Y Chromosome Infertility disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

DAZ MCID: YCH001 MIFTS: 27	Y Chromosome Infertility (DAZ) Categories: Rare diseases, Reproductive diseases
Genes Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Y Chromosome Infertility

MalaCards integrated aliases for Y Chromosome Infertility:

Name: Y Chromosome Infertility ²⁴ ⁵³ ²⁵ ³⁸ ⁷²

Y Chromosome-Related Azoospermia ²⁴ ²⁵

Male Sterility Due to Y-Chromosome Deletions ⁵³

Spermatogenic Failure, Y-Linked ²⁵

Y Chromosome Microdeletions ⁵³

Deleted in Azoospermia ⁵³

Y Chromosome Deletions ⁷²

Daz ⁵³

Characteristics:

HPO:

³²

y chromosome infertility:
Inheritance y-linked inheritance

GeneReviews:

²⁴

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.

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Reproductive diseases

See all MalaCards categories (disease lists)

External Ids:

UMLS ⁷² C1507149 C3711648

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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 y chromosome-related azoospermia, is related to phelan-mcdermid syndrome and infertility. An important gene associated with Y Chromosome Infertility is DAZ1 (Deleted In Azoospermia 1). 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

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Related Diseases for Y Chromosome Infertility

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

(show all 45)

#	Related Disease	Score	Top Affiliating Genes
1	phelan-mcdermid syndrome	30.3	USP9Y RBMY1A1 DAZ1
2	infertility	29.9	USP9Y DDX3Y DAZ1
3	spermatogenic failure, x-linked, 1	29.9	USP9Y RBMY1A1 HSFY1 DDX3Y DAZ1
4	partial deletion of y	28.9	USP9Y RBMY1A1 DDX3Y DAZ3 DAZ2 DAZ1
5	male infertility	28.4	USP9Y RBMY1A1 DDX3Y DAZ3 DAZ2 DAZ1
6	azoospermia	28.3	USP9Y RBMY1A1 DDX3Y DAZ3 DAZ2 DAZ1
7	spermatogenic failure, y-linked, 2	22.4	XKRY VCY USP9Y RPS4Y2 RBMY1A1 PRY2
8	varicocele	10.4
9	47, xxy	10.3
10	chromophobe renal cell carcinoma	10.3
11	posttransplant acute limbic encephalitis	10.2
12	spermatogenic failure 6	10.1
13	cystic fibrosis	10.1
14	spermatogenic failure 4	10.1
15	spermatogenic failure 9	10.1
16	mixed gonadal dysgenesis	10.1
17	hypogonadism	10.1
18	hypogonadotropism	10.1
19	cryptorchidism, unilateral or bilateral	10.1
20	spermatogenic failure, y-linked, 1	10.1
21	gonadoblastoma	10.1
22	dysphasia, familial developmental	10.1
23	spermatogenic failure 3	10.1
24	specific language impairment	10.1
25	oligoasthenoteratozoospermia	10.1
26	hypogonadotropic hypogonadism	10.1
27	hypospadias	10.1
28	gonadal dysgenesis	10.1
29	turner syndrome	10.1
30	47,xyy	10.1
31	y chromosome pericentric inversion	10.1
32	oocyte maturation defect 1	9.9
33	oligospermia	9.9
34	multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly	9.9
35	androgen insensitivity, partial	9.9
36	46 xy gonadal dysgenesis	9.9
37	sex development disorder	9.9
38	orchitis	9.9
39	testicular cancer	9.9
40	pseudohermaphroditism	9.9
41	myeloid leukemia	9.9
42	46,xy partial gonadal dysgenesis	9.9
43	male infertility due to obstructive azoospermia	9.9
44	enhanced s-cone syndrome	9.9
45	premature ovarian failure 1	9.9

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

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Symptoms & Phenotypes for Y Chromosome Infertility

Human phenotypes related to Y Chromosome Infertility:

³²

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

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Drugs & Therapeutics for Y Chromosome Infertility

Interventional clinical trials:

#	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

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Genetic Tests for Y Chromosome Infertility

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Anatomical Context for Y Chromosome Infertility

MalaCards organs/tissues related to Y Chromosome Infertility:

⁴¹

Testes

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Publications for Y Chromosome Infertility

Articles related to Y Chromosome Infertility:

(show all 42)

