MCID: AZS001
MIFTS: 47

Azoospermia

Categories: Reproductive diseases

Aliases & Classifications for Azoospermia

MalaCards integrated aliases for Azoospermia:

Name: Azoospermia 12 38 30 56 6 45 15 17 74
Spermatogenic Failure 12 38 6 41
Spermatogenic Failure, Susceptibility to 13 6

Classifications:



External Ids:

Disease Ontology 12 DOID:14227
ICD9CM 36 606.0
MeSH 45 D053713
NCIt 51 C80076
SNOMED-CT 69 48188009
ICD10 34 N46.0 N46.01
UMLS 74 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 Sodium Citrate have been mentioned in the context of this disorder. Affiliated tissues include testis, testes and prostate, and related phenotypes are endocrine/exocrine gland and reproductive system

Wikipedia : 77 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 162)
# Related Disease Score Top Affiliating Genes
1 spermatogenic failure 4 33.5 AR SYCP3
2 spermatogenic failure, y-linked, 2 32.1 DAZ1 DAZ2 DAZ3 DAZ4 DDX3Y RBMY1A1
3 spermatogenic failure, x-linked, 1 31.8 DAZ1 DAZ4 DAZL DDX3Y RBMY1A1 USP9Y
4 oligospermia 31.0 AR DAZ1 DAZ4
5 cryptorchidism, unilateral or bilateral 30.4 AR AZF1 DAZ1
6 oligoasthenoteratozoospermia 30.1 AR DAZL
7 infertility 30.1 DAZ1 DAZ4 DAZL DDX3Y FSHB TEX15
8 testicular germ cell cancer 29.5 AR RBMY1A1
9 male infertility 29.3 AR BOLL DAZ1 DAZ2 DAZ3 DAZ4
10 spermatogenic failure 10 12.6
11 spermatogenic failure 9 12.6
12 spermatogenic failure 6 12.6
13 spermatogenic failure 11 12.6
14 spermatogenic failure 16 12.5
15 spermatogenic failure 18 12.5
16 spermatogenic failure 19 12.5
17 spermatogenic failure 5 12.5
18 spermatogenic failure 20 12.5
19 spermatogenic failure 21 12.5
20 spermatogenic failure 7 12.5
21 morbid obesity and spermatogenic failure 12.5
22 spermatogenic failure 24 12.5
23 spermatogenic failure 33 12.5
24 spermatogenic failure 34 12.5
25 spermatogenic failure 17 12.5
26 spermatogenic failure 26 12.5
27 spermatogenic failure 27 12.5
28 spermatogenic failure 31 12.5
29 spermatogenic failure 35 12.5
30 spermatogenic failure 1 12.4
31 spermatogenic failure 36 12.4
32 spermatogenic failure 37 12.4
33 spermatogenic failure, y-linked, 1 12.3
34 spermatogenic failure 38 12.2
35 y chromosome infertility 12.1
36 young syndrome 11.9
37 spinocerebellar ataxia 32 11.6
38 spermatogenic failure 15 11.5
39 spermatogenic failure 22 11.5
40 spermatogenic failure 23 11.5
41 spermatogenic failure 32 11.4
42 spermatogenic failure, x-linked, 2 11.4
43 spermatogenic failure 13 11.4
44 spermatogenic failure 14 11.4
45 spermatogenic failure 25 11.4
46 spermatogenic failure 28 11.4
47 spermatogenic failure 29 11.4
48 spermatogenic failure 30 11.4
49 macrozoospermia 11.3
50 vas deferens, congenital bilateral aplasia of 11.3

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

MGI Mouse Phenotypes related to Azoospermia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.56 AR BOLL DAZ2 FKBP6 FSHB SOHLH1
2 reproductive system MP:0005389 9.23 AR BOLL DAZ2 FKBP6 FSHB SOHLH1

