MCID: YCH001
MIFTS: 20

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 23 49 24 37 69
Y Chromosome-Related Azoospermia 23 24
Deleted in Azoospermia 49 13
Male Sterility Due to Y-Chromosome Deletions 49
Spermatogenic Failure, Y-Linked 24
Y Chromosome Microdeletions 49
Y Chromosome Deletions 69
Daz 49

Characteristics:

HPO:

31
y chromosome infertility:
Inheritance y-linked inheritance


GeneReviews:

23
Penetrance Rarely within a family, the same deletion of the y chromosome has been reported to occasionally cause infertility in some males but not in others [chang et al 1999, saut et al 2000, gatta et al 2002, repping et al 2003]. these observations have been misinterpreted as representing variable penetrance. however, they result from the fact that even a severely oligospermic male with a y chromosome deletion in the azf regions can occasionally impregnate a very fertile partner...

Classifications:



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SNOMED-CT via HPO 65 425558002 48188009

Summaries for Y Chromosome Infertility

NIH Rare Diseases : 49 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. Last updated: 12/18/2015

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

Genetics Home Reference : 24 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.

GeneReviews: NBK1339

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 9.8

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:

31
# Description HPO Frequency HPO Source Accession
1 azoospermia 31 HP:0000027
2 abnormality of metabolism/homeostasis 31 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 5282379 5538
2
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
3
Calcitriol Approved, Nutraceutical Phase 2 32222-06-3 5280453 134070
4
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 5538
5 Micronutrients Phase 2
6 Trace Elements Phase 2
7 Vasoconstrictor Agents Phase 2
8 Dermatologic Agents Phase 2
9 Dihydroxycholecalciferols 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:

38
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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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