MCID: RPR002
MIFTS: 34

Reproductive System Disease

Categories: Reproductive diseases

Aliases & Classifications for Reproductive System Disease

MalaCards integrated aliases for Reproductive System Disease:

Name: Reproductive System Disease 12 15
Abnormality of the Genital System 29 6
Reproductive System Disorder 73
Genital System Disease 12

Classifications:



External Ids:

Disease Ontology 12 DOID:15
NCIt 50 C27613

Summaries for Reproductive System Disease

Disease Ontology : 12 A disease of anatomical entity that is located in reproductive system organs.

MalaCards based summary : Reproductive System Disease, also known as abnormality of the genital system, is related to male reproductive system disease and female reproductive system disease. An important gene associated with Reproductive System Disease is AMH (Anti-Mullerian Hormone), and among its related pathways/superpathways are Ovarian steroidogenesis and Nongenotropic Androgen signaling. The drugs Estradiol and Estradiol valerate have been mentioned in the context of this disorder. Affiliated tissues include reproductive system organs, and related phenotypes are endocrine/exocrine gland and reproductive system

Wikipedia : 76 A reproductive system disease is any disease of the reproductive... more...

Related Diseases for Reproductive System Disease

Diseases related to Reproductive System Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 male reproductive system disease 33.7 DAZ1 DAZ4 DAZL DPY19L2 FSHR KLK3
2 female reproductive system disease 33.3 AMH AREG BMP15 CYP19A1 FSHR GDF9
3 partial deletion of y 11.1 DAZ1 DAZ4
4 pituitary infarct 11.1 GNRH1 PRL
5 freemartinism 11.1 AMH BMP15 GNRH1
6 spermatogenic failure, x-linked, 1 11.1 DAZ1 DAZ4 DAZL
7 endometriosis of uterus 11.1 GNRH1 PRL
8 hypogonadotropic hypogonadism 23 without anosmia 11.1 FSHR GNRH1
9 precocious puberty, male-limited 11.0 CYP19A1 FSHR
10 oligospermia 11.0 DAZ1 DAZ4 PRL
11 hypogonadotropism 11.0 GNRH1 PRL
12 oocyte maturation defect 1 11.0 BMP15 CYP19A1
13 premenstrual tension 11.0 GNRH1 PRL SHBG
14 gonadal dysgenesis 11.0 AMH BMP15 FSHR
15 mccune-albright syndrome 11.0 AMH CYP19A1 PRL
16 hypoactive sexual desire disorder 11.0 CYP19A1 SHBG
17 hyperprolactinemia 11.0 GNRH1 PRL SHBG
18 hypothalamic disease 11.0 GNRH1 PRL
19 estrogen excess 11.0 CYP19A1 FSHR SHBG
20 gonadal disease 11.0 AMH FSHR GNRH1 SHBG
21 varicocele 10.9 AMH GNRH1 PRL SHBG
22 ovarian hyperstimulation syndrome 10.9 AMH CYP19A1 FSHR GNRH1
23 sexual disorder 10.9 KLK3 PRL SHBG
24 chiasmal syndrome 10.9 GNRH1 PRL
25 androgen insensitivity, partial 10.9 CYP19A1 SHBG
26 pituitary apoplexy 10.9 GNRH1 PRL
27 impotence 10.9 KLK3 PRL SHBG
28 acquired metabolic disease 10.9 PRL SHBG TRPV1
29 breast disease 10.9 KLK3 PRL SHBG
30 hyperandrogenism 10.9 CYP19A1 GNRH1 PRL SHBG
31 pelvic varices 10.9 DPY19L2 GNRH1 PRM1 SHBG
32 prostatic adenoma 10.9 KLK3 SHBG
33 46,xx sex reversal 1 10.9 BMP15 FSHR
34 androgenic alopecia 10.8 CYP19A1 KLK3 PRL SHBG
35 gynecomastia 10.8 CYP19A1 KLK3 PRL SHBG
36 cryptorchidism, unilateral or bilateral 10.8 AMH CYP19A1 DAZ1 GNRH1 SHBG
37 sex differentiation disease 10.8 AMH CYP19A1 GNRH1 PRL SHBG
38 male reproductive organ cancer 10.8 AREG GNRH1 KLK3 SHBG
39 amenorrhea 10.8 BMP15 FSHR GNRH1 PRL SHBG
40 nodular prostate 10.8 GNRH1 KLK3
41 empty sella syndrome 10.8 GNRH1 PRL
42 aromatase excess syndrome 10.8
43 uterine anomalies 10.8
44 preterm premature rupture of the membranes 10.8
45 ectopic pregnancy 10.8
46 endometriosis 10.8
47 male infertility 10.7 DAZ1 DAZ4 DAZL FSHR PRM1 PRM2
48 polycystic ovary syndrome 10.7 CYP19A1 FSHR GDF9 GNRH1 PRL SHBG
49 anovulation 10.7 BMP15 CYP19A1 FSHR GNRH1 PRL SHBG
50 azoospermia 10.6 DAZ1 DAZ4 DAZL

Graphical network of the top 20 diseases related to Reproductive System Disease:



Diseases related to Reproductive System Disease

Symptoms & Phenotypes for Reproductive System Disease

MGI Mouse Phenotypes related to Reproductive System Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.65 FSHR GDF9 GNRH1 PRL ZP3 AMH
2 reproductive system MP:0005389 9.32 FSHR GDF9 GNRH1 PRL ZP3 AMH