Drugs & Therapeutics for Azoospermia

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

(show top 50) (show all 85)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4 657-24-9 14219 4091
2
Sodium Citrate Approved, Investigational Phase 4,Phase 3,Not Applicable 68-04-2
3
Testosterone undecanoate Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 5949-44-0
4
Testosterone enanthate Approved Phase 4,Phase 2,Phase 3,Phase 1 315-37-7 9416
5
Methyltestosterone Approved Phase 4,Phase 2,Phase 3,Phase 1 58-18-4 6010
6
Polyestradiol phosphate Approved Phase 4,Not Applicable 28014-46-2
7
Testosterone Approved, Experimental, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 58-22-0, 481-30-1 10204 6013
8
Estradiol Approved, Investigational, Vet_approved Phase 4,Not Applicable 50-28-2 5757
9
Calcium Approved, Nutraceutical Phase 4,Phase 3,Not Applicable 7440-70-2 271
10
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Not Applicable 77-92-9 311
11
Ginseng Approved, Investigational, Nutraceutical Phase 4 50647-08-0
12
Enclomiphene Investigational Phase 4,Phase 3,Not Applicable 15690-57-0
13 Estrogen Receptor Modulators Phase 4,Phase 3,Not Applicable
14 insulin Phase 4,Not Applicable
15 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
16 Estrogen Receptor Antagonists Phase 4,Phase 3,Not Applicable
17 Selective Estrogen Receptor Modulators Phase 4,Phase 3,Not Applicable
18 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
19 Estrogen Antagonists Phase 4,Phase 3,Not Applicable
20 Zuclomiphene Phase 4,Phase 3,Not Applicable
21 Hypoglycemic Agents Phase 4,Not Applicable
22 Chorionic Gonadotropin Phase 4,Phase 2
23 Calcium, Dietary Phase 4,Phase 3,Not Applicable
24 Anticoagulants Phase 4,Phase 3,Not Applicable
25 Chelating Agents Phase 4,Phase 3,Not Applicable
26 Insulin, Globin Zinc Phase 4,Not Applicable
27 Clomiphene Phase 4,Phase 3,Not Applicable
28 Estrogens Phase 4,Phase 3,Not Applicable
29 Fertility Agents Phase 4,Phase 3,Not Applicable
30 Citrate Phase 4,Phase 3,Not Applicable
31 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
32 Antineoplastic Agents, Hormonal Phase 4,Phase 2,Phase 3,Phase 1
33 Follicle Stimulating Hormone Phase 4,Phase 3
34 Androgens Phase 4,Phase 2,Phase 3,Phase 1
35 Estradiol 3-benzoate Phase 4,Not Applicable
36 Anabolic Agents Phase 4,Phase 2,Phase 3,Phase 1
37 Testosterone 17 beta-cypionate Phase 4,Phase 2,Phase 3,Phase 1
38 Estradiol 17 beta-cypionate Phase 4,Not Applicable
39
Letrozole Approved, Investigational Phase 3 112809-51-5 3902
40
Castor oil Approved, Investigational, Nutraceutical, Vet_approved Phase 2, Phase 3 8001-79-4
41 Steroid Synthesis Inhibitors Phase 3
42 Aromatase Inhibitors Phase 3
43 Laxatives Phase 2, Phase 3
44 Castor Phase 2, Phase 3
45 Cathartics Phase 2, Phase 3
46 Gastrointestinal Agents Phase 2, Phase 3
47
Goserelin Approved Phase 2 65807-02-5 5311128 47725
48
Isotretinoin Approved Phase 2 4759-48-2 5282379 5538
49
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 444795 5538
50 Contraceptive Agents Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 56)
# 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 Interest of Clomiphene Citrate in Patients With Non-obstructive Azoospermia on the Quantity of Sperm Cells Not yet recruiting NCT03615547 Phase 3 Clomifene Citrate
10 GnRHa Combined With hCG and hMG for Treatment of Patients With Non-obstructive Azoospermia Unknown status NCT02544191 Phase 2 GnRHa/ hCG/ hMG
11 Testicular Injection of Autologous Stem Cells for Treatment of Patients With Azoospermia Unknown status NCT02041910 Phase 1, Phase 2
12 MSCs For Treatment of Azoospermic Patients Unknown status NCT02025270 Phase 1, Phase 2
13 RA-4: 13-cis Retinoic Acid for Treatment of Men With Azoospermia Recruiting NCT03323801 Phase 2 13-cis retinoic acid
14 Intra-Testicular Transplantation of Autologous Stem Cells for Treatment of Non-Obstructive Azoospermia Male Infertility. Recruiting NCT02641769 Phase 1, Phase 2
15 Autologous Adipose-Derived Adult Stromal Vascular Cell Administration for Male Patients With Infertility Enrolling by invitation NCT03762967 Phase 2 Standard therapy.
16 Contraception in Normal and Subnormal Men Terminated NCT00167141 Phase 2 injection of hormonal male contraceptive
