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MCID: MLN007
MIFTS: 56

Male Infertility

Categories: Endocrine diseases, Rare diseases, Reproductive diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Male Infertility

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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:

MalaCards categories:
Global: Rare diseases
Anatomical: Reproductive diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:12336
ICD9CM 34 606 606.9
MeSH 43 D007248
SNOMED-CT 67 2904007
ICD10 32 N46 N46.9
UMLS 71 C0021364
Sources

Summaries for Male Infertility

About this section
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 CLDN2 (Claudin 2). The drugs Sodium citrate and Metformin 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...

Sources

Related Diseases for Male Infertility

About this section

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 439)
# Related Disease Score Top Affiliating Genes
1 non-syndromic male infertility due to sperm motility disorder 34.7 DNAH1 CATSPER1
2 catsper-related male infertility 34.5 CATSPER2 CATSPER1
3 spermatogenic failure 9 33.8 EPPIN DNAH1
4 spermatogenic failure, y-linked, 2 33.2 USP9Y DDX3Y DAZ4 DAZ1
5 y chromosome infertility 33.0 USP9Y DDX3Y DAZ1
6 oligoasthenoteratozoospermia 32.7 TNP2 PRM2 PRM1 DAZL CATSPER2 CATSPER1
7 oligospermia 32.6 USP26 PRM2 EPPIN DAZL CFTR AR
8 spermatogenic failure, x-linked, 1 32.6 USP26 TNP1 PRM2 H2BW1 EPPIN DAZL
9 azoospermia 32.0 USP9Y USP26 TNP1 PRM2 PRM1 PIWIL1
10 partial deletion of y 31.7 USP9Y DDX3Y DAZ4 DAZ1
11 infertility 31.7 USP9Y USP26 PRM2 PRM1 PIWIL1 H2BW1
12 cryptorchidism, unilateral or bilateral 31.2 PRM2 EPPIN DAZL AR
13 embryonal testis carcinoma 30.5 TNP2 EPPIN
14 epididymo-orchitis 30.5 TNP2 TNP1 DAZL
15 vaginitis 30.0 EPPIN AR
16 prostatic hypertrophy 30.0 EPPIN AR
17 male infertility with teratozoospermia due to single gene mutation 12.7
18 catsper1-related nonsyndromic male infertility 12.7
19 male infertility due to obstructive azoospermia 12.6
20 male infertility due to sperm motility disorder 12.6
21 spermatogenic failure 5 12.6
22 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin 12.5
23 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder 12.5
24 male infertility with spermatogenesis disorder due to single gene mutation 12.5
25 male infertility due to obstructive azoospermia of genetic origin 12.5
26 male infertility due to gonadal dysgenesis or sperm disorder 12.5
27 spermatogenic failure 6 12.4
28 rare male infertility due to adrenal disorder of genetic origin 12.4
29 male infertility due to sperm disorder 12.4
30 rare male infertility due to testicular endocrine disorder 12.4
31 rare male infertility due to adrenal disorder 12.4
32 male infertility with azoospermia or oligozoospermia due to single gene mutation 12.4
33 male infertility with spermatogenesis disorder 12.4
34 rare idiopathic male infertility 12.4
35 deafness-infertility syndrome 12.4
36 male infertility due to gonadal dysgenesis 12.3
37 rare genetic male infertility 12.3
38 male infertility due to acephalic spermatozoa 12.3
39 rare male infertility 12.3
40 obsolete: male infertility with normal virilization due to an acquired testicular defect associated with mycoplasma infection 12.3
41 obsolete: male infertility with normal virilization due to an acquired testicular defect 12.3
42 obsolete: male infertility with normal virilization due to an acquired testicular defect associated with drug 12.3
43 obsolete: male infertility with normal virilization due to an acquired testicular defect associated with radiation 12.3
44 obsolete: male infertility with normal virilization due to acquired testicular defect associated with autoimmunity 12.3
45 obsolete: male infertility with normal virilization due to an acquired testicular defect associated with environmental toxin 12.3
46 obsolete: male infertility with normal virilization due to testicular defect associated with spinal cord injury 12.3
47 obsolete: male infertility with normal virilization due to a systemic disease 12.3
48 obsolete: male infertility with normal virilization 12.3
49 obsolete: male infertility with impaired virilization due to a testicular disorder associated with a neurologic disease 12.3
50 obsolete: male infertility with normal virilization due to androgen administration 12.3

