MCID: MLN007
MIFTS: 55

Male Infertility

Categories: Endocrine diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Male Infertility

MalaCards integrated aliases for Male Infertility:

Name: Male Infertility 12 29 6 42 15 17 71 32
Infertility, Male 43 39
Infertility Male 54

Classifications:



External Ids:

Disease Ontology 12 DOID:12336
ICD9CM 34 606
MeSH 43 D007248
SNOMED-CT 67 2904007
ICD10 32 N46
UMLS 71 C0021364

Summaries for Male Infertility

MedlinePlus : 42 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 non-syndromic male infertility due to sperm motility disorder and catsper-related male infertility, 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 ARMC4 (Armadillo Repeat Containing 4). The drugs Selenium and Sodium citrate have been mentioned in the context of this disorder. Affiliated tissues include Testis, and related phenotype is reproductive system.

Wikipedia : 74 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:

Catsper1-Related Nonsyndromic Male Infertility Male Infertility Due to Obstructive Azoospermia of Genetic Origin
Rare Male Infertility Due to Adrenal Disorder of Genetic Origin Rare Male Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder of Genetic Origin
Male Infertility Due to Sperm Motility Disorder Male Infertility Due to Sperm Disorder
Male Infertility Due to Gonadal Dysgenesis or Sperm Disorder Rare Male Infertility Due to Testicular Endocrine Disorder
Rare Male Infertility Due to Adrenal Disorder Rare Male Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder
Male Infertility Due to Acephalic Spermatozoa Rare Male Infertility
Male Infertility Due to Obstructive Azoospermia Male Infertility Due to Gonadal Dysgenesis

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

(show top 50) (show all 417)
# Related Disease Score Top Affiliating Genes
1 non-syndromic male infertility due to sperm motility disorder 34.9 DNAH1 CATSPER1
2 catsper-related male infertility 34.6 CATSPER2 CATSPER1
3 rare male infertility 34.4 CLDN2 ARMC4
4 spermatogenic failure 7 34.2 CATSPER2 CATSPER1
5 spermatogenic failure 9 33.6 EPPIN CATSPER1
6 spermatogenic failure, y-linked, 2 33.3 USP9Y USP26 H2BW1 DDX3Y DAZ4 DAZ1
7 spermatogenic failure, x-linked, 1 33.3 USP26 PRM2 H2BW1 EPPIN DAZL BOLL
8 oligoasthenoteratozoospermia 33.2 TNP2 PRM2 PRM1 DAZL CATSPER2 CATSPER1
9 azoospermia 33.1 USP9Y USP26 PRM2 PRM1 PIWIL1 DDX3Y
10 y chromosome infertility 33.1 USP9Y DDX3Y DAZ1
11 oligospermia 33.0 USP26 PRM2 EPPIN DAZL CFTR AR
12 infertility 32.7 USP9Y USP26 PRM2 PRM1 PIWIL1 H2BW1
13 partial deletion of y 31.9 USP9Y DDX3Y DAZ4 DAZ1
14 cryptorchidism, unilateral or bilateral 31.4 PRM2 EPPIN DAZL CFTR AR
15 embryonal testis carcinoma 30.7 TNP2 EPPIN
16 premature ovarian failure 1 30.5 EPPIN DAZL AR
17 vaginitis 30.1 EPPIN AR
18 male infertility with teratozoospermia due to single gene mutation 12.7
19 catsper1-related nonsyndromic male infertility 12.7
20 male infertility due to obstructive azoospermia 12.7
21 male infertility due to sperm motility disorder 12.6
22 spermatogenic failure 5 12.6
23 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin 12.6
24 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder 12.6
25 male infertility with spermatogenesis disorder due to single gene mutation 12.5
26 male infertility due to obstructive azoospermia of genetic origin 12.5
27 male infertility due to gonadal dysgenesis or sperm disorder 12.5
28 rare male infertility due to adrenal disorder of genetic origin 12.5
29 male infertility due to sperm disorder 12.5
30 rare male infertility due to testicular endocrine disorder 12.5
31 rare male infertility due to adrenal disorder 12.5
32 male infertility with azoospermia or oligozoospermia due to single gene mutation 12.5
33 male infertility with spermatogenesis disorder 12.5
34 rare idiopathic male infertility 12.5
35 spermatogenic failure 6 12.5
36 deafness-infertility syndrome 12.4
37 male infertility due to gonadal dysgenesis 12.4
38 rare genetic male infertility 12.3
39 male infertility due to acephalic spermatozoa 12.3
40 spermatogenic failure 17 12.0
41 deafness, autosomal recessive 32, with or without immotile sperm 11.9
42 spermatogenic failure, x-linked, 2 11.8
43 young syndrome 11.8
44 vas deferens, congenital bilateral aplasia of 11.6
45 spermatogenic failure 18 11.6
46 spermatogenic failure 3 11.5
47 cystic fibrosis 11.5
48 spermatogenic failure, y-linked, 1 11.4
49 spermatogenic failure 2 11.4
50 spermatogenic failure 1 11.4

