MCID: PRT049
MIFTS: 33

Partial Deletion of Y

Categories: Fetal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Partial Deletion of Y

MalaCards integrated aliases for Partial Deletion of Y:

Name: Partial Deletion of Y 54 30
Partial Deletion of the Long Arm of the Y Chromosome 54
Male Sterility Due to Chromosome Y Deletion 60
Partial Deletion of Y Chromosome Short Arm 54
Partial Deletion of Chromosome Y 54
Partial Chromosome Y Deletion 60
Y-Chromosome Microdeletions 54
Y Chromosome Deletions 74

Characteristics:

Orphanet epidemiological data:

60
partial chromosome y deletion
Inheritance: Not applicable,Y-linked; Prevalence: 1-5/10000 (Worldwide),1-5/10000 (Europe); Age of onset: Adult; Age of death: normal life expectancy;

Classifications:



External Ids:

MESH via Orphanet 46 C536297
ICD10 via Orphanet 35 Q98.6
UMLS via Orphanet 75 C1507149 C2931163
Orphanet 60 ORPHA1646
SNOMED-CT via HPO 70 204878001 276411001 2904007
UMLS 74 C1507149

Summaries for Partial Deletion of Y

MalaCards based summary : Partial Deletion of Y, also known as partial deletion of the long arm of the y chromosome, is related to oligospermia and infertility. An important gene associated with Partial Deletion of Y is TSPY1 (Testis Specific Protein Y-Linked 1). The drugs Isotretinoin and Vitamin D have been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotypes are decreased testicular size and male infertility

Related Diseases for Partial Deletion of Y

Graphical network of the top 20 diseases related to Partial Deletion of Y:



Diseases related to Partial Deletion of Y

Symptoms & Phenotypes for Partial Deletion of Y

Human phenotypes related to Partial Deletion of Y:

60 33 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 decreased testicular size 60 33 hallmark (90%) Very frequent (99-80%) HP:0008734
2 male infertility 60 33 hallmark (90%) Very frequent (99-80%) HP:0003251
3 non-obstructive azoospermia 60 33 hallmark (90%) Very frequent (99-80%) HP:0011961
4 oligospermia 60 33 frequent (33%) Frequent (79-30%) HP:0000798
5 cryptorchidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000028
6 abnormal spermatogenesis 60 Very frequent (99-80%)

GenomeRNAi Phenotypes related to Partial Deletion of Y according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 8.8 DAZ2 DAZ3 DAZ4

Drugs & Therapeutics for Partial Deletion of Y

Drugs for Partial Deletion of Y (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Isotretinoin Approved Phase 2 4759-48-2 5282379 5538
2
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
3
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
4
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 444795 5538
5
Calcitriol Approved, Nutraceutical Phase 2 32222-06-3 5280453 134070
6 Dermatologic Agents Phase 2
7 Nutrients Phase 2
8 Calciferol Phase 2
9 Keratolytic Agents Phase 2
10 Calcium, Dietary Phase 2
11 Vitamins Phase 2
12 Trace Elements Phase 2
13 Bone Density Conservation Agents Phase 2
14 Hormones Phase 2
15 Vasoconstrictor Agents Phase 2
16 Dihydroxycholecalciferols Phase 2
17 Micronutrients Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 RA-2 13-cis Retinoic Acid (Isotretinoin) Active, not recruiting NCT02061384 Phase 2 13-cis retinoic acid;Calcitriol
2 Aneuploidies in Embryos and Spermatozoa From Patients With Y-chromosome Microdeletions Terminated NCT02527954

Search NIH Clinical Center for Partial Deletion of Y

Genetic Tests for Partial Deletion of Y

Genetic tests related to Partial Deletion of Y:

# Genetic test Affiliating Genes
1 Partial Deletion of Y 30

Anatomical Context for Partial Deletion of Y

MalaCards organs/tissues related to Partial Deletion of Y:

42
Bone

Publications for Partial Deletion of Y

Articles related to Partial Deletion of Y:

# Title Authors Year
1
Mice With Partial Deletion of Y-Heterochromatin Exhibits Stress Vulnerability. ( 30297990 )
2018
2
Effect of a partial deletion of Y chromosome on in vitro fertilizing ability of mouse spermatozoa. ( 1327209 )
1992
3
Turner syndrome resulting from partial deletion of Y chromosome short arm: localization of male determinants. ( 6542134 )
1984

Variations for Partial Deletion of Y

Expression for Partial Deletion of Y

Search GEO for disease gene expression data for Partial Deletion of Y.

Pathways for Partial Deletion of Y

GO Terms for Partial Deletion of Y

Cellular components related to Partial Deletion of Y according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.7 DAZ1 DAZ2 DAZ3 DAZ4 DDX3Y TSPY1
2 nucleus GO:0005634 9.5 DAZ1 DAZ2 DAZ3 DAZ4 DDX3Y RBMY1A1
3 protein-containing complex GO:0032991 8.92 DAZ1 DAZ2 DAZ3 DAZ4

Biological processes related to Partial Deletion of Y according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.72 DAZ1 DAZ2 DAZ3 DAZ4 TSPY1
2 cell differentiation GO:0030154 9.65 DAZ1 DAZ2 DAZ3 DAZ4 TSPY1
3 spermatogenesis GO:0007283 9.63 DAZ1 DAZ2 DAZ3 DAZ4 TSPY1 USP9Y
4 germ cell development GO:0007281 9.26 DAZ1 DAZ2 DAZ3 DAZ4
5 positive regulation of translational initiation GO:0045948 8.92 DAZ1 DAZ2 DAZ3 DAZ4

Molecular functions related to Partial Deletion of Y according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.73 DAZ1 DAZ2 DAZ3 DAZ4 DDX3Y RBMY1A1
2 mRNA 3'-UTR binding GO:0003730 9.46 DAZ1 DAZ2 DAZ3 DAZ4
3 mRNA binding GO:0003729 9.35 DAZ1 DAZ2 DAZ3 DAZ4 RBMY1A1
4 translation activator activity GO:0008494 8.92 DAZ1 DAZ2 DAZ3 DAZ4

Sources for Partial Deletion of Y

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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