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MCID: AZS001
MIFTS: 50

Azoospermia

Categories: Reproductive diseases
Genes Variations Tissues Related diseases Publications Drugs
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Aliases & Classifications for Azoospermia

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MalaCards integrated aliases for Azoospermia:

Name: Azoospermia 12 36 29 54 6 43 15 17 71
Spermatogenic Failure 12 36 29 6 39
Spermatogenic Failure, Susceptibility to 6

Classifications:

MalaCards categories:
Anatomical: Reproductive diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:14227
ICD9CM 34 606.0
MeSH 43 D053713
NCIt 49 C80076
SNOMED-CT 67 425558002 48188009
ICD10 32 N46.0
UMLS 71 C0004509
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Summaries for Azoospermia

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KEGG : 36 Azoospermia is a disorder in which there is a complete absence of sperm in the semen. It is classified as obstructive azoospermia caused by problems with sperm transport and nonobstructive azoospermia caused by failure of spermatogenesis. Y-linked gene USP9Y has been implicated in moderate oligoasthenoteratozoospermia and azoospermia. SYCP3 mutations lead to complete infertility due to meiotic arrest.

MalaCards based summary : Azoospermia, also known as spermatogenic failure, is related to spermatogenic failure 4 and male infertility with azoospermia or oligozoospermia due to single gene mutation. An important gene associated with Azoospermia is DAZL (Deleted In Azoospermia Like). The drugs Sodium citrate and Metformin have been mentioned in the context of this disorder. Affiliated tissues include testis, testes and bone, and related phenotypes are endocrine/exocrine gland and reproductive system

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

Wikipedia : 74 Azoospermia is the medical condition of a man whose semen contains no sperm. It is associated with... more...

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Related Diseases for Azoospermia

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

(show top 50) (show all 305)
# Related Disease Score Top Affiliating Genes
1 spermatogenic failure 4 34.0 SYCP3 AR
2 male infertility with azoospermia or oligozoospermia due to single gene mutation 33.5 TEX15 SYCP3 SOHLH1 CFTR
3 y chromosome infertility 33.5 USP9Y RBMY1A1 DDX3Y DAZ3 DAZ2 DAZ1
4 spermatogenic failure, y-linked, 2 33.3 USP9Y SOHLH1 RBMY1A1 DDX3Y DAZ4 DAZ3
5 spermatogenic failure, x-linked, 1 33.1 SYCP3 SOHLH1 DAZL BOLL
6 oligospermia 31.4 DAZL CFTR AR
7 partial deletion of y 31.3 USP9Y RBMY1A1 DDX3Y DAZ4 DAZ3 DAZ2
8 testicular cancer 31.0 DAZL AZF1 AR
9 cryptorchidism, unilateral or bilateral 30.9 SYCP3 SOHLH1 DAZL CFTR AZF1 AR
10 oligoasthenoteratozoospermia 30.9 DAZL AR
11 infertility 30.9 USP9Y TEX15 SYCP3 FSHB DDX3Y DAZL
12 hypogonadism 30.7 SOHLH1 FSHB AR
13 male infertility 30.4 USP9Y SYCP3 RBMY1A1 FSHB FKBP6 DDX3Y
14 premature ovarian failure 1 30.1 SYCP3 SOHLH1 FSHB DAZL AR
15 spermatogenic failure 10 12.7
16 spermatogenic failure 9 12.7
17 spermatogenic failure 6 12.7
18 spermatogenic failure 11 12.7
19 spermatogenic failure 5 12.7
20 morbid obesity and spermatogenic failure 12.7
21 spermatogenic failure 18 12.7
22 spermatogenic failure 7 12.7
23 spermatogenic failure 16 12.7
24 spermatogenic failure 19 12.7
25 spermatogenic failure 20 12.6
26 spermatogenic failure 21 12.6
27 spermatogenic failure 24 12.6
28 spermatogenic failure 33 12.6
29 spermatogenic failure 34 12.6
30 spermatogenic failure 17 12.6
31 spermatogenic failure 26 12.6
32 spermatogenic failure 27 12.6
33 spermatogenic failure 31 12.6
34 spermatogenic failure 36 12.6
35 spermatogenic failure 37 12.6
36 spermatogenic failure 38 12.6
37 spermatogenic failure 39 12.6
38 spermatogenic failure 40 12.6
39 spermatogenic failure 41 12.6
40 spermatogenic failure 42 12.6
41 spermatogenic failure 35 12.6
42 spermatogenic failure 43 12.6
43 male infertility due to obstructive azoospermia 12.4
44 young syndrome 12.2
45 rare genetic disorder with obstructive azoospermia 12.2
46 male infertility due to obstructive azoospermia of genetic origin 12.2
47 rare disorder with obstructive azoospermia 12.2
48 spinocerebellar ataxia 32 11.7
49 vas deferens, congenital bilateral aplasia of 11.7
50 spermatogenic failure 15 11.6

