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MCID: MLN007
MIFTS: 53

Male Infertility

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

About this section

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
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 oligospermia, 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 DAZ1 (Deleted In Azoospermia 1). The drugs Metformin and Folic Acid 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 related to Male Infertility via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 111)
# Related Disease Score Top Affiliating Genes
1 catsper-related male infertility 33.8 CATSPER1 CATSPER2
2 oligospermia 31.7 AR CFTR DAZ1 DAZ4
3 spermatogenic failure, x-linked, 1 31.3 DAZ1 DAZ4 DAZL DDX3Y USP26 USP9Y
4 spermatogenic failure, y-linked, 2 31.2 BPY2 DAZ1 DAZ2 DAZ3 DAZ4 DDX3Y
5 azoospermia 30.7 AR BOLL DAZ1 DAZ2 DAZ3 DAZ4
6 infertility 30.0 CATSPER1 CATSPER2 DAZ1 DAZ3 DAZ4 DAZL
7 catsper1-related nonsyndromic male infertility 12.4
8 non-syndromic male infertility due to sperm motility disorder 12.3
9 rare idiopathic male infertility 12.2
10 spermatogenic failure 6 12.1
11 male infertility with spermatogenesis disorder 12.1
12 male infertility with spermatogenesis disorder due to single gene mutation 12.1
13 male infertility with teratozoospermia due to single gene mutation 12.1
14 spermatogenic failure 5 12.0
15 deafness-infertility syndrome 11.9
16 macrozoospermia 11.7
17 spermatogenic failure 7 11.3
18 spermatogenic failure, x-linked, 2 11.2
19 spermatogenic failure 17 11.2
20 cystic fibrosis 11.2
21 young syndrome 11.0
22 spermatogenic failure, y-linked, 1 10.8
23 spermatogenic failure 9 10.8
24 ciliary dyskinesia, primary, 18 10.8
25 ciliary dyskinesia, primary, 22 10.8
26 spermatogenic failure 13 10.8
27 spermatogenic failure 14 10.8
28 glucocorticoid resistance, generalized 10.8
29 ciliary dyskinesia, primary, 34 10.8
30 spermatogenic failure 16 10.8
31 spermatogenic failure 18 10.8
32 spermatogenic failure 21 10.8
33 mthfr gene variant 10.8
34 varicocele 10.3
35 partial deletion of y 10.2 DAZ1 DAZ2 DAZ3 DAZ4 DDX3Y USP9Y
36 phelan-mcdermid syndrome 10.2 DAZ1 DAZL USP9Y
37 prostatitis 10.1
38 chlamydia 10.0
39 lipoid congenital adrenal hyperplasia 10.0
40 hypogonadotropic hypogonadism 10.0
41 aging 9.9
42 hypogonadism 9.9
43 hyperprolactinemia 9.8
44 primary ciliary dyskinesia 9.8
45 spinal cord injury 9.8
46 inguinal hernia 9.8
47 adrenal rest tumor 9.8
48 impotence 9.8
49 orchitis 9.8
50 thyroiditis 9.8

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 BPY2B BPY2C BPY2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.58 BPY2B BPY2C BPY2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.58 BPY2B BPY2C BPY2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.58 BPY2 BPY2B BPY2C
Sources

