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MCID: MLN007
MIFTS: 52

Male Infertility

Categories: Reproductive diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Male Infertility

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MalaCards integrated aliases for Male Infertility:

Name: Male Infertility 38 12 29 6 43 15 73
Infertility, Male 44 40
Infertility Male 55

Classifications:

MalaCards categories:
Anatomical: Reproductive diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

Disease Ontology 12 DOID:12336
ICD10 33 N46 N46.9
ICD9CM 35 606 606.9
MeSH 44 D007248
SNOMED-CT 68 2904007
UMLS 73 C0021364
Sources

Summaries for Male Infertility

About this section
MedlinePlus : 43 Infertility is a term doctors use if a man hasn't been able to get a woman pregnant after at least one year of trying. Causes of male infertility include Physical problems with the testicles Blockages in the ducts that carry sperm Hormone problems A history of high fevers or mumps Genetic disorders Lifestyle or environmental factors About a third of the time, infertility is because of a problem with the man. One third of the time, it is a problem with the woman. Sometimes no cause can be found. If you suspect you are infertile, see your doctor. There are tests that may tell if you have fertility problems. When it is possible to find the cause, treatments may include medicines, surgery, or assisted reproductive technology. Happily, many couples treated for infertility are able to have babies. NIH: National Institute of Child Health and Human Development

MalaCards based summary : Male Infertility, also known as infertility, male, is related to catsper-related male infertility and oligoasthenoteratozoospermia, and has symptoms including subfertility, male, inability to conceive due to male infertility and inability to impregnate. An important gene associated with Male Infertility is CLDN2 (Claudin 2). The drugs Metformin and leucovorin have been mentioned in the context of this disorder. Affiliated tissues include Testis and Testis, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 76 Male infertility refers to a male''s inability to cause pregnancy in a fertile female. In humans it... more...

Sources

Related Diseases for Male Infertility

About this section

Diseases in the Male Infertility family:

Catsper-Related Male Infertility Catsper1-Related Nonsyndromic Male Infertility

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

(show top 50) (show all 148)
# Related Disease Score Top Affiliating Genes
1 catsper-related male infertility 33.8 CATSPER1 CATSPER2
2 oligoasthenoteratozoospermia 32.4 AR CATSPER1 DAZL
3 spermatogenic failure, x-linked, 1 32.3 DAZ1 DAZ4 DAZL DDX3Y USP26 USP9Y
4 oligospermia 32.0 AR CFTR DAZ1 DAZ4
5 azoospermia 31.9 AR BOLL DAZ1 DAZ2 DAZ3 DAZ4
6 spermatogenic failure, y-linked, 2 31.7 BPY2 DAZ1 DAZ2 DAZ3 DAZ4 DDX3Y
7 infertility 31.6 CATSPER1 CATSPER2 DAZ1 DAZ4 DAZL DDX3Y
8 catsper1-related nonsyndromic male infertility 12.5
9 male infertility with teratozoospermia due to single gene mutation 12.4
10 non-syndromic male infertility due to sperm motility disorder 12.4
11 rare idiopathic male infertility 12.4
12 spermatogenic failure 5 12.2
13 spermatogenic failure 6 12.2
14 male infertility with spermatogenesis disorder 12.2
15 male infertility with spermatogenesis disorder due to single gene mutation 12.2
16 macrozoospermia 12.1
17 deafness-infertility syndrome 12.0
18 spermatogenic failure 7 11.9
19 spermatogenic failure 17 11.9
20 spermatogenic failure, x-linked, 2 11.4
21 deafness, autosomal recessive 32, with or without immotile sperm 11.4
22 cystic fibrosis 11.3
23 young syndrome 11.1
24 spermatogenic failure 9 11.1
25 spermatogenic failure 13 11.1
26 spermatogenic failure 16 11.1
27 spermatogenic failure 18 11.1
28 spermatogenic failure 21 11.1
29 spermatogenic failure 2 10.9
30 spermatogenic failure 1 10.9
31 spermatogenic failure, y-linked, 1 10.9
32 spermatogenic failure 3 10.9
33 spermatogenic failure 8 10.9
34 spermatogenic failure 10 10.9
35 ciliary dyskinesia, primary, 18 10.9
36 spermatogenic failure 11 10.9
37 spermatogenic failure 12 10.9
38 ciliary dyskinesia, primary, 22 10.9
39 spermatogenic failure 14 10.9
40 glucocorticoid resistance, generalized 10.9
41 ciliary dyskinesia, primary, 34 10.9
42 spermatogenic failure 19 10.9
43 spermatogenic failure 20 10.9
44 spermatogenic failure 30 10.9
45 spermatogenic failure 31 10.9
46 spermatogenic failure 32 10.9
47 mthfr gene variant 10.9
48 varicocele 10.4
49 chlamydia 10.2
50 hypogonadotropic hypogonadism 10.2

