MCID: MLN007
MIFTS: 59

Male Infertility

Categories: Endocrine diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Male Infertility

MalaCards integrated aliases for Male Infertility:

Name: Male Infertility 11 28 5 41 14 16 71 75 31 33
Infertility, Male 43 38
Absolute Infertility 33
Infertility Male 53
Male Sterility 33

Classifications:



External Ids:

Disease Ontology 11 DOID:12336
ICD9CM 34 606
MeSH 43 D007248
SNOMED-CT 68 155924001
ICD10 31 N46
UMLS 71 C0021364

Summaries for Male Infertility

MedlinePlus: 41 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 infertility and azoospermia, 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 FKBP6 (FKBP Prolyl Isomerase Family Member 6 (Inactive)), and among its related pathways/superpathways are Translational Control and Male infertility. The drugs Dydrogesterone and Progesterone have been mentioned in the context of this disorder. Affiliated tissues include Testis, and related phenotypes are endocrine/exocrine gland and reproductive system

Wikipedia: 75 Male infertility refers to a sexually mature male's inability to impregnate a fertile female. In humans... more...

Related Diseases for Male Infertility

Diseases in the Male Infertility family:

Male Infertility Due to Acephalic Spermatozoa 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 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 613)
# Related Disease Score Top Affiliating Genes
1 infertility 33.4 USP26 SEMG1 PRM2 PRM1 PIWIL1 H2BW1
2 azoospermia 33.3 USP26 PRM2 PRM1 PIWIL1 HORMAD1 GALNTL5
3 spermatogenic failure 9 33.3 PRM2 GALNTL5 EPPIN
4 vas deferens, congenital bilateral aplasia of 32.9 USP26 PRM2 CFTR
5 spermatogenic failure, x-linked, 1 32.8 USP26 PRM2 EPPIN DAZL BOLL
6 oligospermia 32.7 USP26 PRM2 HOXD13 EPPIN DAZL DAZ4
7 partial deletion of y 32.7 DAZ4 DAZ1
8 spermatogenic failure 32.6 DAZL DAZ4 DAZ1
9 spermatogenic failure, y-linked, 2 32.5 H2BW1 DAZL DAZ4 DAZ1 CFTR BOLL
10 oligoasthenoteratozoospermia 32.5 PRM2 PRM1
11 cryptorchidism, unilateral or bilateral 31.8 PRM2 FSHR EPPIN DAZL CFTR
12 prostatic cyst 30.8 FSHR EPPIN
13 embryonal testis carcinoma 30.6 EPPIN DAZL
14 kartagener syndrome 30.5 ODAD2 DNAH5 CFTR
15 disorder of sexual development 30.3 FSHR EPPIN DAZL
16 spermatogenic failure 5 11.8
17 deafness-infertility syndrome 11.8
18 catsper1-related nonsyndromic male infertility 11.6
19 male infertility with teratozoospermia due to single gene mutation 11.6
20 non-syndromic male infertility due to sperm motility disorder 11.6
21 spermatogenic failure 6 11.6
22 heterotaxy, visceral, 10, autosomal, with male infertility 11.6
23 heterotaxy, visceral, 11, autosomal, with male infertility 11.6
24 heterotaxy, visceral, 9, autosomal, with male infertility 11.5
25 male infertility due to acephalic spermatozoa 11.5
26 male infertility with azoospermia or oligozoospermia due to single gene mutation 11.5
27 male infertility due to obstructive azoospermia 11.4
28 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin 11.4
29 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder 11.4
30 spermatogenic failure 7 11.4
31 spermatogenic failure 17 11.4
32 male infertility due to sperm motility disorder 11.3
33 male infertility with spermatogenesis disorder 11.3
34 catsper-related male infertility 11.3
35 male infertility with spermatogenesis disorder due to single gene mutation 11.3
36 male infertility due to obstructive azoospermia of genetic origin 11.3
37 male infertility due to gonadal dysgenesis or sperm disorder 11.3
38 spermatogenic failure, x-linked, 2 11.3
39 male infertility due to gonadal dysgenesis 11.3
40 spermatogenic failure 56 11.3
41 spermatogenic failure 61 11.3
42 spermatogenic failure 64 11.3
43 spermatogenic failure 54 11.2
44 spermatogenic failure 55 11.2
45 spermatogenic failure 57 11.2
46 spermatogenic failure 59 11.2
47 spermatogenic failure 60 11.2
48 spermatogenic failure 62 11.2
49 spermatogenic failure 63 11.2
50 spermatogenic failure 65 11.2