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



Diseases related to Male Infertility
Sources

Symptoms & Phenotypes for Male Infertility

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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 9.28 AR BOLL CATSPER1 CATSPER2 CFTR DDX3Y
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 236)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium citrate Approved, Investigational Phase 4 68-04-2
2
Metformin Approved Phase 4 657-24-9 14219 4091
3
leucovorin Approved Phase 4 58-05-9 6006 143
4
Cetrorelix Approved, Investigational Phase 4 120287-85-6 16129715 25074887
5
Selenium Approved, Investigational, Vet_approved Phase 4 7782-49-2
6
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
7
Zinc Approved, Investigational Phase 4 7440-66-6 32051
8
Hydroxocobalamin Approved Phase 4 13422-51-0 11953898 15589840
9
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
10
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
11
Dimenhydrinate Approved Phase 4 523-87-5 441281
12
Norepinephrine Approved Phase 4 51-41-2 439260
13
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
14
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
15
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
16
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
17
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
18
Ginseng Approved, Investigational, Nutraceutical Phase 4 50647-08-0
19
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 4 303-98-0 5281915
20
Cyanocobalamin Approved, Nutraceutical Phase 4 68-19-9 44176380
21
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 5785 54670067
22
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
23
Enclomiphene Investigational Phase 4 15690-57-0
24
Cobalamin Experimental Phase 4 13408-78-1 6857388
25 Tocotrienol Investigational Phase 4 6829-55-6
26 Citrate Phase 4
27 Calcium, Dietary Phase 4
28 Zuclomiphene Phase 4
29 Selective Estrogen Receptor Modulators Phase 4
30 Chelating Agents Phase 4
31 Anticoagulants Phase 4
32 Clomiphene Phase 4
33 Estrogen Receptor Modulators Phase 4
34 Hypoglycemic Agents Phase 4
35 insulin Phase 4
36 Insulin, Globin Zinc Phase 4
37 Nutrients Phase 4
38 Trace Elements Phase 4
39 Micronutrients Phase 4
40 Vitamin B Complex Phase 4
41 Vitamin B9 Phase 4
42 Folate Phase 4
43 Hormone Antagonists Phase 4
44 Hematinics Phase 4
45 Fertility Agents Phase 4
46 Pharmaceutical Solutions Phase 4
47 Vitamins Phase 4
48 Antioxidants Phase 4
49 Protective Agents Phase 4
50 Anesthetics, Local Phase 4

Interventional clinical trials:

(show top 50) (show all 188)
# 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 Metformin for the Treatment of Unexplained Oligozspermia and Azoospermia Unknown status NCT01529177 Phase 4 Metformin / clomid / hCG;Clomiphene citrate / hCG
3 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
4 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)
5 Effects of Korean Red Ginseng on Male Infertility Completed NCT02202382 Phase 4 Korean Red Ginseng, Varicocelectomy;Placebo
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 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)
8 Effect of Treatment With Myo-inositol on Human Semen Parameters in Patients Undergoing In Vitro Fertilization Cycles Completed NCT01560065 Phase 4
9 Comparison of Outcomes of Two Approaches in Microsurgical Varicocelectomy in Chinese Infertile Males: A Prospective Randomized, Controlled Trial Completed NCT01463787 Phase 4
10 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
11 Post-operative Pain Control of Testicular Sperm Extraction Using Liposomal Bupivacaine Recruiting NCT03802864 Phase 4 Liposomal Bupivacaine;Standard Bupivacaine
12 Evaluation of Sperm Selection Technique Using Hyaluronic Acid Binding in Intra-cytoplasmic Sperm Injection (ICSI) Recruiting NCT03999372 Phase 4
13 Oxidative Stress In Semen And Male Infertility Recruiting NCT03464656 Phase 4 Fairhaven Pro for men
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 Impact of Duloxetine on Male Fertility Recruiting NCT03038867 Phase 4 Duloxetine
16 Anti-oxidative Influence From Pomegranate Tablets on Male Sperm Quality in Couples Undergo Infertility Treatments Due to Male Infertility. Unknown status NCT01918163 Phase 3
17 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
18 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
19 Follicle-stimulating Hormone Treatment for Infertile Male Patients With Non-obstructive Azoospermia: a Multicenter Randomized Clinical Trial Unknown status NCT02275169 Phase 3 Urofollitropin
20 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)
21 Assessment of the Efficacy of Dietary Supplement Spermotrend in the Treatment of Male Infertility Completed NCT00975117 Phase 3
22 A Randomized Control Trial of the Menevit Anti-Oxidant Therapy for the Treatment of Male Infertility Completed NCT00100269 Phase 3 Menevit anti-oxidant
23 Impact of Folates in the Care of the Male Infertility Completed NCT01407432 Phase 3 Folic acid;placebo of folic acid
24 Phase 3 of Study on Effects of New Herbal Mixture on Men Infertility Completed NCT01895816 Phase 3
25 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
26 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
27 Effect of Letrozole on Seminal Parameters in Men With Non Obstructive Azoospermia and Severe Oligozoospermia. Completed NCT02900105 Phase 3 Letrozole
28 A Clinical Study to Assess the Effectiveness of Homeopathic Treatment in Female Infertility Completed NCT02175498 Phase 3 Homoeopathic medicines
29 Sperm Selection by Microfluidic Separation Improves Embryo Quality in Patients With a History of Poor Embryo Quality Recruiting NCT03085433 Phase 3
30 Effect of Walnuts on Sperm Parameters and Male Fertility Recruiting NCT01954498 Phase 2, Phase 3
31 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
32 The Role of Aromatase Inhibitors in the Treatment of Infertility in Obese Male Terminated NCT00440180 Phase 3 Anastrozole;Placebo
33 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
34 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
35 Using of Bone Marrow Derived Mesenchymal Stem Cells For Treatment of Azoospermic Patients Unknown status NCT02025270 Phase 1, Phase 2
36 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
37 Testicular Injection of Autologous Human Bone Marrow Derived Stem Cells for Treatment of Patients With Azoospermia Unknown status NCT02041910 Phase 1, Phase 2
38 Males, Antioxidants, and Infertility (MOXI) Trial Completed NCT02421887 Phase 2 Antioxidant Supplement
39 A Pilot Trial of 13-cis Retinoic Acid (Isotretinoin) for the Treatment of Men With Azoospermia Completed NCT03323801 Phase 2 13-cis retinoic acid
40 Clomiphene Citrate for the Treatment of Opioid-Induced Androgen Deficiency: Randomized Controlled Clinical Trial Completed NCT01880086 Phase 2 Clomiphene citrate;Placebo
41 Clomiphene Citrate for the Treatment of Obesity Related Male Hypogonadism: Metabolic and Cardiovascular Effects. Completed NCT02380755 Phase 2 Clomiphene Citrate;Placebo
42 Denosumab and Male Infertility: a Prospective Intervention Study Completed NCT02422108 Phase 2 Denosumab
43 Benefits of Walnuts for Male Reproductive Health Completed NCT01505140 Phase 2
44 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
45 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
46 Assessing the Impact of Escitalopram on Sperm DNA Fragmentation: A Randomized Placebo Controlled Recruiting NCT03527043 Phase 2 Escitalopram
47 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
48 A Pilot Trial of 13-cis Retinoic Acid (Isotretinoin) for the Treatment of Men With Oligoasthenoteratozoospermia Active, not recruiting NCT02061384 Phase 2 13-cis retinoic acid;Calcitriol
49 Denosumab and Male Infertility: a Randomized Controlled Double-blinded Intervention Study Active, not recruiting NCT03030196 Phase 2 Denosumab
50 Efficiency Evaluation of Adipose-Derived Adult Stromal Vascular Cells in Patients With Spermatogenesis Disorders. Enrolling by invitation NCT03762967 Phase 2 Standard therapy.