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

MGI Mouse Phenotypes related to Male Infertility:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 reproductive system MP:0005389 9.32 AR ARMC4 BOLL CATSPER1 CATSPER2 CFTR

Drugs & Therapeutics for Male Infertility

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
Selenium Approved, Investigational, Vet_approved Phase 4 7782-49-2
2
Sodium citrate Approved, Investigational Phase 4 68-04-2
3
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
4
Metformin Approved Phase 4 657-24-9 14219 4091
5
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
6
leucovorin Approved Phase 4 58-05-9 6006 143
7
Dimenhydrinate Approved Phase 4 523-87-5 441281
8
Cetrorelix Approved, Investigational Phase 4 120287-85-6 16129715 25074887
9
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 4 303-98-0 5281915
10
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
11
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 5785 54670067
12
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
13
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
14
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
15
Ginseng Approved, Investigational, Nutraceutical Phase 4 50647-08-0
16 Tocotrienol Investigational Phase 4 6829-55-6
17
Enclomiphene Investigational Phase 4 15690-57-0
18 Ubiquinone Phase 4
19 carnitine Phase 4
20 Citrate Phase 4
21 Tocopherols Phase 4
22 Tocotrienols Phase 4
23 Calcium, Dietary Phase 4
24 Estrogen Receptor Modulators Phase 4
25 Clomiphene Phase 4
26 Zuclomiphene Phase 4
27 Hypoglycemic Agents Phase 4
28 Chelating Agents Phase 4
29 Anticoagulants Phase 4
30 Trace Elements Phase 4
31 Vitamins Phase 4
32 Nutrients Phase 4
33 Micronutrients Phase 4
34 Protective Agents Phase 4
35 Anesthetics, Local Phase 4
36 Vitamin B Complex Phase 4
37 Folate Phase 4
38 Vitamin B9 Phase 4
39 Hematinics Phase 4
40 Hormone Antagonists Phase 4
41 Viscosupplements Phase 4
42 Adjuvants, Immunologic Phase 4
43 Pharmaceutical Solutions Phase 4
44 Progestins Phase 4
45
Calcium Nutraceutical Phase 4 7440-70-2 271
46
Arginine Investigational, Nutraceutical Phase 4 74-79-3 6322
47
Testosterone enanthate Approved Phase 3 315-37-7 9416
48
Testosterone undecanoate Approved, Investigational Phase 3 5949-44-0
49
Methyltestosterone Approved Phase 3 58-18-4 6010
50
Indomethacin Approved, Investigational Phase 2, Phase 3 53-86-1 3715

Interventional clinical trials:

(show top 50) (show all 200)
# Name Status NCT ID Phase Drugs
1 Role of FSHR Polymorphism p.N680S in the Therapy With FSH in Patients Who Underwent Varicocele Surgery Unknown status NCT02719093 Phase 4 recombinant FSH
2 Oxidative Stress In Semen And Male Infertility Unknown status NCT03464656 Phase 4 Fairhaven Pro for men
3 Improving Oocyte Retrieval Using a Combined Therapy of Recombinant Follicle Stimulating Hormone (rFSH) and Inositol and Melatonin Unknown status NCT01267604 Phase 4 Recombinant FSH (rFSH)
4 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
5 Metformin for the Treatment of Unexplained Oligozspermia and Azoospermia Unknown status NCT01529177 Phase 4 Metformin / clomid / hCG;Clomiphene citrate / hCG
6 Post-operative Pain Control of Testicular Sperm Extraction Using Liposomal Bupivacaine Completed NCT03802864 Phase 4 Liposomal Bupivacaine;Standard Bupivacaine
7 Effects of Korean Red Ginseng on Male Infertility Completed NCT02202382 Phase 4 Korean Red Ginseng, Varicocelectomy;Placebo
8 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)
9 Evaluation of Sperm Selection Technique Using Hyaluronic Acid Binding in Intra-cytoplasmic Sperm Injection (ICSI) Completed NCT03999372 Phase 4
10 To Define the Individual Need of Exogenous LH During Ovarian Stimulation for Severe LH Suppressed Patients After Administration of a GnRH Antagonist Completed NCT01936077 Phase 4 Recombinant LH (Luveris)
11 Effect of Treatment With Myo-inositol on Human Semen Parameters in Patients Undergoing In Vitro Fertilization Cycles Completed NCT01560065 Phase 4
12 Comparison of Outcomes of Two Approaches in Microsurgical Varicocelectomy in Chinese Infertile Males: A Prospective Randomized, Controlled Trial Completed NCT01463787 Phase 4
13 Efficacy of Growth Hormone Supplementation With Gonadotrophins in IVF/ICSI for Poor Responders; a Randomized Controlled Trial Completed NCT03759301 Phase 4 Growth Hormones Somatropin Recombinant;Placebo saline solution
14 Comparison of Oral Dydrogesterone Versus Micronized Vaginal Progesterone for Luteal Phase Support in Frozen-thawed Embryo Transfer Cycles: a Randomized Controlled Trial Recruiting NCT04124913 Phase 4 Dydrogesterone 10 MG Oral Tablet;Progesterone Vaginal Gel [Crinone]
15 Anti-oxidative Influence From Pomegranate Tablets on Male Sperm Quality in Couples Undergo Infertility Treatments Due to Male Infertility. Unknown status NCT01918163 Phase 3
16 Effect of Red and White Bahman on Semen Parameters,Testosteron ,LH, FSH and Defragmentation of DNA . A Double Blind Randomised Clinical Trial (Phase 3) Unknown status NCT02998593 Phase 3 Bahman capsules;Placebo
17 7 NUTS Study . A Randomized Dietary Intervention Trial on the Influence of Diet on Human Sperm Quality in Subfertile Men. Unknown status NCT02063256 Phase 2, Phase 3
18 Follicle-stimulating Hormone Treatment for Infertile Male Patients With Non-obstructive Azoospermia: a Multicenter Randomized Clinical Trial Unknown status NCT02275169 Phase 3 Urofollitropin
19 Role of Indomethacin in Cases of Difficult Embryo Transfer in Intra Cytoplasmic Sperm Injection Cycles Unknown status NCT02642601 Phase 2, Phase 3 Indomethacin(KAHIRA PHARMA&CHEM,IND,CO.CAIRO-EGYPT)
20 Assessment of the Efficacy of Dietary Supplement Spermotrend in the Treatment of Male Infertility Completed NCT00975117 Phase 3
21 A Randomized Control Trial of the Menevit Anti-Oxidant Therapy for the Treatment of Male Infertility Completed NCT00100269 Phase 3 Menevit anti-oxidant
22 Impact of Folates in the Care of the Male Infertility Completed NCT01407432 Phase 3 Folic acid;placebo of folic acid
23 Phase 3 of Study on Effects of New Herbal Mixture on Men Infertility Completed NCT01895816 Phase 3
24 Significance of the FSH Receptor Polymorphism p.N680S for the Efficacy of FSH Therapy of Idiopathic Male Infertility: a Pharmacogenetic Approach Completed NCT02349945 Phase 2, Phase 3 follitropin alpha
25 Vitamin D Supplementation and Male Infertility: The Copenhagen Bone-Gonadal Study a Double Blinded Randomized Clinical Trial Completed NCT01304927 Phase 2, Phase 3 Cholecalciferol and calcium