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
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Symptoms & Phenotypes for Azoospermia

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MGI Mouse Phenotypes related to Azoospermia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.61 AR BOLL CFTR DAZ2 FKBP6 FSHB
2 reproductive system MP:0005389 9.32 AR BOLL CFTR DAZ2 DDX3Y FKBP6
Sources

Drugs & Therapeutics for Azoospermia

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

(show top 50) (show all 123)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium citrate Approved, Investigational Phase 4 68-04-2
2
Metformin Approved Phase 4 657-24-9 14219 4091
3
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
4
Polyestradiol phosphate Approved Phase 4 28014-46-2
5
Letrozole Approved, Investigational Phase 4 112809-51-5 3902
6
Lactitol Approved, Investigational Phase 4 585-88-6, 585-86-4 493591
7
Testosterone Approved, Experimental, Investigational Phase 4 58-22-0, 481-30-1 10204 6013
8
Testosterone enanthate Approved Phase 4 315-37-7 9416
9
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
10
Methyltestosterone Approved Phase 4 58-18-4 6010
11
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
12
Ginseng Approved, Investigational, Nutraceutical Phase 4 50647-08-0
13
Enclomiphene Investigational Phase 4 15690-57-0
14 Citrate Phase 4
15 Estrogen Receptor Modulators Phase 4
16 Clomiphene Phase 4
17 Zuclomiphene Phase 4
18 Hypoglycemic Agents Phase 4
19 Chelating Agents Phase 4
20 Anticoagulants Phase 4
21 Calcium, Dietary Phase 4
22 Estradiol 17 beta-cypionate Phase 4
23 Estradiol 3-benzoate Phase 4
24 Follicle Stimulating Hormone Phase 4
25 Chorionic Gonadotropin Phase 4
26 Estrogens Phase 4
27 Estrogen Antagonists Phase 4
28 Estrogen Receptor Antagonists Phase 4
29 Aromatase Inhibitors Phase 4
30 Hormone Antagonists Phase 4
31 Hormones Phase 4
32 Antineoplastic Agents, Hormonal Phase 4
33 Testosterone 17 beta-cypionate Phase 4
34 Androgens Phase 4
35 Anabolic Agents Phase 4
36
Calcium Nutraceutical Phase 4 7440-70-2 271
37
Gabapentin Approved, Investigational Phase 3 60142-96-3 3446
38
Castor oil Approved, Investigational, Nutraceutical, Vet_approved Phase 2, Phase 3 8001-79-4
39 Gastrointestinal Agents Phase 2, Phase 3
40 Cathartics Phase 2, Phase 3
41 Castor Phase 2, Phase 3
42 Laxatives Phase 2, Phase 3
43 Excitatory Amino Acid Antagonists Phase 3
44 Narcotics Phase 3
45 Anti-Anxiety Agents Phase 3
46 Psychotropic Drugs Phase 3
47 Analgesics Phase 3
48 Anticonvulsants Phase 3
49 Neurotransmitter Agents Phase 3
50
Goserelin Approved Phase 2 65807-02-5 5311128 47725

Interventional clinical trials:

(show top 50) (show all 80)
# Name Status NCT ID Phase Drugs
1 Effectiveness and Safety of uFSH for Severe Oligospermia or Azoospermia:A Multi-center,Open,Randomized,Interventional,and Phase4 Trial in China Unknown status NCT02307994 Phase 4 75IU uFSH
2 Metformin for the Treatment of Unexplained Oligozspermia and Azoospermia Unknown status NCT01529177 Phase 4 Metformin / clomid / hCG;Clomiphene citrate / hCG
3 Intra-uterine Injection of Human Chorionic Gonadotrophin Before Embryo Transfer in ICSI Completed NCT01030393 Phase 4 human chorionic gonadotrophin
4 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)
5 Natesto Effects on Testosterone, Luteinizing Hormone, Follicle Stimulating Hormone and Semen Parameters Completed NCT03203681 Phase 4 NATESTO® (4.5% nasal testosterone) Nasal Gel
6 Follicular Synchronization in Polycystic Ovarian Syndrome Patients Undergoing Intracytoplasmatic Sperm Injection With Letrozole /Antagonist Protocol: A Randomized Controlled Trial Recruiting NCT04069117 Phase 4 letrozole 2.5mg (Femara; Novartis Pharma Services, Basel, Switzerland)
7 A Comparison of Side Effects in Hypogonadal Men Treated With Natesto Versus Testosterone Injections: A Phase IV, Prospective, Randomized, Non-Blinded, Multi-Institutional Study Not yet recruiting NCT04439799 Phase 4 Testosterone Cypionate 200 MG/ML;Intranasal Testosterone
8 Follicle-stimulating Hormone Treatment for Infertile Male Patients With Non-obstructive Azoospermia: a Multicenter Randomized Clinical Trial Unknown status NCT02275169 Phase 3 Urofollitropin
9 Effect of Letrozole on Seminal Parameters in Men With Non Obstructive Azoospermia and Severe Oligozoospermia. Completed NCT02900105 Phase 3 Letrozole
10 The Comparison of Diagnostic Testicular Sperm Extraction(TESE) and Testicular Sperm Aspiration(TESA) in Non-obstructive Azoospermic Patients a Randomized Clinical Trial Study Completed NCT01210326 Phase 2, Phase 3
11 Androgen Treatment in Leydig Cell Proliferation Completed NCT01206270 Phase 2, Phase 3 Testosterone undecanoate;Castor Oil
12 Interest of Clomiphene Citrate (CC) Associated With a Second Testicular Sperm Extraction (TESE) in Patients With Non-obstructive Azoospermia (NOA) After Failure of a First TESE, on the Quantity of Sperm Cells Available for Intracytoplasmic Sperm Injection (ICSI). Randomized Double Blind Trial Versus Placebo. Not yet recruiting NCT03615547 Phase 3 Clomifene Citrate
13 The Use of Gabapentin for Post-Operative Pain Control and Narcotic Reduction in Scrotal Surgery Not yet recruiting NCT04230980 Phase 3 Gabapentin;Placebo
14 Testicular Injection of Autologous Human Bone Marrow Derived Stem Cells for Treatment of Patients With Azoospermia Unknown status NCT02041910 Phase 1, Phase 2
15 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
16 Using of Bone Marrow Derived Mesenchymal Stem Cells For Treatment of Azoospermic Patients Unknown status NCT02025270 Phase 1, Phase 2
17 A Pilot Trial of 13-cis Retinoic Acid (Isotretinoin) for the Treatment of Men With Azoospermia Completed NCT03323801 Phase 2 13-cis retinoic acid
18 Male Hormonal Contraception Development: Suppression of Spermatogenesis With the Addition of a Potent GnRH Antagonist (Acyline) to Testosterone and DMPA (ACY-5) -Sub-Study (HOP 5) Completed NCT00156650 Phase 1, Phase 2 Acyline;Testosterone Gel;Depo-Medroxyprogesterone
19 Male Hormonal Contraceptive Development: Suppression of Spermatogenesis With the Addition of a Potent Antagonist (Acyline) to Testosterone and DMPA (ACY-5) Completed NCT00161447 Phase 1, Phase 2 Acyline;Testosterone Gel;Depo-Medroxyprogesterone
20 Bovine Colostrum for Patients With Non Alcoholic Fatty Liver Disease Completed NCT01016418 Phase 1, Phase 2
21 A 5-year Prospective, Placebo-controlled, Crossover Evaluation of the Efficacy and Tolerability of Low-dose Lisinopril in Normotensives With Idiopathic Oligospermic Infertility Completed NCT01409837 Phase 2 Lisinopril
22 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
