MCID: MLN007
MIFTS: 56

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 44 39
Infertility Male 54

Classifications:



External Ids:

Disease Ontology 12 DOID:12336
ICD9CM 34 606
MeSH 44 D007248
SNOMED-CT 67 155924001
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 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 CFTR (CF Transmembrane Conductance Regulator). The drugs Metformin and Bupivacaine 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 400)
# Related Disease Score Top Affiliating Genes
1 infertility 33.6 USP9Y USP26 PRM2 PRM1 EPPIN DNAH1
2 azoospermia 33.3 USP9Y USP26 PRM2 PRM1 DDX3Y DAZL
3 spermatogenic failure 9 33.1 PRM2 EPPIN DNAH1
4 spermatogenic failure, x-linked, 1 32.9 USP26 PRM2 EPPIN DAZL BOLL
5 spermatogenic failure 50 32.8 USP26 PRM2 PRM1 EPPIN DAZL BOLL
6 oligoasthenoteratozoospermia 32.8 PRM2 PRM1 CATSPER2
7 oligospermia 32.7 USP26 PRM2 HOXD13 EPPIN DAZL CFTR
8 vas deferens, congenital bilateral aplasia of 32.7 USP26 PRM2 CFTR
9 partial deletion of y 31.9 USP9Y DDX3Y DAZ1
10 cryptorchidism, unilateral or bilateral 31.7 PRM2 EPPIN DAZL CFTR
11 spermatogenic failure, y-linked, 2 31.5 USP9Y USP26 SOX30 PRY2 PRY DDX3Y
12 y chromosome infertility 31.3 USP9Y PRY2 PRY DDX3Y DAZ1 BPY2
13 phelan-mcdermid syndrome 30.5 USP9Y DAZL DAZ1
14 visceral heterotaxy 30.3 ODAD2 DNAH5 DNAH1
15 spermatogenic failure 5 11.8
16 deafness-infertility syndrome 11.7
17 spermatogenic failure 6 11.6
18 catsper1-related nonsyndromic male infertility 11.6
19 heterotaxy, visceral, 9, autosomal, with male infertility 11.6
20 male infertility with teratozoospermia due to single gene mutation 11.5
21 spermatogenic failure 7 11.5
22 spermatogenic failure 17 11.5
23 non-syndromic male infertility due to sperm motility disorder 11.4
24 male infertility due to obstructive azoospermia 11.4
25 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin 11.4
26 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder 11.4
27 male infertility with spermatogenesis disorder due to single gene mutation 11.3
28 male infertility due to sperm motility disorder 11.3
29 catsper-related male infertility 11.3
30 male infertility due to obstructive azoospermia of genetic origin 11.3
31 male infertility due to gonadal dysgenesis or sperm disorder 11.3
32 spermatogenic failure, x-linked, 2 11.3
33 male infertility due to gonadal dysgenesis 11.3
34 young syndrome 11.2
35 spermatogenic failure 3 11.2
36 spermatogenic failure 18 11.2
37 spermatogenic failure 46 11.1
38 rare male infertility due to adrenal disorder of genetic origin 11.1
39 male infertility due to sperm disorder 11.1
40 rare male infertility due to testicular endocrine disorder 11.1
41 rare male infertility due to adrenal disorder 11.1
42 male infertility with azoospermia or oligozoospermia due to single gene mutation 11.1
43 male infertility with spermatogenesis disorder 11.1
44 rare idiopathic male infertility 11.1
45 spermatogenic failure 13 11.1
46 spermatogenic failure 16 11.1
47 spermatogenic failure 21 11.1
48 spermatogenic failure 45 11.1
49 rare genetic male infertility 11.1
50 male infertility due to acephalic spermatozoa 11.1

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 reproductive system MP:0005389 9.28 BOLL CATSPER2 CFTR DDX3Y DNAH1 HOXD13

