MCID: YCH001
MIFTS: 21

Y Chromosome Infertility

Categories: Rare diseases, Reproductive diseases

Aliases & Classifications for Y Chromosome Infertility

MalaCards integrated aliases for Y Chromosome Infertility:

Name: Y Chromosome Infertility 24 53 25 38 73
Deleted in Azoospermia 53 13
Male Sterility Due to Y-Chromosome Deletions 53
Y Chromosome-Related Azoospermia 25
Spermatogenic Failure, Y-Linked 25
Y Chromosome Microdeletions 53
Y Chromosome Deletions 73
Daz 53

Characteristics:

HPO:

32
y chromosome infertility:
Inheritance y-linked inheritance


Classifications:



External Ids:

SNOMED-CT via HPO 69 425558002 48188009

Summaries for Y Chromosome Infertility

NIH Rare Diseases : 53 Y chromosome infertility is a condition that affects the production of sperm, making it difficult or impossible for affected men to father children. An affected man's body may produce no sperm cells (azoospermia), a smaller than usual number of sperm cells (oligospermia), or sperm cells that are abnormally shaped or that do not move properly. This condition accounts for between 5 percent and 10 percent of cases of azoospermia or severe oligospermia. As its name suggests, this form of infertility is caused by changes in the Y chromosome, one of the sex chromosomes. Y chromosome infertility is usually caused by deletions of genetic material in regions of the Y chromosome called azoospermia factor (AZF) A, B, or C. Genes in these regions are believed to provide instructions for making proteins involved in sperm cell development, although the specific functions of these proteins are not well understood. In rare cases, changes to a single gene called USP9Y, which is located in the AZFA region of the Y chromosome, can cause Y chromosome infertility. Some men with Y chromosome infertility who have mild to moderate oligospermia may eventually father a child naturally. Assisted reproductive technologies may help other affected men. Because Y chromosome infertility impedes the ability to father children, this condition is usually caused by new deletions on the Y chromosome and occurs in men with no history of the disorder in their family. When men with Y chromosome infertility do father children, either naturally or with the aid of assisted reproductive technologies, they pass on the genetic changes on the Y chromosome to all their sons. As a result, the sons will also have Y chromosome infertility.

MalaCards based summary : Y Chromosome Infertility, also known as deleted in azoospermia, is related to spermatogenic failure, y-linked, 2 and spermatogenic failure, y-linked, 1. The drugs Isotretinoin and Calcitriol have been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotypes are azoospermia and abnormality of metabolism/homeostasis

Genetics Home Reference : 25 Y chromosome infertility is a condition that affects the production of sperm, making it difficult or impossible for affected men to father children. An affected man's body may produce no sperm cells (azoospermia), a smaller than usual number of sperm cells (oligospermia), or sperm cells that are abnormally shaped or that do not move properly.

Wikipedia : 76 Y chromosome microdeletion (YCM) is a family of genetic disorders caused by missing gene(s) in the Y... more...

GeneReviews:

Related Diseases for Y Chromosome Infertility

Diseases related to Y Chromosome Infertility via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spermatogenic failure, y-linked, 2 12.7
2 spermatogenic failure, y-linked, 1 12.4
3 partial deletion of y 11.2
4 azoospermia 10.6
5 infertility 10.0

Graphical network of the top 20 diseases related to Y Chromosome Infertility:



Diseases related to Y Chromosome Infertility

Symptoms & Phenotypes for Y Chromosome Infertility

Human phenotypes related to Y Chromosome Infertility:

32
# Description HPO Frequency HPO Source Accession
1 azoospermia 32 HP:0000027
2 abnormality of metabolism/homeostasis 32 HP:0001939

Drugs & Therapeutics for Y Chromosome Infertility

Drugs for Y Chromosome Infertility (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

Search NIH Clinical Center for Y Chromosome Infertility

Genetic Tests for Y Chromosome Infertility

Anatomical Context for Y Chromosome Infertility

MalaCards organs/tissues related to Y Chromosome Infertility:

41
Bone

Publications for Y Chromosome Infertility

Articles related to Y Chromosome Infertility:

# Title Authors Year
1
Y Chromosome Infertility ( 20301513 )
1993

Variations for Y Chromosome Infertility

Expression for Y Chromosome Infertility

Search GEO for disease gene expression data for Y Chromosome Infertility.

Pathways for Y Chromosome Infertility

GO Terms for Y Chromosome Infertility

Sources for Y Chromosome Infertility

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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