Y Chromosome Infertility (DAZ)

Categories: Rare diseases, Reproductive diseases

Aliases & Classifications for Y Chromosome Infertility

MalaCards integrated aliases for Y Chromosome Infertility:

Name: Y Chromosome Infertility 24 52 25 37 71
Y Chromosome-Related Azoospermia 24 25
Male Sterility Due to Y-Chromosome Deletions 52
Spermatogenic Failure, Y-Linked 25
Y Chromosome Microdeletions 52
Deleted in Azoospermia 52
Y Chromosome Deletions 71
Daz 52



y chromosome infertility:
Inheritance y-linked inheritance


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 [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.


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SNOMED-CT via HPO 68 425558002 48188009
UMLS 71 C1507149 C3711648

Summaries for Y Chromosome Infertility

NIH Rare Diseases : 52 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 y chromosome-related azoospermia, is related to infertility and phelan-mcdermid syndrome. An important gene associated with Y Chromosome Infertility is BPY2 (Basic Charge Y-Linked 2). Affiliated tissues include testes, and related phenotypes are abnormality of metabolism/homeostasis and azoospermia

Genetics Home Reference : 25 Y chromosome infertility is a condition that affects the production of sperm and causes male infertility, which means it is difficult or impossible for affected men to father children. An affected man's body may produce no mature sperm cells (azoospermia), fewer than the usual number of sperm cells (oligospermia), or sperm cells that are abnormally shaped or that do not move properly. Men with Y chromosome infertility do not have any other signs or symptoms related to the condition. Some men with Y chromosome infertility who have mild to moderate oligospermia may eventually father a child naturally. Men with oligospermia may also be helped with assisted reproductive technologies; most men with Y chromosome infertility have some sperm cells in the testes that can be extracted for this purpose.

GeneReviews: NBK1339

Related Diseases for Y Chromosome Infertility

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

(showing 39, show less)
# Related Disease Score Top Affiliating Genes
1 infertility 29.6 USP9Y DDX3Y DAZ1
2 phelan-mcdermid syndrome 29.2 USP9Y RBMY1A1 DAZ1
3 partial deletion of y 28.3 USP9Y RBMY1A1 DDX3Y DAZ3 DAZ2 DAZ1
4 azoospermia 28.0 USP9Y RBMY1A1 DDX3Y DAZ3 DAZ2 DAZ1
5 male infertility 27.9 USP9Y RBMY1A1 DDX3Y DAZ3 DAZ2 DAZ1
6 spermatogenic failure, y-linked, 2 23.7 XKRY VCY USP9Y RPS4Y2 RBMY1A1 PRY2
7 spermatogenic failure, x-linked, 1 10.5
8 varicocele 10.4
9 chromophobe renal cell carcinoma 10.3
10 posttransplant acute limbic encephalitis 10.2
11 47,xyy 10.1
12 cryptorchidism, unilateral or bilateral 10.1
13 spermatogenic failure, y-linked, 1 10.1
14 gonadoblastoma 10.1
15 dysphasia, familial developmental 10.1
16 spermatogenic failure 3 10.1
17 specific language impairment 10.1
18 oligoasthenoteratozoospermia 10.1
19 hypogonadotropic hypogonadism 10.1
20 hypospadias 10.1
21 gonadal dysgenesis 10.1
22 turner syndrome 10.1
23 spermatogenic failure 6 10.1
24 spermatogenic failure 4 10.1
25 spermatogenic failure 9 10.1
26 mixed gonadal dysgenesis 10.1
27 hypogonadism 10.1
28 oocyte maturation defect 1 9.9
29 oligospermia 9.9
30 cystic fibrosis 9.9
31 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.9
32 androgen insensitivity, partial 9.9
33 leukemia, chronic myeloid 9.9
34 disorders of sexual development 9.9
35 orchitis 9.9
36 testicular cancer 9.9
37 pseudohermaphroditism 9.9
38 46,xy partial gonadal dysgenesis 9.9
39 male infertility due to obstructive azoospermia 9.9

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 (showing 2, show less)
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 31 HP:0001939
2 azoospermia 31 HP:0000027

Drugs & Therapeutics for Y Chromosome Infertility

Interventional clinical trials:

(showing 2, show less)
# Name Status NCT ID Phase Drugs
1 Genetic Epidemiology of Ovarian Aging Active, not recruiting NCT00501800
2 Impact of Y-chromosome Microdeletions From Infertile Men on the Chromosomal Constitution of Their Spermatozoa and Embryos. Combined IntraCytoplasmatic Sperm Injection (ICSI) and Preimplantation Genetic Screening (PGS) as Treatment Strategy. Terminated 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:


Publications for Y Chromosome Infertility

Articles related to Y Chromosome Infertility:

(showing 42, show less)
# Title Authors PMID Year
Genetics of the human Y chromosome and its association with male infertility. 24
29454353 2018
Y Chromosome Microdeletions in Infertile Men with Non-obstructive Azoospermia and Severe Oligozoospermia. 24
29062795 2017
The Biology and Evolution of Mammalian Y Chromosomes. 24
26442847 2015
Microhomology-mediated microduplication in the y chromosomal azoospermia factor a region in a male with mild asthenozoospermia. 24
25765000 2014
Reproductive technologies and the risk of birth defects. 24
22559061 2012
HSFY genes and the P4 palindrome in the AZFb interval of the human Y chromosome are not required for spermatocyte maturation. 24
22158087 2012
Gene copy number reduction in the azoospermia factor c (AZFc) region and its effect on total motile sperm count. 24
21429917 2011
Aberrations in pseudoautosomal regions (PARs) found in infertile men with Y-chromosome microdeletions. 24
21252244 2011
What about gr/gr deletions and male infertility? Systematic review and meta-analysis. 24
20959348 2011
Isodicentric Y chromosomes and sex disorders as byproducts of homologous recombination that maintains palindromes. 24
19737515 2009
Spermatogenesis in a man with complete deletion of USP9Y. 24
19246359 2009
Partial AZFc deletions and duplications: clinical correlates in the Italian population. 24
18807255 2008
Molecular and clinical characterization of Y chromosome microdeletions in infertile men: a 10-year experience in Italy. 24
17213277 2007
The choice and outcome of the fertility treatment of 38 couples in whom the male partner has a Yq microdeletion. 24
15790609 2005
Azoospermia factor (AZF) in Yq11: towards a molecular understanding of its function for human male fertility and spermatogenesis. 24
15705299 2005
Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility. 24
15520406 2004
The AZFa gene DBY (DDX3Y) is widely transcribed but the protein is limited to the male germ cells by translation control. 24
15294876 2004
Report on evaluation of the azoospermic male. 24
15363709 2004
Molecular and evolutionary analysis of the growth-controlling region on the human Y chromosome. 24
14579146 2004
A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N. 24
14639527 2004
Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection. 24
14528305 2003
Duplications of the AZFa region of the human Y chromosome are mediated by homologous recombination between HERVs and are compatible with male fertility. 24
12554687 2003
Clinical relevance of partial AZFc deletions. 24
12477514 2002
The definition of the Y chromosome growth-control gene (GCY) critical region: relevance of terminal and interstitial deletions. 24
12510983 2002
Clinical characterization of 42 oligospermic or azoospermic men with microdeletion of the AZFc region of the Y chromosome, and of 18 children conceived via ICSI. 24
12407032 2002
Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure. 24
12297986 2002
Transmission of male infertility to future generations: lessons from the Y chromosome. 24
12078833 2002
The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. 24
11687796 2001
Intra-cytoplasmic sperm injection and infertility. 24
11586293 2001
High deletion frequency of the complete AZFa sequence in men with Sertoli-cell-only syndrome. 24
11574668 2001
The varicocele dilemma. 24
11212078 2001
Two long homologous retroviral sequence blocks in proximal Yq11 cause AZFa microdeletions as a result of intrachromosomal recombination events. 24
11030762 2000
The human Y chromosome genes BPY2, CDY1 and DAZ are not essential for sustained fertility. 24
10956550 2000
Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses. 24
11001932 2000
An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y. 24
10581029 1999
Y chromosome microdeletion in a father and his four infertile sons. 24
10548602 1999
Y chromosome deletions in azoospermic and severely oligozoospermic men undergoing intracytoplasmic sperm injection after testicular sperm extraction. 24
9886509 1998
Functional coherence of the human Y chromosome. 24
9381176 1997
Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. 24
7739684 1995
Iran's Contribution to Human Proteomic Research. 61
31210427 2019
Novel concepts in male infertility. 61
21385475 2011
Y Chromosome Infertility 61
20301513 2002

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

Cellular components related to Y Chromosome Infertility according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.36 USP9Y RBMY1A1 KDM5D HSFY1 DDX3Y DAZ3

Biological processes related to Y Chromosome Infertility according to GeneCards Suite gene sharing:

(showing 6, show less)
# Name GO ID Score Top Affiliating Genes
1 single fertilization GO:0007338 9.43 XKRY DAZ2 BPY2
2 negative regulation of nucleic acid-templated transcription GO:1903507 9.37 CDY2A CDY1
3 positive regulation of translational initiation GO:0045948 9.33 DAZ3 DAZ2 DAZ1
4 histone acetylation GO:0016573 9.32 CDY2A CDY1
5 spermatogenesis GO:0007283 9.17 USP9Y DAZ3 DAZ2 DAZ1 CDY2A CDY1
6 3'-UTR-mediated mRNA stabilization GO:0070935 9.13 DAZ3 DAZ2 DAZ1

Molecular functions related to Y Chromosome Infertility according to GeneCards Suite gene sharing:

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.73 RPS4Y2 RBMY1A1 DDX3Y DAZ3 DAZ2 DAZ1
2 mRNA 3'-UTR binding GO:0003730 9.33 DAZ3 DAZ2 DAZ1
3 histone acetyltransferase activity GO:0004402 9.32 CDY2A CDY1
4 mRNA binding GO:0003729 9.26 RBMY1A1 DAZ3 DAZ2 DAZ1
5 translation activator activity GO:0008494 8.8 DAZ3 DAZ2 DAZ1

Sources for Y Chromosome Infertility

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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