Drugs & Therapeutics for Male Infertility

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

(show top 50) (show all 176)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4 657-24-9 14219 4091
2
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
3
Dimenhydrinate Approved Phase 4 523-87-5 441281
4
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
5
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
6
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
7
Polyestradiol phosphate Approved Phase 4 28014-46-2
8
Ginseng Approved, Investigational, Nutraceutical Phase 4 50647-08-0
9 Hypoglycemic Agents Phase 4
10 Insulin, Globin Zinc Phase 4
11 Anticoagulants Phase 4
12 Chelating Agents Phase 4
13 insulin Phase 4
14 Anesthetics Phase 4
15 Anesthetics, Local Phase 4
16 Immunologic Factors Phase 4
17 Viscosupplements Phase 4
18 Adjuvants, Immunologic Phase 4
19 Estrogens Phase 4
20 Hormones Phase 4
21 Hormone Antagonists Phase 4
22 Estrogen Antagonists Phase 4
23 Estrogen Receptor Antagonists Phase 4
24 Estradiol 17 beta-cypionate Phase 4
25 Estradiol 3-benzoate Phase 4
26 Progestins Phase 4
27 Aromatase Inhibitors Phase 4
28 Contraceptive Agents Phase 4
29 Ginger Approved Phase 3
30
Vitamin D3 Approved, Nutraceutical Phase 2, Phase 3 67-97-0 6221 5280795
31 Follicle Stimulating Hormone Phase 2, Phase 3
32 Hematinics Phase 3
33
Goserelin Approved Phase 2 65807-02-5 47725 5311128
34
Isotretinoin Approved Phase 2 4759-48-2 5538 5282379
35
Lycopene Approved, Investigational Phase 2 502-65-8 446925
36
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
37
Norepinephrine Approved Phase 2 51-41-2 439260
38
Denosumab Approved Phase 2 615258-40-7
39
Citalopram Approved Phase 2 59729-33-8 2771
40
Menotropins Approved Phase 2 9002-68-0, 61489-71-2 5360545
41
Vitamin C Approved, Nutraceutical Phase 2 50-81-7 5785 54670067
42
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 5538 444795
43
Calcitriol Approved, Nutraceutical Phase 2 32222-06-3 134070 5280453
44 Keratolytic Agents Phase 2
45 Dihydroxycholecalciferols Phase 2
46 Dermatologic Agents Phase 2
47 Vasoconstrictor Agents Phase 2
48 Dopamine Agents Phase 2
49 Serotonin and Noradrenaline Reuptake Inhibitors Phase 2
50 Duloxetine Hydrochloride Phase 2

Interventional clinical trials:

(show top 50) (show all 158)
# Name Status NCT ID Phase Drugs
1 Oxidative Stress In Semen And Male Infertility Unknown status NCT03464656 Phase 4 Fairhaven Pro for men
2 Metformin for the Treatment of Unexplained Oligozspermia and Azoospermia Unknown status NCT01529177 Phase 4 Metformin / clomid / hCG;Clomiphene citrate / hCG
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 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)
5 Post-operative Pain Control of Testicular Sperm Extraction Using Liposomal Bupivacaine Completed NCT03802864 Phase 4 Liposomal Bupivacaine;Standard Bupivacaine
6 Effects of Korean Red Ginseng on Semen Parameters in Male Infertility Patients: a Randomized, Placebo-controlled, Double-blind Clinical Study Completed NCT02204826 Phase 4 Korean Red Ginseng (KRG)
7 Effects of Korean Red Ginseng on Male Infertility Completed NCT02202382 Phase 4 Korean Red Ginseng, Varicocelectomy;Placebo
8 Evaluation of Sperm Selection Technique Using Hyaluronic Acid Binding in Intra-cytoplasmic Sperm Injection (ICSI) Completed NCT03999372 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 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]
11 A Randomized Controlled Study to Compare the Outcome of Two Protocols Used to Prepare the Endometrium for Frozen Embryo Transfer Recruiting NCT04507022 Phase 4 Estradiol Valerate;Progesterone;Aromatase inhibitor
12 Follicle-stimulating Hormone Treatment for Infertile Male Patients With Non-obstructive Azoospermia: a Multicenter Randomized Clinical Trial Unknown status NCT02275169 Phase 3 Urofollitropin
13 Anti-oxidative Influence From Pomegranate Tablets on Male Sperm Quality in Couples Undergo Infertility Treatments Due to Male Infertility. Unknown status NCT01918163 Phase 3
14 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
15 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
16 Assessment of the Efficacy of Dietary Supplement Spermotrend in the Treatment of Male Infertility Completed NCT00975117 Phase 3
17 Impact of Folates in the Care of the Male Infertility Completed NCT01407432 Phase 3 Folic acid;placebo of folic acid
18 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
19 Phase 3 of Study on Effects of New Herbal Mixture on Men Infertility Completed NCT01895816 Phase 3
20 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
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 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
23 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
24 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
25 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
26 Using of Bone Marrow Derived Mesenchymal Stem Cells For Treatment of Azoospermic Patients Unknown status NCT02025270 Phase 1, Phase 2
27 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
28 Males, Antioxidants, and Infertility (MOXI) Trial Completed NCT02421887 Phase 2 Antioxidant Supplement
29 A Pilot Trial of 13-cis Retinoic Acid (Isotretinoin) for the Treatment of Men With Azoospermia Completed NCT03323801 Phase 2 13-cis retinoic acid
30 Impact of Duloxetine on Male Fertility Completed NCT03038867 Phase 2 Duloxetine;Placebo
31 Clomiphene Citrate for the Treatment of Opioid-Induced Androgen Deficiency: Randomized Controlled Clinical Trial Completed NCT01880086 Phase 2 Clomiphene citrate;Placebo
32 Denosumab and Male Infertility: a Prospective Intervention Study Completed NCT02422108 Phase 2 Denosumab
33 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
34 Denosumab and Male Infertility: a Randomized Controlled Double-blinded Intervention Study Active, not recruiting NCT03030196 Phase 2 Denosumab
35 Assessing the Impact of Escitalopram on Sperm DNA Fragmentation: A Randomized Placebo Controlled Active, not recruiting NCT03527043 Phase 2 Escitalopram
36 Pharmacodynamics and Safety of Human Recombinant Luteinising Hormone in Hypogonadotropic Hypogonadal Men Not yet recruiting NCT04189133 Phase 2 Lutropin alfa;Human chorionic gonadotropin
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 A Pilot Study to Evaluate the Effect of Pomegranate Juice on Semen Parameters in Healthy Male Volunteers Completed NCT01595308 Phase 1
39 Choline Dehydrogenase and Sperm Function: Effects of Betaine Completed NCT02122211 Phase 1 Betaine supplement
40 Modern Analyses of the Semen in Evaluating Male Fertility and Treatment Options of Male Infertility Unknown status NCT02932865
41 Is a Carnitine Based Food Supplement (PorimoreTM) for Infertile Men Superior to Folate and Zinc With Regard to Pregnancy Rates in Intrauterine Insemination Cycles? Unknown status NCT01075334
42 Proposed Research Protocol For Male Infertility Unknown status NCT01255397
43 Effect of Cannabis Consumption on Sperm Nuclear Quality in Infertile Men : a Prospective Exposed / Unexposed Study Unknown status NCT02932527
44 Evaluation of FabLife's Personalised Support Program Effectiveness in Sperm Quality Improvement in Men Suffering From Hypofertility Unknown status NCT03475199
45 Evaluation of Treatment With Trans-resveratrol, Folic Acid, Vitamin D, Vitamin B12 and B6 in Men With Infertility Unknown status NCT03864198
46 Spermatogonial Stem Cells in Azoospermic Patients: a Comparison Between Obstructive and Non-obstructive Azoospermia Unknown status NCT01178463
47 Cost Effectiveness of Two Different Strategies to Implement the NVOG Guideline Programme on Subfertility Unknown status NCT00119925
48 Relationship Between Nitric Oxide (NO) in Follicular Fluid and Sperm Fertilization Ability Unknown status NCT03307655
49 Small RNA Pathways in Mammalian Gametogenesis Unknown status NCT02864329
50 Oxidative Stress, Vitamin E and Lipidomics in Seminal Fluid as Potential Link to Infertility Unknown status NCT02062229