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

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.19 BOLL CFTR CLDN2 DAZ1 DAZ4 DAZL
2 no effect GR00402-S-2 10.19 BOLL CFTR DAZ1 DAZ4 DAZL DNAH5

MGI Mouse Phenotypes related to Male Infertility:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.77 BOLL CFTR DAZ1 DAZ4 DAZL DNAH5
2 reproductive system MP:0005389 9.55 BOLL CFTR DAZ1 DAZ4 DAZL EPPIN

Drugs & Therapeutics for Male Infertility

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

(show top 50) (show all 170)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dydrogesterone Approved, Investigational, Withdrawn Phase 4 152-62-5 9051
2
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
3
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
4
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
5
Polyestradiol phosphate Approved Phase 4 28014-46-2
6
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
7
Dimenhydrinate Approved Phase 4 523-87-5 10660
8
Arginine Approved, Investigational, Nutraceutical Phase 4 74-79-3 6322
9 Hormones Phase 4
10 Hormone Antagonists Phase 4
11 Protective Agents Phase 4
12 Estrogens Phase 4
13 Estrogen Receptor Antagonists Phase 4
14 Estrogen Antagonists Phase 4
15 Anesthetics, Local Phase 4
16 Estradiol 3-benzoate Phase 4
17 Estradiol 17 beta-cypionate Phase 4
18 Immunologic Factors Phase 4
19 Progestins Phase 4
20 Adjuvants, Immunologic Phase 4
21 Viscosupplements Phase 4
22 Contraceptive Agents Phase 4
23 Aromatase Inhibitors Phase 4
24
Ginseng Investigational, Nutraceutical Phase 4 50647-08-0
25
Methyltestosterone Approved Phase 3 58-18-4 6010
26
Testosterone undecanoate Approved, Investigational Phase 3 5949-44-0 21873174 65157
27
Testosterone enanthate Approved Phase 3 315-37-7 9416
28
Ginger Approved Phase 3
29
Sofosbuvir Approved Phase 2, Phase 3 1190307-88-0 45375808
30
Simeprevir Approved Phase 2, Phase 3 923604-59-5 66811198 24873435 66576988
31
Ribavirin Approved Phase 2, Phase 3 36791-04-5 37542
32
Cholecalciferol Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 67-97-0, 1406-16-2 5280795 10883523
33
Calcifediol Approved, Nutraceutical Phase 2, Phase 3 19356-17-3 5283731
34 Testosterone 17 beta-cypionate Phase 3
35 Follicle Stimulating Hormone Phase 2, Phase 3
36 Calciferol Phase 2, Phase 3
37 Calcium, Dietary Phase 2, Phase 3
38 Hematinics Phase 3
39 Anti-Infective Agents Phase 2, Phase 3
40 HIV Protease Inhibitors Phase 2, Phase 3
41
protease inhibitors Phase 2, Phase 3
42 Antimetabolites Phase 2, Phase 3
43 Antiviral Agents Phase 2, Phase 3
44
Calcium Nutraceutical Phase 2, Phase 3 7440-70-2 271
45
Selenium Approved, Investigational, Vet_approved Phase 2 7783-07-5, 7782-49-2 533
46
Lycopene Approved, Investigational Phase 2 502-65-8 446925
47
Duloxetine Approved Phase 2 136434-34-9, 116539-59-4 60835
48
Dopamine Approved Phase 2 62-31-7, 51-61-6 681
49
Norepinephrine Approved Phase 2 51-41-2 439260
50
Calcium polycarbophil Approved Phase 2 126040-58-2

Interventional clinical trials:

(show top 50) (show all 174)
# Name Status NCT ID Phase Drugs
1 Oxidative Stress In Semen And Male Infertility Unknown status NCT03464656 Phase 4 Fairhaven Pro for men
2 Comparison of Oral Dydrogesterone Versus Micronized Vaginal Progesterone for Luteal Phase Support in Frozen-thawed Embryo Transfer Cycles: a Randomized Controlled Trial Unknown status NCT04124913 Phase 4 Dydrogesterone 10 MG Oral Tablet;Progesterone Vaginal Gel [Crinone]
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 Effects of Korean Red Ginseng on Male Infertility Completed NCT02202382 Phase 4 Korean Red Ginseng, Varicocelectomy;Placebo
5 Effects of Korean Red Ginseng on Semen Parameters in Male Infertility Patients: a Randomized, Placebo-controlled, Double-blind Clinical Study Completed NCT02204826 Phase 4 Korean Red Ginseng (KRG)
6 Post-operative Pain Control of Testicular Sperm Extraction Using Liposomal Bupivacaine Completed NCT03802864 Phase 4 Liposomal Bupivacaine;Standard Bupivacaine
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 Evaluation of Sperm Selection Technique Using Hyaluronic Acid Binding in Intra-cytoplasmic Sperm Injection (ICSI) Completed NCT03999372 Phase 4
9 A Randomized Controlled Study to Compare the Outcome of Two Protocols Used to Prepare the Endometrium for Frozen Embryo Transfer Completed NCT04507022 Phase 4 Estradiol Valerate;Progesterone;Aromatase inhibitor
10 Anti-oxidative Influence From Pomegranate Tablets on Male Sperm Quality in Couples Undergo Infertility Treatments Due to Male Infertility. Unknown status NCT01918163 Phase 3
11 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
12 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
13 Assessment of the Efficacy of Dietary Supplement Spermotrend in the Treatment of Male Infertility Completed NCT00975117 Phase 3
14 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
15 A Randomized Control Trial of the Menevit Anti-Oxidant Therapy for the Treatment of Male Infertility Completed NCT00100269 Phase 3 Menevit anti-oxidant
16 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
17 Impact of Folates in the Care of the Male Infertility Completed NCT01407432 Phase 3 Folic acid;placebo of folic acid
18 Phase 3 of Study on Effects of New Herbal Mixture on Men Infertility Completed NCT01895816 Phase 3
19 Effect of New Oral Treatment for Hepatitis C Virus on Seminal Parameters Recruiting NCT05616598 Phase 2, Phase 3 Sofosbuvir +daclatasvir+ simeprevir+Ribavirin
20 The Effectiveness of the Spermotrend Food Supplement in the Treatment of Male Infertility and Benign Prostatic Hyperplasia Active, not recruiting NCT05222841 Phase 2, Phase 3
21 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
22 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
23 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
24 Intra-Testicular Transplantation of Purified Autologous Clusters of Differentiation (CD) 34+,133+, and Mesenchymal Stem Cells for Treatment of Non-Obstructive Azoospermia Male Infertility. Unknown status NCT02641769 Phase 1, Phase 2
25 Using of Bone Marrow Derived Mesenchymal Stem Cells For Treatment of Azoospermic Patients Unknown status NCT02025270 Phase 1, Phase 2
26 Denosumab and Male Infertility: a Prospective Intervention Study Completed NCT02422108 Phase 2 Denosumab