Drugs & Therapeutics for Male Infertility

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

(show top 50) (show all 186)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4 657-24-9 14219 4091
2
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 59-30-3 6037
3
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
4
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 77-92-9 311
5
leucovorin Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Not Applicable 58-05-9 143 6006
6
Ginseng Approved, Investigational, Nutraceutical Phase 4 50647-08-0
7
Enclomiphene Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 15690-57-0
8 Antioxidants Phase 4,Phase 3,Phase 2,Early Phase 1,Not Applicable
9 Central Nervous System Depressants Phase 4,Phase 2,Not Applicable
10 Follicle Stimulating Hormone Phase 4,Phase 3,Phase 2,Not Applicable
11 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
12 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
13 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
14 Micronutrients Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
15 Protective Agents Phase 4,Phase 3,Phase 2,Early Phase 1,Not Applicable
16 Trace Elements Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
17 Vitamin B Complex Phase 4,Phase 3,Phase 2,Not Applicable
18 Vitamins Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
19 Anticoagulants Phase 4,Phase 2,Phase 3,Not Applicable
20 Calcium, Dietary Phase 4,Phase 2,Phase 3,Not Applicable
21 Chelating Agents Phase 4,Phase 2,Phase 3,Not Applicable
22 Chorionic Gonadotropin Phase 4,Phase 2,Not Applicable
23 Clomiphene Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
24 Estrogen Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
25 Estrogen Receptor Modulators Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
26 Estrogens Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
27 Fertility Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
28 Hypoglycemic Agents Phase 4
29 insulin Phase 4
30 Insulin, Globin Zinc Phase 4
31 Selective Estrogen Receptor Modulators Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
32 Zuclomiphene Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
33 Hematinics Phase 4,Phase 3,Not Applicable
34 Folate Nutraceutical Phase 4,Phase 3,Phase 2,Not Applicable
35 Vitamin B9 Nutraceutical Phase 4,Phase 3,Phase 2,Not Applicable
36 Citrate Nutraceutical Phase 4,Phase 2,Phase 3,Not Applicable
37
Letrozole Approved, Investigational Phase 3 112809-51-5 3902
38
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
39
Dacarbazine Approved, Investigational Phase 3 4342-03-4 5351166
40
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
41
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
42
Prednisone Approved, Vet_approved Phase 3,Not Applicable 53-03-2 5865
43
Procarbazine Approved, Investigational Phase 3 671-16-9 4915
44
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
45
Methyltestosterone Approved Phase 3,Phase 2 58-18-4 6010
46
Testosterone Approved, Investigational Phase 3,Phase 2 58-22-0 6013
47
Testosterone enanthate Approved Phase 3,Phase 2 315-37-7 9416
48
Testosterone undecanoate Approved, Investigational Phase 3,Phase 2 5949-44-0
49
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
50 Estradiol valerate Approved, Investigational, Vet_approved Phase 3 979-32-8

Interventional clinical trials:

(show top 50) (show all 119)
# 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 Anti-oxidative Influence From Pomegranate Tablets on Male Sperm Quality in Couples Undergo Infertility Treatments Due to Male Infertility. Unknown status NCT01918163 Phase 3
12 FSH Treatment for Non-obstructive Azoospermic Patients Unknown status NCT02275169 Phase 3 Urofollitropin
13 Spermotrend in the Treatment of Male Infertility Completed NCT00975117 Phase 3
14 Impact of Folates in the Care of the Male Infertility Completed NCT01407432 Phase 3 Folic acid;placebo of folic acid
15 Vitamin D Supplementation and Male Infertility: The CBG-study a Randomized Clinical Trial Completed NCT01304927 Phase 2, Phase 3 Cholecalciferol and calcium
16 FSH Receptor Polymorphism p.N680S and Efficacy of FSH Therapy Completed NCT02349945 Phase 2, Phase 3 follitropin alpha
17 Menevit Study: Menevit Anti-Oxidant Therapy for the Treatment of Male Infertility Completed NCT00100269 Phase 3 Menevit anti-oxidant
18 Herbal Tonic Fertile Supplement(ZO2C5) Completed NCT01895816 Phase 3
19 Effect of Letrozole on Seminal Parameters in Men With Non Obstructive Azoospermia and Severe Oligozoospermia. Completed NCT02900105 Phase 3 Letrozole
20 Combination Chemotherapy in Treating Young Patients With Hodgkin's Lymphoma Completed NCT00433459 Phase 3 cyclophosphamide;dacarbazine;prednisolone;prednisone;procarbazine hydrochloride;vincristine sulfate
21 Single Dose Intravesical Apaziquone Postoperative in Patients Undergoing TURBT for Noninvasive Bladder Cancer (SPI-612) Completed NCT00598806 Phase 3 Apaziquone;Placebo
22 The Effect of Combination of Red and White Bahman Retrieved of Iranian Traditional Medicine on Semen Parameters in Idiopathic Oligospermic Men Recruiting NCT02998593 Phase 3 Bahman capsules;Placebo
23 Effect of Walnuts on Sperm Parameters and Male Fertility Recruiting NCT01954498 Phase 2, Phase 3
24 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
25 Aromatase Inhibitors in the Treatment of Male Infertility Terminated NCT00440180 Phase 3 Anastrozole;Placebo
26 Efficacy and Safety of Multi-Instillations of Apaziquone in Patients With Non-Muscle Invasive Bladder Cancer Terminated NCT01410565 Phase 3 Apaziquone;Placebo
27 Androxal in Male Infertility Withdrawn NCT02160704 Phase 2, Phase 3 Enclomiphene citrate
28 MSCs For Treatment of Azoospermic Patients Unknown status NCT02025270 Phase 1, Phase 2
29 Testicular Injection of Autologous Stem Cells for Treatment of Patients With Azoospermia Unknown status NCT02041910 Phase 1, Phase 2
30 The Effect and Safety of Lisinopril in Non-hypertensive Men With Infertility From Low Sperm Count Completed NCT01409837 Phase 2 Lisinopril
31 Denosumab and Male Infertility: a RCT Recruiting NCT03030196 Phase 2 Denosumab
32 Intra-Testicular Transplantation of Autologous Stem Cells for Treatment of Non-Obstructive Azoospermia Male Infertility. Recruiting NCT02641769 Phase 1, Phase 2
33 RA-4: 13-cis Retinoic Acid for Treatment of Men With Azoospermia Recruiting NCT03323801 Phase 2 13-cis retinoic acid
34 GnRHa Combined With hCG and hMG for Treatment of Patients With Non-obstructive Azoospermia Recruiting NCT02544191 Phase 2 GnRHa/ hCG/ hMG
35 Males, Antioxidants, and Infertility Trial Active, not recruiting NCT02421887 Phase 2 Antioxidant Supplement
36 TNFSF11 Inhibition and Fertility: a Prospective Study Active, not recruiting NCT02422108 Phase 2 Denosumab
37 Clomiphene Citrate for the Treatment of Low Testosterone Associated With Chronic Opioid Pain Medication Administration Active, not recruiting NCT01880086 Phase 2 Clomiphene citrate;Placebo
38 RA-2 13-cis Retinoic Acid (Isotretinoin) Active, not recruiting NCT02061384 Phase 2 13-cis retinoic acid;Calcitriol
39 Influence of Culture Media on Clinical Outcomes in Poor Responders or Severe Male Infertility Unknown status NCT02575924 Phase 1 sequential medium;1-step medium
40 A Pilot Study to Evaluate the Effect of Pomegranate Juice on Semen Parameters in Healthy Male Volunteers Completed NCT01595308 Phase 1
41 Choline Dehydrogenase and Sperm Function: Effects of Betaine Completed NCT02122211 Phase 1 Betaine supplement
42 Administration of Clomiphene: Short and Long Term Metabolism in an Anti-Doping Setting Active, not recruiting NCT03028532 Phase 1 Clomid
43 Proposed Research Protocol For Male Infertility Unknown status NCT01255397 Not Applicable
44 Oxidative Stress and Lipidomics in Male Infertility Unknown status NCT02062229
45 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
46 Study of Sperm Molecular Factors Implicated in Male Fertility Unknown status NCT00481403
47 A Clinical Evaluation of Semen Quality Using the MiOXSYSâ„¢ System 2.0 Unknown status NCT02839447
48 Spermatogonial Stem Cells in Azoospermic Patients: a Comparison Between Obstructive and Non-obstructive Azoospermia Unknown status NCT01178463
49 Management of Peyronie's Disease With Adipose Tissue Stem Cell Unknown status NCT02414308 Not Applicable Adipose tissue stem cell injection
50 Management of Sexual Dysfunction With Bioresonance Technique Unknown status NCT02028013