Drugs & Therapeutics for Reproductive System Disease

Drugs for Reproductive System Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
2 Estradiol valerate Approved, Investigational, Vet_approved Phase 3 979-32-8
3
Polyestradiol phosphate Approved Phase 3 28014-46-2
4
Testosterone Approved, Investigational Phase 3 58-22-0 6013
5 Estradiol 17 beta-cypionate Phase 3
6 Estradiol 3-benzoate Phase 3
7 Estrogens Phase 3
8 Hormone Antagonists Phase 3,Not Applicable
9 Hormones Phase 3,Not Applicable
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Not Applicable
11
Ethanol Approved Not Applicable 64-17-5 702
12
Progesterone Approved, Vet_approved Not Applicable 57-83-0 5994
13 insulin Not Applicable
14 Insulin, Globin Zinc Not Applicable
15 Progestins Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Local Oestrogen Versus Placebo as Preoperative Treatment in Patients With Severe Hypospadias: Effects on Post-operative Complications Completed NCT01370798 Phase 3 promestriene;Placebo
2 Safety and Acceptability of SPL7013 Gel (VivaGel™) in Sexually Active Women Completed NCT00442910 Phase 1 3% SPL7013 Gel (VivaGel);Placebo Gel;HEC Placebo Gel
3 Effect of Modifications of Nutritional Intake Upon Reproductive Hormones in Normal Women Completed NCT02233283 Not Applicable
4 Inherited Reproductive Disorders Recruiting NCT01500447
5 Pregnancy Environment and Newborn Malformations Recruiting NCT01613638 Not Applicable
6 Stentless Endoscopic Transnasal Transseptal Choanoplasty Recruiting NCT03167463 Not Applicable
7 Vaginal Progesterone for the Prolongation of Pregnancy After Arrested Pre-term Labor Not yet recruiting NCT02430233 Not Applicable micronized progesterone 400 mg (Utrogestan)

Search NIH Clinical Center for Reproductive System Disease

Genetic Tests for Reproductive System Disease

Genetic tests related to Reproductive System Disease:

# Genetic test Affiliating Genes
1 Abnormality of the Genital System 29

Anatomical Context for Reproductive System Disease

The Foundational Model of Anatomy Ontology organs/tissues related to Reproductive System Disease:

19
Reproductive System Organs

Publications for Reproductive System Disease

Variations for Reproductive System Disease

ClinVar genetic disease variations for Reproductive System Disease:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 46;X;t(Y;3)(p11.2;p12.3)dn Translocation Likely pathogenic

Expression for Reproductive System Disease

Search GEO for disease gene expression data for Reproductive System Disease.

Pathways for Reproductive System Disease

Pathways related to Reproductive System Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.02 BMP15 CYP19A1 FSHR
2 10.58 GNRH1 SHBG
3 10.56 AREG CYP19A1 FSHR
4 10.53 CYP19A1 DAZL FSHR GDF9 ZP3
5 10.37 FSHR GNRH1

GO Terms for Reproductive System Disease

Cellular components related to Reproductive System Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.28 AMH AREG BMP15 GDF9 GNRH1 KLK3

Biological processes related to Reproductive System Disease according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.97 AMH DAZ1 DAZ4 DAZL DPY19L2 PRM1
2 response to organic cyclic compound GO:0014070 9.75 AMH AREG GNRH1
3 BMP signaling pathway GO:0030509 9.72 AMH BMP15 GDF9
4 spermatid development GO:0007286 9.69 DPY19L2 FSHR PRM2
5 regulation of MAPK cascade GO:0043408 9.65 BMP15 FSHR GDF9
6 response to peptide hormone GO:0043434 9.63 AREG GNRH1 TRPV1
7 female gonad development GO:0008585 9.58 CYP19A1 FSHR
8 germ cell development GO:0007281 9.58 DAZ1 DAZ4 DAZL
9 chromosome condensation GO:0030261 9.57 PRM1 PRM2
10 uterus development GO:0060065 9.56 CYP19A1 FSHR
11 regulation of systemic arterial blood pressure GO:0003073 9.54 FSHR KLK3
12 gonad development GO:0008406 9.52 AMH FSHR
13 female gamete generation GO:0007292 9.5 BMP15 FSHR GDF9
14 regulation of signaling receptor activity GO:0010469 9.5 AMH AREG BMP15 GDF9 GNRH1 PRL
15 DNA packaging GO:0006323 9.43 PRM1 PRM2
16 positive regulation of translational initiation GO:0045948 9.43 DAZ1 DAZ4 DAZL
17 3-UTR-mediated mRNA stabilization GO:0070935 9.33 DAZ1 DAZ4 DAZL
18 spermatogenesis GO:0007283 9.23 DAZ1 DAZ4 DAZL DPY19L2 FSHR PRM1
19 multicellular organism development GO:0007275 10.04 DAZ1 DAZ4 DAZL DPY19L2 GNRH1 PRM1

Molecular functions related to Reproductive System Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.5 AMH GNRH1 PRL
2 growth factor activity GO:0008083 9.46 AMH AREG BMP15 GDF9
3 mRNA 3-UTR binding GO:0003730 9.43 DAZ1 DAZ4 DAZL
4 transforming growth factor beta receptor binding GO:0005160 9.13 AMH BMP15 GDF9
5 translation activator activity GO:0008494 8.8 DAZ1 DAZ4 DAZL

Sources for Reproductive System Disease

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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