MCID: PRT049
MIFTS: 33

Partial Deletion of Y

Categories: Rare diseases, Reproductive diseases, Fetal diseases

Aliases & Classifications for Partial Deletion of Y

MalaCards integrated aliases for Partial Deletion of Y:

Name: Partial Deletion of Y 53 29
Partial Deletion of the Long Arm of the Y Chromosome 53
Male Sterility Due to Chromosome Y Deletion 59
Partial Deletion of Y Chromosome Short Arm 53
Partial Deletion of Chromosome Y 53
Partial Chromosome Y Deletion 59
Y-Chromosome Microdeletions 53
Y Chromosome Deletions 73

Characteristics:

Orphanet epidemiological data:

59
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:

Orphanet 59 ORPHA1646
MESH via Orphanet 45 C536297
UMLS via Orphanet 74 C1507149 C2931163
ICD10 via Orphanet 34 Q98.6
SNOMED-CT via HPO 69 204878001 2904007 276411001
UMLS 73 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 RBMY1A1 (RNA Binding Motif Protein, Y-Linked, Family 1, Member A1). The drugs Isotretinoin and Calcitriol have been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotypes are cryptorchidism and oligospermia

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:

59 32 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
2 oligospermia 59 32 frequent (33%) Frequent (79-30%) HP:0000798
3 male infertility 59 32 hallmark (90%) Very frequent (99-80%) HP:0003251
4 decreased testicular size 59 32 hallmark (90%) Very frequent (99-80%) HP:0008734
5 non-obstructive azoospermia 59 32 hallmark (90%) Very frequent (99-80%) HP:0011961
6 abnormal spermatogenesis 59 Very frequent (99-80%)

Drugs & Therapeutics for Partial Deletion of Y

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

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Isotretinoin Approved Phase 2 4759-48-2 5538 5282379
2
Calcitriol Approved, Nutraceutical Phase 2 32222-06-3 134070 5280453
3
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
4
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 5538 444795
5 Micronutrients Phase 2
6 Dermatologic Agents Phase 2
7 Trace Elements Phase 2
8 Dihydroxycholecalciferols Phase 2
9 Vasoconstrictor Agents Phase 2
10 Vitamins Phase 2
11 Keratolytic Agents Phase 2
12 Bone Density Conservation Agents Phase 2
13 Calcium, Dietary 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 Recruiting NCT02527954
3 The Clinical Study of Sex Chromosome Variants Recruiting NCT01661010

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 29

Anatomical Context for Partial Deletion of Y

MalaCards organs/tissues related to Partial Deletion of Y:

41
Bone

Publications for Partial Deletion of Y

Articles related to Partial Deletion of Y:

# Title Authors Year
1
Effect of a partial deletion of Y chromosome on in vitro fertilizing ability of mouse spermatozoa. ( 1327209 )
1992
2
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 intracellular GO:0005622 9.56 DAZ1 DAZ2 DAZ3 DAZ4
3 nucleus GO:0005634 9.5 DAZ1 DAZ2 DAZ3 DAZ4 DDX3Y RBMY1A1
4 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 9.77 DAZ1 DAZ2 DAZ3 DAZ4 TSPY1
2 spermatogenesis GO:0007283 9.73 DAZ1 DAZ2 DAZ3 DAZ4 TSPY1 USP9Y
3 cell differentiation GO:0030154 9.72 DAZ1 DAZ2 DAZ3 DAZ4 TSPY1
4 germ cell development GO:0007281 9.46 DAZ1 DAZ2 DAZ3 DAZ4
5 positive regulation of translational initiation GO:0045948 9.26 DAZ1 DAZ2 DAZ3 DAZ4
6 3-UTR-mediated mRNA stabilization GO:0070935 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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