27 A Pilot Trial of 13-cis Retinoic Acid (Isotretinoin) for the Treatment of Men With Azoospermia Completed NCT03323801 Phase 2 13-cis retinoic acid
28 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
29 Clomiphene Citrate for the Treatment of Opioid-Induced Androgen Deficiency: Randomized Controlled Clinical Trial Completed NCT01880086 Phase 2 Clomiphene citrate;Placebo
30 Males, Antioxidants, and Infertility (MOXI) Trial Completed NCT02421887 Phase 2 Antioxidant Supplement
31 Impact of Duloxetine on Male Fertility Completed NCT03038867 Phase 2 Duloxetine;Placebo
32 The Therapeutic Effects of Bu Shen Yi Jing Pill on Semen Quality in Sub Fertile Males: a Randomized Controlled Trial Recruiting NCT05290558 Phase 2 Bu Shen Yi Jing Pill;Placebo Drug
33 Comparison of the Efficacy of the Tamoxifen and Tamoxifen With Antioxidants on Semen Quality of Infertile Male With Abnormal Semen Parameters. Recruiting NCT05200663 Phase 2 Tab Tamoxifen 10 mg;Tab Tamoxifen 10mg,Cap vitamin E 400mg
34 Assessing the Impact of Escitalopram on Sperm DNA Fragmentation: A Randomized Placebo Controlled Recruiting NCT03527043 Phase 2 Escitalopram
35 Effect of a Single-dose Denosumab on Semen Quality in Infertile Men (FITMI): A Randomized Controlled Trial Recruiting NCT05212337 Phase 2 Denosumab;Sodium chloride
36 Denosumab and Male Infertility: a Randomized Controlled Double-blinded Intervention Study Active, not recruiting NCT03030196 Phase 2 Denosumab
37 Employing a Single Step Media Can Improve the Clinical Outcomes in Those Patient Who Usually Show an High Cycle Cancellation Rate? Unknown status NCT02575924 Phase 1 sequential medium;1-step medium
38 Choline Dehydrogenase and Sperm Function: Effects of Betaine Completed NCT02122211 Phase 1 Betaine supplement
39 A Pilot Study to Evaluate the Effect of Pomegranate Juice on Semen Parameters in Healthy Male Volunteers Completed NCT01595308 Phase 1
40 Can Yeast Cells Emulate Vitamin E on In-vitro Protection of Human Spermatozoa Against Oxidative Stress? Completed NCT02814695 Phase 1
41 Omega-3 Polyunsaturated Fatty Acids for the Treatment of Patients With Idiopathic Oligoasthenoteratospermia: A Double-blind, Placebo-controlled and Randomized Exploratory Clinical Trial Recruiting NCT03634644 Phase 1 Omega 3 fatty acid;Placebo oral capsule
42 Role of Nutritional Support in Idiopathic Male Infertility: a Randomized Dietary Study Unknown status NCT03588949
43 Proposed Research Protocol For Male Infertility Unknown status NCT01255397
44 Modern Analyses of the Semen in Evaluating Male Fertility and Treatment Options of Male Infertility Unknown status NCT02932865
45 Treatment of Severe Male Infertility - Predictive Factors (Imaging) Unknown status NCT02931721
46 Can Myo-inositol in Combination With N-Acetyl-Cysteine Plus an Antioxidant Mix be Useful for the Management of Men Affected by Idiopathic Infertility and Semen Hyperviscosity? Unknown status NCT03726450
47 Epigenetic and Genetic Effects in Cancer Patients: Analysis Pre and After Treatment Unknown status NCT04200118
48 Oxidative Stress, Vitamin E and Lipidomics in Seminal Fluid as Potential Link to Infertility Unknown status NCT02062229
49 Evaluation of Treatment With Trans-resveratrol, Folic Acid, Vitamin D, Vitamin B12 and B6 in Men With Infertility Unknown status NCT03864198
50 Relationship Between Nitric Oxide (NO) in Follicular Fluid and Sperm Fertilization Ability Unknown status NCT03307655

