Aliases & Classifications for Azoospermia

MalaCards integrated aliases for Azoospermia:

Name: Azoospermia 12 37 29 55 6 44 15 73
Spermatogenic Failure 12 37 6
Spermatogenic Failure, Susceptibility to 6

Classifications:



External Ids:

Disease Ontology 12 DOID:14227
ICD10 33 N46.0 N46.01
ICD9CM 35 606.0
MeSH 44 D053713
NCIt 50 C80076
UMLS 73 C0004509

Summaries for Azoospermia

Disease Ontology : 12 A male infertility disease characterized by the absence of any measurable level of sperm in semen.

MalaCards based summary : Azoospermia, also known as spermatogenic failure, is related to spermatogenic failure 4 and spermatogenic failure, y-linked, 2. An important gene associated with Azoospermia is DAZL (Deleted In Azoospermia Like). The drugs Metformin and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include testis, testes and liver.

Wikipedia : 76 Azoospermia is the medical condition of a man whose semen contains no sperm. It is associated with... more...

Related Diseases for Azoospermia

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

(show top 50) (show all 105)
# Related Disease Score Top Affiliating Genes
1 spermatogenic failure 4 32.7 AR SYCP3
2 spermatogenic failure, y-linked, 2 30.6 DAZ1 DAZ2 DAZ3 DAZ4 DDX3Y RBMY1A1
3 oligospermia 30.6 AR DAZ1 DAZ4
4 spermatogenic failure, x-linked, 1 30.5 DAZ1 DAZ4 DAZL DDX3Y RBMY1A1 USP9Y
5 infertility 28.4 DAZ1 DAZ3 DAZ4 DAZL DDX3Y FSHB
6 male infertility 27.1 AR BOLL DAZ1 DAZ2 DAZ3 DAZ4
7 spermatogenic failure 10 12.4
8 y chromosome infertility 11.7
9 young syndrome 11.7
10 spinocerebellar ataxia 32 11.4
11 vas deferens, congenital bilateral aplasia of, x-linked 10.9
12 spermatogenic failure 3 10.9
13 hypogonadotropic hypogonadism 24 without anosmia 10.8
14 vas deferens, congenital bilateral aplasia of 10.8
15 spermatogenic failure, x-linked, 2 10.8
16 androgen insensitivity, partial 10.8
17 46,xx sex reversal 1 10.8
18 leukoencephalopathy with dystonia and motor neuropathy 10.8
19 spermatogenic failure 12 10.8
20 spermatogenic failure 13 10.8
21 spermatogenic failure 14 10.8
22 spermatogenic failure 15 10.8
23 spermatogenic failure 22 10.8
24 spermatogenic failure 23 10.8
25 spermatogenic failure 25 10.8
26 epididymitis 10.3
27 varicocele 10.2
28 cystic fibrosis 10.0
29 aging 9.9
30 hypogonadism 9.9
31 47, xxy 9.9
32 intussusception 9.9
33 inguinal hernia 9.9
34 hypogonadotropic hypogonadism 9.9
35 testicular germ cell tumor 9.8
36 testicular germ cell tumor 1 9.8
37 wilms tumor 5 9.8
38 wilms tumor 6 9.8
39 spinal cord injury 9.8
40 hypospadias 9.8
41 spermatocele 9.8
42 leydig cell tumor 9.8
43 testicular cancer 9.8
44 conjunctivitis 9.8
45 hypogonadotropism 9.8
46 situs inversus 9.8
47 dextrocardia with situs inversus 9.8
48 germ cells tumors 9.8
49 hypoxia 9.8
50 cryptorchidism, unilateral or bilateral 9.6 AR AZF1 DAZ1

Comorbidity relations with Azoospermia via Phenotypic Disease Network (PDN):


Prostate Cancer

Graphical network of the top 20 diseases related to Azoospermia:



Diseases related to Azoospermia

Symptoms & Phenotypes for Azoospermia

Drugs & Therapeutics for Azoospermia

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

(show top 50) (show all 78)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4 657-24-9 14219 4091
2
Estradiol Approved, Investigational, Vet_approved Phase 4,Not Applicable 50-28-2 5757
3 Estradiol valerate Approved, Investigational, Vet_approved Phase 4,Not Applicable 979-32-8
4
Methyltestosterone Approved Phase 4,Phase 2,Phase 3,Phase 1 58-18-4 6010
5
Polyestradiol phosphate Approved Phase 4,Not Applicable 28014-46-2
6
Testosterone Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 58-22-0 6013
7
Testosterone enanthate Approved Phase 4,Phase 2,Phase 3,Phase 1 315-37-7 9416
8
Testosterone undecanoate Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 5949-44-0
9
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4,Not Applicable 77-92-9 311
10
Ginseng Approved, Investigational, Nutraceutical Phase 4 50647-08-0
11
Enclomiphene Investigational Phase 4,Not Applicable 15690-57-0
12 Anticoagulants Phase 4,Not Applicable
13 Calcium, Dietary Phase 4,Not Applicable
14 Chelating Agents Phase 4,Not Applicable
15 Chorionic Gonadotropin Phase 4,Phase 2
16 Clomiphene Phase 4,Not Applicable
17 Estrogen Antagonists Phase 4,Phase 3,Not Applicable
18 Estrogen Receptor Modulators Phase 4,Not Applicable
19 Estrogens Phase 4,Phase 3,Not Applicable
20 Fertility Agents Phase 4,Not Applicable
21 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
22 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
23 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
24 Hypoglycemic Agents Phase 4,Not Applicable
25 insulin Phase 4,Not Applicable
26 Insulin, Globin Zinc Phase 4,Not Applicable
27 Selective Estrogen Receptor Modulators Phase 4,Not Applicable
28 Zuclomiphene Phase 4,Not Applicable
29 Follicle Stimulating Hormone Phase 4,Phase 3
30 Anabolic Agents Phase 4,Phase 2,Phase 3,Phase 1
31 Androgens Phase 4,Phase 2,Phase 3,Phase 1
32 Antineoplastic Agents, Hormonal Phase 4,Phase 2,Phase 3,Phase 1
33 Estradiol 17 beta-cypionate Phase 4,Not Applicable
34 Estradiol 3-benzoate Phase 4,Not Applicable
35 Testosterone 17 beta-cypionate Phase 4,Phase 2,Phase 3,Phase 1
36 Citrate Nutraceutical Phase 4,Not Applicable
37
Letrozole Approved, Investigational Phase 3 112809-51-5 3902
38
Castor oil Approved, Investigational, Nutraceutical, Vet_approved Phase 2, Phase 3 8001-79-4
39 Aromatase Inhibitors Phase 3
40 Steroid Synthesis Inhibitors Phase 3
41 Cathartics Phase 2, Phase 3
42 Gastrointestinal Agents Phase 2, Phase 3
43 Laxatives Phase 2, Phase 3
44 Castor Nutraceutical Phase 2, Phase 3
45
Goserelin Approved Phase 2 65807-02-5 47725 5311128
46
Isotretinoin Approved Phase 2 4759-48-2 5538 5282379
47
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 5538 444795
48 Contraceptive Agents Phase 2,Phase 1
49 Dermatologic Agents Phase 2
50 Keratolytic Agents Phase 2

Interventional clinical trials:

(show all 50)
# Name Status NCT ID Phase Drugs
1 Clinical Research on Effectiveness and Safety of Treatment of Severe Oligospermia or Azoospermia With uFSH Unknown status NCT02307994 Phase 4 75IU uFSH
2 Metformin for the Treatment of Unexplained Oligozspermia Unknown status NCT01529177 Phase 4 Metformin / clomid / hCG;Clomiphene citrate / hCG
3 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)
4 Natesto Effects on Testosterone, Luteinizing Hormone, Follicle Stimulating Hormone and Semen Parameters Recruiting NCT03203681 Phase 4 NATESTO® (4.5% nasal testosterone) Nasal Gel
5 FSH Treatment for Non-obstructive Azoospermic Patients Unknown status NCT02275169 Phase 3 Urofollitropin
6 Effect of Letrozole on Seminal Parameters in Men With Non Obstructive Azoospermia and Severe Oligozoospermia. Completed NCT02900105 Phase 3 Letrozole
7 The Comparison of Diagnostic TESE and TESA in Non-obstructive Azoospermic Completed NCT01210326 Phase 2, Phase 3
8 Androgen for Leydig Cell Proliferation Completed NCT01206270 Phase 2, Phase 3 Testosterone undecanoate;Castor Oil
9 Testicular Injection of Autologous Stem Cells for Treatment of Patients With Azoospermia Unknown status NCT02041910 Phase 1, Phase 2
10 MSCs For Treatment of Azoospermic Patients Unknown status NCT02025270 Phase 1, Phase 2
11 GnRHa Combined With hCG and hMG for Treatment of Patients With Non-obstructive Azoospermia Recruiting NCT02544191 Phase 2 GnRHa/ hCG/ hMG
12 RA-4: 13-cis Retinoic Acid for Treatment of Men With Azoospermia Recruiting NCT03323801 Phase 2 13-cis retinoic acid
13 Intra-Testicular Transplantation of Autologous Stem Cells for Treatment of Non-Obstructive Azoospermia Male Infertility. Recruiting NCT02641769 Phase 1, Phase 2
14 Contraception in Normal and Subnormal Men Terminated NCT00167141 Phase 2 injection of hormonal male contraceptive
15 Study of the Safety, and Sperm and Gonadotropin Suppression of a Contraceptive Gel in Normal Men Completed NCT00891228 Phase 1 Testosterone;Nestorone®;Nestorone®;Nestorone®
16 Intra Testicular Artery Injection of Bone Marrow Stem Cell in Management of Azoospermia Unknown status NCT02008799 Not Applicable
17 Use of Semen TEX101 to Improve Sperm Retrieval Rates for Men With Non-obstructive Azoospermia Unknown status NCT02851966 Not Applicable
18 Outcome of ICSI Using Cryopreserved Testicular Sperm From Infertile Men With Varicocele-associated Azoospermia Unknown status NCT02306499 Not Applicable
19 Spermatogonial Stem Cells in Azoospermic Patients: a Comparison Between Obstructive and Non-obstructive Azoospermia Unknown status NCT01178463
20 The Effect of Low Electrical Current on Testicular Spermatocyte Count Unknown status NCT02617173 Not Applicable
21 Trial to Evaluate Erectile Function, Fertility and Sperm Count in Male Cyclists Compared to Age Matched Controls Unknown status NCT00282477
22 Isolation of the Spermatic Cord in Mesh Inguinal Hernia Repair Unknown status NCT01391455 Not Applicable
23 A Preliminary Study on Effect of Omega-3 on Human Sperm Unknown status NCT00479960 Early Phase 1
24 Estradiol and Testosterone Levels in Seminal Plasma of Men With Non-obstructive Azoospermia Completed NCT02255396
25 Insulin Resistance in Idiopathic Oligospermia and Azoospermia Completed NCT01509482 Not Applicable
26 Microdissection Testicular Sperm Extraction (MicroTESE) and IVF-ICSI Outcome in Non-Obstructive Azoospermia (NOA) Completed NCT00484081 Not Applicable
27 The Acceptance, Safety, and Efficacy of MadaJet Versus Needle Injection for Sperm Retrieval in Patients With Azoospermia Completed NCT03181243 Not Applicable
28 Study of Synapsis and Recombination in Male Meiosis and the Implications in Infertility Completed NCT02339272
29 Sperm Production in Kleinfelter Syndrome Patients After Mesenchymal Stem Cell Injection Completed NCT02414295 Not Applicable Mesenchymal stem cell injection
30 Obtaining Undifferentiated Cells From Testis Biopsy Completed NCT01375062 Not Applicable
31 Genetic Studies Spermatogenic Failure Completed NCT00548977
32 Chromosomal and Morphological Structure of Mature and Immature Male Germ Cells and Recognition of IL-18 in Testicular Tissue of Azoospermic Men Completed NCT00544089
33 Testicular Function After Iodine 131 Therapy in Papillary Carcinoma Patients Completed NCT01150318 Not Applicable Administration of 131 iodine
34 Role of the Toxic Metal Cadmium in the Mechanism Producing Infertility With a Varicocele Completed NCT00044369
35 Detection of Microdeletions in the Azoospermia Factor (AZF) Regions in Infertile Male Patients Recruiting NCT03497728
36 Secretory Azoospermia and FDG (Fluoro Deoxyglucose) PET-CT Recruiting NCT02043444 Not Applicable
37 Assessing the Efficacy of Clomiphene Citrate in Patients With Azoospermia and Hypoandrogenism Recruiting NCT02137265 Not Applicable Clomiphene;Placebo
38 Retrieval of Sperm From Men With Azoospermia Using Ultrasound-guided Rete Testis Aspiration Recruiting NCT03291522
39 Surgical Sperm Retrieval in Non-obstructive Azoospermic Men: mTESE vs. TESA Recruiting NCT03550716 Not Applicable
40 HPV as a Possible Cause of Azoospermia Recruiting NCT02329275
41 Fertility Preservation in Cases of Klinefelter Syndrome. Recruiting NCT01918280 Not Applicable
42 Treatment of Severe Male Infertility - Predictive Factors (Imaging) Recruiting NCT02931721
43 Modern Analyses of the Semen in Evaluating Male Fertility and Treatment Options of Male Infertility Recruiting NCT02932865
44 Reproductive Capacity and Iron Burden in Thalassemia Recruiting NCT02308904 Not Applicable
45 Comparison of Medical Results of Testicular Sperm Extraction by Conventional Surgery and Microsurgical Track Active, not recruiting NCT02773498 Not Applicable
46 Quantitative MRI for Functional Imaging of the Testis: A New Methodology for Evaluation of the Infertile Male Enrolling by invitation NCT02756325 Not Applicable
47 Testis Needle Aspiration of Sperm in Men With Azoospermia Not yet recruiting NCT02418832 Not Applicable
48 TESE and Non Obstructive Azoospermia Not yet recruiting NCT03146260 Not Applicable
49 Identification of Predictive Markers for Testis Cancer in a Population of Men With High Risk Terminated NCT00820287 Not Applicable
50 PET-MRI for Functional Imaging of the Testis: A Feasibility Study Withdrawn NCT02669108 Not Applicable

