MCID: MLN007
MIFTS: 52

Male Infertility

Categories: Rare diseases, Reproductive diseases

Aliases & Classifications for Male Infertility

MalaCards integrated aliases for Male Infertility:

Name: Male Infertility 39 12 30 6 44 15 17 74
Infertility, Male 45 41
Infertility Male 56

Classifications:



External Ids:

Disease Ontology 12 DOID:12336
ICD9CM 36 606 606.9
MeSH 45 D007248
SNOMED-CT 69 2904007
ICD10 34 N46 N46.9
UMLS 74 C0021364

Summaries for Male Infertility

MedlinePlus : 44 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 non-syndromic male infertility due to sperm motility disorder, 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 Sodium Citrate have been mentioned in the context of this disorder. Affiliated tissues include Testis and Testis.

Wikipedia : 77 Male infertility refers to a male''s inability to cause pregnancy in a fertile female. In humans it... more...

Related Diseases for Male Infertility

Diseases in the Male Infertility family:

Catsper-Related Male Infertility Catsper1-Related Nonsyndromic Male Infertility
Male Infertility Due to Acephalic Spermatozoa

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

(show top 50) (show all 170)
# Related Disease Score Top Affiliating Genes
1 catsper-related male infertility 34.1 CATSPER1 CATSPER2
2 non-syndromic male infertility due to sperm motility disorder 34.1 CATSPER1 DNAH1
3 oligoasthenoteratozoospermia 32.6 AR CATSPER1 DAZL
4 spermatogenic failure, x-linked, 1 32.3 DAZ1 DAZ4 DAZL DDX3Y USP26 USP9Y
5 oligospermia 32.1 AR CFTR DAZ1 DAZ4
6 spermatogenic failure, y-linked, 2 32.1 DAZ1 DAZ4 DDX3Y USP9Y
7 azoospermia 32.0 AR BOLL DAZ1 DAZ4 DAZL DDX3Y
8 infertility 31.4 CATSPER1 CATSPER2 DAZ1 DAZ4 DAZL DDX3Y
9 cryptorchidism, unilateral or bilateral 30.0 AR DAZ1 DNAJB13
10 catsper1-related nonsyndromic male infertility 12.5
11 male infertility with teratozoospermia due to single gene mutation 12.5
12 rare idiopathic male infertility 12.4
13 spermatogenic failure 5 12.3
14 male infertility with spermatogenesis disorder 12.3
15 male infertility with spermatogenesis disorder due to single gene mutation 12.3
16 male infertility due to acephalic spermatozoa 12.3
17 spermatogenic failure 9 12.2
18 macrozoospermia 12.1
19 deafness-infertility syndrome 12.0
20 spermatogenic failure 6 11.9
21 spermatogenic failure 7 11.9
22 spermatogenic failure 17 11.9
23 deafness, autosomal recessive 32, with or without immotile sperm 11.5
24 spermatogenic failure, x-linked, 2 11.4
25 young syndrome 11.1
26 spermatogenic failure 13 11.1
27 spermatogenic failure 16 11.1
28 spermatogenic failure 18 11.1
29 spermatogenic failure 21 11.1
30 spermatogenic failure 2 11.0
31 spermatogenic failure 1 11.0
32 spermatogenic failure, y-linked, 1 11.0
33 spermatogenic failure 3 11.0
34 spermatogenic failure 8 11.0
35 spermatogenic failure 10 11.0
36 ciliary dyskinesia, primary, 18 11.0
37 spermatogenic failure 11 11.0
38 spermatogenic failure 12 11.0
39 ciliary dyskinesia, primary, 22 11.0
40 spermatogenic failure 14 11.0
41 glucocorticoid resistance, generalized 11.0
42 ciliary dyskinesia, primary, 34 11.0
43 spermatogenic failure 19 11.0
44 spermatogenic failure 20 11.0
45 spermatogenic failure 30 11.0
46 spermatogenic failure 31 11.0
47 spermatogenic failure 32 11.0
48 y chromosome infertility 11.0
49 mthfr gene variant 11.0
50 varicocele 10.5

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



Diseases related to Male Infertility

Symptoms & Phenotypes for Male Infertility

UMLS symptoms related to Male Infertility:


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

Drugs & Therapeutics for Male Infertility

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

(show top 50) (show all 238)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4 657-24-9 14219 4091
2
Sodium Citrate Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 68-04-2
3
leucovorin Approved Phase 4,Phase 3,Phase 2,Not Applicable 58-05-9 6006 143
4
Tocopherol Approved, Investigational Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 1406-66-2 14986
5
Zinc Approved, Investigational Phase 4,Phase 2,Not Applicable 7440-66-6 32051
6
Selenium Approved, Investigational, Vet_approved Phase 4,Phase 2,Not Applicable 7782-49-2
7
Hydroxocobalamin Approved Phase 4,Not Applicable 13422-51-0 11953898 15589840
8
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
9
Norepinephrine Approved Phase 4 51-41-2 439260
10
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
11
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 59-30-3 6037
12
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
13
Calcium Approved, Nutraceutical Phase 4,Phase 2,Phase 3,Not Applicable 7440-70-2 271
14
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 77-92-9 311
15
Vitamin C Approved, Nutraceutical Phase 4,Phase 2,Not Applicable,Early Phase 1 50-81-7 5785 54670067
16
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 4,Not Applicable 303-98-0 5281915
17
Cyanocobalamin Approved, Nutraceutical Phase 4,Not Applicable 68-19-9 44176380
18
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 59-02-9 14985
19
Ginseng Approved, Investigational, Nutraceutical Phase 4,Not Applicable 50647-08-0
20
Enclomiphene Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 15690-57-0
21 Tocotrienol Investigational Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 6829-55-6
22
Cobalamin Experimental Phase 4,Not Applicable 13408-78-1 6857388
23 Micronutrients Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
24 Antioxidants Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
25 Trace Elements Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
26 Follicle Stimulating Hormone Phase 4,Phase 3,Phase 2,Not Applicable
27 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
28 Central Nervous System Depressants Phase 4,Phase 2,Not Applicable
29 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
30 Vitamin B9 Phase 4,Phase 3,Phase 2,Not Applicable
31 Protective Agents Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
32 Vitamins Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
33 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
34 Folate Phase 4,Phase 3,Phase 2,Not Applicable
35 Nutrients Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
36 Vitamin B Complex Phase 4,Phase 3,Phase 2,Not Applicable
37 Estrogen Receptor Modulators Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
38 Anticoagulants Phase 4,Phase 3,Phase 2,Not Applicable
39 Citrate Phase 4,Phase 3,Phase 2,Not Applicable
40 Clomiphene Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
41 Estrogens Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
42 Insulin, Globin Zinc Phase 4,Not Applicable
43 Fertility Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
44 Chorionic Gonadotropin Phase 4,Phase 2,Not Applicable
45 Estrogen Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
46 Calcium, Dietary Phase 4,Phase 2,Phase 3,Not Applicable
47 Estrogen Receptor Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
48 Hypoglycemic Agents Phase 4,Not Applicable
49 insulin Phase 4,Not Applicable
50 Zuclomiphene Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 182)
# 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 Clinical Research on Effectiveness and Safety of Treatment of Severe Oligospermia or Azoospermia With uFSH Unknown status NCT02307994 Phase 4 75IU uFSH
6 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)
7 Effects of Korean Red Ginseng on Male Infertility Completed NCT02202382 Phase 4 Korean Red Ginseng, Varicocelectomy;Placebo
8 Severe LH Suppressed Patients After Administration of a GnRH Antagonist Completed NCT01936077 Phase 4 Recombinant LH (Luveris)
9 Comparison of Outcomes of Two Approaches in Microsurgical Varicocelectomy in Chinese Infertile Males: A Prospective Randomized, Controlled Trial Completed NCT01463787 Phase 4
10 Effect of Treatment With Myo-inositol on Human Semen Parameters in Patients Undergoing In Vitro Fertilization Cycles Completed NCT01560065 Phase 4
11 Oxidative Stress In Semen And Male Infertility Recruiting NCT03464656 Phase 4 Fairhaven Pro for men
12 Post-operative Pain Control of Testicular Sperm Extraction Using Liposomal Bupivacaine Recruiting NCT03802864 Phase 4 Liposomal Bupivacaine;Standard Bupivacaine