Graphical network of the top 20 diseases related to Male Infertility:



Diseases related to Male Infertility
Sources

Symptoms & Phenotypes for Male Infertility

About this section

UMLS symptoms related to Male Infertility:


subfertility, male, inability to conceive due to male infertility, inability to impregnate

GenomeRNAi Phenotypes related to Male Infertility according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.58 BPY2 BPY2B BPY2C
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.58 BPY2 BPY2B BPY2C
3 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.58 BPY2 BPY2B BPY2C
4 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.58 BPY2 BPY2B BPY2C
5 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.58 BPY2 BPY2B BPY2C
6 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.58 BPY2 BPY2B BPY2C
Sources

Drugs & Therapeutics for Male Infertility

About this section

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

(show top 50) (show all 212)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4 657-24-9 14219 4091
2
leucovorin Approved Phase 4,Phase 3,Phase 2,Not Applicable 58-05-9 6006 143
3
Tocopherol Approved, Investigational Phase 4,Phase 2,Not Applicable,Early Phase 1 1406-66-2 14986
4
Zinc Approved, Investigational Phase 4,Phase 2,Not Applicable 7440-66-6
5
Selenium Approved, Investigational, Vet_approved Phase 4,Phase 2,Not Applicable 7782-49-2
6
Hydroxocobalamin Approved Phase 4,Not Applicable 13422-51-0 11953898 44475014
7
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
8
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 59-30-3 6037
9
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 77-92-9 311
10
Vitamin C Approved, Nutraceutical Phase 4,Phase 2,Not Applicable,Early Phase 1 50-81-7 5785 54670067
11
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Not Applicable,Early Phase 1 59-02-9 14985
12
Cyanocobalamin Approved, Nutraceutical Phase 4,Not Applicable 68-19-9 44176380
13
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 4,Not Applicable 303-98-0 5281915
14
Ginseng Approved, Investigational, Nutraceutical Phase 4 50647-08-0
15
Enclomiphene Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 15690-57-0
16
Cobalamin Experimental Phase 4,Not Applicable 13408-78-1 6438156
17 Tocotrienol Investigational Phase 4,Phase 2,Not Applicable,Early Phase 1 6829-55-6
18 Antioxidants Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
19 Central Nervous System Depressants Phase 4,Phase 2,Not Applicable
20 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
21 Vitamin B Complex Phase 4,Phase 3,Phase 2,Not Applicable
22 Trace Elements Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
23 Vitamins Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
24 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
25 Micronutrients Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
26 Vitamin B9 Phase 4,Phase 3,Phase 2,Not Applicable
27 Folate Phase 4,Phase 3,Phase 2,Not Applicable
28 Follicle Stimulating Hormone Phase 4,Phase 3,Phase 2,Not Applicable
29 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
30 Protective Agents Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
31 Estrogen Receptor Modulators Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
32 Estrogens Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
33 Calcium, Dietary Phase 4,Phase 2,Phase 3,Not Applicable
34 Anticoagulants Phase 4,Phase 2,Phase 3,Not Applicable
35 Fertility Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
36 insulin Phase 4
37 Citrate Phase 4,Phase 2,Phase 3,Not Applicable
38 Selective Estrogen Receptor Modulators Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
39 Insulin, Globin Zinc Phase 4
40 Chelating Agents Phase 4,Phase 2,Phase 3,Not Applicable
41 Estrogen Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
42 Clomiphene Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
43 Estrogen Receptor Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
44 Chorionic Gonadotropin Phase 4,Phase 2,Not Applicable
45 Hypoglycemic Agents Phase 4
46 Zuclomiphene Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
47 Hematinics Phase 4,Phase 3,Not Applicable
48 Vitamin B12 Phase 4,Not Applicable
49 carnitine Phase 4,Phase 2,Not Applicable
50 Tocotrienols Phase 4,Phase 2,Not Applicable,Early Phase 1

Interventional clinical trials:

(show top 50) (show all 126)
# Name Status NCT ID Phase Drugs
1 Correlation Among Sperm DNA Fragmentation, Genitourinary Infection by Mycoplasma in Male and the Pregnancy Outcomes After IUI in Their Partner Unknown status NCT01555047 Phase 4
2 Ovarian Stimulation: Inositol and Melatonin Unknown status NCT01267604 Phase 4 Recombinant FSH (rFSH)
3 Role of FSHR Polymorphism p.N680S in the Therapy With FSH in Patients Who Underwent Varicocele Surgery Unknown status NCT02719093 Phase 4 recombinant FSH
4 Metformin for the Treatment of Unexplained Oligozspermia Unknown status NCT01529177 Phase 4 Metformin / clomid / hCG;Clomiphene citrate / hCG
5 Effects of Korean Red Ginseng on Semen Parameters in Male Infertility Patients: a Randomized, Placebo-controlled, Double-blind Clinical Study Completed NCT02204826 Phase 4 Korean Red Ginseng (KRG)
6 Effects of Korean Red Ginseng on Male Infertility Completed NCT02202382 Phase 4 Korean Red Ginseng, Varicocelectomy;Placebo
7 Severe LH Suppressed Patients After Administration of a GnRH Antagonist Completed NCT01936077 Phase 4 Recombinant LH (Luveris)
8 Comparison of Outcomes of Two Approaches in Microsurgical Varicocelectomy in Chinese Infertile Males: A Prospective Randomized, Controlled Trial Completed NCT01463787 Phase 4
9 Effect of Treatment With Myo-inositol on Human Semen Parameters in Patients Undergoing In Vitro Fertilization Cycles Completed NCT01560065 Phase 4
10 Oxidative Stress In Semen And Male Infertility Recruiting NCT03464656 Phase 4 Fairhaven Pro for men
11 Post-operative Pain Control of Testicular Sperm Extraction Using Liposomal Bupivacaine Not yet recruiting NCT03802864 Phase 4 Liposomal Bupivacaine;Standard Bupivacaine
12 Anti-oxidative Influence From Pomegranate Tablets on Male Sperm Quality in Couples Undergo Infertility Treatments Due to Male Infertility. Unknown status NCT01918163 Phase 3
13 The Effect of Combination of Red and White Bahman Retrieved of Iranian Traditional Medicine on Semen Parameters in Idiopathic Oligospermic Men Unknown status NCT02998593 Phase 3 Bahman capsules;Placebo
14 FSH Treatment for Non-obstructive Azoospermic Patients Unknown status NCT02275169 Phase 3 Urofollitropin
15 Spermotrend in the Treatment of Male Infertility Completed NCT00975117 Phase 3
16 Impact of Folates in the Care of the Male Infertility Completed NCT01407432 Phase 3 Folic acid;placebo of folic acid
17 Vitamin D Supplementation and Male Infertility: The CBG-study a Randomized Clinical Trial Completed NCT01304927 Phase 2, Phase 3 Cholecalciferol and calcium
18 FSH Receptor Polymorphism p.N680S and Efficacy of FSH Therapy Completed NCT02349945 Phase 2, Phase 3 follitropin alpha
19 Menevit Study: Menevit Anti-Oxidant Therapy for the Treatment of Male Infertility Completed NCT00100269 Phase 3 Menevit anti-oxidant
20 Herbal Tonic Fertile Supplement(ZO2C5) Completed NCT01895816 Phase 3
21 Effect of Letrozole on Seminal Parameters in Men With Non Obstructive Azoospermia and Severe Oligozoospermia. Completed NCT02900105 Phase 3 Letrozole
22 Combination Chemotherapy in Treating Young Patients With Hodgkin's Lymphoma Completed NCT00433459 Phase 3 cyclophosphamide;dacarbazine;prednisolone;prednisone;procarbazine hydrochloride;vincristine sulfate
23 Single Dose Intravesical Apaziquone Postoperative in Patients Undergoing TURBT for Noninvasive Bladder Cancer (SPI-612) Completed NCT00598806 Phase 3 Apaziquone;Placebo