23 A Phase II, Multicenter, Open Label Study of Treatment Intensification With ACVD and Brentuximab-Vedotin in Advanced-stage Hodgkin Lymphoma Patients With a Positive Interim PET Scan After 2 ABVD Cycles Recruiting NCT03527628 Phase 2 Adriamycin;Cyclophosphamide;Vinblastine;Dacarbazine;Brentuximab Vedotin;ABVD
24 Efficiency Evaluation of Adipose-Derived Adult Stromal Vascular Cells in Patients With Spermatogenesis Disorders. Enrolling by invitation NCT03762967 Phase 2 Standard therapy.
25 Hormonal Male Contraception in Men With Normal and Subnormal Semen Parameters Terminated NCT00167141 Phase 2 injection of hormonal male contraceptive
26 Intra Testicular Artery Injection of Bone Marrow Stem Cell in Management of Azoospermia Unknown status NCT02008799
27 Spermatogonial Stem Cells in Azoospermic Patients: a Comparison Between Obstructive and Non-obstructive Azoospermia Unknown status NCT01178463
28 Prospective Controlled Trial to Evaluate Erectile Function, Fertility and Sperm Count in Male Cyclists Compared to Age Matched Controls Unknown status NCT00282477
29 Predictors for Successful Sperm Reterival by Testicular Sperm Extraxtion(TESE) in Patients With Non Obstructive Azospermia Unknown status NCT03146260
30 Outcome of ICSI Using Cryopreserved Testicular Sperm From Infertile Men With Varicocele-associated Azoospermia Unknown status NCT02306499
31 Modern Analyses of the Semen in Evaluating Male Fertility and Treatment Options of Male Infertility Unknown status NCT02932865
32 The Effect of Low Electrical Current on Testicular Spermatocyte Count Unknown status NCT02617173
33 Effect of Dietary Supplementation With Omega-3 Fatty Acids on Human Sperm Characteristics, a Preliminary Study Unknown status NCT00479960 Early Phase 1
34 Genetic Studies Spermatogenic Failure Completed NCT00548977
35 Are Estradiol and Testosterone Levels in Seminal Plasma Predictive for Efficient Spermatogenesis in Men With Non- Obstructive Azoospermia Completed NCT02255396
36 Prospective Evaluation of Microdissection Testicular Sperm Extraction in Non-Obstructive Azoospermic Men and Their IVF-ICSI Related Outcomes at ART Treatment. Completed NCT00484081
37 Insulin Resistance : a New Diagnosis of the Pathogenesis of Idiopathic Oligozoospermia and Non Obstructive Azoospermia Completed NCT01509482
38 HPV as a Possible Cause of Azoospermia Completed NCT02329275
39 Comparison of FDG PET-CT Estimated Testis Functional Value Between Patients Having Positive Testicular Sperm Cells Extraction and Patients With a Negative Extraction, in Men With Azoospermia Completed NCT02043444
40 Seminal TEX101 as a Predictor of Recovery of Spermatogenesis in Azoospermic Men With Palpable Varicocele Completed NCT04397887
41 Fertility Preservation in Cases of Spermatogenesis Failure : Prospective Study for Klinefelter Syndrome With Non-mosaic Karyotype (47, XXY, Homogeneous) Completed NCT01918280
42 Study of Synapsis and Recombination in Male Meiosis and the Implications in Infertility Completed NCT02339272
43 The Acceptance, Safety, and Efficacy of Needle-free Jet Anaesthetic Technique (MadaJet) Versus Needle Injection for Sperm Retrieval in Patients With Azoospermia Completed NCT03181243
44 Management of Azoospermic Patients With Kleinfelter Syndrome Patients With Mesenchymal Stem Cell Injection Completed NCT02414295 Mesenchymal stem cell injection
45 Isolation, Culture and Characterization Stem Cells From Testis Biopsy Completed NCT01375062
46 Increased Testicular Cd2+ & Infertility With Varicocele ( a Varicose Vein in the Scrotum) Completed NCT00044369
47 Oxidative Stress in Testicular Tissue Before and After Cryopreservation Completed NCT03621995
48 Chromosomal and Morphological Structure of Mature and Immature Male Germ Cells and Recognition of IL-18 in Testicular Tissue of Azoospermic Men Completed NCT00544089
49 Study of the Spermatic Characteristics of Patients With Fabry Disease Completed NCT04073888
50 Impact of Inseminated Volume and Live Birth Rates After Intrauterine Insemination (IUI) With Donor Sperm (dIUI): A Prospective Randomized COntrolled Trial Completed NCT03006523