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, Pituitary, Bone Marrow
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 1078)
# Title Authors Year
1
Nationwide survey of urological specialists regarding male infertility: results from a 2015 questionnaire in Japan. ( 29371820 )
2018
2
Sirtuins in gamete biology and reproductive physiology: emerging roles and therapeutic potential in female and male infertility. ( 29447380 )
2018
3
Changes in practice patterns in male infertility cases in the United States: the trend toward subspecialization. ( 29980267 )
2018
4
Role of Withania somnifera (Ashwagandha) in the management of male infertility. ( 29277366 )
2018
5
Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human. ( 29449551 )
2018
6
IL-1E9 C376A Transversion Variant and Risk of Idiopathic Male Infertility in Iranian Men: A Genetic Association Study. ( 29935069 )
2018
7
Point-of-care whole-exome sequencing of idiopathic male infertility. ( 29790874 )
2018
8
Deletion of DDB1- and CUL4- associated factor-17 (Dcaf17) gene causes spermatogenesis defects and male infertility in mice. ( 29907856 )
2018
9
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
10
Application of induced pluripotent stem cell and embryonic stem cell technology to the study of male infertility. ( 29870061 )
2018
11
A homozygous FANCM frameshift pathogenic variant causes male infertility. ( 29895858 )
2018
12
Association between male Infertility and seminal plasma levels of growth hormone and insulin-like growth factor-1. ( 29808481 )
2018
13
Association of the c.-9C>T and c.368A>G transitions in H2BFWT gene with male infertility in an Iranian population. ( 28370107 )
2018
14
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
15
Evaluation of the Sysmex UF-1000i system as an alternative for the screening of genital tract inflammation in male infertility patients. ( 29806204 )
2018
16
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
17
Male Infertility Diagnosis and Treatment in the Era of InA Vitro Fertilization and Intracytoplasmic Sperm Injection. ( 29406062 )
2018
18
Influence of all-trans retinoic acid on sperm metabolism and oxidative stress: Its involvement in the physiopathology of varicocele-associated male infertility. ( 29943815 )
2018
19
Comprehensive genetic testing for female and male infertility using next-generation sequencing. ( 29779145 )
2018
20
Can Tangier disease cause male infertility? A case report and an overview on genetic causes of male infertility and hormonal axis involved. ( 29198592 )
2018
21
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
22
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
23
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
24
Discrepancies between the internet and academic literature regarding vitamin use for male infertility. ( 29928617 )
2018
25
Use of Ultrasound in Male Infertility: Appropriate Selection of Men for Scrotal Ultrasound. ( 29808325 )
2018
26
Lack of association between aryl hydrocarbon receptor gene Arg554Lys polymorphism and male infertility risk: A systematic review and meta-analysis. ( 29427904 )
2018
27
Two cases of reversible male infertility due to congenital adrenal hyperplasia combined with testicular adrenal rest tumor. ( 29371828 )
2018
28
Is male infertility associated with increased oxidative stress in seminal plasma? A-meta analysis. ( 29849956 )
2018
29
Association of N-acetyltransferase-2 and glutathione S-transferase polymorphisms with idiopathic male infertility in Vietnam male subjects. ( 29505746 )
2018
30
The Effect of Omega-3 Fatty Acids, EPA, and/or DHA on Male Infertility: A Systematic Review and Meta-analysis. ( 29451828 )
2018
31
Male infertility: a biomarker of individual and familial cancer risk. ( 29307404 )
2018
32
Genetic intersection of male infertility and cancer. ( 29307395 )
2018
33
The Role of Lifestyle in Male Infertility: Diet, Physical Activity, and Body Habitus. ( 29774489 )
2018
34
Association of the common SNPs in RNF212, STAG3 and RFX2 gene with male infertility with azoospermia in Chinese population. ( 29277047 )
2018
35
Human induced pluripotent stem cells and male infertility: an overview of current progress and perspectives. ( 29315416 )
2018
36
Intracytoplasmic sperm injection forA male infertility and consequences forA offspring. ( 29967387 )
2018
37
Effectiveness of low level laser therapy for treating male infertility. ( 29806585 )
2018
38
Fluorescence in situ hybridisation sperm examination is significantly impaired in all categories of male infertility. ( 28762516 )
2017
39
MTHFR C677T, A1298C and MS A2756G Gene Polymorphisms and Male Infertility Risk in a Chinese Population: A Meta-Analysis. ( 28081209 )
2017
40
The impact of RABL2B gene (rs144944885) on human male infertility in patients with oligoasthenoteratozoospermia and immotile short tail sperm defects. ( 28138870 )
2017
41
In silico analysis of candidate proteins sharing homology with Streptococcus agalactiae proteins and their role in male infertility. ( 27802063 )
2017
42
Male infertility - The other side of the equation. ( 28892594 )
2017
43
TTY2 genes deletions as genetic risk factor of male infertility. ( 28364784 )
2017
44
Male Infertility: The Effect of Natural Antioxidants and Phytocompounds on Seminal Oxidative Stress. ( 28933362 )
2017
45
Correlation between SHBG gene polymorphism and male infertility in Han population of Henan province of China: A STROBE-compliant article. ( 28796064 )
2017
46
Is there a role for Serratia marcescens in male infertility: An experimental study? ( 28161359 )
2017
47
Male Infertility Associated with a Supernumerary Marker Chromosome. ( 28879694 )
2017
48
Re: Causes of Male Infertility: A 9-Year Prospective Monocentre Study on 1737 Patients with Reduced Total Sperm Counts. ( 28817890 )
2017
49
Office-based andrology and male infertility procedures-a cost-effective alternative. ( 28904909 )
2017
50
Association of CAT-262C/T with the concentration of catalase in seminal plasma and the risk for male infertility in Algeria. ( 28436704 )
2017
Sources