Search NIH Clinical Center for Male Infertility

Inferred drug relations via UMLS 71 / NDF-RT 51 :


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, Spinal Cord, Kidney, Prostate, Thyroid, Ovary
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 9500)
# Title Authors PMID Year
1
Robotic Surgery for Male Infertility. 61 42
33218587 2021
2
Efficacy of electroacupuncture for the treatment of asthenozoospermia: A protocol for systematic review and meta-analysis. 61 42
33530158 2021
3
Methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and male infertility risk: An updated meta-analysis. 61 42
33371103 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
New Strategy of Functional Analysis of PHGPx Knockout Mice Model Using Transgenic Rescue Method and Cre-LoxP System. 54 61
20104259 2010
8
[MTHFR gene polymorphism and male infertility]. 61 54
20180408 2010
9
FSHR single nucleotide polymorphism frequencies in proven fathers and infertile men in Southeast Turkey. 54 61
20454649 2010
10
CAG repeat variation in the mtDNA polymerase gamma is not associated with oligoasthenozoospermia. 54 61
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
MTHFR promoter hypermethylation in testicular biopsies of patients with non-obstructive azoospermia: the role of epigenetics in male infertility. 54 61
19477879 2009
15
[Association of male infertility with (CAG)n polymorphism of the androgen receptor gene: a meta-analysis]. 61 54
19947564 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
A386G polymorphism of the DAZL gene is not associated with idiopathic male infertility in North India. 54 61
19881148 2009
19
Posttranscriptional regulation of CDC25A by BOLL is a conserved fertility mechanism essential for human spermatogenesis. 54 61
19417033 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. 61 54
19131511 2009
22
[The investigation of the relationship between the phenotypes of 46, XX males and the SRY gene]. 61 54
19199262 2009
23
USP26 gene variations in fertile and infertile men. 54 61
18927127 2009
24
CA repeat and RsaI polymorphisms in ERbeta gene are not associated with infertility in Indian men. 54 61
17916182 2009
25
[Update of the studies on epididymal oxidative stress]. 54 61
19323379 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. 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]. 61 54
19004117 2008
32
The AZF proteins. 61 54
18462373 2008
33
Androgen receptor gene haplotype is associated with male infertility. 61 54
17651405 2008
34
Molecular analysis of mutations and polymorphisms in the CFTR gene in male infertility. 61 54
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. 61 54
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. 61 54
17970778 2008
40
Screening of 'Y' chromosome microdeletions in Iranian infertile males. 61 54
19562056 2008
41
A386G transition in DAZL gene is not associated with spermatogenic failure in Tamil Nadu, South India. 61 54
20300286 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. 54 61
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. 61 54
17937612 2007
46
Reversal of idiopathic hypogonadotropic hypogonadism. 54 61
17761590 2007
47
[Autosomal DAZL single nucleotide polymorphisms not associated with male infertility in northeast China]. 61 54
17918711 2007
48
[The analysis of CFTR mutations in men with azoospermia, oligozoospermia and asthenozoospermia]. 54 61