Search NIH Clinical Center for Azoospermia

Cochrane evidence based reviews: azoospermia

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Genetic Tests for Azoospermia

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Genetic tests related to Azoospermia:

# Genetic test Affiliating Genes
1 Azoospermia 29
2 Spermatogenic Failure 29
Sources

Anatomical Context for Azoospermia

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MalaCards organs/tissues related to Azoospermia:

40
Testis, Testes, Bone, Pituitary, Prostate, Bone Marrow, Liver
Sources

Publications for Azoospermia

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Articles related to Azoospermia:

(show top 50) (show all 6201)
# Title Authors PMID Year
1
Lack of the T54A polymorphism of the DAZL gene in infertile Italian patients. 61 6
15220464 2004
2
Association of a single-nucleotide polymorphism of the deleted-in-azoospermia-like gene with susceptibility to spermatogenic failure. 61 6
12414900 2002
3
A novel requirement in mammalian spermatid differentiation for the DAZ-family protein Boule. 61 54
20335278 2010
4
Follicle-stimulating hormone receptor gene haplotypes and male infertility in estonian population and meta-analysis. 54 61
20170288 2010
5
Is intracytoplasmic sperm injection essential for the treatment of hypogonadotrophic hypogonadism? A comparison between idiopathic and secondary hypogonadotrophic hypogonadism. 54 61
19824804 2009
6
Expression of the proto-oncogene c-fos and the immunolocalization of c-fos, phosphorylated c-fos and estrogen receptor beta in the human testis. 61 54
19795350 2009
7
Mutations in the protamine locus: association with spermatogenic failure? 54 61
19602509 2009
8
[Androgen receptor CAG gene polymorphism in men with azoospermia and oligozoospermia in Ukraine]. 61 54
20458976 2009
9
Cystic fibrosis transmembrane conductance regulator mutations in azoospermic and oligospermic men and their partners. 61 54
20021716 2009
10
Screening for Y-chromosome microdeletions in a population of infertile males in the Gaza Strip. 61 54
20485582 2009
11
[Importance should be attached to the causes of azoospermia]. 54 61
19852264 2009
12
Infertility and bilateral adrenal tumors. 61 54
19100538 2009
13
Molecular characterization and SNPs analysis of the porcine Deleted in AZoospermia Like (pDAZL) gene. 61 54
18620821 2009
14
Novel cause of hereditary obstructive azoospermia: a T2 allele in the CFTR gene. 61 54
19298730 2009
15
The b2/b3 subdeletion shows higher risk of spermatogenic failure and higher frequency of complete AZFc deletion than the gr/gr subdeletion in a Chinese population. 54 61
19088127 2009
16
DAZAP1 interacts via its RNA-recognition motifs with the C-termini of other RNA-binding proteins. 54 61
19285026 2009
17
Spermatogenesis in a man with complete deletion of USP9Y. 61 54
19246359 2009
18
Single nucleotide polymorphism analysis of the follicle-stimulating hormone (FSH) receptor in Japanese with male infertility: identification of codon combination with heterozygous variations of the two discrete FSH receptor gene. 54 61
19550076 2009
19
Unique signatures of natural background radiation on human Y chromosomes from Kerala, India. 54 61
19242544 2009
20
Quantitative fluorescent-PCR detection of sex chromosome aneuploidies and AZF deletions/duplications. 61 54
19072570 2008
21
[AZF microdeletions are not related with recurrent spontaneous abortion]. 61 54
19157230 2008
22
The prevalence of azoospermia factor microdeletion on the Y chromosome of Chinese infertile men detected by multi-analyte suspension array technology. 61 54