26 Effect of Letrozole on Seminal Parameters in Men With Non Obstructive Azoospermia and Severe Oligozoospermia. Completed NCT02900105 Phase 3 Letrozole
27 A Clinical Study to Assess the Effectiveness of Homeopathic Treatment in Female Infertility Completed NCT02175498 Phase 3 Homoeopathic medicines
28 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
29 The Role of Aromatase Inhibitors in the Treatment of Infertility in Obese Male Terminated NCT00440180 Phase 3 Anastrozole;Placebo
30 PHASE 2b RANDOMIZED, PARALLEL, DOUBLE-BLIND, PLACEBO-CONTROLLED EXPLORATORY STUDY TO EVALUATE THE EFFICACY OF ANDROXAL IN IDIOPATHIC MALE INFERTILITY (PROTOCOL #01-14-40-08) Withdrawn NCT02160704 Phase 2, Phase 3 Enclomiphene citrate
31 Does a GnRH Agonist Given at Embryo Transfer Improve Clinical Pregnancy and Live Birth Rates of Women Undergoing In-Vitro Fertilization? Withdrawn NCT03544073 Phase 3 Saline Solution for Injection;Leuprolide Acetate
32 Using of Bone Marrow Derived Mesenchymal Stem Cells For Treatment of Azoospermic Patients Unknown status NCT02025270 Phase 1, Phase 2
33 GnRHa Combined With hCG and hMG for Treatment of Patients With Non-obstructive Azoospermia: A Single-center Prospective Study in China Unknown status NCT02544191 Phase 2 GnRHa/ hCG/ hMG
34 Testicular Injection of Autologous Human Bone Marrow Derived Stem Cells for Treatment of Patients With Azoospermia Unknown status NCT02041910 Phase 1, Phase 2
35 Males, Antioxidants, and Infertility (MOXI) Trial Completed NCT02421887 Phase 2 Antioxidant Supplement
36 A Pilot Trial of 13-cis Retinoic Acid (Isotretinoin) for the Treatment of Men With Azoospermia Completed NCT03323801 Phase 2 13-cis retinoic acid
37 A Pilot Trial of 13-cis Retinoic Acid (Isotretinoin) for the Treatment of Men With Oligoasthenoteratozoospermia Completed NCT02061384 Phase 2 13-cis retinoic acid;Calcitriol
38 Clomiphene Citrate for the Treatment of Opioid-Induced Androgen Deficiency: Randomized Controlled Clinical Trial Completed NCT01880086 Phase 2 Clomiphene citrate;Placebo
39 Impact of Duloxetine on Male Fertility Completed NCT03038867 Phase 2 Duloxetine;Placebo
40 Clomiphene Citrate for the Treatment of Obesity Related Male Hypogonadism: Metabolic and Cardiovascular Effects. Completed NCT02380755 Phase 2 Clomiphene Citrate;Placebo
41 Denosumab and Male Infertility: a Prospective Intervention Study Completed NCT02422108 Phase 2 Denosumab
42 Benefits of Walnuts for Male Reproductive Health Completed NCT01505140 Phase 2
43 A 5-year Prospective, Placebo-controlled, Crossover Evaluation of the Efficacy and Tolerability of Low-dose Lisinopril in Normotensives With Idiopathic Oligospermic Infertility Completed NCT01409837 Phase 2 Lisinopril
44 Intra-Testicular Transplantation of Purified Autologous Clusters of Differentiation (CD) 34+,133+, and Mesenchymal Stem Cells for Treatment of Non-Obstructive Azoospermia Male Infertility. Recruiting NCT02641769 Phase 1, Phase 2
45 A Phase II, Multicenter, Open Label Study of Treatment Intensification With ACVD and Brentuximab-Vedotin in Advanced-stage Hodgkin Lymphoma Patients With a Positive Interim PET Scan After 2 ABVD Cycles Recruiting NCT03527628 Phase 2 Adriamycin;Cyclophosphamide;Vinblastine;Dacarbazine;Brentuximab Vedotin;ABVD
46 Assessing the Impact of Escitalopram on Sperm DNA Fragmentation: A Randomized Placebo Controlled Active, not recruiting NCT03527043 Phase 2 Escitalopram
47 Denosumab and Male Infertility: a Randomized Controlled Double-blinded Intervention Study Active, not recruiting NCT03030196 Phase 2 Denosumab
48 Efficiency Evaluation of Adipose-Derived Adult Stromal Vascular Cells in Patients With Spermatogenesis Disorders. Enrolling by invitation NCT03762967 Phase 2 Standard therapy.
49 Pharmacodynamics and Safety of Human Recombinant Luteinising Hormone in Hypogonadotropic Hypogonadal Men Not yet recruiting NCT04189133 Phase 2 Lutropin alfa;Human chorionic gonadotropin
50 Using Nimodipine, a Calcium Channel Blocker, to Prevent the LH Surge and Ovulation in Women Undergoing Assisted Reproduction Terminated NCT01551368 Phase 2 Nimodipine;Placebo

