DFNY
MCID: YLN003
MIFTS: 21

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 62)
# Related Disease Score Top Affiliating Genes
1 deafness, y-linked 1 32.7 TMC2 TMC1 POU3F4 DFNY1
2 deafness, y-linked 2 12.2
3 deafness, autosomal recessive 6 10.3 TMIE TMC1
4 deafness, autosomal recessive 27 10.2 TMIE TMC1
5 deafness, autosomal recessive 1b 10.1 STRC POU3F4
6 nonsyndromic deafness 10.0 PCDH15 KCNQ4
7 deafness, autosomal dominant 16 10.0 STRC KCNQ4
8 deafness, autosomal dominant 18 10.0 KCNQ4 GSDME
9 deafness, autosomal recessive 23 10.0 TMC1 PCDH15
10 deafness, autosomal dominant 13 10.0 KCNQ4 GSDME
11 deafness, autosomal dominant 28 10.0 KCNQ4 GSDME
12 deafness, autosomal dominant 41 10.0 KCNQ4 GSDME
13 deafness, autosomal dominant 9 9.9 KCNQ4 GSDME
14 deafness, x-linked 2 9.9 TMIE STRC POU3F4
15 deafness, autosomal dominant 6 9.9 KCNQ4 GSDME
16 deafness, autosomal recessive 9 9.9 TMC1 OTOF
17 usher syndrome, type if 9.9 STRC PCDH15
18 deafness, autosomal recessive 93 9.9 TMC1 OTOF
19 waardenburg syndrome, type 1 9.9 POU3F4 GSDME
20 deafness, autosomal dominant 11 9.9 PCDH15 GSDME
21 autosomal recessive nonsyndromic deafness 3 9.9 TMC1 OTOF
22 deafness, x-linked 5, with peripheral neuropathy 9.9 POU3F4 OTOF
23 usher syndrome, type id 9.8 TMC1 STRC PCDH15
24 usher syndrome, type iic 9.8 STRC PCDH15
25 deafness, autosomal dominant 30 9.8 TMIE TMC2 TMC1
26 deafness, autosomal recessive 28 9.8 TMIE OTOF
27 deafness, autosomal dominant 15 9.8 TMC1 KCNQ4 GSDME
28 deafness, autosomal dominant 20 9.8 TMC1 KCNQ4 GSDME
29 deafness, autosomal recessive 63 9.8 TMIE TMC2 TMC1
30 deafness, autosomal recessive 8 9.8 TMC1 OTOF
31 deafness, autosomal recessive 61 9.8 STRC OTOF
32 autosomal dominant non-syndromic sensorineural deafness type dfna 9.8 TMC1 KCNQ4 GSDME
33 dfnb1 9.7 PCDH15 OTOF
34 deafness, autosomal recessive 48 9.7 TMC2 TMC1 PCDH15
35 x-linked nonsyndromic deafness 9.7 POU3F4 OTOF
36 deafness, autosomal dominant 25 9.7 OTOF KCNQ4
37 deafness, autosomal recessive 67 9.7 TMIE TMC2 PCDH15
38 deafness, autosomal recessive 22 9.6 TMIE STRC OTOF
39 epidermodysplasia verruciformis 1 9.5 TMC2 TMC1
40 branchiootic syndrome 1 9.5 TMC1 OTOF
41 deafness, autosomal recessive 9.5 TMIE PCDH15 OTOF
42 deafness, autosomal recessive 2 9.5 TMC1 PCDH15 OTOF
43 usher syndrome, type iia 9.5 STRC PCDH15 OTOF
44 usher syndrome, type ic 9.4 TMIE TMC2 TMC1 PCDH15
45 usher syndrome type 2 9.2 TMC1 STRC PCDH15 OTOF
46 deafness, autosomal recessive 16 9.2 TMIE STRC PCDH15 OTOF
47 deafness, autosomal recessive 7 9.2 TMIE TMC2 TMC1 OTOF
48 vestibular disease 9.1 POU3F4 PCDH15 OTOF KCNQ4
49 deafness, autosomal recessive 12 9.0 TMIE TMC1 STRC PCDH15 OTOF
50 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.0 TMIE TMC1 STRC PCDH15 OTOF

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.61 GSDME KCNQ4 OTOF PCDH15 POU3F4 STRC
2 nervous system MP:0003631 9.28 GSDME KCNQ4 OTOF PCDH15 POU3F4 STRC

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 morphogenesis GO:0042472 9.4 TMIE KCNQ4
2 inner ear development GO:0048839 9.37 POU3F4 PCDH15
3 auditory receptor cell stereocilium organization GO:0060088 9.32 STRC PCDH15
4 regulation of calcium ion transmembrane transport GO:1903169 9.26 TMC2 TMC1
5 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.26 TMC2 TMC1 STRC PCDH15
6 sensory perception of sound GO:0007605 9.23 TMIE TMC1 STRC POU3F4 PCDH15 OTOF
7 vestibular reflex GO:0060005 9.16 TMC2 TMC1

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 9.16 TMC2 TMC1
2 ion channel activity GO:0005216 9.13 TMC2 TMC1 KCNQ4
3 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
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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