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 28

Anatomical Context for Male Infertility

Organs/tissues related to Male Infertility:

MalaCards : Testis, Bone Marrow, Testes, Liver, Bone, Spinal Cord, Prostate
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 14470)
# Title Authors PMID Year
1
Transcriptome analyses in infertile men reveal germ cell-specific expression and splicing patterns. 62 41
36446526 2023
2
Safety and efficacy of acupuncture for varicocele-induced male infertility: a systematic review protocol. 62 41
36456023 2022
3
Does severe hypoxia during irradiation of Aedes aegypti pupae improve sterile male performance? 62 41
36443811 2022
4
DJ-1 is critical for mitochondrial function and rescues PINK1 loss of function. 53 62
20457924 2010
5
The SLC19A1 80G>A polymorphism is not associated with male infertility. 53 62
20233025 2010
6
Follicle-stimulating hormone receptor gene haplotypes and male infertility in estonian population and meta-analysis. 53 62
20170288 2010
7
[Azoospermia factor and male infertility]. 53 62
20369704 2010
8
[MTHFR gene polymorphism and male infertility]. 53 62
20180408 2010
9
FSHR single nucleotide polymorphism frequencies in proven fathers and infertile men in Southeast Turkey. 53 62
20454649 2010
10
New Strategy of Functional Analysis of PHGPx Knockout Mice Model Using Transgenic Rescue Method and Cre-LoxP System. 53 62
20104259 2010
11
CAG repeat variation in the mtDNA polymerase gamma is not associated with oligoasthenozoospermia. 53 62
18798765 2009
12
Depletion of selenoprotein GPx4 in spermatocytes causes male infertility in mice. 53 62
19783653 2009
13
Absence of the exon 1 coding sequence of the androgen receptor gene associated with teratozoospermia in a Brazilian population. 53 62
19937586 2009
14
TSPY1 copy number variation influences spermatogenesis and shows differences among Y lineages. 53 62
19773397 2009
15
[Association of male infertility with (CAG)n polymorphism of the androgen receptor gene: a meta-analysis]. 53 62
19947564 2009
16
MTHFR promoter hypermethylation in testicular biopsies of patients with non-obstructive azoospermia: the role of epigenetics in male infertility. 53 62
19477879 2009
17
Use of the aromatase inhibitor letrozole to treat male infertility. 53 62
19524225 2009
18
Estrogen receptor beta gene mutations in Indian infertile men. 53 62
19509112 2009
19
A386G polymorphism of the DAZL gene is not associated with idiopathic male infertility in North India. 53 62
19881148 2009
20
Posttranscriptional regulation of CDC25A by BOLL is a conserved fertility mechanism essential for human spermatogenesis. 53 62
19417033 2009
21
Androgen receptor roles in spermatogenesis and fertility: lessons from testicular cell-specific androgen receptor knockout mice. 53 62
19176467 2009
22
Inhibition of androgen receptor transcriptional activity as a novel mechanism of action of arsenic. 53 62
19131511 2009
23
[The investigation of the relationship between the phenotypes of 46, XX males and the SRY gene]. 53 62
19199262 2009
24
USP26 gene variations in fertile and infertile men. 53 62
18927127 2009
25
CA repeat and RsaI polymorphisms in ERbeta gene are not associated with infertility in Indian men. 53 62
17916182 2009
26
[Update of the studies on epididymal oxidative stress]. 53 62
19323379 2009
27
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. 53 62
19550076 2009
28
Massive deletion in AZFb/b+c and azoospermia with Sertoli cell only and/or maturation arrest. 53 62
17877719 2008
29
The contribution of different androgen receptor domains to receptor dimerization and signaling. 53 62
18617596 2008
30
Animal models of chronic lung infection with Pseudomonas aeruginosa: useful tools for cystic fibrosis studies. 53 62
18782827 2008
31
[Genetic causes of male infertility]. 53 62
19004117 2008
32
Sequence analysis of the X-linked USP26 gene in severe male factor infertility patients and fertile controls. 53 62
18377898 2008
33
The AZF proteins. 53 62
18462373 2008
34
Androgen receptor gene haplotype is associated with male infertility. 53 62
17651405 2008
35
Androgen insensitivity syndrome: clinical features and molecular defects. 53 62
18694860 2008
36
Molecular analysis of mutations and polymorphisms in the CFTR gene in male infertility. 53 62
18616886 2008
37
Genetic diagnosis in infertile men with numerical and constitutional sperm abnormalities. 53 62
18554162 2008
38
Detailed functional studies on androgen receptor mild mutations demonstrate their association with male infertility. 53 62
17970778 2008
39
Identification of new breakpoints in AZFb and AZFc. 53 62
18326547 2008
40
[Molecular cytogenetic studies of 25 males with azoospermia]. 53 62
18393244 2008
41
Screening of 'Y' chromosome microdeletions in Iranian infertile males. 53 62
19562056 2008
42
A386G transition in DAZL gene is not associated with spermatogenic failure in Tamil Nadu, South India. 53 62
20300286 2008
43
Novel mutations in ubiquitin-specific protease 26 gene might cause spermatogenesis impairment and male infertility. 53 62
17968467 2007
44
Male infertility and variation in CAG repeat length in the androgen receptor gene: a meta-analysis. 53 62
17684052 2007
45
Structural diversity and evolution of the Rf-1 locus in the genus Oryza. 53 62
17622268 2007
46
[Screening for the microdeletions of azoospermia factor on the Y chromosome in male infertile patients from Guangzhou]. 53 62
17922428 2007
47
Selenium in mammalian spermiogenesis. 53 62
17937612 2007
48
[Autosomal DAZL single nucleotide polymorphisms not associated with male infertility in northeast China]. 53 62
17918711 2007
49
Reversal of idiopathic hypogonadotropic hypogonadism. 53 62
17761590 2007
50
[The analysis of CFTR mutations in men with azoospermia, oligozoospermia and asthenozoospermia]. 53 62
18050608 2007

Variations for Male Infertility

ClinVar genetic disease variations for Male Infertility:

5 (show top 50) (show all 52)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 38 genes GRCh37/hg19 Yq11.222-11.23(chrY:20608554-28799937)x0 CN LOSS Pathogenic
870512 GRCh37: Y:20608554-28799937
GRCh38:
2 overlap with 17 genes GRCh37/hg19 Yq11.223-11.23(chrY:24644460-28341390)x0 CN LOSS Pathogenic
870513 GRCh37: Y:24644460-28341390
GRCh38:
3 overlap with 25 genes GRCh37/hg19 Yq11.223-11.23(chrY:23887108-28799937)x0 CN LOSS Pathogenic
870515 GRCh37: Y:23887108-28799937
GRCh38:
4 overlap with 16 genes GRCh37/hg19 Yq11.223-11.23(chrY:24770884-28355431)x0 CN LOSS Pathogenic
870518 GRCh37: Y:24770884-28355431
GRCh38:
5 overlap with 39 genes GRCh37/hg19 Yq11.221-11.23(chrY:18546605-28799937)x0 CN LOSS Pathogenic
870519 GRCh37: Y:18546605-28799937
GRCh38:
6 overlap with 39 genes GRCh37/hg19 Yq11.222-11.23(chrY:20111978-28423925)x0 CN LOSS Pathogenic
870520 GRCh37: Y:20111978-28423925
GRCh38:
7 overlap with 24 genes GRCh37/hg19 Yq11.21-11.223(chrY:14495040-24070172)x0 CN LOSS Pathogenic
870521 GRCh37: Y:14495040-24070172
GRCh38:
8 overlap with 17 genes GRCh37/hg19 Yq11.223-11.23(chrY:24651462-28328263)x0 CN LOSS Pathogenic
870522 GRCh37: Y:24651462-28328263
GRCh38:
9 overlap with 3 genes GRCh37/hg19 Yq11.21-11.221(chrY:14443478-15230544)x0 CN LOSS Pathogenic
870525 GRCh37: Y:14443478-15230544
GRCh38:
10 overlap with 33 genes GRCh37/hg19 Yq11.222-11.23(chrY:21719615-28799937)x0 CN LOSS Pathogenic
870526 GRCh37: Y:21719615-28799937
GRCh38:
11 overlap with 47 genes GRCh37/hg19 Yq11.21-11.23(chrY:13800703-28799937)x0 CN LOSS Pathogenic
870527 GRCh37: Y:13800703-28799937
GRCh38:
12 overlap with 44 genes GRCh37/hg19 Yq11.221-11.23(chrY:15427283-28799937)x0 CN LOSS Pathogenic
870528 GRCh37: Y:15427283-28799937
GRCh38:
13 CLDN2 NM_020384.4(CLDN2):c.481G>C (p.Gly161Arg) SNV Pathogenic
488651 rs1555979575 GRCh37: X:106171939-106171939
GRCh38: X:106928709-106928709
14 HOXD13 NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter) SNV Pathogenic
374019 rs200750564 GRCh37: 2:176959246-176959246
GRCh38: 2:176094518-176094518
15 DNAH5 NM_001369.3(DNAH5):c.5557A>T (p.Lys1853Ter) SNV Pathogenic
220581 rs748618094 GRCh37: 5:13841167-13841167
GRCh38: 5:13841058-13841058
16 HORMAD1 NM_032132.5(HORMAD1):c.1021C>T (p.Gln341Ter) SNV Pathogenic
1711131 GRCh37: 1:150675797-150675797
GRCh38: 1:150703321-150703321
17 FKBP6 NM_003602.5(FKBP6):c.589-2A>G SNV Pathogenic
1684032 GRCh37:
GRCh38: 7:73340636-73340636
18 FKBP6 NM_003602.5(FKBP6):c.508_529dup (p.Phe177fs) DUP Pathogenic
1684033 GRCh37:
GRCh38: 7:73331695-73331696
19 CFTR NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) SNV Pathogenic
35867 rs75541969 GRCh37: 7:117254753-117254753
GRCh38: 7:117614699-117614699
20 ODAD2 NM_018076.5(ODAD2):c.2097+1G>A SNV Pathogenic
812721 rs149368374 GRCh37: 10:28228825-28228825
GRCh38: 10:27939896-27939896
21 ODAD2 NM_018076.5(ODAD2):c.2765G>A (p.Gly922Glu) SNV Likely Pathogenic
812720 rs1564439559 GRCh37: 10:28151397-28151397
GRCh38: 10:27862468-27862468
22 FKBP6 NM_003602.5(FKBP6):c.610C>T (p.Arg204Ter) SNV Likely Pathogenic
1683495 GRCh37:
GRCh38: 7:73340659-73340659
23 BRWD1 NM_033656.4(BRWD1):c.5573A>T (p.Gln1858Leu) SNV Likely Pathogenic
982437 GRCh37: 21:40570769-40570769
GRCh38: 21:39198843-39198843
24 FKBP6 NM_003602.5(FKBP6):c.832C>T (p.Arg278Ter) SNV Likely Pathogenic
1684034 GRCh37:
GRCh38: 7:73341321-73341321
25 FKBP6 NM_003602.5(FKBP6):c.469-2A>T SNV Likely Pathogenic
1684035 GRCh37:
GRCh38: 7:73331655-73331655
26 SOX30 NM_178424.2(SOX30):c.1550C>G (p.Ser517Cys) SNV Likely Pathogenic
812722 rs377581367 GRCh37: 5:157065568-157065568
GRCh38: 5:157638560-157638560
27 GALNTL5 NM_145292.4(GALNTL5):c.153dup (p.Val52fs) DUP Likely Pathogenic