Search NIH Clinical Center for Azoospermia

Cochrane evidence based reviews: azoospermia

Genetic Tests for Azoospermia

Genetic tests related to Azoospermia:

# Genetic test Affiliating Genes
1 Azoospermia 29

Anatomical Context for Azoospermia

MalaCards organs/tissues related to Azoospermia:

41
Testis, Testes, Liver, Bone, Bone Marrow, Prostate, Spinal Cord

Publications for Azoospermia

Articles related to Azoospermia:

(show top 50) (show all 937)
# Title Authors Year
1
Predictive factors of successful salvage microdissection testicular sperm extraction (mTESE) after failed mTESE in patients with non-obstructive azoospermia: Long-term experience at a single institute. ( 29974724 )
2018
2
Diffusion tensor imaging parameters in testes with nonobstructive azoospermia. ( 29659092 )
2018
3
Exosomal microRNAs in seminal plasma are markers of the origin of azoospermia and can predict the presence of sperm in testicular tissue. ( 29635626 )
2018
4
Sperm retrieval rate and reproductive outcome of infertile men with azoospermia factor c deletion. ( 29920741 )
2018
5
Assessment of the use of contrast enhanced ultrasound in guiding microdissection testicular sperm extraction in nonobstructive azoospermia. ( 29792185 )
2018
6
Investigation of piwi-interacting RNA pathway genes role in idiopathic non-obstructive azoospermia. ( 29317647 )
2018
7
Successful onco-testicular sperm extraction from a testicular cancer patient with a single testis and azoospermia. ( 29662825 )
2018
8
Clinical comparison between conventional and microdissection testicular sperm extraction for non-obstructive azoospermia: Understanding which treatment works for which patient. ( 29974723 )
2018
9
Usefulness of Testicular Volume, Apparent Diffusion Coefficient, and Normalized Apparent Diffusion Coefficient in the MRI Evaluation of Infertile Men With Azoospermia. ( 29364721 )
2018
10
Re: Fertility Outcomes after Extended Searches for Ejaculated Spermatozoa in Men with Virtual Azoospermia. ( 29642333 )
2018
11
Do body mass index, hormone profile and testicular volume effect sperm retrieval rates of microsurgical sperm extraction in the patients with nonobstructive azoospermia? ( 29733793 )
2018
12
Heterogenicity of testicular histopathology and tubules as a predictor of successful microdissection testicular sperm extraction in men with nonobstructive azoospermia. ( 29851822 )
2018
13
Azoospermia and embryo morphokinetics: testicular sperm-derived embryos exhibit delays in early cell cycle events and increased arrest prior to compaction. ( 29785530 )
2018
14
From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia. ( 29904161 )
2018
15
An Association Study between Longitudinal Changes of Leukocyte Telomere and the Risk of Azoospermia in a Population of Iranian Infertile Men ( 29704891 )
2018
16
Association of rs1057035polymorphism in microRNA biogenesis pathway gene (DICER1) with azoospermia among Iranian population. ( 29892896 )
2018
17
Relevance of testicular histopathology on prediction of sperm retrieval rates in case of non-obstructive and obstructive azoospermia. ( 29846141 )
2018
18
Analysis of CDK2 mutations in Chinese men with non-obstructive azoospermia who underwent testis biopsy. ( 29373224 )
2018
19
Comparison of intracytoplasmic sperm injection outcome with fresh versus frozen-thawed testicular sperm in men with nonobstructive azoospermia: a systematic review and meta-analysis. ( 29785532 )
2018
20
Re: Fertility Outcomes After Extended Searches for Ejaculated Spermatozoa in Men with Virtual Azoospermia. ( 29162350 )
2018
21
ADAMTS1 and ADAMTS5 metalloproteases produced by Sertoli cells: a potential diagnostic marker in azoospermia. ( 29737873 )
2018
22
Microdissection testicular sperm extraction (micro-TESE): Predictive value of preoperative hormonal levels and pathology in non-obstructive azoospermia. ( 29413225 )