Search NIH Clinical Center for Male Infertility

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Clomiphene
Clomiphene Citrate

Cochrane evidence based reviews: infertility, male

Genetic Tests for Male Infertility

Genetic tests related to Male Infertility:

# Genetic test Affiliating Genes
1 Male Infertility 29

Anatomical Context for Male Infertility

MalaCards organs/tissues related to Male Infertility:

40
Testis, Testes, Prostate, Bone, Spinal Cord, Kidney, Thyroid
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 9003)
# Title Authors PMID Year
1
Male Infertility and the Future of In Vitro Fertilization. 42 61
32272997 2020
2
Association between polymorphisms in the XRCC1 gene and male infertility risk: A meta-analysis. 61 42
32358378 2020
3
Prediction of microdissection testicular sperm extraction outcome in men with idiopathic nonobstruction azoospermia. 42
32358364 2020
4
The SLC19A1 80G>A polymorphism is not associated with male infertility. 54 61
20233025 2010
5
[Azoospermia factor and male infertility]. 61 54
20369704 2010
6
Follicle-stimulating hormone receptor gene haplotypes and male infertility in estonian population and meta-analysis. 54 61
20170288 2010
7
[MTHFR gene polymorphism and male infertility]. 61 54
20180408 2010
8
FSHR single nucleotide polymorphism frequencies in proven fathers and infertile men in Southeast Turkey. 54 61
20454649 2010
9
New Strategy of Functional Analysis of PHGPx Knockout Mice Model Using Transgenic Rescue Method and Cre-LoxP System. 54 61
20104259 2010
10
CAG repeat variation in the mtDNA polymerase gamma is not associated with oligoasthenozoospermia. 61 54
18798765 2009
11
Absence of the exon 1 coding sequence of the androgen receptor gene associated with teratozoospermia in a Brazilian population. 61 54
19937586 2009
12
Depletion of selenoprotein GPx4 in spermatocytes causes male infertility in mice. 61 54
19783653 2009
13
TSPY1 copy number variation influences spermatogenesis and shows differences among Y lineages. 61 54
19773397 2009
14
[Association of male infertility with (CAG)n polymorphism of the androgen receptor gene: a meta-analysis]. 61 54
19947564 2009
15
MTHFR promoter hypermethylation in testicular biopsies of patients with non-obstructive azoospermia: the role of epigenetics in male infertility. 54 61
19477879 2009
16
Use of the aromatase inhibitor letrozole to treat male infertility. 54 61
19524225 2009
17
Estrogen receptor beta gene mutations in Indian infertile men. 61 54
19509112 2009
18
Posttranscriptional regulation of CDC25A by BOLL is a conserved fertility mechanism essential for human spermatogenesis. 61 54
19417033 2009
19
A386G polymorphism of the DAZL gene is not associated with idiopathic male infertility in North India. 54 61
19881148 2009
20
Androgen receptor roles in spermatogenesis and fertility: lessons from testicular cell-specific androgen receptor knockout mice. 61 54
19176467 2009
21
Inhibition of androgen receptor transcriptional activity as a novel mechanism of action of arsenic. 61 54
19131511 2009
22
CA repeat and RsaI polymorphisms in ERbeta gene are not associated with infertility in Indian men. 54 61