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

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:

40
Testis, Testes, Prostate, Pituitary, Kidney, Spinal Cord, 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
Sources

Publications for Male Infertility

About this section

Articles related to Male Infertility:

(show top 50) (show all 8702)
# Title Authors PMID Year
1
Effects of physical exercises on semen quality and reproductive outcomes in male infertility: A protocol for systematic review and meta-analysis of randomized controlled trials. 61 42
31593115 2019
2
Obstetric and perinatal outcomes of intracytoplasmic sperm injection for infertile men with Y chromosome microdeletions. 42
31593094 2019
3
Fertility maintenance in male oncological patients: current state and future perspectives. 42
31602982 2019
4
The SLC19A1 80G>A polymorphism is not associated with male infertility. 54 61
20233025 2010
5
Follicle-stimulating hormone receptor gene haplotypes and male infertility in estonian population and meta-analysis. 54 61
20170288 2010
6
[Azoospermia factor and male infertility]. 54 61
20369704 2010
7
New Strategy of Functional Analysis of PHGPx Knockout Mice Model Using Transgenic Rescue Method and Cre-LoxP System. 54 61
20104259 2010
8
FSHR single nucleotide polymorphism frequencies in proven fathers and infertile men in Southeast Turkey. 54 61
20454649 2010
9
[MTHFR gene polymorphism and male infertility]. 54 61
20180408 2010
10
CAG repeat variation in the mtDNA polymerase gamma is not associated with oligoasthenozoospermia. 54 61
18798765 2009
11
Depletion of selenoprotein GPx4 in spermatocytes causes male infertility in mice. 54 61
19783653 2009
12
Absence of the exon 1 coding sequence of the androgen receptor gene associated with teratozoospermia in a Brazilian population. 54 61
19937586 2009
13
TSPY1 copy number variation influences spermatogenesis and shows differences among Y lineages. 54 61
19773397 2009
14
[Association of male infertility with (CAG)n polymorphism of the androgen receptor gene: a meta-analysis]. 54 61
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
Estrogen receptor beta gene mutations in Indian infertile men. 54 61
19509112 2009
17
Use of the aromatase inhibitor letrozole to treat male infertility. 54 61
19524225 2009
18
Posttranscriptional regulation of CDC25A by BOLL is a conserved fertility mechanism essential for human spermatogenesis. 54 61
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. 54 61
19176467 2009
21
Inhibition of androgen receptor transcriptional activity as a novel mechanism of action of arsenic. 54 61
19131511 2009
22
CA repeat and RsaI polymorphisms in ERbeta gene are not associated with infertility in Indian men. 54 61
17916182 2009
23
[Update of the studies on epididymal oxidative stress]. 54 61
19323379 2009
24
[The investigation of the relationship between the phenotypes of 46, XX males and the SRY gene]. 54 61
19199262 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. 54 61
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. 54 61
18617596 2008
29
Animal models of chronic lung infection with Pseudomonas aeruginosa: useful tools for cystic fibrosis studies. 54 61
18782827 2008
30
Sequence analysis of the X-linked USP26 gene in severe male factor infertility patients and fertile controls. 54 61
18377898 2008
31
[Genetic causes of male infertility]. 54 61
19004117 2008
32
The AZF proteins. 54 61
18462373 2008
33
Androgen receptor gene haplotype is associated with male infertility. 54 61
17651405 2008
34
Molecular analysis of mutations and polymorphisms in the CFTR gene in male infertility. 54 61
18616886 2008
35
Androgen insensitivity syndrome: clinical features and molecular defects. 54 61
18694860 2008
36
Genetic diagnosis in infertile men with numerical and constitutional sperm abnormalities. 54 61
18554162 2008
37
[Molecular cytogenetic studies of 25 males with azoospermia]. 54 61
18393244 2008
38
Identification of new breakpoints in AZFb and AZFc. 54 61
18326547 2008
39
Detailed functional studies on androgen receptor mild mutations demonstrate their association with male infertility. 54 61
17970778 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. 54 61
17684052 2007
43
Novel mutations in ubiquitin-specific protease 26 gene might cause spermatogenesis impairment and male infertility. 54 61
17968467 2007
44
Selenium in mammalian spermiogenesis. 54 61
17937612 2007
45
[Screening for the microdeletions of azoospermia factor on the Y chromosome in male infertile patients from Guangzhou]. 54 61
17922428 2007
46
Reversal of idiopathic hypogonadotropic hypogonadism. 54 61
17761590 2007
47
[The analysis of CFTR mutations in men with azoospermia, oligozoospermia and asthenozoospermia]. 54 61
18050608 2007
48
[Autosomal DAZL single nucleotide polymorphisms not associated with male infertility in northeast China]. 54 61
17918711 2007
49
Cystic fibrosis transmembrane conductance regulator is vital to sperm fertilizing capacity and male fertility. 54 61
17519339 2007
50
TSPY gene copy number as a potential new risk factor for male infertility. 54 61
17509197 2007
Sources