Variations for Male Infertility

About this section

ClinVar genetic disease variations for Male Infertility:

6
(show top 50) (show all 91)
# Gene Variation Type Significance SNP ID Assembly Location
1 46;XY;t(20;22)(q13.3;q11.2) Translocation Uncertain significance
2 46;XY;t(12;14)(q15;q13)mat Translocation Uncertain significance
3 46;XY;t(7;12)(q21;q21)dn Translocation Uncertain significance
4 CATSPER1 NM_053054.3(CATSPER1): c.*124_*125delAG deletion Uncertain significance rs764701805 GRCh38 Chromosome 11, 66016765: 66016766
5 CATSPER1 NM_053054.3(CATSPER1): c.*124_*125delAG deletion Uncertain significance rs764701805 GRCh37 Chromosome 11, 65784236: 65784237
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.*23G> A single nucleotide variant Uncertain significance rs373009756 GRCh38 Chromosome 11, 66016867: 66016867
8 CATSPER1 NM_053054.3(CATSPER1): c.2109G> A (p.Thr703=) single nucleotide variant Uncertain significance rs139275824 GRCh38 Chromosome 11, 66020156: 66020156
9 CATSPER1 NM_053054.3(CATSPER1): c.2109G> A (p.Thr703=) single nucleotide variant Uncertain significance rs139275824 GRCh37 Chromosome 11, 65787627: 65787627
10 CATSPER1 NM_053054.3(CATSPER1): c.1748T> G (p.Ile583Ser) single nucleotide variant Uncertain significance rs760223439 GRCh38 Chromosome 11, 66021129: 66021129
11 CATSPER1 NM_053054.3(CATSPER1): c.1748T> G (p.Ile583Ser) single nucleotide variant Uncertain significance rs760223439 GRCh37 Chromosome 11, 65788600: 65788600
12 CATSPER1 NM_053054.3(CATSPER1): c.1544-6C> T single nucleotide variant Uncertain significance rs147398525 GRCh38 Chromosome 11, 66021649: 66021649
13 CATSPER1 NM_053054.3(CATSPER1): c.1544-6C> T single nucleotide variant Uncertain significance rs147398525 GRCh37 Chromosome 11, 65789120: 65789120
14 CATSPER1 NM_053054.3(CATSPER1): c.1544-10G> A single nucleotide variant Uncertain significance rs764182570 GRCh38 Chromosome 11, 66021653: 66021653
15 CATSPER1 NM_053054.3(CATSPER1): c.1544-10G> A single nucleotide variant Uncertain significance rs764182570 GRCh37 Chromosome 11, 65789124: 65789124
16 CATSPER1 NM_053054.3(CATSPER1): c.1384G> A (p.Val462Ile) single nucleotide variant Uncertain significance rs768194764 GRCh38 Chromosome 11, 66022894: 66022894
17 CATSPER1 NM_053054.3(CATSPER1): c.1384G> A (p.Val462Ile) single nucleotide variant Uncertain significance rs768194764 GRCh37 Chromosome 11, 65790365: 65790365
18 CATSPER1 NM_053054.3(CATSPER1): c.1195G> A (p.Gly399Arg) single nucleotide variant Uncertain significance rs886048522 GRCh38 Chromosome 11, 66025185: 66025185
19 CATSPER1 NM_053054.3(CATSPER1): c.1195G> A (p.Gly399Arg) single nucleotide variant Uncertain significance rs886048522 GRCh37 Chromosome 11, 65792656: 65792656
20 CATSPER1 NM_053054.3(CATSPER1): c.1069C> T (p.Arg357Trp) single nucleotide variant Uncertain significance rs764233008 GRCh38 Chromosome 11, 66025311: 66025311
21 CATSPER1 NM_053054.3(CATSPER1): c.1069C> T (p.Arg357Trp) single nucleotide variant Uncertain significance rs764233008 GRCh37 Chromosome 11, 65792782: 65792782
22 CATSPER1 NM_053054.3(CATSPER1): c.813T> C (p.Asp271=) single nucleotide variant Uncertain significance rs371489713 GRCh37 Chromosome 11, 65793038: 65793038
23 CATSPER1 NM_053054.3(CATSPER1): c.813T> C (p.Asp271=) single nucleotide variant Uncertain significance rs371489713 GRCh38 Chromosome 11, 66025567: 66025567
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.504C> T (p.His168=) single nucleotide variant Uncertain significance rs886048523 GRCh37 Chromosome 11, 65793347: 65793347
26 CATSPER1 NM_053054.3(CATSPER1): c.333C> T (p.Tyr111=) single nucleotide variant Uncertain significance rs575875557 GRCh37 Chromosome 11, 65793518: 65793518