17 Study of the Safety, and Sperm and Gonadotropin Suppression of a Contraceptive Gel in Normal Men Completed NCT00891228 Phase 1 Testosterone;Nestorone®;Nestorone®;Nestorone®
18 Intra Testicular Artery Injection of Bone Marrow Stem Cell in Management of Azoospermia Unknown status NCT02008799 Not Applicable
19 Outcome of ICSI Using Cryopreserved Testicular Sperm From Infertile Men With Varicocele-associated Azoospermia Unknown status NCT02306499 Not Applicable
20 Spermatogonial Stem Cells in Azoospermic Patients: a Comparison Between Obstructive and Non-obstructive Azoospermia Unknown status NCT01178463
21 The Effect of Low Electrical Current on Testicular Spermatocyte Count Unknown status NCT02617173 Not Applicable
22 Trial to Evaluate Erectile Function, Fertility and Sperm Count in Male Cyclists Compared to Age Matched Controls Unknown status NCT00282477
23 Modern Analyses of the Semen in Evaluating Male Fertility and Treatment Options of Male Infertility Unknown status NCT02932865
24 Isolation of the Spermatic Cord in Mesh Inguinal Hernia Repair Unknown status NCT01391455 Not Applicable
25 A Preliminary Study on Effect of Omega-3 on Human Sperm Unknown status NCT00479960 Early Phase 1
26 Estradiol and Testosterone Levels in Seminal Plasma of Men With Non-obstructive Azoospermia Completed NCT02255396
27 Insulin Resistance in Idiopathic Oligospermia and Azoospermia Completed NCT01509482 Not Applicable
28 Microdissection Testicular Sperm Extraction (MicroTESE) and IVF-ICSI Outcome in Non-Obstructive Azoospermia (NOA) Completed NCT00484081 Not Applicable
29 The Acceptance, Safety, and Efficacy of MadaJet Versus Needle Injection for Sperm Retrieval in Patients With Azoospermia Completed NCT03181243 Not Applicable
30 Study of Synapsis and Recombination in Male Meiosis and the Implications in Infertility Completed NCT02339272
31 Sperm Production in Kleinfelter Syndrome Patients After Mesenchymal Stem Cell Injection Completed NCT02414295 Not Applicable Mesenchymal stem cell injection
32 HPV as a Possible Cause of Azoospermia Completed NCT02329275
33 Obtaining Undifferentiated Cells From Testis Biopsy Completed NCT01375062 Not Applicable
34 Genetic Studies Spermatogenic Failure Completed NCT00548977
35 Chromosomal and Morphological Structure of Mature and Immature Male Germ Cells and Recognition of IL-18 in Testicular Tissue of Azoospermic Men Completed NCT00544089
36 Testicular Function After Iodine 131 Therapy in Papillary Carcinoma Patients Completed NCT01150318 Not Applicable Administration of 131 iodine
37 Role of the Toxic Metal Cadmium in the Mechanism Producing Infertility With a Varicocele Completed NCT00044369
38 Testis Needle Aspiration of Sperm in Men With Azoospermia Recruiting NCT02418832 Not Applicable
39 Detection of Microdeletions in the Azoospermia Factor (AZF) Regions in Infertile Male Patients Recruiting NCT03497728
40 Secretory Azoospermia and FDG (Fluoro Deoxyglucose) PET-CT Recruiting NCT02043444 Not Applicable
41 Retrieval of Sperm From Men With Azoospermia Using Ultrasound-guided Rete Testis Aspiration Recruiting NCT03291522
42 Assessing the Efficacy of Clomiphene Citrate in Patients With Azoospermia and Hypoandrogenism Recruiting NCT02137265 Not Applicable Clomiphene;Placebo
43 Surgical Sperm Retrieval in Non-obstructive Azoospermic Men: mTESE vs. TESA Recruiting NCT03550716 Not Applicable
44 Comparison of Medical Results of Testicular Sperm Extraction by Conventional Surgery and Microsurgical Track Recruiting NCT02773498 Not Applicable
45 The Potential of Sperm Retrieved by Micro-TESE to Fertilize Vitrified/Warmed Oocytes Recruiting NCT03809026
46 Treatment of Severe Male Infertility - Predictive Factors (Imaging) Recruiting NCT02931721
47 Reproductive Capacity and Iron Burden in Thalassemia Recruiting NCT02308904 Not Applicable
48 Treatment of Intrauterine Adhesions and Its Distribution of Genital Tract Flora Recruiting NCT03731689 Not Applicable Intrauterine lavage therapy;Intrauterine gel-injection therapy
49 Fertility Preservation in Cases of Klinefelter Syndrome. Active, not recruiting NCT01918280 Not Applicable
50 Use of Semen TEX101 to Improve Sperm Retrieval Rates for Men With Non-obstructive Azoospermia Enrolling by invitation NCT02851966 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 30