18050608 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 41)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HOXD13 NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter) SNV Pathogenic 374019 rs200750564 2:176959246-176959246 2:176094518-176094518
2 CLDN2 NM_020384.4(CLDN2):c.481G>C (p.Gly161Arg) SNV Pathogenic 488651 rs1555979575 X:106171939-106171939 X:106928709-106928709
3 PRY2 GRCh37/hg19 Yq11.222-11.23(chrY:20608554-28799937)x0 copy number loss Pathogenic 870512 Y:20608554-28799937
4 PRY GRCh37/hg19 Yq11.223-11.23(chrY:24644460-28341390)x0 copy number loss Pathogenic 870513 Y:24644460-28341390
5 PRY2 GRCh37/hg19 Yq11.223-11.23(chrY:23887108-28799937)x0 copy number loss Pathogenic 870515 Y:23887108-28799937
6 BPY2 GRCh37/hg19 Yq11.223-11.23(chrY:24770884-28355431)x0 copy number loss Pathogenic 870518 Y:24770884-28355431
7 PRY2 GRCh37/hg19 Yq11.221-11.23(chrY:18546605-28799937)x0 copy number loss Pathogenic 870519 Y:18546605-28799937
8 PRY2 GRCh37/hg19 Yq11.222-11.23(chrY:20111978-28423925)x0 copy number loss Pathogenic 870520 Y:20111978-28423925
9 DDX3Y GRCh37/hg19 Yq11.21-11.223(chrY:14495040-24070172)x0 copy number loss Pathogenic 870521 Y:14495040-24070172
10 PRY GRCh37/hg19 Yq11.223-11.23(chrY:24651462-28328263)x0 copy number loss Pathogenic 870522 Y:24651462-28328263
11 DDX3Y GRCh37/hg19 Yq11.21-11.221(chrY:14443478-15230544)x0 copy number loss Pathogenic 870525 Y:14443478-15230544
12 PRY2 GRCh37/hg19 Yq11.222-11.23(chrY:21719615-28799937)x0 copy number loss Pathogenic 870526 Y:21719615-28799937
13 DDX3Y GRCh37/hg19 Yq11.21-11.23(chrY:13800703-28799937)x0 copy number loss Pathogenic 870527 Y:13800703-28799937
14 PRY2 GRCh37/hg19 Yq11.221-11.23(chrY:15427283-28799937)x0 copy number loss Pathogenic 870528 Y:15427283-28799937
15 DNAH5 NM_001369.2(DNAH5):c.5557A>T (p.Lys1853Ter) SNV Pathogenic 220581 rs748618094 5:13841167-13841167 5:13841058-13841058
16 ODAD2 NM_018076.5(ODAD2):c.2097+1G>A SNV Pathogenic 812721 rs149368374 10:28228825-28228825 10:27939896-27939896
17 CFTR NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) SNV Pathogenic 35867 rs75541969 7:117254753-117254753 7:117614699-117614699
18 ODAD2 NM_018076.5(ODAD2):c.2765G>A (p.Gly922Glu) SNV Likely pathogenic 812720 rs1564439559 10:28151397-28151397 10:27862468-27862468
19 SOX30 NM_178424.2(SOX30):c.1550C>G (p.Ser517Cys) SNV Likely pathogenic 812722 rs377581367 5:157065568-157065568 5:157638560-157638560
20 ZMYND15 NM_001136046.3(ZMYND15):c.2057+6G>T SNV Uncertain significance 812589 rs1597285544 17:4648676-4648676 17:4745381-4745381
21 CHPT1 NM_001177949.2(SYCP3):c.241A>C (p.Ile81Leu) SNV Uncertain significance 869113 12:102128817-102128817 12:101735039-101735039
22 MYO6 NM_004999.4(MYO6):c.3176G>C (p.Arg1059Thr) SNV Uncertain significance 45153 rs202214380 6:76608128-76608128 6:75898411-75898411
23 CATSPER1 NM_053054.4(CATSPER1):c.2108C>T (p.Thr703Met) SNV Uncertain significance 305418 rs373771804 11:65787628-65787628 11:66020157-66020157
24 CATSPER1 NM_053054.4(CATSPER1):c.-23del Deletion Uncertain significance 305453 rs886048524 11:65793873-65793873 11:66026402-66026402
25 CATSPER1 NM_053054.4(CATSPER1):c.*122_*123AG[1] Microsatellite Uncertain significance 305413 rs764701805 11:65784236-65784237 11:66016765-66016766
26 CATSPER2 NM_172095.4(CATSPER2):c.842+1G>C SNV Uncertain significance 978009 15:43931101-43931101 15:43638903-43638903
27 KLK14 NM_001369775.2(KLK14):c.652G>A (p.Val218Met) SNV Uncertain significance 978010 19:51581368-51581368 19:51078111-51078111