13 Impact of Duloxetine on Male Fertility Recruiting NCT03038867 Phase 4 Duloxetine
14 Anti-oxidative Influence From Pomegranate Tablets on Male Sperm Quality in Couples Undergo Infertility Treatments Due to Male Infertility. Unknown status NCT01918163 Phase 3
15 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
16 FSH Treatment for Non-obstructive Azoospermic Patients Unknown status NCT02275169 Phase 3 Urofollitropin
17 7 NUTS Study. Diet Modification and Male Fertility. Unknown status NCT02063256 Phase 2, Phase 3
18 Spermotrend in the Treatment of Male Infertility Completed NCT00975117 Phase 3
19 Impact of Folates in the Care of the Male Infertility Completed NCT01407432 Phase 3 Folic acid;placebo of folic acid
20 Vitamin D Supplementation and Male Infertility: The CBG-study a Randomized Clinical Trial Completed NCT01304927 Phase 2, Phase 3 Cholecalciferol and calcium
21 FSH Receptor Polymorphism p.N680S and Efficacy of FSH Therapy Completed NCT02349945 Phase 2, Phase 3 follitropin alpha
22 Menevit Study: Menevit Anti-Oxidant Therapy for the Treatment of Male Infertility Completed NCT00100269 Phase 3 Menevit anti-oxidant
23 Herbal Tonic Fertile Supplement(ZO2C5) Completed NCT01895816 Phase 3
24 Effect of Letrozole on Seminal Parameters in Men With Non Obstructive Azoospermia and Severe Oligozoospermia. Completed NCT02900105 Phase 3 Letrozole
25 Combination Chemotherapy in Treating Young Patients With Hodgkin's Lymphoma Completed NCT00433459 Phase 3 cyclophosphamide;dacarbazine;prednisolone;prednisone;procarbazine hydrochloride;vincristine sulfate
26 Single Dose Intravesical Apaziquone Postoperative in Patients Undergoing TURBT for Noninvasive Bladder Cancer (SPI-612) Completed NCT00598806 Phase 3 Apaziquone;Placebo
27 The Effects of Administration of Combined Docosahexaenoic Acid and Vitamin E Supplements on Spermatogram and Seminal Plasma Oxidative Stress in Infertile Men With Asthenozoospermia Completed NCT01846325 Phase 2, Phase 3
28 Myo-inositol on Human Semen Parameters Completed NCT01828710 Phase 2, Phase 3
29 Androgen for Leydig Cell Proliferation Completed NCT01206270 Phase 2, Phase 3 Testosterone undecanoate;Castor Oil
30 Effect of Walnuts on Sperm Parameters and Male Fertility Recruiting NCT01954498 Phase 2, Phase 3
31 Sperm Selection by Microfluidic Separation Improves Embryo Quality in Patients With a History of Poor Embryo Quality Recruiting NCT03085433 Phase 3
32 GnRH Agonist at Embryo Transfer: IVF Outcomes Not yet recruiting NCT03544073 Phase 3 Saline Solution for Injection;Leuprolide Acetate
33 Interest of Clomiphene Citrate in Patients With Non-obstructive Azoospermia on the Quantity of Sperm Cells Not yet recruiting NCT03615547 Phase 3 Clomifene Citrate
34 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
35 Aromatase Inhibitors in the Treatment of Male Infertility Terminated NCT00440180 Phase 3 Anastrozole;Placebo
36 Efficacy and Safety of Multi-Instillations of Apaziquone in Patients With Non-Muscle Invasive Bladder Cancer Terminated NCT01410565 Phase 3 Apaziquone;Placebo
37 Androxal in Male Infertility Withdrawn NCT02160704 Phase 2, Phase 3 Enclomiphene citrate
38 MSCs For Treatment of Azoospermic Patients Unknown status NCT02025270 Phase 1, Phase 2
39 GnRHa Combined With hCG and hMG for Treatment of Patients With Non-obstructive Azoospermia Unknown status NCT02544191 Phase 2 GnRHa/ hCG/ hMG
40 Testicular Injection of Autologous Stem Cells for Treatment of Patients With Azoospermia Unknown status NCT02041910 Phase 1, Phase 2
41 Males, Antioxidants, and Infertility Trial Completed NCT02421887 Phase 2 Antioxidant Supplement
42 TNFSF11 Inhibition and Fertility: a Prospective Study Completed NCT02422108 Phase 2 Denosumab
43 Clomiphene Citrate for the Treatment of Low Testosterone Associated With Chronic Opioid Pain Medication Administration Completed NCT01880086 Phase 2 Clomiphene citrate;Placebo
44 The Effect and Safety of Lisinopril in Non-hypertensive Men With Infertility From Low Sperm Count Completed NCT01409837 Phase 2 Lisinopril
45 Impact of Escitalopram on Sperm DNA Fragmentation Completed NCT03527043 Phase 2 Escitalopram
46 The Effect of Oral Zinc Supplementation on Thiol Oxido-reductive Index Completed NCT02985905 Phase 2
47 A Clinical Trial to Study the Safety and Efficacy of Chandrakanthi Choornam in Patients With Low Sperm Count Completed NCT02234206 Phase 2 Chandrakanthi Choornam (CKC)
48 Study of the Effect of Oral Zinc Supplementation on Superoxide Radical Scavengers Completed NCT02217189 Phase 2
49 Clomiphene Citrate for the Treatment of Obesity Related Male Hypogonadism Completed NCT02380755 Phase 2 Clomiphene Citrate;Placebo
50 Intra-Testicular Transplantation of Autologous Stem Cells for Treatment of Non-Obstructive Azoospermia Male Infertility. Recruiting NCT02641769 Phase 1, Phase 2