27 CATSPER1 NM_053054.3(CATSPER1): c.333C> T (p.Tyr111=) single nucleotide variant Uncertain significance rs575875557 GRCh38 Chromosome 11, 66026047: 66026047
28 CATSPER1 NM_053054.3(CATSPER1): c.-23delG deletion Uncertain significance rs886048524 GRCh37 Chromosome 11, 65793873: 65793873
29 CATSPER1 NM_053054.3(CATSPER1): c.-23delG deletion Uncertain significance rs886048524 GRCh38 Chromosome 11, 66026402: 66026402
30 CATSPER1 NM_053054.3(CATSPER1): c.2126-13T> C single nucleotide variant Uncertain significance rs369959435 GRCh38 Chromosome 11, 66018915: 66018915
31 CATSPER1 NM_053054.3(CATSPER1): c.2126-13T> C single nucleotide variant Uncertain significance rs369959435 GRCh37 Chromosome 11, 65786386: 65786386
32 CATSPER1 NM_053054.3(CATSPER1): c.2070C> T (p.Ala690=) single nucleotide variant Likely benign rs3829937 GRCh38 Chromosome 11, 66020195: 66020195
33 CATSPER1 NM_053054.3(CATSPER1): c.2070C> T (p.Ala690=) single nucleotide variant Likely benign rs3829937 GRCh37 Chromosome 11, 65787666: 65787666
34 CATSPER1 NM_053054.3(CATSPER1): c.2064+6G> A single nucleotide variant Uncertain significance rs143930161 GRCh38 Chromosome 11, 66020311: 66020311
35 CATSPER1 NM_053054.3(CATSPER1): c.2064+6G> A single nucleotide variant Uncertain significance rs143930161 GRCh37 Chromosome 11, 65787782: 65787782
36 CATSPER1 NM_053054.3(CATSPER1): c.1954G> A (p.Val652Ile) single nucleotide variant Benign rs3814747 GRCh38 Chromosome 11, 66020601: 66020601
37 CATSPER1 NM_053054.3(CATSPER1): c.1954G> A (p.Val652Ile) single nucleotide variant Benign rs3814747 GRCh37 Chromosome 11, 65788072: 65788072
38 CATSPER1 NM_053054.3(CATSPER1): c.1542G> A (p.Leu514=) single nucleotide variant Uncertain significance rs886048520 GRCh38 Chromosome 11, 66021767: 66021767
39 CATSPER1 NM_053054.3(CATSPER1): c.1542G> A (p.Leu514=) single nucleotide variant Uncertain significance rs886048520 GRCh37 Chromosome 11, 65789238: 65789238
40 CATSPER1 NM_053054.3(CATSPER1): c.1444G> A (p.Ala482Thr) single nucleotide variant Uncertain significance rs886048521 GRCh38 Chromosome 11, 66021865: 66021865
41 CATSPER1 NM_053054.3(CATSPER1): c.1444G> A (p.Ala482Thr) single nucleotide variant Uncertain significance rs886048521 GRCh37 Chromosome 11, 65789336: 65789336
42 CATSPER1 NM_053054.3(CATSPER1): c.1222C> A (p.Arg408=) single nucleotide variant Likely benign rs2845570 GRCh38 Chromosome 11, 66023056: 66023056
43 CATSPER1 NM_053054.3(CATSPER1): c.1222C> A (p.Arg408=) single nucleotide variant Likely benign rs2845570 GRCh37 Chromosome 11, 65790527: 65790527
44 CATSPER1 NM_053054.3(CATSPER1): c.970C> G (p.Gln324Glu) single nucleotide variant Uncertain significance rs773285320 GRCh37 Chromosome 11, 65792881: 65792881
45 CATSPER1 NM_053054.3(CATSPER1): c.970C> G (p.Gln324Glu) single nucleotide variant Uncertain significance rs773285320 GRCh38 Chromosome 11, 66025410: 66025410
46 CATSPER1 NM_053054.3(CATSPER1): c.730G> A (p.Gly244Arg) single nucleotide variant Likely benign rs79062509 GRCh37 Chromosome 11, 65793121: 65793121
47 CATSPER1 NM_053054.3(CATSPER1): c.730G> A (p.Gly244Arg) single nucleotide variant Likely benign rs79062509 GRCh38 Chromosome 11, 66025650: 66025650
48 CATSPER1 NM_053054.3(CATSPER1): c.402G> A (p.Gly134=) single nucleotide variant Uncertain significance rs370953416 GRCh37 Chromosome 11, 65793449: 65793449
49 CATSPER1 NM_053054.3(CATSPER1): c.402G> A (p.Gly134=) single nucleotide variant Uncertain significance rs370953416 GRCh38 Chromosome 11, 66025978: 66025978
50 CATSPER1 NM_053054.3(CATSPER1): c.55G> A (p.Ala19Thr) single nucleotide variant Uncertain significance rs775284326 GRCh37 Chromosome 11, 65793796: 65793796
Sources