17916182 2009
23
[The investigation of the relationship between the phenotypes of 46, XX males and the SRY gene]. 61 54
19199262 2009
24
[Update of the studies on epididymal oxidative stress]. 54 61
19323379 2009
25
USP26 gene variations in fertile and infertile men. 54 61
18927127 2009
26
Single nucleotide polymorphism analysis of the follicle-stimulating hormone (FSH) receptor in Japanese with male infertility: identification of codon combination with heterozygous variations of the two discrete FSH receptor gene. 61 54
19550076 2009
27
Massive deletion in AZFb/b+c and azoospermia with Sertoli cell only and/or maturation arrest. 54 61
17877719 2008
28
The contribution of different androgen receptor domains to receptor dimerization and signaling. 61 54
18617596 2008
29
Animal models of chronic lung infection with Pseudomonas aeruginosa: useful tools for cystic fibrosis studies. 61 54
18782827 2008
30
Sequence analysis of the X-linked USP26 gene in severe male factor infertility patients and fertile controls. 61 54
18377898 2008
31
[Genetic causes of male infertility]. 54 61
19004117 2008
32
Androgen receptor gene haplotype is associated with male infertility. 61 54
17651405 2008
33
The AZF proteins. 54 61
18462373 2008
34
Androgen insensitivity syndrome: clinical features and molecular defects. 61 54
18694860 2008
35
Molecular analysis of mutations and polymorphisms in the CFTR gene in male infertility. 61 54
18616886 2008
36
Genetic diagnosis in infertile men with numerical and constitutional sperm abnormalities. 54 61
18554162 2008
37
Detailed functional studies on androgen receptor mild mutations demonstrate their association with male infertility. 61 54
17970778 2008
38
[Molecular cytogenetic studies of 25 males with azoospermia]. 61 54
18393244 2008
39
Identification of new breakpoints in AZFb and AZFc. 54 61
18326547 2008
40
A386G transition in DAZL gene is not associated with spermatogenic failure in Tamil Nadu, South India. 54 61
20300286 2008
41
Screening of 'Y' chromosome microdeletions in Iranian infertile males. 54 61
19562056 2008
42
Male infertility and variation in CAG repeat length in the androgen receptor gene: a meta-analysis. 61 54
17684052 2007
43
Novel mutations in ubiquitin-specific protease 26 gene might cause spermatogenesis impairment and male infertility. 61 54
17968467 2007
44
[Screening for the microdeletions of azoospermia factor on the Y chromosome in male infertile patients from Guangzhou]. 54 61
17922428 2007
45
Selenium in mammalian spermiogenesis. 54 61
17937612 2007
46
[The analysis of CFTR mutations in men with azoospermia, oligozoospermia and asthenozoospermia]. 54 61
18050608 2007
47
[Autosomal DAZL single nucleotide polymorphisms not associated with male infertility in northeast China]. 61 54
17918711 2007
48
Reversal of idiopathic hypogonadotropic hypogonadism. 54 61
17761590 2007
49
Cystic fibrosis transmembrane conductance regulator is vital to sperm fertilizing capacity and male fertility. 61 54
17519339 2007
50
TSPY gene copy number as a potential new risk factor for male infertility. 54 61
17509197 2007