Anatomical Context for Azoospermia

MalaCards organs/tissues related to Azoospermia:

42
Testis, Testes, Prostate, Kidney, Bone, Liver, Bone Marrow

Publications for Azoospermia

Articles related to Azoospermia:

(show top 50) (show all 1552)
# Title Authors Year
1
A novel frameshift PKD1 mutation in a Chinese patient with autosomal dominant polycystic kidney disease and azoospermia: A case report. ( 30651829 )
2019
2
ADAMTS1 and ADAMTS5 metalloproteases produced by Sertoli cells: a potential diagnostic marker in azoospermia. ( 29737873 )
2019
3
From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia. ( 29904161 )
2019
4
A Survey of the Common Mutations and IVS8-Tn Polymorphism of Cystic Fibrosis Transmembrane Conductance Regulator Gene in Infertile Men with Nonobstructive Azoospermia and CBAVD in Iranian Population ( 29986553 )
2019
5
The seminiferous tubule caliber pattern as evaluated at high magnification during microdissection testicular sperm extraction predicts sperm retrieval in patients with non-obstructive azoospermia. ( 30259683 )
2019
6
Identification and functional analysis of spermatogenesis-associated gene modules in azoospermia by weighted gene coexpression network analysis. ( 30269365 )
2019
7
Investigation of treatment for azoospermia due to male hypogonadotropic hypogonadism in Japan. ( 30302833 )
2019
8
A novel stopgain mutation c.G992A (p.W331X) in TACR3 gene was identified in nonobstructive azoospermia by targeted next-generation sequencing. ( 30390321 )
2019
9
MicroRNA profile comparison of testicular tissues derived from successful and unsuccessful microdissection testicular sperm extraction retrieval in non-obstructive azoospermia patients. ( 30423284 )
2019
10
XRCC2 mutation causes premature ovarian insufficiency as well as non-obstructive azoospermia in humans. ( 30489636 )
2019
11
Fine mapping the MHC region identified rs4997052 as a new variant associated with nonobstructive azoospermia in Han Chinese males. ( 30502936 )
2019
12
Testicular Fine-Needle Aspiration for Sperm Retrieval in Azoospermia: A Small Step toward the Technical Standardization. ( 30584991 )
2019
13
Raman spectroscopic method for semen identification: Azoospermia. ( 30609548 )
2019
14
Molecular and cytogenetic analysis of infertile Hakka men with azoospermia and severe oligozoospermia in southern China. ( 30614339 )
2019
15
Is azoospermia the appropriate standard for post-vasectomy semen analysis? Or an unachievable goal of best practice laboratory guidelines. ( 30634870 )
2019
16
FSHB -211 G>T Polymorphism as Predictor for TESE Success in Patients With Unexplained Azoospermia. ( 30668782 )
2019
17
Association of ICAM-1 gene variant rs5498 (1462A>G) with non-obstructive azoospermia. ( 30704307 )
2019
18
Primary testicular neuroendocrine tumor with azoospermia: Extending indications for testicle-sparing surgery. ( 30705829 )
2019
19
A rare case of de novo balanced reciprocal Y:1 chromosomal translocation in patient presenting with azoospermia. ( 30714178 )
2019
20
The poly(A) polymerase beta gene may not be associated with azoospermia caused by Sertoli-cell-only syndrome in Japanese patients by comparing patients and normal controls. ( 30744435 )
2019
21
Hormonal stimulation of spermatogenesis: a new way to treat the infertile male with non-obstructive azoospermia? ( 30756283 )
2019
22
Can Contrast-Enhanced Ultrasound Increase or Predict the Success Rate of Testicular Sperm Aspiration in Patients With Azoospermia? ( 30807223 )
2019
23
Clinical application of cross microsurgical vasovasostomy in scrotum for atypical obstructive azoospermia. ( 30829015 )
2019
24
A new MEIOB mutation is a recurrent cause for azoospermia and testicular meiotic arrest. ( 30838384 )