#	Title	Authors	PMID	Year
1	Genetics of the human Y chromosome and its association with male infertility. ⁴	Colaco S...Modi D	29454353	2018
2	Y Chromosome Microdeletions in Infertile Men with Non-obstructive Azoospermia and Severe Oligozoospermia. ⁴	Kim SY...Seo JT	29062795	2017
3	The Biology and Evolution of Mammalian Y Chromosomes. ⁴	Hughes JF...Page DC	26442847	2015
4	Microhomology-mediated microduplication in the y chromosomal azoospermia factor a region in a male with mild asthenozoospermia. ⁴	Katsumi M...Miyado M	25765000	2014
5	Reproductive technologies and the risk of birth defects. ⁴	Davies MJ...Chan A	22559061	2012
6	HSFY genes and the P4 palindrome in the AZFb interval of the human Y chromosome are not required for spermatocyte maturation. ⁴	Kichine E...Mitchell MJ	22158087	2012
7	Gene copy number reduction in the azoospermia factor c (AZFc) region and its effect on total motile sperm count. ⁴	Noordam MJ...Repping S	21429917	2011
8	Aberrations in pseudoautosomal regions (PARs) found in infertile men with Y-chromosome microdeletions. ⁴	Jorgez CJ...Lamb DJ	21252244	2011
9	What about gr/gr deletions and male infertility? Systematic review and meta-analysis. ⁴	Stouffs K...Haentjens P	20959348	2011
10	Isodicentric Y chromosomes and sex disorders as byproducts of homologous recombination that maintains palindromes. ⁴	Lange J...Page DC	19737515	2009
11	Spermatogenesis in a man with complete deletion of USP9Y. ⁴	Luddi A...Piomboni P	19246359	2009
12	Partial AZFc deletions and duplications: clinical correlates in the Italian population. ⁴	Giachini C...Krausz C	18807255	2008
13	Molecular and clinical characterization of Y chromosome microdeletions in infertile men: a 10-year experience in Italy. ⁴	Ferlin A...Foresta C	17213277	2007
14	The choice and outcome of the fertility treatment of 38 couples in whom the male partner has a Yq microdeletion. ⁴	Stouffs K...Liebaers I	15790609	2005
15	Azoospermia factor (AZF) in Yq11: towards a molecular understanding of its function for human male fertility and spermatogenesis. ⁴	Vogt PH	15705299	2005
16	Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility. ⁴	Machev N...Mitchell MJ	15520406	2004
17	The AZFa gene DBY (DDX3Y) is widely transcribed but the protein is limited to the male germ cells by translation control. ⁴	Ditton HJ...Vogt PH	15294876	2004
18	Report on evaluation of the azoospermic male. ⁴	Male Infertility Best Practice Policy Committee of the American Urological Association...Practice Committee of the American Society for Reproductive Medicine	15363709	2004
19	Molecular and evolutionary analysis of the growth-controlling region on the human Y chromosome. ⁴	Kirsch S...Rappold G	14579146	2004
20	A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N. ⁴	Fernandes S...Vogt PH	14639527	2004
21	Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection. ⁴	Repping S...Rozen S	14528305	2003
22	Duplications of the AZFa region of the human Y chromosome are mediated by homologous recombination between HERVs and are compatible with male fertility. ⁴	Bosch E...Jobling MA	12554687	2003
23	Clinical relevance of partial AZFc deletions. ⁴	de Vries JW...van der Veen F	12477514	2002
24	The definition of the Y chromosome growth-control gene (GCY) critical region: relevance of terminal and interstitial deletions. ⁴	Kirsch S...Rappold GA	12510983	2002
25	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. ⁴	Oates RD...Page DC	12407032	2002
26	Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure. ⁴	Repping S...Rozen S	12297986	2002
27	Transmission of male infertility to future generations: lessons from the Y chromosome. ⁴	Silber SJ...Repping S	12078833	2002
28	The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. ⁴	Kuroda-Kawaguchi T...Page DC	11687796	2001
29	High deletion frequency of the complete AZFa sequence in men with Sertoli-cell-only syndrome. ⁴	Kamp C...Vogt PH	11574668	2001
30	Intra-cytoplasmic sperm injection and infertility. ⁴	Faddy MJ...Gosden RG	11586293	2001
31	The varicocele dilemma. ⁴	Silber SJ	11212078	2001
32	Two long homologous retroviral sequence blocks in proximal Yq11 cause AZFa microdeletions as a result of intrachromosomal recombination events. ⁴	Kamp C...Vogt PH	11030762	2000
33	Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses. ⁴	Sun C...Page DC	11001932	2000
34	The human Y chromosome genes BPY2, CDY1 and DAZ are not essential for sustained fertility. ⁴	Saut N...Mitchell MJ	10956550	2000
35	An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y. ⁴	Sun C...Page DC	10581029	1999
36	Y chromosome microdeletion in a father and his four infertile sons. ⁴	Chang PL...Brown S	10548602	1999
37	Y chromosome deletions in azoospermic and severely oligozoospermic men undergoing intracytoplasmic sperm injection after testicular sperm extraction. ⁴	Silber SJ...Page DC	9886509	1998
38	Functional coherence of the human Y chromosome. ⁴	Lahn BT...Page DC	9381176	1997
39	Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. ⁴	Chillon M...Claustres M	7739684	1995
40	Iran's Contribution to Human Proteomic Research. ³⁸	Meyfour A...Pahlavan S	31210427	2019
41	Novel concepts in male infertility. ³⁸	Esteves SC...Agarwal A	21385475	2011
42	Y Chromosome Infertility ³⁸	Fan Y...Silber SJ	20301513	2002