Search NIH Clinical Center for Male Infertility

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: infertility, male

Genetic Tests for Male Infertility

Genetic tests related to Male Infertility:

# Genetic test Affiliating Genes
1 Male Infertility 30

Anatomical Context for Male Infertility

MalaCards organs/tissues related to Male Infertility:

42
Testes, Testis, Prostate, Spinal Cord, Liver, Bone, Pituitary
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

Publications for Male Infertility

Articles related to Male Infertility:

(show top 50) (show all 2483)
# Title Authors Year
1
An In-Depth Bibliometric Analysis and Current Perspective on Male infertility Research. ( 30799564 )
2019
2
The Association of PON1 192 Q/R Polymorphism with the Risk of Idiopathic Male Infertility in Northern Iran. ( 30800254 )
2019
3
The relevance of MTHFR C677T, A1298C, and MTRR A66G polymorphisms with response to male infertility in Asians: A meta-analysis. ( 30813130 )
2019
4
Non-Robertsonian translocations involving chromosomes 13, 14, or 15 in male infertility: 28 cases and a review of the literature. ( 30817623 )
2019
5
Evaluation of sperm DNA fragmentation using multiple methods: a comparison of their predictive power for male infertility. ( 30827073 )
2019
6
Sildenafil's impact on male infertility: what has changed in 20 years? ( 30837720 )
2019
7
Synthetic phenolic antioxidant propyl gallate induces male infertility through disruption of calcium homeostasis and mitochondrial function. ( 30856500 )
2019
8
Systematic review of the monogenetic causes of male infertility: the first step towards diagnostic gene panels in the andrology clinic. ( 30865269 )
2019
9
A systematic review and standardized clinical validity assessment of male infertility genes. ( 30865283 )
2019
10
Genetic causes of male infertility: snapshot on morphological abnormalities of the sperm flagellum. ( 30867909 )
2019
11
A novel homozygous FBXO43 mutation associated with male infertility and teratozoospermia in a consanguineous Chinese family. ( 30878252 )
2019
12
Detection of Polymorphisms in MTHFD1 G1958A and Its Possible Association with Idiopathic Male Infertility. ( 30882176 )
2019
13
Genetic investigations on causes of male infertility in Western Saudi Arabia. ( 30907014 )
2019
14
Brief report: Male infertility, active component, U.S. Armed Forces, 2013-2017. ( 30912665 )
2019
15
MicroRNAs: Recent insights towards their role in male infertility and reproductive cancers. ( 30599090 )
2019
16
Male infertility problems of patients with strict sperm morphology between 5-14% may be missed with the current WHO guidelines. ( 30602328 )
2019
17
Male infertility: establishing sperm aneuploidy thresholds in the laboratory. ( 30604135 )
2019
18
Erratum to: The treatment effect of novel hGHRH homodimer to male infertility hamster. ( 30627014 )
2019
19
BMP4 circulating levels and promoter (rs17563) polymorphism in risk prediction of idiopathic male infertility. ( 30628543 )
2019
20
A novel copy number variation in CATSPER2 causes idiopathic male infertility with normal semen parameters. ( 30629171 )
2019
21
Loss of the deglutamylase CCP5 perturbs multiple steps of spermatogenesis and leads to male infertility. ( 30635446 )
2019
22
Traditional Chinese Medicine as a Remedy for Male Infertility: A Review. ( 30644235 )
2019
23
Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella. ( 30683861 )