2019
25
Testicular wedge biopsy for fertility preservation in children at significant risk for azoospermia after gonadotoxic therapy. ( 30853246 )
2019
26
Effects of obesity on sperm retrieval, early embryo quality and clinical outcomes in men with nonobstructive azoospermia undergoing testicular sperm aspiration-intracytoplasmic sperm injection cycles. ( 30854691 )
2019
27
PEX10, SIRPA-SIRPG, and SOX5 gene polymorphisms are strongly associated with nonobstructive azoospermia susceptibility. ( 30863997 )
2019
28
Bilateral versus unilateral cryptorchidism in nonobstructive azoospermia: Testicular sperm extraction outcomes. ( 30880688 )
2019
29
Chloride Channel Accessory 4 (CLCA4) Gene Polymorphisms and Non-Obstructive Azoospermia: A Case-Control Study. ( 30887952 )
2019
30
The Possible Role of XRCC1 Gene Polymorphisms with Idiopathic Non-obstructive Azoospermia in Southeast Turkey. ( 31004343 )
2019
31
Genetic defects in human azoospermia. ( 31024732 )
2019
32
The management of obstructive azoospermia: a committee opinion. ( 31029241 )
2019
33
Decreased expression of DNA methyltransferases in the testes of patients with non-obstructive azoospermia leads to changes in global DNA methylation levels. ( 31030726 )
2019
34
Reinke's crystals in perivascular and peritubular Leydig cells of men with non-obstructive and obstructive azoospermia: a retrospective case control study. ( 31044589 )
2019
35
Loss-of-function mutations in TDRD7 lead to a rare novel syndrome combining congenital cataract and nonobstructive azoospermia in humans. ( 31048812 )
2019
36
Investigation of CD133 and CD24 as candidate azoospermia markers and their relationship with spermatogenesis defects. ( 31054360 )
2019
37
Exogenous oestradiol benzoate induces male mice azoospermia through modulation of oxidative stress and testicular metabolic cooperation. ( 31059031 )
2019
38
Testicular Apparent Diffusion Coefficient and Magnetization Transfer Ratio: Can These MRI Parameters Be Used to Predict Successful Sperm Retrieval in Nonobstructive Azoospermia? ( 31063417 )
2019
39
Comparison of the Histopathological Findings of Testis Tissues of Non-Obstructive Azoospermia with the Findings after Microscopic Testicular Sperm Extraction. ( 31066023 )
2019
40
Re: Shorter Leukocyte Telomere Length is Associated with Risk of Nonobstructive Azoospermia. ( 31067611 )
2019
41
Re: Non-Obstructive Azoospermia and Shortened Leukocyte Telomere Length: Further Evidence Linking Poor Health and Infertility. ( 31067621 )
2019
42
New insights into the genetics of spermatogenic failure: a review of the literature. ( 30656449 )
2019
43
Re: Shorter Leukocyte Telomere Length is Associated with Risk of Nonobstructive Azoospermia. ( 30888904 )
2019
44
Successful onco-testicular sperm extraction from a testicular cancer patient with a single testis and azoospermia. ( 29662825 )
2018
45
An Association Study between Longitudinal Changes of Leukocyte Telomere and the Risk of Azoospermia in a Population of Iranian Infertile Men ( 29704891 )
2018
46
Chromosomal abnormalities in infertile men with azoospermia and severe oligozoospermia in Qatar and their association with sperm retrieval intracytoplasmic sperm injection outcomes. ( 29713544 )
2018
47
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
48
Azoospermia and embryo morphokinetics: testicular sperm-derived embryos exhibit delays in early cell cycle events and increased arrest prior to compaction. ( 29785530 )
2018
49
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
50
Assessment of the use of contrast enhanced ultrasound in guiding microdissection testicular sperm extraction in nonobstructive azoospermia. ( 29792185 )
2018

