MCID: YLN002
MIFTS: 17

Y-Linked Monogenic Disease

Categories: Genetic diseases

Aliases & Classifications for Y-Linked Monogenic Disease

MalaCards integrated aliases for Y-Linked Monogenic Disease:

Name: Y-Linked Monogenic Disease 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0050738

Summaries for Y-Linked Monogenic Disease

Disease Ontology : 12 A monogenic disease that has material basis in muations on the Y chromosome.

MalaCards based summary : Y-Linked Monogenic Disease is related to deafness, autosomal recessive 27 and deafness, autosomal recessive 22. An important gene associated with Y-Linked Monogenic Disease is TMC1 (Transmembrane Channel Like 1). Related phenotypes are behavior/neurological and hearing/vestibular/ear

Related Diseases for Y-Linked Monogenic Disease

Diseases in the Y-Linked Monogenic Disease family:

X-Linked Monogenic Disease

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

(show top 50) (show all 84)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 27 10.3 TMIE TMC1
2 deafness, autosomal recessive 22 10.2 TMIE STRC
3 deafness, autosomal recessive 48 10.2 TMC2 TMC1
4 deafness, autosomal recessive 6 10.2 TMIE CDH23
5 deafness, autosomal recessive 1b 10.2 STRC POU3F4
6 deafness, autosomal recessive 93 10.1 TMIE OTOF
7 deafness, x-linked 2 10.1 TMIE STRC POU3F4
8 deafness, autosomal recessive 30 10.1 PCDH15 MYO1A
9 deafness, autosomal recessive 91 10.1 GSDME CDH23
10 usher syndrome, type ik 10.1 PCDH15 CDH23
11 usher syndrome, type ih 10.1 PCDH15 CDH23
12 deafness, autosomal recessive 28 10.1 TMIE OTOF
13 deafness, autosomal recessive 18a 10.1 PCDH15 CDH23
14 deafness, y-linked 1 10.1 TMC2 TMC1 POU3F4
15 dfnb1 10.1 PCDH15 OTOF
16 usher syndrome, type ij 10.1 PCDH15 CDH23
17 deafness, autosomal dominant 16 10.1 STRC KCNQ4
18 deafness, autosomal dominant 30 10.1 TMIE TMC2 TMC1
19 deafness, autosomal dominant 18 10.1 KCNQ4 GSDME
20 deafness, autosomal recessive 63 10.0 TMIE TMC2 TMC1
21 deafness, autosomal dominant 28 10.0 KCNQ4 GSDME
22 deafness, autosomal recessive 86 10.0 PCDH15 CDH23
23 deafness, autosomal dominant 13 10.0 KCNQ4 GSDME
24 usher syndrome, type iid 10.0 PCDH15 CDH23
25 x-linked nonsyndromic deafness 10.0 POU3F4 OTOF
26 deafness, autosomal recessive 13 10.0 TMPRSS3 TMC1
27 deafness, autosomal recessive 23 10.0 PCDH15 CDH23
28 hereditary hearing loss and deafness 10.0 POU3F4 CDH23
29 deafness, autosomal dominant 17 10.0 MYO1A KCNQ4
30 deafness, autosomal dominant 9 10.0 KCNQ4 GSDME
31 deafness, autosomal recessive 67 10.0 TMIE TMC2 PCDH15
32 deafness, autosomal recessive 10.0 TMIE PCDH15 OTOF
33 usher syndrome, type ig 10.0 PCDH15 CDH23
34 deafness, x-linked 5, with peripheral neuropathy 10.0 POU3F4 OTOF
35 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 10.0 PCDH15 CDH23
36 acute hemorrhagic leukoencephalitis 9.9 KCNQ4 CDH23
37 deafness, autosomal recessive 39 9.9 TMPRSS3 STRC
38 usher syndrome, type if 9.9 STRC PCDH15 CDH23
39 usher syndrome, type iic 9.9 STRC PCDH15 CDH23
40 deafness, autosomal dominant 11 9.9 PCDH15 GSDME CDH23
41 deafness, autosomal dominant 12 9.9 STRC KCNQ4 GSDME
42 deafness, autosomal dominant 25 9.9 OTOF KCNQ4
43 branchiootic syndrome 1 9.9 TMC1 OTOF CDH23
44 deafness, autosomal recessive 77 9.8 TMPRSS3 CDH23
45 digenic disease 9.8 PCDH15 CDH23
46 deafness, autosomal dominant 41 9.8 KCNQ4 GSDME CDH23
47 deafness, autosomal dominant 15 9.8 TMC1 POU3F4 KCNQ4 GSDME
48 deafness, autosomal dominant 6 9.8 KCNQ4 GSDME CDH23
49 pendred syndrome 9.7 TMC1 POU3F4 OTOF CDH23
50 deafness, autosomal recessive 8 9.7 TMPRSS3 TMC1 OTOF

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



Diseases related to Y-Linked Monogenic Disease

Symptoms & Phenotypes for Y-Linked Monogenic Disease

MGI Mouse Phenotypes related to Y-Linked Monogenic Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.76 CDH23 OTOF PCDH15 POU3F4 TMC1 TMC2
2 hearing/vestibular/ear MP:0005377 9.73 CDH23 GSDME KCNQ4 MYO1A OTOF PCDH15
3 nervous system MP:0003631 9.36 CDH23 GSDME KCNQ4 OTOF PCDH15 POU3F4

Drugs & Therapeutics for Y-Linked Monogenic Disease

Search Clinical Trials , NIH Clinical Center for Y-Linked Monogenic Disease

Genetic Tests for Y-Linked Monogenic Disease

Anatomical Context for Y-Linked Monogenic Disease

Publications for Y-Linked Monogenic Disease

Variations for Y-Linked Monogenic Disease

Expression for Y-Linked Monogenic Disease

Search GEO for disease gene expression data for Y-Linked Monogenic Disease.

Pathways for Y-Linked Monogenic Disease

GO Terms for Y-Linked Monogenic Disease

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

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.81 TMPRSS3 TMIE TMC2 TMC1 PCDH15 OTOF
2 basal plasma membrane GO:0009925 9.26 MYO1A KCNQ4
3 stereocilium GO:0032420 9.13 STRC PCDH15 CDH23
4 stereocilium tip GO:0032426 8.8 TMC2 TMC1 STRC

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

# Name GO ID Score Top Affiliating Genes
1 inner ear development GO:0048839 9.43 POU3F4 PCDH15
2 photoreceptor cell maintenance GO:0045494 9.4 PCDH15 CDH23
3 sensory perception of light stimulus GO:0050953 9.37 PCDH15 CDH23
4 sensory perception of sound GO:0007605 9.36 TMPRSS3 TMIE TMC1 STRC POU3F4 PCDH15
5 regulation of calcium ion transmembrane transport GO:1903169 9.32 TMC2 TMC1
6 equilibrioception GO:0050957 9.26 PCDH15 CDH23
7 vestibular reflex GO:0060005 9.16 TMC2 TMC1
8 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.13 TMC2 TMC1 STRC

Molecular functions related to Y-Linked Monogenic Disease 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 Monogenic Disease

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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