2019
24
Combined proteomic and miRNome analyses of mouse testis exposed to an endocrine disruptors chemicals mixture reveals altered toxicological pathways involved in male infertility. ( 30698749 )
2019
25
Empiric Medical and Nutritional Therapy for Idiopathic Male Infertility: How Good Is the Evidence for What Works and Does Not? ( 30711332 )
2019
26
Introduction: Surgical treatment of male infertility: a state-of-the-art overview. ( 30722940 )
2019
27
Glutathione-S-transferases M1/T1 gene polymorphisms and male infertility risk in Chinese populations: A meta-analysis. ( 30732132 )
2019
28
Protective effect of estrogen receptor α-PvuII transition against idiopathic male infertility: A case-control study and meta-analysis. ( 30738766 )
2019
29
XRCC1 deficiency correlates with increased DNA damage and male infertility. ( 30744807 )
2019
30
The relationship between cannabis and male infertility, sexual health, and neoplasm: a systematic review. ( 30767424 )
2019
31
Lack of androgen receptor SUMOylation results in male infertility due to epididymal dysfunction. ( 30770815 )
2019
32
Possible Mechanisms for The Effects of Calcium Deficiency on Male Infertility. ( 30291684 )
2019
33
Biallelic mutations of CFAP251 cause sperm flagellar defects and human male infertility. ( 30310178 )
2019
34
SNPs in ERCC1, ERCC2, and XRCC1 genes of the DNA repair pathway and risk of male infertility in the Asian populations: association study, meta-analysis, and trial sequential analysis. ( 30390177 )
2019
35
Do men with normal testosterone-oestradiol ratios benefit from letrozole for the treatment of male infertility? ( 30449700 )
2019
36
Relationship between cadmium content in semen and male infertility: a meta-analysis. ( 30460654 )
2019
37
Editorial Comment from Dr Miyamoto to Male infertility in Sertoli cell-only syndrome: An investigation of autosomal gene defects. ( 30478860 )
2019
38
Male infertility in Sertoli cell-only syndrome: An investigation of autosomal gene defects. ( 30478911 )
2019
39
Editorial Comment from Dr Kuroda to Male infertility in Sertoli cell-only syndrome: An investigation of autosomal gene defects. ( 30479014 )
2019
40
A homozygous RNF220 mutation leads to male infertility with small-headed sperm. ( 30500349 )
2019
41
Correction: A homozygous FANCM frameshift pathogenic variant causes male infertility. ( 30158692 )
2019
42
Nationwide survey of urological specialists regarding male infertility: results from a 2015 questionnaire in Japan. ( 29371820 )
2018
43
Sirtuins in gamete biology and reproductive physiology: emerging roles and therapeutic potential in female and male infertility. ( 29447380 )
2018
44
Changes in practice patterns in male infertility cases in the United States: the trend toward subspecialization. ( 29980267 )
2018
45
Role of Withania somnifera (Ashwagandha) in the management of male infertility. ( 29277366 )
2018
46
Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human. ( 29449551 )
2018
47
IL-1E9 C376A Transversion Variant and Risk of Idiopathic Male Infertility in Iranian Men: A Genetic Association Study. ( 29935069 )
2018
48
Point-of-care whole-exome sequencing of idiopathic male infertility. ( 29790874 )
2018
49
Deletion of DDB1- and CUL4- associated factor-17 (Dcaf17) gene causes spermatogenesis defects and male infertility in mice. ( 29907856 )
2018
50
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