Variations for Male Infertility

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ClinVar genetic disease variations for Male Infertility:

6 (show all 49) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CLDN2 NM_020384.4(CLDN2):c.481G>C (p.Gly161Arg)SNV Pathogenic 488651 rs1555979575 X:106171939-106171939 X:106928709-106928709
2 HOXD13 NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter)SNV Conflicting interpretations of pathogenicity 374019 rs200750564 2:176959246-176959246 2:176094518-176094518
3 CATSPER1 NM_053054.4(CATSPER1):c.883C>T (p.Arg295Trp)SNV Conflicting interpretations of pathogenicity 305439 rs150803613 11:65792968-65792968 11:66025497-66025497
4 CATSPER1 NM_053054.4(CATSPER1):c.1544-6C>TSNV Conflicting interpretations of pathogenicity 305424 rs147398525 11:65789120-65789120 11:66021649-66021649
5 CATSPER1 NM_053054.4(CATSPER1):c.333C>T (p.Tyr111=)SNV Conflicting interpretations of pathogenicity 305448 rs575875557 11:65793518-65793518 11:66026047-66026047
6 CATSPER1 NM_053054.4(CATSPER1):c.688C>T (p.Arg230Cys)SNV Conflicting interpretations of pathogenicity 305444 rs113202862 11:65793163-65793163 11:66025692-66025692
7 CATSPER1 NM_053054.4(CATSPER1):c.144C>T (p.His48=)SNV Conflicting interpretations of pathogenicity 305450 rs112725798 11:65793707-65793707 11:66026236-66026236
8 CATSPER1 NM_053054.4(CATSPER1):c.970C>G (p.Gln324Glu)SNV Uncertain significance 305437 rs773285320 11:65792881-65792881 11:66025410-66025410
9 CATSPER1 NM_053054.4(CATSPER1):c.2064+6G>ASNV Uncertain significance 305420 rs143930161 11:65787782-65787782 11:66020311-66020311
10 CATSPER1 NM_053054.4(CATSPER1):c.1542G>A (p.Leu514=)SNV Uncertain significance 305427 rs886048520 11:65789238-65789238 11:66021767-66021767
11 CATSPER1 NM_053054.4(CATSPER1):c.1444G>A (p.Ala482Thr)SNV Uncertain significance 305431 rs886048521 11:65789336-65789336 11:66021865-66021865
12 CATSPER1 NM_053054.4(CATSPER1):c.402G>A (p.Gly134=)SNV Uncertain significance 305446 rs370953416 11:65793449-65793449 11:66025978-66025978
13 CATSPER1 NM_053054.4(CATSPER1):c.55G>A (p.Ala19Thr)SNV Uncertain significance 305451 rs775284326 11:65793796-65793796 11:66026325-66026325
14 CATSPER1 NM_053054.4(CATSPER1):c.1884G>A (p.Thr628=)SNV Uncertain significance 305422 rs370158610 11:65788325-65788325 11:66020854-66020854
15 CATSPER1 NM_053054.4(CATSPER1):c.1445C>G (p.Ala482Gly)SNV Uncertain significance 305430 rs202004405 11:65789335-65789335 11:66021864-66021864
16 CATSPER1 NM_053054.4(CATSPER1):c.1045T>G (p.Phe349Val)SNV Uncertain significance 305436 rs754953178 11:65792806-65792806 11:66025335-66025335
17 CATSPER1 NM_053054.4(CATSPER1):c.947G>A (p.Gly316Asp)SNV Uncertain significance 305438 rs148686517 11:65792904-65792904 11:66025433-66025433
18 CATSPER1 NM_053054.4(CATSPER1):c.761G>T (p.Gly254Val)SNV Uncertain significance 305441 rs199940038 11:65793090-65793090 11:66025619-66025619
19 CATSPER1 NM_053054.4(CATSPER1):c.695A>T (p.His232Leu)SNV Uncertain significance 305443 rs149769183 11:65793156-65793156 11:66025685-66025685
20 CATSPER1 NM_053054.4(CATSPER1):c.-23deldeletion Uncertain significance 305453 rs886048524 11:65793873-65793873 11:66026402-66026402
21 CATSPER1 NM_053054.4(CATSPER1):c.2126-13T>CSNV Uncertain significance 305416 rs369959435 11:65786386-65786386 11:66018915-66018915
22 CATSPER1 NM_053054.4(CATSPER1):c.1544-10G>ASNV Uncertain significance 305425 rs764182570 11:65789124-65789124 11:66021653-66021653