24 Effect of Walnuts on Sperm Parameters and Male Fertility Recruiting NCT01954498 Phase 2, Phase 3
25 Pilot Study on the Effects of FSH Treatment on the Epigenetic Characteristics of Spermatozoa in Infertile Patients With Severe Oligozoospermia Terminated NCT02605070 Phase 3 Bravelle
26 Aromatase Inhibitors in the Treatment of Male Infertility Terminated NCT00440180 Phase 3 Anastrozole;Placebo
27 Efficacy and Safety of Multi-Instillations of Apaziquone in Patients With Non-Muscle Invasive Bladder Cancer Terminated NCT01410565 Phase 3 Apaziquone;Placebo
28 Androxal in Male Infertility Withdrawn NCT02160704 Phase 2, Phase 3 Enclomiphene citrate
29 MSCs For Treatment of Azoospermic Patients Unknown status NCT02025270 Phase 1, Phase 2
30 GnRHa Combined With hCG and hMG for Treatment of Patients With Non-obstructive Azoospermia Unknown status NCT02544191 Phase 2 GnRHa/ hCG/ hMG
31 Testicular Injection of Autologous Stem Cells for Treatment of Patients With Azoospermia Unknown status NCT02041910 Phase 1, Phase 2
32 Males, Antioxidants, and Infertility Trial Completed NCT02421887 Phase 2 Antioxidant Supplement
33 Clomiphene Citrate for the Treatment of Low Testosterone Associated With Chronic Opioid Pain Medication Administration Completed NCT01880086 Phase 2 Clomiphene citrate;Placebo
34 The Effect and Safety of Lisinopril in Non-hypertensive Men With Infertility From Low Sperm Count Completed NCT01409837 Phase 2 Lisinopril
35 Denosumab and Male Infertility: a RCT Recruiting NCT03030196 Phase 2 Denosumab
36 Intra-Testicular Transplantation of Autologous Stem Cells for Treatment of Non-Obstructive Azoospermia Male Infertility. Recruiting NCT02641769 Phase 1, Phase 2
37 RA-4: 13-cis Retinoic Acid for Treatment of Men With Azoospermia Recruiting NCT03323801 Phase 2 13-cis retinoic acid
38 TNFSF11 Inhibition and Fertility: a Prospective Study Active, not recruiting NCT02422108 Phase 2 Denosumab
39 RA-2 13-cis Retinoic Acid (Isotretinoin) Active, not recruiting NCT02061384 Phase 2 13-cis retinoic acid;Calcitriol
40 Autologous Adipose-Derived Adult Stromal Vascular Cell Administration for Male Patients With Infertility Enrolling by invitation NCT03762967 Phase 2 Standard therapy.
41 Influence of Culture Media on Clinical Outcomes in Poor Responders or Severe Male Infertility Unknown status NCT02575924 Phase 1 sequential medium;1-step medium
42 A Pilot Study to Evaluate the Effect of Pomegranate Juice on Semen Parameters in Healthy Male Volunteers Completed NCT01595308 Phase 1
43 Choline Dehydrogenase and Sperm Function: Effects of Betaine Completed NCT02122211 Phase 1 Betaine supplement
44 Administration of Clomiphene: Short and Long Term Metabolism in an Anti-Doping Setting Active, not recruiting NCT03028532 Phase 1 Clomid
45 Proposed Research Protocol For Male Infertility Unknown status NCT01255397 Not Applicable
46 Oxidative Stress and Lipidomics in Male Infertility Unknown status NCT02062229
47 Modern Analyses of the Semen in Evaluating Male Fertility and Treatment Options of Male Infertility Unknown status NCT02932865
48 Is a Carnitine Based Food Supplement (PorimoreTM) for Infertile Men Superior to Folate and Zinc With Regard to Pregnancy Rates in Intrauterine Insemination Cycles? Unknown status NCT01075334 Not Applicable
49 Study of Sperm Molecular Factors Implicated in Male Fertility Unknown status NCT00481403
50 A Clinical Evaluation of Semen Quality Using the MiOXSYSâ„¢ System 2.0 Unknown status NCT02839447