996331 rs746301883 GRCh37: 7:151664477-151664478
GRCh38: 7:151967392-151967393
28 KLK4 NM_004917.5(KLK4):c.680C>T (p.Pro227Leu) SNV Uncertain Significance
978005 rs144350395 GRCh37: 19:51410275-51410275
GRCh38: 19:50907019-50907019
29 MYO6 NM_004999.4(MYO6):c.3176G>C (p.Arg1059Thr) SNV Uncertain Significance
45153 rs202214380 GRCh37: 6:76608128-76608128
GRCh38: 6:75898411-75898411
30 SYCP3 NM_001177949.2(SYCP3):c.241A>C (p.Ile81Leu) SNV Uncertain Significance
869113 rs1952350079 GRCh37: 12:102128817-102128817
GRCh38: 12:101735039-101735039
31 ZMYND15 NM_001136046.3(ZMYND15):c.2057+6G>T SNV Uncertain Significance
812589 rs1597285544 GRCh37: 17:4648676-4648676
GRCh38: 17:4745381-4745381
32 CATSPER1 NM_053054.4(CATSPER1):c.2108C>T (p.Thr703Met) SNV Uncertain Significance
305418 rs373771804 GRCh37: 11:65787628-65787628
GRCh38: 11:66020157-66020157
33 CATSPER1 NM_053054.4(CATSPER1):c.-23del DEL Uncertain Significance
305453 rs886048524 GRCh37: 11:65793873-65793873
GRCh38: 11:66026402-66026402
34 CATSPER1 NM_053054.4(CATSPER1):c.*122AG[1] MICROSAT Uncertain Significance
305413 rs764701805 GRCh37: 11:65784236-65784237
GRCh38: 11:66016765-66016766
35 DNAI1 NM_012144.4(DNAI1):c.1948C>T (p.Arg650Cys) SNV Uncertain Significance
216677 rs140820295 GRCh37: 9:34517412-34517412
GRCh38: 9:34517414-34517414
36 CCDC40 NM_017950.4(CCDC40):c.850G>C (p.Asp284His) SNV Uncertain Significance
260979 rs201042940 GRCh37: 17:78022555-78022555
GRCh38: 17:80048756-80048756
37 DNAH11 NM_001277115.2(DNAH11):c.11804C>T (p.Pro3935Leu) SNV Uncertain Significance
454644 rs72658814 GRCh37: 7:21907590-21907590
GRCh38: 7:21867972-21867972
38 DNAH11 NM_001277115.2(DNAH11):c.5805G>C (p.Leu1935Phe) SNV Uncertain Significance
978000 rs1783424940 GRCh37: 7:21727026-21727026
GRCh38: 7:21687408-21687408
39 GALNTL5 NM_145292.4(GALNTL5):c.1256G>C (p.Arg419Pro) SNV Uncertain Significance
978001 rs142778679 GRCh37: 7:151716810-151716810
GRCh38: 7:152019725-152019725
40 AMELY NM_001143.2(AMELY):c.574-1G>A SNV Uncertain Significance
978002 rs760519968 GRCh37: Y:6734120-6734120
GRCh38: Y:6866079-6866079
41 CCDC40 NM_017950.4(CCDC40):c.1945T>C (p.Phe649Leu) SNV Uncertain Significance
978003 rs2038463011 GRCh37: 17:78055813-78055813
GRCh38: 17:80082014-80082014
42 DNAH10 NM_001372106.1(DNAH10):c.10528C>G (p.Pro3510Ala) SNV Uncertain Significance
978004 rs143987578 GRCh37: 12:124399051-124399051
GRCh38: 12:123914504-123914504
43 DNAH10 NM_001372106.1(DNAH10):c.11308G>A (p.Ala3770Thr) SNV Uncertain Significance
978006 rs1566103463 GRCh37: 12:124403298-124403298
GRCh38: 12:123918751-123918751
44 DNAH10 NM_001372106.1(DNAH10):c.3868C>T (p.Leu1290Phe) SNV Uncertain Significance
978007 rs778218750 GRCh37: 12:124303584-124303584
GRCh38: 12:123819037-123819037
45 DNAH10 NM_001372106.1(DNAH10):c.3575A>G (p.Asn1192Ser) SNV Uncertain Significance
978008 rs771006247 GRCh37: 12:124298141-124298141
GRCh38: 12:123813594-123813594
46 CATSPER2 NM_172095.4(CATSPER2):c.842+1G>C SNV Uncertain Significance
978009 rs199516208 GRCh37: 15:43931101-43931101
GRCh38: 15:43638903-43638903
47 KLK14 NM_001369775.2(KLK14):c.652G>A (p.Val218Met) SNV Uncertain Significance
978010 rs201317571 GRCh37: 19:51581368-51581368
GRCh38: 19:51078111-51078111
48 DCAF6, ADCY10 NM_018417.6(ADCY10):c.366T>A (p.Cys122Ter) SNV Uncertain Significance
978011 rs1000089911 GRCh37: 1:167870970-167870970
GRCh38: 1:167901732-167901732
49 BRWD1 NM_033656.4(BRWD1):c.523C>T (p.His175Tyr) SNV Uncertain Significance
982436 GRCh37: 21:40667755-40667755
GRCh38: 21:39295829-39295829
50 BRWD1 NM_033656.4(BRWD1):c.166G>A (p.Gly56Ser) SNV Uncertain Significance
982435 GRCh37: 21:40684799-40684799
GRCh38: 21:39312873-39312873