18958351 2008
23
Association of USP26 haplotypes in men in Taiwan, China with severe spermatogenic defect. 61 54
18958354 2008
24
[Genetic causes of male infertility]. 61 54
19004117 2008
25
Sons conceived by assisted reproduction techniques inherit deletions in the azoospermia factor (AZF) region of the Y chromosome and the DAZ gene copy number. 61 54
18440997 2008
26
Assisted reproductive technology may increase clinical mutation detection in male offspring. 54 61
18258231 2008
27
Molecular analysis of mutations and polymorphisms in the CFTR gene in male infertility. 61 54
18616886 2008
28
[Detection of Y chromosome microdeletions in semen of patients with azoospermia: study of 241 cases]. 61 54
19024532 2008
29
Genomic analysis of Drosophila neuronal remodeling: a role for the RNA-binding protein Boule as a negative regulator of axon pruning. 54 61
18550751 2008
30
Do we need to search for gr/gr deletions in infertile men in a clinical setting? 54 61
18326516 2008
31
Expression of androgen receptor co-regulators in the testes of men with azoospermia. 61 54
17919607 2008
32
[Molecular cytogenetic studies of 25 males with azoospermia]. 61 54
18393244 2008
33
Identification of new breakpoints in AZFb and AZFc. 61 54
18326547 2008
34
Serum inhibin-B and follicle stimulating hormone as predictors of the presence of sperm in testicular fine needle aspirate in men with azoospermia. 54 61
18477551 2008
35
Seminal plasma lipocalin-type prostaglandin D synthase: a potential new marker for the diagnosis of obstructive azoospermia. 54 61
18206953 2008
36
Evolution of the DAZ gene and the AZFc region on primate Y chromosomes. 61 54
18366765 2008
37
Screening for Y-chromosome microdeletions in infertile Indian males: utility of simplified multiplex PCR. 54 61
18403789 2008
38
CFTR mutations in the Algerian population. 54 61
17572159 2008
39
[Y chromosome and male infertility: what is a normal Y chromosome?]. 61 54
18547511 2008
40
[Clinical significance and relevant laboratory techniques of detecting azoospermia factors of the Y chromosome]. 54 61
18284064 2007
41
[Clinical, molecular and cytogenetic studies on 4 patients with 46, XX (SRY positive) male syndrome]. 61 54
18284058 2007
42
Cytogenetic and molecular characterization of the derivative Y chromosome: a case study of an azoospermic patient. 54 61
17935509 2007
43
Routine screening for classical azoospermia factor deletions of the Y chromosome in azoospermic patients with Klinefelter syndrome. 61 54
17968468 2007
44
[Screening for the microdeletions of azoospermia factor on the Y chromosome in male infertile patients from Guangzhou]. 54 61
17922428 2007
45
Tag STS in the AZF region associated with azoospermia in a Tunisian population. 54 61
17409464 2007
46
Y chromosome haplogroups and susceptibility to testicular cancer. 54 61
17682003 2007
47
[The analysis of CFTR mutations in men with azoospermia, oligozoospermia and asthenozoospermia]. 61 54
18050608 2007
48
Transition protein 1 mRNA expression is not related to pregnancy rate in azoospermic men undergoing TESE-ICSI. 61 54
17683460 2007
49
Immunohistochemical analysis of connexin43 expression in infertile human testes. 54 61
17653298 2007
50
Translation of the synaptonemal complex component Sycp3 is enhanced in vivo by the germ cell specific regulator Dazl. 61 54
17526644 2007
Sources

Variations for Azoospermia

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ClinVar genetic disease variations for Azoospermia:

6 (show all 11) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 46;XY;t(7;8)(p12.3;p11.2)dnTranslocation Pathogenic 267800
2 DAZL NM_001351.4(DAZL):c.160A>G (p.Thr54Ala)SNV risk factor 8145 rs121918346 3:16639676-16639676 3:16598169-16598169
3 AURKC NM_001015878.2(AURKC):c.-99dupduplication Conflicting interpretations of pathogenicity 330226 rs74179426 19:57742514-57742515 19:57231146-57231147
4 46;XY;t(12;14)(q15;q13)matTranslocation Uncertain significance 267936
5 SPATA16 NM_031955.6(SPATA16):c.848+15deldeletion Uncertain significance 344213 rs143941722 3:172737261-172737261 3:173019471-173019471
6 SPATA16 NM_031955.6(SPATA16):c.-141C>TSNV Uncertain significance 344231 rs886058188 3:172859015-172859015 3:173141225-173141225
7 SPATA16 NM_031955.5(SPATA16):c.-159C>ASNV Uncertain significance 344233 rs528313469 3:172859033-172859033 3:173141243-173141243
8 AURKC NM_001015878.2(AURKC):c.-80dupduplication Likely benign 330227 rs140452971 19:57742531-57742532 19:57231163-57231164
9 SYCP3 NM_001177949.2(SYCP3):c.*239_*240CT[1]short repeat Likely benign 306758 rs370467855 12:102122461-102122464 12:101728683-101728686
10 SOHLH1 NM_001101677.2(SOHLH1):c.346-1G>ASNV Benign 560884 rs140132974 9:138589474-138589474 9:135697628-135697628
11 SYCP3 NM_001177949.2(SYCP3):c.454-13_454-9deldeletion Benign 306763 rs145003954 12:102125453-102125457 12:101731675-101731679

Copy number variations for Azoospermia from CNVD:

7 (show all 15)
# CNVD ID Chromosome 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
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Expression for Azoospermia

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Search GEO for disease gene expression data for Azoospermia.
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Pathways for Azoospermia

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GO Terms for Azoospermia

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.03 USP9Y TEX15 SOHLH1 FSHB FKBP6 DDX3Y
2 nucleus GO:0005634 9.83 USP9Y TEX15 SYCP3 SOHLH1 RBMY1A1 FKBP6
3 synaptonemal complex GO:0000795 9.26 SYCP3 FKBP6
4 protein-containing complex GO:0032991 9.23 DAZL DAZAP1 DAZ4 DAZ3 DAZ2 DAZ1

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

# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 10 TEX15 SOHLH1 FKBP6 DDX3Y DAZL DAZAP1
2 multicellular organism development GO:0007275 9.92 SOHLH1 DAZL DAZAP1 DAZ4 DAZ3 DAZ2
3 meiotic cell cycle GO:0051321 9.67 TEX15 SYCP3 FKBP6 BOLL
4 positive regulation of translational initiation GO:0045948 9.63 DAZL DAZ4 DAZ3 DAZ2 DAZ1 BOLL
5 spermatogenesis GO:0007283 9.44 USP9Y TEX15 SYCP3 SOHLH1 FKBP6 DAZL
6 3'-UTR-mediated mRNA stabilization GO:0070935 9.43 DAZL DAZ4 DAZ3 DAZ2 DAZ1 BOLL

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

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.97 RBMY1A1 DDX3Y DAZL DAZAP1 DAZ4 DAZ3
2 nucleic acid binding GO:0003676 9.91 RBMY1A1 DDX3Y DAZL DAZAP1 DAZ4 DAZ3
3 mRNA binding GO:0003729 9.76 RBMY1A1 DAZL DAZAP1 DAZ4 DAZ3 DAZ2
4 mRNA 3'-UTR binding GO:0003730 9.5 DAZL DAZAP1 DAZ4 DAZ3 DAZ2 DAZ1
5 translation activator activity GO:0008494 9.1 DAZL DAZ4 DAZ3 DAZ2 DAZ1 BOLL
Sources

Sources for Azoospermia

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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