DAZ
MCID: YCH001
MIFTS: 29

Y Chromosome Infertility (DAZ) malady

Categories: Rare diseases, Genetic diseases, Reproductive diseases

Aliases & Classifications for Y Chromosome Infertility

Aliases & Descriptions for Y Chromosome Infertility:

Name: Y Chromosome Infertility 23 50 24 25 38 69
Y Chromosome-Related Azoospermia 23 24 25
Deleted in Azoospermia 50 13
Y Chromosome Deletion 24 29
Oligozoospermia 24 52
Male Sterility Due to Y-Chromosome Deletions 50
Spermatogenic Failure Y-Linked 2 24
Spermatogenic Failure, Y-Linked 25
Y Chromosome Microdeletions 50
Y Chromosome Deletions 69
Oligospermia 69
Daz 50

Characteristics:

GeneReviews:

23
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:



Summaries for Y Chromosome Infertility

NIH Rare Diseases : 50 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 partial deletion of y, and has symptoms including abnormality of metabolism/homeostasis and azoospermia. An important gene associated with Y Chromosome Infertility is USP9Y (Ubiquitin Specific Peptidase 9, Y-Linked), and among its related pathways/superpathways is Translational Control. The drugs Isotretinoin and Calcitriol have been mentioned in the context of this disorder.

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

GeneReviews: NBK1339

Related Diseases for Y Chromosome Infertility

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

Drugs & Therapeutics for Y Chromosome Infertility

Drugs for Y Chromosome Infertility (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
id 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
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 5538
4 Calcium, Dietary Phase 2
5 vitamin d 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 Micronutrients Phase 2
13 Bone Density Conservation Agents Phase 2
14 Estrogens

Interventional clinical trials:


id Name Status NCT ID Phase
1 Preimplantation Genetic Diagnosis for the Indication of Advanced Reproductive Age Suspended NCT00646893 Phase 4
2 RA-2 13-cis Retinoic Acid (Isotretinoin) Active, not recruiting NCT02061384 Phase 2
3 X-chromosome Inactivation, Epigenetics and the Transcriptome Completed NCT01678261
4 Genetic Studies Spermatogenic Failure Completed NCT00548977
5 Relationship Between Sperm Head Vacuoles and Sperm DNA Alterations in Infertile Men Completed NCT02006446
6 The Clinical Study of Sex Chromosome Variants Recruiting NCT01661010
7 Effect of Trophectoderm Biopsy for Sex Selection on the Pregnancy and Miscarriage Rates of Women Undergoing IVF/ICSI Recruiting NCT02412605
8 Aneuploidies in Embryos and Spermatozoa From Patients With Y-chromosome Microdeletions Active, not recruiting NCT02527954
9 The Value of Prenatal Ultrasound in Complicated Twin Pregnancy and Its Correlation With Chromosomal Anomalies Not yet recruiting NCT02732717

Search NIH Clinical Center for Y Chromosome Infertility

Genetic Tests for Y Chromosome Infertility

Genetic tests related to Y Chromosome Infertility:

id Genetic test Affiliating Genes
1 Y Chromosome Deletions 29
2 Y Chromosome Infertility 24 USP9Y

Anatomical Context for Y Chromosome Infertility

Publications for Y Chromosome Infertility

Articles related to Y Chromosome Infertility:

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

Variations for Y Chromosome Infertility

ClinVar genetic disease variations for Y Chromosome Infertility:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 USP9Y USP9Y, IVS7DS, 4-BP DEL deletion Pathogenic

Copy number variations for Y Chromosome Infertility from CNVD:

7 (show top 50) (show all 56)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 46681 10 84138134 84171245 Deletion NRG3 Oligozoospermia
2 47682 10 96497202 96536412 Deletion CYP2C19 Oligozoospermia
3 69597 12 55866674 55896055 Duplication LRP1 Oligozoospermia
4 69598 12 55866674 55896055 Duplication MIR1228 Oligozoospermia
5 73682 12 9528390 9610254 Deletion Oligozoospermia
6 73684 12 9528390 9610254 Duplication Oligozoospermia
7 82423 14 105602402 105630289 Deletion Oligozoospermia
8 82425 14 105602402 105630289 Duplication Oligozoospermia
9 83074 14 19268576 19490830 Deletion OR4K1 Oligozoospermia
10 83076 14 19268576 19490830 Deletion OR4K2 Oligozoospermia
11 83078 14 19268576 19490830 Deletion OR4K5 Oligozoospermia
12 83080 14 19268576 19490830 Deletion OR4M1 Oligozoospermia
13 83082 14 19268576 19490830 Deletion OR4N2 Oligozoospermia
14 83084 14 19268576 19490830 Deletion OR4Q3 Oligozoospermia
15 104107 16 66942648 66967713 Duplication PRMT7 Oligozoospermia
16 104108 16 66942648 66967713 Duplication SMPD3 Oligozoospermia
17 109939 17 30624580 30787596 Deletion SLFN11 Oligozoospermia
18 109940 17 30624580 30787596 Deletion SLFN12 Oligozoospermia
19 109941 17 30624580 30787596 Deletion SLFN13 Oligozoospermia
20 112919 17 41521344 41566740 Duplication KIAA1267 Oligozoospermia
21 149570 2 89635198 89902565 Deletion Oligozoospermia
22 179365 3 89476719 89499633 Deletion EPHA3 Oligozoospermia
23 188864 4 69069451 69166014 Deletion UGT2B17 Oligozoospermia
24 190044 4 8235974 8261720 Duplication SH3TC1 Oligozoospermia
25 211919 6 35143115 35184210 Duplication ANKS1A Oligozoospermia
26 220816 7 141413152 141438704 Deletion MGAM Oligozoospermia
27 257375 X 102134796 102496321 Duplication BEX1 Oligozoospermia
28 257376 X 102134796 102496321 Duplication BEX2 Oligozoospermia
29 257377 X 102134796 102496321 Duplication BEX4 Oligozoospermia
30 257378 X 102134796 102496321 Duplication NXF3 Oligozoospermia
31 257379 X 102134796 102496321 Duplication TCEAL5 Oligozoospermia
32 257380 X 102134796 102496321 Duplication TCEAL7 Oligozoospermia
33 257381 X 102134796 102496321 Duplication TCEAL8 Oligozoospermia
34 257458 X 103066101 103190187 Duplication H2BFM Oligozoospermia
35 257459 X 103066101 103190187 Duplication H2BFWT Oligozoospermia
36 257460 X 103066101 103190187 Duplication H2BFXP Oligozoospermia
37 257461 X 103066101 103190187 Duplication TMSB15B Oligozoospermia
38 257559 X 105010614 105561054 Duplication MUM1L1 Oligozoospermia
39 257560 X 105010614 105561054 Duplication NRK Oligozoospermia
40 257561 X 105010614 105561054 Duplication SERPINA7 Oligozoospermia
41 257812 X 110238448 110260226 Duplication PAK3 Oligozoospermia
42 257885 X 111598447 111621531 Deletion Oligozoospermia
43 258655 X 123911267 124039708 Deletion ODZ1 Oligozoospermia
44 259284 X 134120502 134157976 Duplication CXorf48 Oligozoospermia
45 259659 X 139706586 139904507 Duplication MIR320D2 Oligozoospermia
46 261080 X 154044877 154079019 Deletion Oligozoospermia
47 261970 X 28162190 28214748 Duplication Oligozoospermia
48 262671 X 38376283 38513841 Duplication TSPAN7 Oligozoospermia
49 263709 X 52657689 52978139 Duplication FAM156A Oligozoospermia
50 263710 X 52657689 52978139 Duplication SPANXN5 Oligozoospermia

Expression for Y Chromosome Infertility

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

Pathways for Y Chromosome Infertility

Pathways related to Y Chromosome Infertility according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.9 DAZ1 DAZL

GO Terms for Y Chromosome Infertility

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

id Name GO ID Score Top Affiliating Genes
1 spermatogenesis GO:0007283 9.13 DAZ1 DAZL USP9Y
2 positive regulation of translational initiation GO:0045948 8.62 DAZ1 DAZL

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

id Name GO ID Score Top Affiliating Genes
1 nucleic acid binding GO:0003676 9.13 DAZ1 DAZL DDX3Y
2 translation activator activity GO:0008494 8.62 DAZ1 DAZL

Sources for Y Chromosome Infertility

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
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65 SNOMED-CT via Orphanet
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68 Tocris
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70 UMLS via Orphanet
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