Variations for Male Infertility

ClinVar genetic disease variations for Male Infertility:

6 (show all 28) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 covers 25 genes, none of which curated to show dosage sensitivity GRCh37/hg19 Yq11.223-11.23(chrY:23887108-28799937)x0copy number loss Pathogenic 870515 Y:23887108-28799937
2 covers 16 genes, none of which curated to show dosage sensitivity GRCh37/hg19 Yq11.223-11.23(chrY:24770884-28355431)x0copy number loss Pathogenic 870518 Y:24770884-28355431
3 covers 41 genes, none of which curated to show dosage sensitivity GRCh37/hg19 Yq11.221-11.23(chrY:18546605-28799937)x0copy number loss Pathogenic 870519 Y:18546605-28799937
4 covers 40 genes, none of which curated to show dosage sensitivity GRCh37/hg19 Yq11.222-11.23(chrY:20111978-28423925)x0copy number loss Pathogenic 870520 Y:20111978-28423925
5 covers 26 genes, none of which curated to show dosage sensitivity GRCh37/hg19 Yq11.21-11.223(chrY:14495040-24070172)x0copy number loss Pathogenic 870521 Y:14495040-24070172
6 covers 17 genes, none of which curated to show dosage sensitivity GRCh37/hg19 Yq11.223-11.23(chrY:24651462-28328263)x0copy number loss Pathogenic 870522 Y:24651462-28328263
7 DDX3Y , TTTY15 , USP9Y GRCh37/hg19 Yq11.21-11.221(chrY:14443478-15230544)x0copy number loss Pathogenic 870525 Y:14443478-15230544
8 covers 33 genes, none of which curated to show dosage sensitivity GRCh37/hg19 Yq11.222-11.23(chrY:21719615-28799937)x0copy number loss Pathogenic 870526 Y:21719615-28799937
9 covers 49 genes, none of which curated to show dosage sensitivity GRCh37/hg19 Yq11.21-11.23(chrY:13800703-28799937)x0copy number loss Pathogenic 870527 Y:13800703-28799937
10 covers 46 genes, none of which curated to show dosage sensitivity GRCh37/hg19 Yq11.221-11.23(chrY:15427283-28799937)x0copy number loss Pathogenic 870528 Y:15427283-28799937
11 CLDN2 NM_020384.4(CLDN2):c.481G>C (p.Gly161Arg)SNV Pathogenic 488651 rs1555979575 X:106171939-106171939 X:106928709-106928709
12 ARMC4 NM_018076.5(ARMC4):c.2097+1G>ASNV Pathogenic 812721 10:28228825-28228825 10:27939896-27939896
13 covers 38 genes, none of which curated to show dosage sensitivity GRCh37/hg19 Yq11.222-11.23(chrY:20608554-28799937)x0copy number loss Pathogenic 870512 Y:20608554-28799937
14 covers 17 genes, none of which curated to show dosage sensitivity GRCh37/hg19 Yq11.223-11.23(chrY:24644460-28341390)x0copy number loss Pathogenic 870513 Y:24644460-28341390
15 SOX30 NM_178424.2(SOX30):c.1550C>G (p.Ser517Cys)SNV Likely pathogenic 812722 5:157065568-157065568 5:157638560-157638560
16 ARMC4 NM_018076.5(ARMC4):c.2765G>A (p.Gly922Glu)SNV Likely pathogenic 812720 10:28151397-28151397 10:27862468-27862468
17 HOXD13 NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter)SNV Conflicting interpretations of pathogenicity 374019 rs200750564 2:176959246-176959246 2:176094518-176094518
18 MYO6 NM_004999.4(MYO6):c.3176G>C (p.Arg1059Thr)SNV Conflicting interpretations of pathogenicity 45153 rs202214380 6:76608128-76608128 6:75898411-75898411
19 46;XY;t(20;22)(q13.3;q11.2)Translocation Uncertain significance 267893
20 46;XY;t(12;14)(q15;q13)matTranslocation Uncertain significance 267936
21 46;XY;t(7;12)(q21;q21)dnTranslocation Uncertain significance 268031
22 CATSPER1 NM_053054.4(CATSPER1):c.2108C>T (p.Thr703Met)SNV Uncertain significance 305418 rs373771804 11:65787628-65787628 11:66020157-66020157
23 GRCh37/hg19 Yq11.223(chrY:23231720-23373561)x0copy number loss Uncertain significance 870514 Y:23231720-23373561
24 SYCP3 NM_001177949.2(SYCP3):c.241A>C (p.Ile81Leu)SNV Uncertain significance 869113 12:102128817-102128817 12:101735039-101735039
25 ZMYND15 NM_001136046.3(ZMYND15):c.2057+6G>TSNV Uncertain significance 812589 17:4648676-4648676 17:4745381-4745381
26 CATSPER1 NM_053054.4(CATSPER1):c.-23deldeletion Uncertain significance 305453 rs886048524 11:65793873-65793873 11:66026402-66026402
27 CATSPER1 NM_053054.4(CATSPER1):c.*122_*123AG[1]short repeat Uncertain significance 305413 rs764701805 11:65784236-65784237 11:66016765-66016766
28 CATSPER1 NM_053054.4(CATSPER1):c.-25deldeletion Likely benign 305454 rs3841469 11:65793875-65793875 11:66026404-66026404