2018
23
Transplantation of Spermatogonial Stem Cells Suspension into Rete Testis of Azoospermia Mouse Model. ( 29250763 )
2018
24
Primary Ovarian Insufficiency and Azoospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation. ( 29240891 )
2018
25
Association of the common SNPs in RNF212, STAG3 and RFX2 gene with male infertility with azoospermia in Chinese population. ( 29277047 )
2018
26
Expression analysis of genes encoding TEX11, TEX12, TEX14 and TEX15 in testis tissues of men with non-obstructive azoospermia. ( 29932616 )
2018
27
Surgical management of azoospermia: can the NHS England Clinical Commissioning Policy reduce geographical inequality of services? ( 29105258 )
2018
28
A novel TEX11 mutation induces azoospermia: a case report of infertile brothers and literature review. ( 29661171 )
2018
29
Chromosomal abnormalities in infertile men with azoospermia and severe oligozoospermia in Qatar and their association with sperm retrieval intracytoplasmic sperm injection outcomes. ( 29713544 )
2018
30
<i>DMC1</i> mutation that causes human non-obstructive azoospermia and premature ovarian insufficiency identified by whole-exome sequencing. ( 29331980 )
2018
31
Relationship of genetic causes and inhibin B in non obstructive azoospermia spermatogenic failure. ( 28874128 )
2017
32
Single-nucleotide polymorphisms in the human RAD21L gene may be a genetic risk factor for Japanese patients with azoospermia caused by meiotic arrest and Sertoli cell-only syndrome. ( 28635411 )
2017
33
Evidence for the involvement of the proximal copy of the MAGEA9 gene in Xq28-linked CNV67 specific to spermatogenic failure. ( 28339631 )
2017
34
Reduced microRNA-188-3p expression contributes to apoptosis of spermatogenic cells in patients with azoospermia. ( 27868267 )
2017
35
Duplication of Yq- and proximal Yp-arms with deletion of almost all PAR1 (including SHOX) in a young man with non-obstructive azoospermia, short stature and skeletal defects. ( 29019057 )
2017
36
Screening of Two Neighboring CFTR Mutations in Iranian Infertile Men with Non-Obstructive Azoospermia. ( 28042420 )
2017
37
Human PIWI (HIWI) is an azoospermia factor. ( 28801861 )
2017
38
SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia inA homozygotes. ( 28554943 )
2017
39
Paternal age as an independent factor does not affect embryo quality and pregnancy outcomes of testicular sperm extraction-intracytoplasmic sperm injection in azoospermia. ( 28703337 )
2017
40
A step-by-step guide to office-based sperm retrieval for obstructive azoospermia. ( 28904906 )
2017
41
A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family. ( 28401488 )
2017
42
Y Chromosome Microdeletions in Infertile Men with Non-obstructive Azoospermia and Severe Oligozoospermia. ( 29062795 )
2017
43
Distribution and number of Cajal-like cells in testis tissue with azoospermia. ( 28359405 )
2017
44
The Prevalence of Y Chromosome Microdeletions in Iranian Infertile Men with Azoospermia and Severe Oligospermia. ( 28367414 )
2017
45
CFTR gene mutations and polymorphism are associated with non-obstructive azoospermia: From case-control study. ( 28456595 )
2017
46
Does cryopreservation of sperm affect fertilization in nonobstructive azoospermia or cryptozoospermia? ( 28392002 )
2017
47
A familial study of azoospermic men identifies three novel causative mutations in three new human azoospermia genes. ( 28206990 )
2017
48
Association of CYP1A1*2A Polymorphism with Idiopathic Non-Obstructive Azoospermia in A South Indian Cohort. ( 28868835 )
2017
49
Embryonic stem cell derived germ cells induce spermatogenesis after transplantation into the testes of an adult mouse azoospermia model. ( 28768794 )
2017
50
Biological therapy for non-obstructive azoospermia. ( 28927307 )
2017