Search NIH Clinical Center for Male Infertility

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: infertility, male

Sources

Genetic Tests for Male Infertility

About this section

Genetic tests related to Male Infertility:

# Genetic test Affiliating Genes
1 Male Infertility 29
Sources

Anatomical Context for Male Infertility

About this section

MalaCards organs/tissues related to Male Infertility:

41
Testes, Testis, Prostate, Liver, Bone, Spinal Cord, Kidney
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Male Infertility:
# Tissue Anatomical CompartmentCell Relevance
1 Testis Seminiferous Tubules Elongated Spermatid Affected by disease
2 Testis Seminiferous Tubules Spermatid Affected by disease
3 Testis Seminiferous Tubules Spermatozoan Affected by disease
Sources

Publications for Male Infertility

About this section

Articles related to Male Infertility:

(show top 50) (show all 1439)
# Title Authors Year
1
Possible Mechanisms for The Effects of Calcium Deficiency on Male Infertility. ( 30291684 )
2019
2
MTHFR polymorphisms as risk for male infertility in Pakistan and its comparison with socioeconomic status in the world. ( 30468411 )
2019
3
Nationwide survey of urological specialists regarding male infertility: results from a 2015 questionnaire in Japan. ( 29371820 )
2018
4
Sirtuins in gamete biology and reproductive physiology: emerging roles and therapeutic potential in female and male infertility. ( 29447380 )
2018
5
Changes in practice patterns in male infertility cases in the United States: the trend toward subspecialization. ( 29980267 )
2018
6
Role of Withania somnifera (Ashwagandha) in the management of male infertility. ( 29277366 )
2018
7
Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human. ( 29449551 )
2018
8
IL-1E9 C376A Transversion Variant and Risk of Idiopathic Male Infertility in Iranian Men: A Genetic Association Study. ( 29935069 )
2018
9
Point-of-care whole-exome sequencing of idiopathic male infertility. ( 29790874 )
2018
10
Deletion of DDB1- and CUL4- associated factor-17 (Dcaf17) gene causes spermatogenesis defects and male infertility in mice. ( 29907856 )
2018
11
Association of asymptomatic Chlamydia trachomatis infection with male infertility and the effect of antibiotic therapy in improvement of semen quality in infected infertile men. ( 29292525 )
2018
12
Application of induced pluripotent stem cell and embryonic stem cell technology to the study of male infertility. ( 29870061 )
2018
13
A homozygous FANCM frameshift pathogenic variant causes male infertility. ( 29895858 )
2018
14
Association between male Infertility and seminal plasma levels of growth hormone and insulin-like growth factor-1. ( 29808481 )
2018
15
Association of the c.-9C>T and c.368A>G transitions in H2BFWT gene with male infertility in an Iranian population. ( 28370107 )
2018
16
Comparative evaluation of the effects of Withania somnifera with pentoxifylline on the sperm parameters in idiopathic male infertility: A triple-blind randomised clinical trial. ( 29770466 )
2018
17
Evaluation of the Sysmex UF-1000i system as an alternative for the screening of genital tract inflammation in male infertility patients. ( 29806204 )
2018
18
Mouse model of chorea-acanthocytosis exhibits male infertility caused by impaired sperm motility as a result of ultrastructural morphological abnormalities in the mitochondrial sheath in the sperm midpiece. ( 29928881 )
2018
19
Male Infertility Diagnosis and Treatment in the Era of InA Vitro Fertilization and Intracytoplasmic Sperm Injection. ( 29406062 )
2018
20
Influence of all-trans retinoic acid on sperm metabolism and oxidative stress: Its involvement in the physiopathology of varicocele-associated male infertility. ( 29943815 )
2018
21
Comprehensive genetic testing for female and male infertility using next-generation sequencing. ( 29779145 )
2018
22
Can Tangier disease cause male infertility? A case report and an overview on genetic causes of male infertility and hormonal axis involved. ( 29198592 )
2018
23
Associations of semen quality with non-essential heavy metals in blood and seminal fluid: data from the Environment and Male Infertility (EMI) study in Lebanon. ( 29931406 )
2018
24
IL-1RA VNTR and IL-1I+ 4845G>T polymorphisms and risk of idiopathic male infertility in Iranian men: A case-control study and an in silico analysis. ( 29968322 )
2018
25
Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia. ( 29365104 )
2018
26
Discrepancies between the internet and academic literature regarding vitamin use for male infertility. ( 29928617 )
2018
27
Use of Ultrasound in Male Infertility: Appropriate Selection of Men for Scrotal Ultrasound. ( 29808325 )
2018
28
Lack of association between aryl hydrocarbon receptor gene Arg554Lys polymorphism and male infertility risk: A systematic review and meta-analysis. ( 29427904 )
2018
29
Two cases of reversible male infertility due to congenital adrenal hyperplasia combined with testicular adrenal rest tumor. ( 29371828 )
2018
30
Is male infertility associated with increased oxidative stress in seminal plasma? A-meta analysis. ( 29849956 )
2018
31
Association of N-acetyltransferase-2 and glutathione S-transferase polymorphisms with idiopathic male infertility in Vietnam male subjects. ( 29505746 )
2018
32
The Effect of Omega-3 Fatty Acids, EPA, and/or DHA on Male Infertility: A Systematic Review and Meta-analysis. ( 29451828 )
2018
33
Male infertility: a biomarker of individual and familial cancer risk. ( 29307404 )
2018
34
Genetic intersection of male infertility and cancer. ( 29307395 )
2018
35
The Role of Lifestyle in Male Infertility: Diet, Physical Activity, and Body Habitus. ( 29774489 )
2018
36
Association of the common SNPs in RNF212, STAG3 and RFX2 gene with male infertility with azoospermia in Chinese population. ( 29277047 )
2018
37
Human induced pluripotent stem cells and male infertility: an overview of current progress and perspectives. ( 29315416 )
2018
38
Intracytoplasmic sperm injection forA male infertility and consequences forA offspring. ( 29967387 )
2018
39
Association of the human aryl hydrocarbon receptor repressor (AhRR)-c.565C>G transversion with male infertility: A case-control study from Iran. ( 30506768 )
2018
40
An in silico analysis of human sperm genes associated with asthenozoospermia and its implication in male infertility. ( 30544396 )
2018
41
Associations between DNAH1 gene polymorphisms and male infertility: A retrospective study. ( 30544445 )
2018
42
Cytokines and male infertility. ( 30547889 )
2018
43
The Association of PON1 192 Q/R Polymorphism with the Risk of Idiopathic Male Infertility in Northern Iran. ( 30555659 )
2018
44
Low-molecular weight compounds in human seminal plasma as potential biomarkers of male infertility. ( 30239786 )
2018
45
Association between leptin, obesity, hormonal interplay and male infertility. ( 30255520 )
2018
46
Genetic evaluation of patients with non-syndromic male infertility. ( 30259277 )
2018
47
The excessive use of antioxidant therapy: A possible cause of male infertility? ( 30259539 )
2018
48
Schistosomiasis (bilharziasis) and male infertility. ( 30276841 )
2018
49
The challenges of supporting male infertility treatment in South Africa. ( 30283050 )
2018
50
Diagnosing male infertility. ( 30287677 )
2018
Sources