Variations for Male Infertility

ClinVar genetic disease variations for Male Infertility:

6 (show top 50) (show all 95)
# 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 46;XY;t(20;22)(q13.3;q11.2) Translocation Uncertain significance
4 46;XY;t(12;14)(q15;q13)mat Translocation Uncertain significance
5 46;XY;t(7;12)(q21;q21)dn Translocation Uncertain significance
6 CATSPER1 NM_053054.3(CATSPER1): c.*124_*125delAG deletion Uncertain significance rs764701805 GRCh38 Chromosome 11, 66016765: 66016766
7 CATSPER1 NM_053054.3(CATSPER1): c.*124_*125delAG deletion Uncertain significance rs764701805 GRCh37 Chromosome 11, 65784236: 65784237
8 CATSPER1 NM_053054.3(CATSPER1): c.*23G> A single nucleotide variant Uncertain significance rs373009756 GRCh38 Chromosome 11, 66016867: 66016867
9 CATSPER1 NM_053054.3(CATSPER1): c.*23G> A single nucleotide variant Uncertain significance rs373009756 GRCh37 Chromosome 11, 65784338: 65784338
10 CATSPER1 NM_053054.3(CATSPER1): c.2109G> A (p.Thr703=) single nucleotide variant Uncertain significance rs139275824 GRCh38 Chromosome 11, 66020156: 66020156
11 CATSPER1 NM_053054.3(CATSPER1): c.2109G> A (p.Thr703=) single nucleotide variant Uncertain significance rs139275824 GRCh37 Chromosome 11, 65787627: 65787627
12 CATSPER1 NM_053054.3(CATSPER1): c.1748T> G (p.Ile583Ser) single nucleotide variant Uncertain significance rs760223439 GRCh38 Chromosome 11, 66021129: 66021129
13 CATSPER1 NM_053054.3(CATSPER1): c.1748T> G (p.Ile583Ser) single nucleotide variant Uncertain significance rs760223439 GRCh37 Chromosome 11, 65788600: 65788600
14 CATSPER1 NM_053054.3(CATSPER1): c.1544-6C> T single nucleotide variant Uncertain significance rs147398525 GRCh38 Chromosome 11, 66021649: 66021649
15 CATSPER1 NM_053054.3(CATSPER1): c.1544-6C> T single nucleotide variant Uncertain significance rs147398525 GRCh37 Chromosome 11, 65789120: 65789120
16 CATSPER1 NM_053054.3(CATSPER1): c.1544-10G> A single nucleotide variant Uncertain significance rs764182570 GRCh38 Chromosome 11, 66021653: 66021653
17 CATSPER1 NM_053054.3(CATSPER1): c.1544-10G> A single nucleotide variant Uncertain significance rs764182570 GRCh37 Chromosome 11, 65789124: 65789124
18 CATSPER1 NM_053054.3(CATSPER1): c.1384G> A (p.Val462Ile) single nucleotide variant Uncertain significance rs768194764 GRCh38 Chromosome 11, 66022894: 66022894
19 CATSPER1 NM_053054.3(CATSPER1): c.1384G> A (p.Val462Ile) single nucleotide variant Uncertain significance rs768194764 GRCh37 Chromosome 11, 65790365: 65790365
20 CATSPER1 NM_053054.3(CATSPER1): c.1195G> A (p.Gly399Arg) single nucleotide variant Uncertain significance rs886048522 GRCh38 Chromosome 11, 66025185: 66025185
21 CATSPER1 NM_053054.3(CATSPER1): c.1195G> A (p.Gly399Arg) single nucleotide variant Uncertain significance rs886048522 GRCh37 Chromosome 11, 65792656: 65792656
22 CATSPER1 NM_053054.3(CATSPER1): c.1069C> T (p.Arg357Trp) single nucleotide variant Uncertain significance rs764233008 GRCh38 Chromosome 11, 66025311: 66025311
23 CATSPER1 NM_053054.3(CATSPER1): c.1069C> T (p.Arg357Trp) single nucleotide variant Uncertain significance rs764233008 GRCh37 Chromosome 11, 65792782: 65792782
24 CATSPER1 NM_053054.3(CATSPER1): c.813T> C (p.Asp271=) single nucleotide variant Uncertain significance rs371489713 GRCh37 Chromosome 11, 65793038: 65793038
25 CATSPER1 NM_053054.3(CATSPER1): c.813T> C (p.Asp271=) single nucleotide variant Uncertain significance rs371489713 GRCh38 Chromosome 11, 66025567: 66025567
26 CATSPER1 NM_053054.3(CATSPER1): c.504C> T (p.His168=) single nucleotide variant Uncertain significance rs886048523 GRCh37 Chromosome 11, 65793347: 65793347