Variations for Azoospermia

ClinVar genetic disease variations for Azoospermia:

6
(show top 50) (show all 100)
# Gene Variation Type Significance SNP ID Assembly Location
1 DAZL NM_001351.3(DAZL): c.160A> G (p.Thr54Ala) single nucleotide variant risk factor rs121918346 GRCh37 Chromosome 3, 16639676: 16639676
2 DAZL NM_001351.3(DAZL): c.160A> G (p.Thr54Ala) single nucleotide variant risk factor rs121918346 GRCh38 Chromosome 3, 16598169: 16598169
3 46;XY;t(7;8)(p12.3;p11.2)dn Translocation Pathogenic
4 46;XY;t(12;14)(q15;q13)mat Translocation Uncertain significance
5 SPATA16 NM_031955.5(SPATA16): c.1526C> T (p.Ala509Val) single nucleotide variant Uncertain significance rs115095786 GRCh37 Chromosome 3, 172631512: 172631512
6 SPATA16 NM_031955.5(SPATA16): c.1526C> T (p.Ala509Val) single nucleotide variant Uncertain significance rs115095786 GRCh38 Chromosome 3, 172913722: 172913722
7 SPATA16 NM_031955.5(SPATA16): c.1117G> A (p.Asp373Asn) single nucleotide variant Uncertain significance rs763912965 GRCh38 Chromosome 3, 172925457: 172925457
8 SPATA16 NM_031955.5(SPATA16): c.1117G> A (p.Asp373Asn) single nucleotide variant Uncertain significance rs763912965 GRCh37 Chromosome 3, 172643247: 172643247
9 SPATA16 NM_031955.5(SPATA16): c.848+15delA deletion Uncertain significance rs143941722 GRCh38 Chromosome 3, 173019471: 173019471
10 SPATA16 NM_031955.5(SPATA16): c.848+15delA deletion Uncertain significance rs143941722 GRCh37 Chromosome 3, 172737261: 172737261
11 SPATA16 NM_031955.5(SPATA16): c.576C> T (p.Tyr192=) single nucleotide variant Uncertain significance rs146363552 GRCh38 Chromosome 3, 173117156: 173117156
12 SPATA16 NM_031955.5(SPATA16): c.576C> T (p.Tyr192=) single nucleotide variant Uncertain significance rs146363552 GRCh37 Chromosome 3, 172834946: 172834946
13 SPATA16 NM_031955.5(SPATA16): c.105G> A (p.Ala35=) single nucleotide variant Uncertain significance rs141312480 GRCh38 Chromosome 3, 173117627: 173117627
14 SPATA16 NM_031955.5(SPATA16): c.105G> A (p.Ala35=) single nucleotide variant Uncertain significance rs141312480 GRCh37 Chromosome 3, 172835417: 172835417
15 SPATA16 NM_031955.5(SPATA16): c.-121G> A single nucleotide variant Uncertain significance rs189972919 GRCh38 Chromosome 3, 173141205: 173141205
16 SPATA16 NM_031955.5(SPATA16): c.-121G> A single nucleotide variant Uncertain significance rs189972919 GRCh37 Chromosome 3, 172858995: 172858995
17 SPATA16 NM_031955.5(SPATA16): c.-142G> A single nucleotide variant Uncertain significance rs566046620 GRCh38 Chromosome 3, 173141226: 173141226
18 SPATA16 NM_031955.5(SPATA16): c.-142G> A single nucleotide variant Uncertain significance rs566046620 GRCh37 Chromosome 3, 172859016: 172859016
19 SPATA16 NM_031955.5(SPATA16): c.1401G> T (p.Gln467His) single nucleotide variant Uncertain significance rs143774140 GRCh38 Chromosome 3, 172916419: 172916419
20 SPATA16 NM_031955.5(SPATA16): c.1401G> T (p.Gln467His) single nucleotide variant Uncertain significance rs143774140 GRCh37 Chromosome 3, 172634209: 172634209
21 SPATA16 NM_031955.5(SPATA16): c.1143A> G (p.Gln381=) single nucleotide variant Uncertain significance rs73041295 GRCh38 Chromosome 3, 172925431: 172925431
22 SPATA16 NM_031955.5(SPATA16): c.1143A> G (p.Gln381=) single nucleotide variant Uncertain significance rs73041295 GRCh37 Chromosome 3, 172643221: 172643221
23 SPATA16 NM_031955.5(SPATA16): c.440G> A (p.Gly147Glu) single nucleotide variant Likely benign rs16846616 GRCh38 Chromosome 3, 173117292: 173117292
24 SPATA16 NM_031955.5(SPATA16): c.440G> A (p.Gly147Glu) single nucleotide variant Likely benign rs16846616 GRCh37 Chromosome 3, 172835082: 172835082
25 SPATA16 NM_031955.5(SPATA16): c.397A> G (p.Met133Val) single nucleotide variant Benign rs1515442 GRCh38 Chromosome 3, 173117335: 173117335