Variations for Male Infertility

About this section

ClinVar genetic disease variations for Male Infertility:

6 (show top 50) (show all 92)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYO6 NM_004999.3(MYO6): c.3176G> C (p.Arg1059Thr) single nucleotide variant Uncertain significance rs202214380 GRCh37 Chromosome 6, 76608128: 76608128
2 MYO6 NM_004999.3(MYO6): c.3176G> C (p.Arg1059Thr) single nucleotide variant Uncertain significance rs202214380 GRCh38 Chromosome 6, 75898411: 75898411
3 CATSPER1 NM_053054.3(CATSPER1): c.*124_*125delAG deletion Uncertain significance rs764701805 GRCh38 Chromosome 11, 66016765: 66016766
4 CATSPER1 NM_053054.3(CATSPER1): c.*124_*125delAG deletion Uncertain significance rs764701805 GRCh37 Chromosome 11, 65784236: 65784237
5 CATSPER1 NM_053054.3(CATSPER1): c.*23G> A single nucleotide variant Uncertain significance rs373009756 GRCh38 Chromosome 11, 66016867: 66016867
6 CATSPER1 NM_053054.3(CATSPER1): c.*23G> A single nucleotide variant Uncertain significance rs373009756 GRCh37 Chromosome 11, 65784338: 65784338
7 CATSPER1 NM_053054.3(CATSPER1): c.2109G> A (p.Thr703=) single nucleotide variant Uncertain significance rs139275824 GRCh38 Chromosome 11, 66020156: 66020156
8 CATSPER1 NM_053054.3(CATSPER1): c.2109G> A (p.Thr703=) single nucleotide variant Uncertain significance rs139275824 GRCh37 Chromosome 11, 65787627: 65787627
9 CATSPER1 NM_053054.3(CATSPER1): c.1748T> G (p.Ile583Ser) single nucleotide variant Uncertain significance rs760223439 GRCh38 Chromosome 11, 66021129: 66021129
10 CATSPER1 NM_053054.3(CATSPER1): c.1748T> G (p.Ile583Ser) single nucleotide variant Uncertain significance rs760223439 GRCh37 Chromosome 11, 65788600: 65788600
11 CATSPER1 NM_053054.3(CATSPER1): c.1544-6C> T single nucleotide variant Uncertain significance rs147398525 GRCh38 Chromosome 11, 66021649: 66021649
12 CATSPER1 NM_053054.3(CATSPER1): c.1544-6C> T single nucleotide variant Uncertain significance rs147398525 GRCh37 Chromosome 11, 65789120: 65789120
13 CATSPER1 NM_053054.3(CATSPER1): c.1544-10G> A single nucleotide variant Uncertain significance rs764182570 GRCh38 Chromosome 11, 66021653: 66021653
14 CATSPER1 NM_053054.3(CATSPER1): c.1544-10G> A single nucleotide variant Uncertain significance rs764182570 GRCh37 Chromosome 11, 65789124: 65789124
15 CATSPER1 NM_053054.3(CATSPER1): c.1384G> A (p.Val462Ile) single nucleotide variant Uncertain significance rs768194764 GRCh38 Chromosome 11, 66022894: 66022894
16 CATSPER1 NM_053054.3(CATSPER1): c.1384G> A (p.Val462Ile) single nucleotide variant Uncertain significance rs768194764 GRCh37 Chromosome 11, 65790365: 65790365
17 CATSPER1 NM_053054.3(CATSPER1): c.1195G> A (p.Gly399Arg) single nucleotide variant Uncertain significance rs886048522 GRCh38 Chromosome 11, 66025185: 66025185
18 CATSPER1 NM_053054.3(CATSPER1): c.1195G> A (p.Gly399Arg) single nucleotide variant Uncertain significance rs886048522 GRCh37 Chromosome 11, 65792656: 65792656
19 CATSPER1 NM_053054.3(CATSPER1): c.1069C> T (p.Arg357Trp) single nucleotide variant Uncertain significance rs764233008 GRCh38 Chromosome 11, 66025311: 66025311
20 CATSPER1 NM_053054.3(CATSPER1): c.1069C> T (p.Arg357Trp) single nucleotide variant Uncertain significance rs764233008 GRCh37 Chromosome 11, 65792782: 65792782
21 CATSPER1 NM_053054.3(CATSPER1): c.813T> C (p.Asp271=) single nucleotide variant Uncertain significance rs371489713 GRCh37 Chromosome 11, 65793038: 65793038
22 CATSPER1 NM_053054.3(CATSPER1): c.813T> C (p.Asp271=) single nucleotide variant Uncertain significance rs371489713 GRCh38 Chromosome 11, 66025567: 66025567
23 CATSPER1 NM_053054.3(CATSPER1): c.504C> T (p.His168=) single nucleotide variant Uncertain significance rs886048523 GRCh37 Chromosome 11, 65793347: 65793347
24 CATSPER1 NM_053054.3(CATSPER1): c.504C> T (p.His168=) single nucleotide variant Uncertain significance rs886048523 GRCh38 Chromosome 11, 66025876: 66025876