Expression for Male Infertility

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

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 9.86 AR BPY2 BPY2B BPY2C CFTR DAZ1
2 chromosome GO:0005694 9.62 H2BFWT PRM1 PRM2 TNP2
3 nucleosome GO:0000786 9.43 H2BFWT PRM1 PRM2
4 protein-containing complex GO:0032991 9.17 AR CFTR DAZ1 DAZ2 DAZ3 DAZ4
5 CatSper complex GO:0036128 9.16 CATSPER1 CATSPER2

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 single fertilization GO:0007338 9.8 AR BPY2 BPY2B BPY2C DAZ2
2 protein deubiquitination GO:0016579 9.76 AR CFTR USP26 USP9Y
3 germ cell development GO:0007281 9.73 BOLL DAZ1 DAZ2 DAZ3 DAZ4 DAZL
4 positive regulation of translational initiation GO:0045948 9.63 BOLL DAZ1 DAZ2 DAZ3 DAZ4 DAZL
5 spermatogenesis GO:0007283 9.53 AR BOLL BPY2 BPY2B BPY2C CATSPER1
6 membrane depolarization during action potential GO:0086010 9.51 CATSPER1 CATSPER2
7 chromosome condensation GO:0030261 9.49 PRM1 PRM2
8 sperm-egg recognition GO:0035036 9.48 CATSPER1 CATSPER2
9 DNA packaging GO:0006323 9.43 PRM1 PRM2
10 3-UTR-mediated mRNA stabilization GO:0070935 9.43 BOLL DAZ1 DAZ2 DAZ3 DAZ4 DAZL
11 multicellular organism development GO:0007275 10.11 BOLL CATSPER1 CATSPER2 DAZ1 DAZ2 DAZ3
12 cell differentiation GO:0030154 10.06 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 9.63 BOLL DAZ1 DAZ2 DAZ3 DAZ4 DAZL
3 HECT domain binding GO:0032399 9.43 BPY2 BPY2B BPY2C
4 mRNA 3-UTR binding GO:0003730 9.43 BOLL DAZ1 DAZ2 DAZ3 DAZ4 DAZL
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
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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