27 CATSPER1 NM_053054.3(CATSPER1): c.504C> T (p.His168=) single nucleotide variant Uncertain significance rs886048523 GRCh38 Chromosome 11, 66025876: 66025876
28 CATSPER1 NM_053054.3(CATSPER1): c.333C> T (p.Tyr111=) single nucleotide variant Uncertain significance rs575875557 GRCh37 Chromosome 11, 65793518: 65793518
29 CATSPER1 NM_053054.3(CATSPER1): c.333C> T (p.Tyr111=) single nucleotide variant Uncertain significance rs575875557 GRCh38 Chromosome 11, 66026047: 66026047
30 CATSPER1 NM_053054.3(CATSPER1): c.-23delG deletion Uncertain significance rs886048524 GRCh37 Chromosome 11, 65793873: 65793873
31 CATSPER1 NM_053054.3(CATSPER1): c.-23delG deletion Uncertain significance rs886048524 GRCh38 Chromosome 11, 66026402: 66026402
32 CATSPER1 NM_053054.3(CATSPER1): c.2126-13T> C single nucleotide variant Uncertain significance rs369959435 GRCh38 Chromosome 11, 66018915: 66018915
33 CATSPER1 NM_053054.3(CATSPER1): c.2126-13T> C single nucleotide variant Uncertain significance rs369959435 GRCh37 Chromosome 11, 65786386: 65786386
34 CATSPER1 NM_053054.3(CATSPER1): c.2070C> T (p.Ala690=) single nucleotide variant Likely benign rs3829937 GRCh38 Chromosome 11, 66020195: 66020195
35 CATSPER1 NM_053054.3(CATSPER1): c.2070C> T (p.Ala690=) single nucleotide variant Likely benign rs3829937 GRCh37 Chromosome 11, 65787666: 65787666
36 CATSPER1 NM_053054.3(CATSPER1): c.2064+6G> A single nucleotide variant Uncertain significance rs143930161 GRCh38 Chromosome 11, 66020311: 66020311
37 CATSPER1 NM_053054.3(CATSPER1): c.2064+6G> A single nucleotide variant Uncertain significance rs143930161 GRCh37 Chromosome 11, 65787782: 65787782
38 CATSPER1 NM_053054.3(CATSPER1): c.1954G> A (p.Val652Ile) single nucleotide variant Benign rs3814747 GRCh38 Chromosome 11, 66020601: 66020601
39 CATSPER1 NM_053054.3(CATSPER1): c.1954G> A (p.Val652Ile) single nucleotide variant Benign rs3814747 GRCh37 Chromosome 11, 65788072: 65788072
40 CATSPER1 NM_053054.3(CATSPER1): c.1542G> A (p.Leu514=) single nucleotide variant Uncertain significance rs886048520 GRCh38 Chromosome 11, 66021767: 66021767
41 CATSPER1 NM_053054.3(CATSPER1): c.1542G> A (p.Leu514=) single nucleotide variant Uncertain significance rs886048520 GRCh37 Chromosome 11, 65789238: 65789238
42 CATSPER1 NM_053054.3(CATSPER1): c.1444G> A (p.Ala482Thr) single nucleotide variant Uncertain significance rs886048521 GRCh38 Chromosome 11, 66021865: 66021865
43 CATSPER1 NM_053054.3(CATSPER1): c.1444G> A (p.Ala482Thr) single nucleotide variant Uncertain significance rs886048521 GRCh37 Chromosome 11, 65789336: 65789336
44 CATSPER1 NM_053054.3(CATSPER1): c.1222C> A (p.Arg408=) single nucleotide variant Likely benign rs2845570 GRCh38 Chromosome 11, 66023056: 66023056
45 CATSPER1 NM_053054.3(CATSPER1): c.1222C> A (p.Arg408=) single nucleotide variant Likely benign rs2845570 GRCh37 Chromosome 11, 65790527: 65790527
46 CATSPER1 NM_053054.3(CATSPER1): c.970C> G (p.Gln324Glu) single nucleotide variant Uncertain significance rs773285320 GRCh37 Chromosome 11, 65792881: 65792881
47 CATSPER1 NM_053054.3(CATSPER1): c.970C> G (p.Gln324Glu) single nucleotide variant Uncertain significance rs773285320 GRCh38 Chromosome 11, 66025410: 66025410
48 CATSPER1 NM_053054.3(CATSPER1): c.730G> A (p.Gly244Arg) single nucleotide variant Likely benign rs79062509 GRCh37 Chromosome 11, 65793121: 65793121
49 CATSPER1 NM_053054.3(CATSPER1): c.730G> A (p.Gly244Arg) single nucleotide variant Likely benign rs79062509 GRCh38 Chromosome 11, 66025650: 66025650
50 CATSPER1 NM_053054.3(CATSPER1): c.402G> A (p.Gly134=) single nucleotide variant Uncertain significance rs370953416 GRCh37 Chromosome 11, 65793449: 65793449