25 CATSPER1 NM_053054.3(CATSPER1): c.333C> T (p.Tyr111=) single nucleotide variant Uncertain significance rs575875557 GRCh37 Chromosome 11, 65793518: 65793518
26 CATSPER1 NM_053054.3(CATSPER1): c.333C> T (p.Tyr111=) single nucleotide variant Uncertain significance rs575875557 GRCh38 Chromosome 11, 66026047: 66026047
27 CATSPER1 NM_053054.3(CATSPER1): c.-23delG deletion Uncertain significance rs886048524 GRCh37 Chromosome 11, 65793873: 65793873
28 CATSPER1 NM_053054.3(CATSPER1): c.-23delG deletion Uncertain significance rs886048524 GRCh38 Chromosome 11, 66026402: 66026402
29 CATSPER1 NM_053054.3(CATSPER1): c.2126-13T> C single nucleotide variant Uncertain significance rs369959435 GRCh38 Chromosome 11, 66018915: 66018915
30 CATSPER1 NM_053054.3(CATSPER1): c.2126-13T> C single nucleotide variant Uncertain significance rs369959435 GRCh37 Chromosome 11, 65786386: 65786386
31 CATSPER1 NM_053054.3(CATSPER1): c.2070C> T (p.Ala690=) single nucleotide variant Likely benign rs3829937 GRCh38 Chromosome 11, 66020195: 66020195
32 CATSPER1 NM_053054.3(CATSPER1): c.2070C> T (p.Ala690=) single nucleotide variant Likely benign rs3829937 GRCh37 Chromosome 11, 65787666: 65787666
33 CATSPER1 NM_053054.3(CATSPER1): c.2064+6G> A single nucleotide variant Uncertain significance rs143930161 GRCh38 Chromosome 11, 66020311: 66020311
34 CATSPER1 NM_053054.3(CATSPER1): c.2064+6G> A single nucleotide variant Uncertain significance rs143930161 GRCh37 Chromosome 11, 65787782: 65787782
35 CATSPER1 NM_053054.3(CATSPER1): c.1954G> A (p.Val652Ile) single nucleotide variant Benign rs3814747 GRCh38 Chromosome 11, 66020601: 66020601
36 CATSPER1 NM_053054.3(CATSPER1): c.1954G> A (p.Val652Ile) single nucleotide variant Benign rs3814747 GRCh37 Chromosome 11, 65788072: 65788072
37 CATSPER1 NM_053054.3(CATSPER1): c.1542G> A (p.Leu514=) single nucleotide variant Uncertain significance rs886048520 GRCh38 Chromosome 11, 66021767: 66021767
38 CATSPER1 NM_053054.3(CATSPER1): c.1542G> A (p.Leu514=) single nucleotide variant Uncertain significance rs886048520 GRCh37 Chromosome 11, 65789238: 65789238
39 CATSPER1 NM_053054.3(CATSPER1): c.1444G> A (p.Ala482Thr) single nucleotide variant Uncertain significance rs886048521 GRCh38 Chromosome 11, 66021865: 66021865
40 CATSPER1 NM_053054.3(CATSPER1): c.1444G> A (p.Ala482Thr) single nucleotide variant Uncertain significance rs886048521 GRCh37 Chromosome 11, 65789336: 65789336
41 CATSPER1 NM_053054.3(CATSPER1): c.1222C> A (p.Arg408=) single nucleotide variant Likely benign rs2845570 GRCh38 Chromosome 11, 66023056: 66023056
42 CATSPER1 NM_053054.3(CATSPER1): c.1222C> A (p.Arg408=) single nucleotide variant Likely benign rs2845570 GRCh37 Chromosome 11, 65790527: 65790527
43 CATSPER1 NM_053054.3(CATSPER1): c.970C> G (p.Gln324Glu) single nucleotide variant Uncertain significance rs773285320 GRCh37 Chromosome 11, 65792881: 65792881
44 CATSPER1 NM_053054.3(CATSPER1): c.970C> G (p.Gln324Glu) single nucleotide variant Uncertain significance rs773285320 GRCh38 Chromosome 11, 66025410: 66025410
45 CATSPER1 NM_053054.3(CATSPER1): c.730G> A (p.Gly244Arg) single nucleotide variant Likely benign rs79062509 GRCh37 Chromosome 11, 65793121: 65793121
46 CATSPER1 NM_053054.3(CATSPER1): c.730G> A (p.Gly244Arg) single nucleotide variant Likely benign rs79062509 GRCh38 Chromosome 11, 66025650: 66025650
47 CATSPER1 NM_053054.3(CATSPER1): c.402G> A (p.Gly134=) single nucleotide variant Uncertain significance rs370953416 GRCh37 Chromosome 11, 65793449: 65793449
48 CATSPER1 NM_053054.3(CATSPER1): c.402G> A (p.Gly134=) single nucleotide variant Uncertain significance rs370953416 GRCh38 Chromosome 11, 66025978: 66025978
49 CATSPER1 NM_053054.3(CATSPER1): c.55G> A (p.Ala19Thr) single nucleotide variant Uncertain significance rs775284326 GRCh37 Chromosome 11, 65793796: 65793796
50 CATSPER1 NM_053054.3(CATSPER1): c.55G> A (p.Ala19Thr) single nucleotide variant Uncertain significance rs775284326 GRCh38 Chromosome 11, 66026325: 66026325
Sources