Expression for Male Infertility

Search GEO for disease gene expression data for Male Infertility.

Pathways for Male Infertility

Pathways related to Male Infertility according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.62 PIWIL1 DAZL DAZ1
2 11.04 SEMG1 PRM2 PRM1 PIWIL1 HORMAD1 H2BW1
3 10.51 FSHR DAZL

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 9.73 SEMG1 EPPIN DAZL DAZ4 DAZ1 CFTR
2 chromosome GO:0005694 9.1 PRM2 PRM1 HORMAD1 H2BW1 FKBP6

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

# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 10.1 BOLL DAZ1 DAZ4 DAZL FKBP6 GALNTL5
2 meiotic cell cycle GO:0051321 10.01 PIWIL1 HORMAD1 FKBP6 BOLL
3 spermatid development GO:0007286 9.91 PRM2 PIWIL1 GALNTL5 FSHR
4 negative regulation of calcium ion import GO:0090281 9.76 SEMG1 EPPIN
5 positive regulation of translational initiation GO:0045948 9.76 DAZL DAZ4 DAZ1 BOLL
6 negative regulation of flagellated sperm motility GO:1901318 9.73 SEMG1 EPPIN
7 sperm DNA condensation GO:0035092 9.72 PRM1 PIWIL1 FSHR
8 spermatogenesis GO:0007283 9.64 PRM2 PRM1 PIWIL1 HORMAD1 GALNTL5 FSHR
9 3'-UTR-mediated mRNA stabilization GO:0070935 9.56 BOLL DAZ1 DAZ4 DAZL

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 9.76 DAZL DAZ4 DAZ1 BOLL
2 nucleic acid binding GO:0003676 9.65 BOLL DAZ1 DAZ4 DAZL PIWIL1
3 mRNA binding GO:0003729 9.43 PIWIL1 DAZL DAZ4 DAZ1 BOLL
4 translation activator activity GO:0008494 9.23 DAZL DAZ4 DAZ1 BOLL

Sources for Male Infertility

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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