23 CATSPER1 NM_053054.4(CATSPER1):c.1384G>A (p.Val462Ile)SNV Uncertain significance 305432 rs768194764 11:65790365-65790365 11:66022894-66022894
24 CATSPER1 NM_053054.4(CATSPER1):c.1195G>A (p.Gly399Arg)SNV Uncertain significance 305434 rs886048522 11:65792656-65792656 11:66025185-66025185
25 CATSPER1 NM_053054.4(CATSPER1):c.1069C>T (p.Arg357Trp)SNV Uncertain significance 305435 rs764233008 11:65792782-65792782 11:66025311-66025311
26 CATSPER1 NM_053054.4(CATSPER1):c.813T>C (p.Asp271=)SNV Uncertain significance 305440 rs371489713 11:65793038-65793038 11:66025567-66025567
27 CATSPER1 NM_053054.4(CATSPER1):c.504C>T (p.His168=)SNV Uncertain significance 305445 rs886048523 11:65793347-65793347 11:66025876-66025876
28 MYO6 NM_004999.4(MYO6):c.3176G>C (p.Arg1059Thr)SNV Uncertain significance 45153 rs202214380 6:76608128-76608128 6:75898411-75898411
29 46;XY;t(20;22)(q13.3;q11.2)Translocation Uncertain significance 267893
30 46;XY;t(12;14)(q15;q13)matTranslocation Uncertain significance 267936
31 46;XY;t(7;12)(q21;q21)dnTranslocation Uncertain significance 268031
32 CATSPER1 NM_053054.4(CATSPER1):c.*122_*123AG[1]short repeat Uncertain significance 305413 rs764701805 11:65784236-65784237 11:66016765-66016766
33 CATSPER1 NM_053054.4(CATSPER1):c.*23G>ASNV Uncertain significance 305415 rs373009756 11:65784338-65784338 11:66016867-66016867
34 CATSPER1 NM_053054.4(CATSPER1):c.2109G>A (p.Thr703=)SNV Uncertain significance 305417 rs139275824 11:65787627-65787627 11:66020156-66020156
35 CATSPER1 NM_053054.4(CATSPER1):c.1748T>G (p.Ile583Ser)SNV Uncertain significance 305423 rs760223439 11:65788600-65788600 11:66021129-66021129
36 CATSPER1 NM_053054.4(CATSPER1):c.292C>T (p.Leu98=)SNV Uncertain significance 305449 rs149064120 11:65793559-65793559 11:66026088-66026088
37 CATSPER1 NM_053054.4(CATSPER1):c.*96G>ASNV Uncertain significance 305414 rs1783566 11:65784265-65784265 11:66016794-66016794
38 CATSPER1 NM_053054.4(CATSPER1):c.2108C>T (p.Thr703Met)SNV Uncertain significance 305418 rs373771804 11:65787628-65787628 11:66020157-66020157
39 CATSPER1 NM_053054.4(CATSPER1):c.1544-11C>TSNV Uncertain significance 305426 rs567657527 11:65789125-65789125 11:66021654-66021654
40 CATSPER1 NM_053054.4(CATSPER1):c.1514C>T (p.Ser505Leu)SNV Uncertain significance 305428 rs74484098 11:65789266-65789266 11:66021795-66021795
41 CATSPER1 NM_053054.4(CATSPER1):c.54C>T (p.Asn18=)SNV Likely benign 305452 rs1893316 11:65793797-65793797 11:66026326-66026326
42 CATSPER1 NM_053054.4(CATSPER1):c.-92T>CSNV Likely benign 305455 rs947847 11:65793942-65793942 11:66026471-66026471
43 CATSPER1 NM_053054.4(CATSPER1):c.397G>A (p.Gly133Ser)SNV Likely benign 305447 rs1203998 11:65793454-65793454 11:66025983-66025983
44 CATSPER1 NM_053054.4(CATSPER1):c.2070C>T (p.Ala690=)SNV Likely benign 305419 rs3829937 11:65787666-65787666 11:66020195-66020195
45 CATSPER1 NM_053054.4(CATSPER1):c.1222C>A (p.Arg408=)SNV Likely benign 305433 rs2845570 11:65790527-65790527 11:66023056-66023056
46 CATSPER1 NM_053054.4(CATSPER1):c.730G>A (p.Gly244Arg)SNV Likely benign 305442 rs79062509 11:65793121-65793121 11:66025650-66025650
47 CATSPER1 NM_053054.4(CATSPER1):c.-25deldeletion Likely benign 305454 rs3841469 11:65793875-65793875 11:66026404-66026404
48 CATSPER1 NM_053054.4(CATSPER1):c.1467C>T (p.Cys489=)SNV Benign/Likely benign 305429 rs75366838 11:65789313-65789313 11:66021842-66021842
49 CATSPER1 NM_053054.4(CATSPER1):c.1954G>A (p.Val652Ile)SNV Benign 305421 rs3814747 11:65788072-65788072 11:66020601-66020601
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Expression for Male Infertility