Expression for Male Infertility

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Search GEO for disease gene expression data for Male Infertility.
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Pathways for Male Infertility

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GO Terms for Male Infertility

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Cellular components related to Male Infertility according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.83 AR BPY2 BPY2B BPY2C CFTR DAZ1
2 nucleosome GO:0000786 9.43 H2BFWT PRM1 PRM2
3 protein-containing complex GO:0032991 9.17 AR CFTR DAZ1 DAZ2 DAZ3 DAZ4
4 CatSper complex GO:0036128 9.16 CATSPER1 CATSPER2

Biological processes related to Male Infertility according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.96 BOLL CATSPER1 CATSPER2 DAZ1 DAZ2 DAZ3
2 single fertilization GO:0007338 9.77 AR BPY2 BPY2B BPY2C DAZ2
3 protein deubiquitination GO:0016579 9.73 AR CFTR USP26 USP9Y
4 germ cell development GO:0007281 9.63 BOLL DAZ1 DAZ2 DAZ3 DAZ4 DAZL
5 spermatogenesis GO:0007283 9.5 AR BOLL BPY2 BPY2B BPY2C CATSPER1
6 chromosome condensation GO:0030261 9.49 PRM1 PRM2
7 sperm capacitation GO:0048240 9.48 CATSPER2 CFTR
8 sperm-egg recognition GO:0035036 9.46 CATSPER1 CATSPER2
9 positive regulation of translational initiation GO:0045948 9.43 BOLL DAZ1 DAZ2 DAZ3 DAZ4 DAZL
10 DNA packaging GO:0006323 9.4 PRM1 PRM2
11 multicellular organism development GO:0007275 10.02 BOLL CATSPER1 CATSPER2 DAZ1 DAZ2 DAZ3

Molecular functions related to Male Infertility according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.91 BOLL DAZ1 DAZ2 DAZ3 DAZ4 DAZL
2 mRNA binding GO:0003729 9.73 BOLL DAZ1 DAZ2 DAZ3 DAZ4 DAZL
3 mRNA 3'-UTR binding GO:0003730 9.43 BOLL DAZ1 DAZ2 DAZ3 DAZ4 DAZL
4 HECT domain binding GO:0032399 9.33 BPY2 BPY2B BPY2C
5 calcium activated cation channel activity GO:0005227 9.32 CATSPER1 CATSPER2
6 translation activator activity GO:0008494 9.1 BOLL DAZ1 DAZ2 DAZ3 DAZ4 DAZL
7 protein binding GO:0005515 10.31 AR BOLL BPY2 BPY2B BPY2C CATSPER1
Sources

Sources for Male Infertility

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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