26 SPATA16 NM_031955.5(SPATA16): c.397A> G (p.Met133Val) single nucleotide variant Benign rs1515442 GRCh37 Chromosome 3, 172835125: 172835125
27 SPATA16 NM_031955.5(SPATA16): c.232G> A (p.Glu78Lys) single nucleotide variant Likely benign rs1515441 GRCh38 Chromosome 3, 173117500: 173117500
28 SPATA16 NM_031955.5(SPATA16): c.232G> A (p.Glu78Lys) single nucleotide variant Likely benign rs1515441 GRCh37 Chromosome 3, 172835290: 172835290
29 SPATA16 NM_031955.5(SPATA16): c.149A> G (p.Asn50Ser) single nucleotide variant Uncertain significance rs16846624 GRCh38 Chromosome 3, 173117583: 173117583
30 SPATA16 NM_031955.5(SPATA16): c.149A> G (p.Asn50Ser) single nucleotide variant Uncertain significance rs16846624 GRCh37 Chromosome 3, 172835373: 172835373
31 SPATA16 NM_031955.5(SPATA16): c.130T> A (p.Ser44Thr) single nucleotide variant Likely benign rs146572379 GRCh38 Chromosome 3, 173117602: 173117602
32 SPATA16 NM_031955.5(SPATA16): c.130T> A (p.Ser44Thr) single nucleotide variant Likely benign rs146572379 GRCh37 Chromosome 3, 172835392: 172835392
33 SPATA16 NM_031955.5(SPATA16): c.104C> T (p.Ala35Val) single nucleotide variant Uncertain significance rs200483368 GRCh38 Chromosome 3, 173117628: 173117628
34 SPATA16 NM_031955.5(SPATA16): c.104C> T (p.Ala35Val) single nucleotide variant Uncertain significance rs200483368 GRCh37 Chromosome 3, 172835418: 172835418
35 SPATA16 NM_031955.5(SPATA16): c.25T> C (p.Leu9=) single nucleotide variant Uncertain significance rs150041488 GRCh38 Chromosome 3, 173117707: 173117707
36 SPATA16 NM_031955.5(SPATA16): c.25T> C (p.Leu9=) single nucleotide variant Uncertain significance rs150041488 GRCh37 Chromosome 3, 172835497: 172835497
37 SPATA16 NM_031955.5(SPATA16): c.1365G> T (p.Val455=) single nucleotide variant Uncertain significance rs199707743 GRCh38 Chromosome 3, 172916455: 172916455
38 SPATA16 NM_031955.5(SPATA16): c.1365G> T (p.Val455=) single nucleotide variant Uncertain significance rs199707743 GRCh37 Chromosome 3, 172634245: 172634245
39 SPATA16 NM_031955.5(SPATA16): c.873G> A (p.Met291Ile) single nucleotide variant Uncertain significance rs368670834 GRCh38 Chromosome 3, 172977028: 172977028
40 SPATA16 NM_031955.5(SPATA16): c.873G> A (p.Met291Ile) single nucleotide variant Uncertain significance rs368670834 GRCh37 Chromosome 3, 172694818: 172694818
41 SPATA16 NM_031955.5(SPATA16): c.828G> A (p.Glu276=) single nucleotide variant Uncertain significance rs776236874 GRCh38 Chromosome 3, 173019506: 173019506
42 SPATA16 NM_031955.5(SPATA16): c.828G> A (p.Glu276=) single nucleotide variant Uncertain significance rs776236874 GRCh37 Chromosome 3, 172737296: 172737296
43 SPATA16 NM_031955.5(SPATA16): c.720G> A (p.Arg240=) single nucleotide variant Likely benign rs55724801 GRCh38 Chromosome 3, 173048987: 173048987
44 SPATA16 NM_031955.5(SPATA16): c.720G> A (p.Arg240=) single nucleotide variant Likely benign rs55724801 GRCh37 Chromosome 3, 172766777: 172766777
45 SPATA16 NM_031955.5(SPATA16): c.546T> C (p.Asp182=) single nucleotide variant Uncertain significance rs886058187 GRCh38 Chromosome 3, 173117186: 173117186
46 SPATA16 NM_031955.5(SPATA16): c.546T> C (p.Asp182=) single nucleotide variant Uncertain significance rs886058187 GRCh37 Chromosome 3, 172834976: 172834976
47 SPATA16 NM_031955.5(SPATA16): c.430A> C (p.Met144Leu) single nucleotide variant Uncertain significance rs140920981 GRCh38 Chromosome 3, 173117302: 173117302
48 SPATA16 NM_031955.5(SPATA16): c.430A> C (p.Met144Leu) single nucleotide variant Uncertain significance rs140920981 GRCh37 Chromosome 3, 172835092: 172835092
49 SPATA16 NM_031955.5(SPATA16): c.91A> T (p.Met31Leu) single nucleotide variant Uncertain significance rs200087565 GRCh37 Chromosome 3, 172835431: 172835431
50 SPATA16 NM_031955.5(SPATA16): c.91A> T (p.Met31Leu) single nucleotide variant Uncertain significance rs200087565 GRCh38 Chromosome 3, 173117641: 173117641