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Genes for Y Chromosome Infertility

Genes related to Y Chromosome Infertility (0 elite genes):

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	DAZ1	Deleted In Azoospermia 1	Protein Coding	16.7	GeneCards inferred via : Publications (show sections)
2	DAZ2	Deleted In Azoospermia 2	Protein Coding	16.7	GeneCards inferred via : Publications (show sections)
3	DDX3Y	DEAD-Box Helicase 3 Y-Linked	Protein Coding	16.7	GeneCards inferred via : Publications (show sections)
4	HSFY1	Heat Shock Transcription Factor Y-Linked 1	Protein Coding	16.7	GeneCards inferred via : Publications (show sections)
5	RBMY1A1	RNA Binding Motif Protein Y-Linked Family 1 Member A1	Protein Coding	16.7	GeneCards inferred via : Publications (show sections)
6	USP9Y	Ubiquitin Specific Peptidase 9 Y-Linked	Protein Coding	16.7	GeneCards inferred via : Publications (show sections)
7	BPY2	Basic Charge Y-Linked 2	Protein Coding	6.7	GeneCards inferred via : Publications (show sections)
8	CDY1	Chromodomain Y-Linked 1	Protein Coding	6.7	GeneCards inferred via : Publications (show sections)
9	CDY2A	Chromodomain Y-Linked 2A	Protein Coding	6.7	GeneCards inferred via : Publications (show sections)
10	DAZ3	Deleted In Azoospermia 3	Protein Coding	6.7	GeneCards inferred via : Publications (show sections)
11	KDM5D	Lysine Demethylase 5D	Protein Coding	6.7	GeneCards inferred via : Publications (show sections)
12	PRY	PTPN13 Like Y-Linked	Protein Coding	6.7	GeneCards inferred via : Publications (show sections)
13	PRY2	PTPN13 Like Y-Linked 2	Protein Coding	6.7	GeneCards inferred via : Publications (show sections)
14	RPS4Y2	Ribosomal Protein S4 Y-Linked 2	Protein Coding	6.7	GeneCards inferred via : Publications (show sections)
15	VCY	Variable Charge Y-Linked	Protein Coding	6.7	GeneCards inferred via : Publications (show sections)
16	XKRY	XK Related, Y-Linked	Protein Coding	6.7	GeneCards inferred via : Publications (show sections)

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Variations for Y Chromosome Infertility

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Expression for Y Chromosome Infertility

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

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Pathways for Y Chromosome Infertility

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GO Terms for Y Chromosome Infertility

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

#	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	germ cell development	GO:0007281	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	positive regulation of translational initiation	GO:0045948	9.13	DAZ3 DAZ2 DAZ1

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

#	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	methylated histone binding	GO:0035064	9.07	CDY1
6	translation activator activity	GO:0008494	8.8	DAZ3 DAZ2 DAZ1

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Sources for Y Chromosome Infertility

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

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⁹ Cosmic

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¹⁶ DrugBank

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¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia

Y Chromosome Infertility (DAZ)

Aliases & Classifications for Y Chromosome Infertility

MalaCards integrated aliases for Y Chromosome Infertility:

Characteristics:

HPO:

GeneReviews:

Classifications:

External Ids:

Summaries for Y Chromosome Infertility

Related Diseases for Y Chromosome Infertility

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

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

Symptoms & Phenotypes for Y Chromosome Infertility

Human phenotypes related to Y Chromosome Infertility:

Drugs & Therapeutics for Y Chromosome Infertility

Interventional clinical trials:

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:

Genes for Y Chromosome Infertility

Genes related to Y Chromosome Infertility (0 elite genes):

Variations for Y Chromosome Infertility

Expression for Y Chromosome Infertility

Pathways for Y Chromosome Infertility

GO Terms for Y Chromosome Infertility

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

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

Sources for Y Chromosome Infertility