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 nucleus GO:0005634 10.22 USP9Y USP26 TNP2 PRM2 PRM1 PIWIL1
2 cilium GO:0005929 9.67 DNAH1 CATSPER2 CATSPER1 ARMC4
3 motile cilium GO:0031514 9.5 DNAH1 CATSPER2 CATSPER1
4 protein-containing complex GO:0032991 9.43 EPPIN DAZL DAZ4 DAZ1 CFTR AR
5 P granule GO:0043186 9.26 PIWIL1 DDX3Y
6 CatSper complex GO:0036128 9.16 CATSPER2 CATSPER1
7 nucleosome GO:0000786 8.92 TNP2 PRM2 PRM1 H2BW1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.02 TNP2 PRM2 PRM1 PIWIL1 DAZL DAZ4
2 protein deubiquitination GO:0016579 9.76 USP9Y USP26 CFTR AR
3 cell differentiation GO:0030154 9.7 TNP2 PRM2 PRM1 PIWIL1 DDX3Y DAZL
4 regulation of translation GO:0006417 9.69 PIWIL1 DAZL BOLL
5 flagellated sperm motility GO:0030317 9.58 DNAH1 CATSPER2 CATSPER1
6 positive regulation of translational initiation GO:0045948 9.56 DAZL DAZ4 DAZ1 BOLL
7 chromosome condensation GO:0030261 9.52 PRM2 PRM1
8 sperm capacitation GO:0048240 9.49 CFTR CATSPER2
9 sperm-egg recognition GO:0035036 9.48 CATSPER2 CATSPER1
10 3'-UTR-mediated mRNA stabilization GO:0070935 9.46 DAZL DAZ4 DAZ1 BOLL
11 spermatogenesis, exchange of chromosomal proteins GO:0035093 9.43 TNP2 PIWIL1
12 spermatogenesis GO:0007283 9.4 USP9Y TNP2 PRM2 PRM1 PIWIL1 DAZL
13 DNA packaging GO:0006323 9.37 PRM2 PRM1

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 DAZL DAZ4 DAZ1 BOLL
2 mRNA binding GO:0003729 9.35 PIWIL1 DAZL DAZ4 DAZ1 BOLL
3 calcium activated cation channel activity GO:0005227 9.26 CATSPER2 CATSPER1
4 translation activator activity GO:0008494 8.92 DAZL DAZ4 DAZ1 BOLL

Sources for Male Infertility

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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