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

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GO Terms for Male Infertility

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.22 USP26 TNP2 TNP1 PRM2 PRM1 PIWIL1
2 chromosome GO:0005694 9.55 TNP2 TNP1 PRM2 PRM1 H2BW1
3 motile cilium GO:0031514 9.54 DNAH1 CATSPER2 CATSPER1
4 protein-containing complex GO:0032991 9.43 EPPIN DAZL DAZ4 DAZ1 CFTR AR
5 P granule GO:0043186 9.32 PIWIL1 DDX3Y
6 CatSper complex GO:0036128 9.26 CATSPER2 CATSPER1
7 nucleosome GO:0000786 8.92 TNP1 PRM2 PRM1 H2BW1

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.9 TNP2 TNP1 PRM2 PRM1 PIWIL1 DAZL
2 protein deubiquitination GO:0016579 9.8 USP9Y USP26 CFTR AR
3 flagellated sperm motility GO:0030317 9.73 TNP1 DNAH1 CATSPER2 CATSPER1
4 cell differentiation GO:0030154 9.73 TNP2 TNP1 PRM2 PRM1 PIWIL1 DDX3Y
5 regulation of translation GO:0006417 9.72 PIWIL1 DAZL BOLL
6 germ cell development GO:0007281 9.67 DAZL DAZ4 DAZ1 BOLL
7 spermatid development GO:0007286 9.65 TNP1 PRM2 PIWIL1
8 3'-UTR-mediated mRNA stabilization GO:0070935 9.62 DAZL DAZ4 DAZ1 BOLL
9 spermatogenesis, exchange of chromosomal proteins GO:0035093 9.58 TNP2 TNP1 PIWIL1
10 chromosome condensation GO:0030261 9.56 PRM2 PRM1
11 positive regulation of translational initiation GO:0045948 9.56 DAZL DAZ4 DAZ1 BOLL
12 sperm capacitation GO:0048240 9.54 CFTR CATSPER2
13 sperm-egg recognition GO:0035036 9.52 CATSPER2 CATSPER1
14 positive regulation of protein processing GO:0010954 9.51 TNP2 TNP1
15 DNA packaging GO:0006323 9.46 PRM2 PRM1
16 spermatogenesis GO:0007283 9.44 USP9Y TNP2 TNP1 PRM2 PRM1 PIWIL1

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
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Sources for Male Infertility

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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
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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