28 ADCY10 NM_018417.6(ADCY10):c.366T>A (p.Cys122Ter) SNV Uncertain significance 978011 1:167870970-167870970 1:167901732-167901732
29 DNAH11 NM_001277115.2(DNAH11):c.5805G>C (p.Leu1935Phe) SNV Uncertain significance 978000 7:21727026-21727026 7:21687408-21687408
30 DNAI1 NM_012144.4(DNAI1):c.1948C>T (p.Arg650Cys) SNV Uncertain significance 216677 rs140820295 9:34517412-34517412 9:34517414-34517414
31 GALNTL5 NM_145292.4(GALNTL5):c.1256G>C (p.Arg419Pro) SNV Uncertain significance 978001 7:151716810-151716810 7:152019725-152019725
32 AMELY NM_001143.1(AMELY):c.574-1G>A SNV Uncertain significance 978002 Y:6734120-6734120 Y:6866079-6866079
33 CCDC40 NM_017950.4(CCDC40):c.1945T>C (p.Phe649Leu) SNV Uncertain significance 978003 17:78055813-78055813 17:80082014-80082014
34 CCDC40 NM_017950.4(CCDC40):c.850G>C (p.Asp284His) SNV Uncertain significance 260979 rs201042940 17:78022555-78022555 17:80048756-80048756
35 DNAH10 NM_001372106.1(DNAH10):c.10528C>G (p.Pro3510Ala) SNV Uncertain significance 978004 12:124399051-124399051 12:123914504-123914504
36 KLK4 NM_004917.4(KLK4):c.680C>T (p.Pro227Leu) SNV Uncertain significance 978005 19:51410275-51410275 19:50907019-50907019
37 DNAH10 NM_001372106.1(DNAH10):c.11308G>A (p.Ala3770Thr) SNV Uncertain significance 978006 12:124403298-124403298 12:123918751-123918751
38 DNAH10 NM_001372106.1(DNAH10):c.3868C>T (p.Leu1290Phe) SNV Uncertain significance 978007 12:124303584-124303584 12:123819037-123819037
39 DNAH10 NM_001372106.1(DNAH10):c.3575A>G (p.Asn1192Ser) SNV Uncertain significance 978008 12:124298141-124298141 12:123813594-123813594
40 DNAH11 NM_001277115.2(DNAH11):c.11804C>T (p.Pro3935Leu) SNV Uncertain significance 454644 rs72658814 7:21907590-21907590 7:21867972-21867972
41 CATSPER1 NM_053054.4(CATSPER1):c.-25del Deletion 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 cilium GO:0005929 9.56 ODAD2 DNAH5 DNAH1 CATSPER2
2 motile cilium GO:0031514 9.33 DNAH5 DNAH1 CATSPER2
3 axoneme GO:0005930 9.13 ODAD2 DNAH5 DNAH1
4 axonemal dynein complex GO:0005858 8.62 DNAH5 DNAH1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.95 PRM2 PRM1 HOXD13 DAZL DAZ1 CATSPER2
2 cell differentiation GO:0030154 9.87 PRM2 PRM1 DDX3Y DAZL DAZ1 CATSPER2
3 flagellated sperm motility GO:0030317 9.61 DNAH5 DNAH1 CATSPER2
4 chromosome condensation GO:0030261 9.49 PRM2 PRM1
5 sperm capacitation GO:0048240 9.48 CFTR CATSPER2
6 outer dynein arm assembly GO:0036158 9.46 ODAD2 DNAH5
7 cilium movement GO:0003341 9.43 ODAD2 DNAH5 DNAH1
8 DNA packaging GO:0006323 9.37 PRM2 PRM1
9 positive regulation of translational initiation GO:0045948 9.33 DAZL DAZ1 BOLL
10 spermatogenesis GO:0007283 9.23 USP9Y PRM2 PRM1 DAZL DAZ1 CATSPER2
11 3'-UTR-mediated mRNA stabilization GO:0070935 9.13 DAZL DAZ1 BOLL

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 9.5 DAZL DAZ1 BOLL
2 dynein intermediate chain binding GO:0045505 9.26 DNAH5 DNAH1
3 dynein light intermediate chain binding GO:0051959 9.16 DNAH5 DNAH1
4 ATP-dependent microtubule motor activity, minus-end-directed GO:0008569 8.96 DNAH5 DNAH1
5 translation activator activity GO:0008494 8.8 DAZL DAZ1 BOLL

Sources for Male Infertility

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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44 MeSH
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50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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