type iia 9.6 TMC1 STRC PCDH15 OTOF
35 deafness, autosomal recessive 7 9.5 TMIE TMC2 TMC1 OTOF
36 usher syndrome, type ic 9.4 TMIE TMC2 TMC1 PCDH15
37 nonsyndromic hearing loss 9.4 TMIE TMC1 POU3F4 PCDH15 OTOF
38 deafness, autosomal recessive 1a 9.4 TMC1 STRC OTOF MYO1A GSDME
39 usher syndrome, type id 9.4 TMIE TMC1 STRC PCDH15 OTOF
40 deafness, autosomal recessive 12 9.4 TMIE TMC1 STRC PCDH15 OTOF
41 usher syndrome type 2 9.4 TMIE TMC1 STRC PCDH15 OTOF
42 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.3 TMIE TMC1 STRC PCDH15 OTOF
43 autosomal dominant non-syndromic sensorineural deafness type dfna 9.0 TMC1 STRC PCDH15 OTOF MYO1A GSDME
44 retinitis pigmentosa 9.0 TMC1 STRC PCDH15 OTOF MYO1A
45 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 8.9 TMIE TMC1 STRC POU3F4 PCDH15 OTOF
46 rare genetic deafness 8.9 TMIE TMC1 STRC POU3F4 PCDH15 OTOF
47 autosomal recessive nonsyndromic deafness 8.9 TMIE TMC2 TMC1 STRC PCDH15 OTOF
48 usher syndrome, type i 8.9 TMIE TMC2 TMC1 STRC PCDH15 OTOF
49 usher syndrome 8.9 TMIE TMC2 TMC1 STRC PCDH15 OTOF
50 deafness, autosomal dominant 36 8.9 TMIE TMC2 TMC1 PCDH15 OTOF GSDME

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



Diseases related to Y-Linked Deafness

Symptoms & Phenotypes for Y-Linked Deafness

MGI Mouse Phenotypes related to Y-Linked Deafness:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.61 GSDME MYO1A OTOF PCDH15 POU3F4 STRC
2 nervous system MP:0003631 9.23 GSDME OTOF PCDH15 POU3F4 STRC TMC1

Drugs & Therapeutics for Y-Linked Deafness

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

Genetic Tests for Y-Linked Deafness

Anatomical Context for Y-Linked Deafness

Publications for Y-Linked Deafness

Variations for Y-Linked Deafness

Expression for Y-Linked Deafness

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

Pathways for Y-Linked Deafness

GO Terms for Y-Linked Deafness

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

# Name GO ID Score Top Affiliating Genes
1 stereocilium GO:0032420 8.96 STRC PCDH15
2 stereocilium tip GO:0032426 8.8 TMC2 TMC1 STRC

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

# Name GO ID Score Top Affiliating Genes
1 inner ear development GO:0048839 9.32 POU3F4 PCDH15
2 regulation of calcium ion transmembrane transport GO:1903169 9.26 TMC2 TMC1
3 sensory perception of sound GO:0007605 9.23 TMIE TMC1 STRC POU3F4 PCDH15 OTOF
4 vestibular reflex GO:0060005 9.16 TMC2 TMC1
5 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.13 TMC2 TMC1 STRC

Molecular functions related to Y-Linked Deafness 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 8.62 TMC2 TMC1

Sources for Y-Linked Deafness

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