Copy number variations for Azoospermia from CNVD:

7 (show all 15)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 218759 7 116907252 117095954 Genomic rearrangement CFTR Azoospermia
2 266752 Y 1 57772954 Microdeletion Azoospermia
3 266760 Y 1 57772954 Microdeletions Azoospermia
4 266846 Y 11300000 57772954 Microdeletio Azoospermia
5 266849 Y 11300000 57772954 Microdeletion Azoospermia
6 266862 Y 11300000 57772954 Microdeletion DAZ Azoospermia
7 266959 Y 174481503 174538309 Deletion AZF Spermatogenic Failure
8 266963 Y 174481503 174538309 Microdeletion AZF Azoospermia
9 266968 Y 174481503 174538309 Microdeletion AZFA Azoospermia
10 266969 Y 174481503 174538309 Microdeletion AZFA Azoospermia
11 267104 Y 23539797 25607639 Deletion BPY2 Azoospermia
12 267118 Y 23684889 23754627 Deletion DAZ Azoospermia
13 267153 Y 24600763 26180436 Deletion CDY1 Azoospermia
14 267157 Y 24738968 26042240 Deletion CSPG4LY Azoospermia
15 267158 Y 24765501 26015710 Deletion GOLGA2LY Azoospermia

Expression for Azoospermia

Search GEO for disease gene expression data for Azoospermia.

Pathways for Azoospermia

GO Terms for Azoospermia

Cellular components related to Azoospermia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.97 AR BOLL DAZ1 DAZ2 DAZ3 DAZ4
2 protein-containing complex GO:0032991 9.17 AR DAZ1 DAZ2 DAZ3 DAZ4 DAZAP1
3 synaptonemal complex GO:0000795 8.96 FKBP6 SYCP3

Biological processes related to Azoospermia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.97 BOLL DAZ1 DAZ2 DAZ3 DAZ4 DAZAP1
2 cell differentiation GO:0030154 9.97 BOLL DAZ1 DAZ2 DAZ3 DAZ4 DAZAP1
3 germ cell development GO:0007281 9.73 BOLL DAZ1 DAZ2 DAZ3 DAZ4 DAZL
4 spermatogenesis GO:0007283 9.7 AR BOLL DAZ1 DAZ2 DAZ3 DAZ4
5 positive regulation of translational initiation GO:0045948 9.63 BOLL DAZ1 DAZ2 DAZ3 DAZ4 DAZL
6 meiotic cell cycle GO:0051321 9.58 BOLL FKBP6 SYCP3
7 3-UTR-mediated mRNA stabilization GO:0070935 9.1 BOLL DAZ1 DAZ2 DAZ3 DAZ4 DAZL

Molecular functions related to Azoospermia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.91 BOLL DAZ1 DAZ2 DAZ3 DAZ4 DAZAP1
2 mRNA binding GO:0003729 9.7 BOLL DAZ1 DAZ2 DAZ3 DAZ4 DAZL
3 mRNA 3-UTR binding GO:0003730 9.43 BOLL DAZ1 DAZ2 DAZ3 DAZ4 DAZL
4 translation activator activity GO:0008494 9.1 BOLL DAZ1 DAZ2 DAZ3 DAZ4 DAZL

Sources for Azoospermia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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