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 GRCh38 Chromosome 3, 172913722: 172913722
6 SPATA16 NM_031955.5(SPATA16): c.1526C> T (p.Ala509Val) single nucleotide variant Uncertain significance rs115095786 GRCh37 Chromosome 3, 172631512: 172631512
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.-159C> A single nucleotide variant Uncertain significance rs528313469 GRCh37 Chromosome 3, 172859033: 172859033
38 SPATA16 NM_031955.5(SPATA16): c.1513C> T (p.Leu505=) single nucleotide variant Uncertain significance rs758141708 GRCh38 Chromosome 3, 172913735: 172913735
39 SPATA16 NM_031955.5(SPATA16): c.1513C> T (p.Leu505=) single nucleotide variant Uncertain significance rs758141708 GRCh37 Chromosome 3, 172631525: 172631525
40 SPATA16 NM_031955.5(SPATA16): c.1324A> G (p.Ser442Gly) single nucleotide variant Uncertain significance rs886058186 GRCh38 Chromosome 3, 172924222: 172924222
41 SPATA16 NM_031955.5(SPATA16): c.1324A> G (p.Ser442Gly) single nucleotide variant Uncertain significance rs886058186 GRCh37 Chromosome 3, 172642012: 172642012
42 SPATA16 NM_031955.5(SPATA16): c.995C> T (p.Ala332Val) single nucleotide variant Uncertain significance rs544088248 GRCh38 Chromosome 3, 172956763: 172956763
43 SPATA16 NM_031955.5(SPATA16): c.995C> T (p.Ala332Val) single nucleotide variant Uncertain significance rs544088248 GRCh37 Chromosome 3, 172674553: 172674553
44 SPATA16 NM_031955.5(SPATA16): c.675C> T (p.Ser225=) single nucleotide variant Likely benign rs508508 GRCh38 Chromosome 3, 173049032: 173049032
45 SPATA16 NM_031955.5(SPATA16): c.675C> T (p.Ser225=) single nucleotide variant Likely benign rs508508 GRCh37 Chromosome 3, 172766822: 172766822
46 SPATA16 NM_031955.5(SPATA16): c.328A> C (p.Met110Leu) single nucleotide variant Uncertain significance rs147011314 GRCh38 Chromosome 3, 173117404: 173117404
47 SPATA16 NM_031955.5(SPATA16): c.328A> C (p.Met110Leu) single nucleotide variant Uncertain significance rs147011314 GRCh37 Chromosome 3, 172835194: 172835194
48 SYCP3 NM_153694.4(SYCP3): c.*241_*244delCTCT deletion Likely benign rs370467855 GRCh38 Chromosome 12, 101728683: 101728686
49 SYCP3 NM_153694.4(SYCP3): c.*241_*244delCTCT deletion Likely benign rs370467855 GRCh37 Chromosome 12, 102122461: 102122464
50 AURKC NM_001015878.1(AURKC): c.-99dupC duplication Conflicting interpretations of pathogenicity rs74179426 GRCh38 Chromosome 19, 57231150: 57231150

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 nucleus GO:0005634 9.97 AR DAZ1 DAZ2 DAZ3 DAZ4 DAZAP1
2 cytoplasm GO:0005737 9.8 AR BOLL DAZ1 DAZ2 DAZ3 DAZ4
3 synaptonemal complex GO:0000795 9.26 FKBP6 SYCP3
4 protein-containing complex GO:0032991 9.17 AR DAZ1 DAZ2 DAZ3 DAZ4 DAZAP1

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

# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.96 BOLL DAZ1 DAZ2 DAZ3 DAZ4 DAZAP1
2 multicellular organism development GO:0007275 9.92 BOLL DAZ1 DAZ2 DAZ3 DAZ4 DAZAP1
3 meiotic cell cycle GO:0051321 9.67 BOLL FKBP6 SYCP3 TEX15
4 germ cell development GO:0007281 9.63 BOLL DAZ1 DAZ2 DAZ3 DAZ4 DAZL
5 spermatogenesis GO:0007283 9.44 AR BOLL DAZ1 DAZ2 DAZ3 DAZ4
6 positive regulation of translational initiation GO:0045948 9.43 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 9.5 BOLL DAZ1 DAZ2 DAZ3 DAZ4 DAZAP1
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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