Expression for Male Infertility

Search GEO for disease gene expression data for Male Infertility.

Pathways for Male Infertility

GO Terms for Male Infertility

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

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.63 AR CFTR DAZ1 DAZ4 DAZL EPPIN
2 cilium GO:0005929 9.62 CATSPER1 CATSPER2 DNAH1 DNAJB13
3 CatSper complex GO:0036128 9.26 CATSPER1 CATSPER2
4 motile cilium GO:0031514 9.26 CATSPER1 CATSPER2 DNAH1 DNAJB13
5 nucleosome GO:0000786 8.92 H2BFWT PRM1 PRM2 TNP1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.96 BOLL CATSPER1 CATSPER2 DAZ1 DAZ4 DAZL
2 protein deubiquitination GO:0016579 9.78 AR CFTR USP26 USP9Y
3 regulation of translation GO:0006417 9.7 BOLL DAZL PIWIL1
4 flagellated sperm motility GO:0030317 9.67 CATSPER1 CATSPER2 DNAH1 TNP1
5 cell differentiation GO:0030154 9.65 BOLL CATSPER1 CATSPER2 DAZ1 DAZ4 DAZL
6 spermatid development GO:0007286 9.63 PIWIL1 PRM2 TNP1
7 germ cell development GO:0007281 9.62 BOLL DAZ1 DAZ4 DAZL
8 chromosome condensation GO:0030261 9.54 PRM1 PRM2
9 sperm capacitation GO:0048240 9.51 CATSPER2 CFTR
10 sperm-egg recognition GO:0035036 9.49 CATSPER1 CATSPER2
11 positive regulation of translational initiation GO:0045948 9.46 BOLL DAZ1 DAZ4 DAZL
12 spermatogenesis, exchange of chromosomal proteins GO:0035093 9.43 PIWIL1 TNP1
13 DNA packaging GO:0006323 9.4 PRM1 PRM2
14 spermatogenesis GO:0007283 9.4 AR BOLL CATSPER1 CATSPER2 DAZ1 DAZ4

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

# Name GO ID Score Top Affiliating Genes
1 mRNA 3'-UTR binding GO:0003730 9.46 BOLL DAZ1 DAZ4 DAZL
2 mRNA binding GO:0003729 9.35 BOLL DAZ1 DAZ4 DAZL PIWIL1
3 calcium activated cation channel activity GO:0005227 9.26 CATSPER1 CATSPER2
4 translation activator activity GO:0008494 8.92 BOLL DAZ1 DAZ4 DAZL

Sources for Male Infertility

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
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43 MedGen
45 MeSH
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47 MGI
50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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