MCID: END044
MIFTS: 69

Endometriosis malady

Reproductive diseases, Rare diseases categories

Summaries for Endometriosis

About this section
Sources:
35MedlinePlus, 66Wikipedia, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
MedlinePlus:35 Endometriosis is a problem affecting a woman's uterus - the place where a baby grows when she's pregnant. endometriosis is when the kind of tissue that normally lines the uterus grows somewhere else. it can grow on the ovaries, behind the uterus or on the bowels or bladder. rarely, it grows in other parts of the body. this "misplaced" tissue can cause pain, infertility, and very heavy periods. the pain is usually in the abdomen, lower back or pelvic areas. some women have no symptoms at all. having trouble getting pregnant may be the first sign. the cause of endometriosis is not known. pain medicines and hormones often help. severe cases may need surgery. there are also treatments to improve fertility in women with endometriosis.

MalaCards: Endometriosis, also known as endometriosis, site unspecified, is related to infertility and endometrial stromal sarcoma. An important gene associated with Endometriosis is CDKN2B-AS1 (CDKN2B antisense RNA 1), and among its related pathways are superpathway of steroid hormone biosynthesis and Aromatase Inhibitor Pathway (Multiple Tissues), Pharmacodynamics. The drugs hydroxyprogesterone and hydroxyprogesterone caproate (usp) and the compounds estradiol benzoate and leuprolide acetate have been mentioned in the context of this disorder. Affiliated tissues include endothelial, uterus and ovary, and related mouse phenotypes are tumorigenesis and liver/biliary system.

Wikipedia:66 Endometriosis is a gynecological condition in which cells from the lining of the uterus (endometrium)... more...

Aliases & Classifications for Endometriosis

About this section
Sources:
9Disease Ontology, 11DISEASES, 46Novoseek, 35MedlinePlus, 63UMLS, 59SNOMED-CT, 28ICD9CM, 41NCIt, 36MeSH, 26ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Reproductive diseases


Aliases & Descriptions:

endometriosis 9 11 46 35
endometriosis, site unspecified 63


External Ids:

Disease Ontology9 DOID:289
ICD9CM28 617.9, 617
NCIt41 C3014
MeSH36 D004715
ICD1026 N80, N80.9

Related Diseases for Endometriosis

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

Diseases in the Endometriosis family:

Endometriosis 1 Rare Endometriosis

Diseases related to Endometriosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 211)
idRelated DiseaseScoreTop Affiliating Genes
1infertility31.3FST, CYP1A1, CYP19A1, GNRH1, ESR2, NR5A1
2endometrial stromal sarcoma30.9ESR2, PGR, CYP19A1
3adenocarcinoma30.9VEGFA, PGR, CYP1B1, STS, HNF1B, NR5A1
4leiomyoma30.7ESR2, STS, CYP19A1, GNRH1, PGR
5ovarian cancer30.7VEGFA, GNRH1, FST, MUC16, PGR, CYP1A1
6leiomyomatosis30.6GNRH1, PGR
7progesterone resistance30.6PGR
8myoma30.5CYP19A1, PGR, GNRH1
9adenofibroma30.5MUC16
10endometrial carcinoma30.5ESR2, MUC16, PGR
11uterine fibroid30.3PGR, GNRH1
12breast cancer30.3STS, ESR2, PGR, CYP1A1, CYP19A1
13ovarian cyst30.2MUC16, ESR2, GNRH1, CYP19A1
14anovulation30.2CYP19A1, GNRH1
15adenoma30.1NR5A1, NR2F2, CYP1B1, GNRH1, ESR2, FST
16ovarian serous cystadenocarcinoma30.0MUC16
17cystadenocarcinoma30.0MUC16
18uterine disease29.9CYP19A1, HNF1B
19ovarian disease29.9MUC16, GNRH1, CYP19A1
20prolactinoma29.9NR5A1, ESR2, GNRH1
21precocious puberty29.9GNRH1, CYP19A1
22pregnancy loss29.9CYP1B1, CYP1A1, GNRH1
23prostate cancer29.8HNF1B, GNRH1, CYP1A1, CYP19A1, CYP1B1, STS
24choriocarcinoma29.8CYP19A1, NR5A1, GNRH1, ESR2, STS, FST
25colorectal cancer29.7MUC16, VEGFA, ESR2, CYP1A1, CYP1B1
26lung cancer29.7CYP1B1, CYP1A1, VEGFA, ESR2, MUC16
27peritonitis11.0
28ovarian endometriosis11.0
29adenomyosis10.8
30endotheliitis10.7
31sarcoma10.6
32clear cell adenocarcinoma10.5
33pneumothorax10.5
34rare endometriosis10.5
35catamenial pneumothorax10.5
36adenosarcoma10.5
37vaginitis10.4
38endometriosis of uterus10.4
39cervicitis10.3
40intestinal obstruction10.3
41fallopian tube endometriosis10.3
42pelvic inflammatory disease10.3
43cervix endometriosis10.3
44endometriosis of ovary10.3
45salpingitis10.3
46ureteral obstruction10.2
47ectopic pregnancy10.2
48cystadenoma10.2
49endometriosis of intestine10.2
50endometriosis of pelvic peritoneum10.2

Graphical network of the top 20 diseases related to Endometriosis:



Diseases related to endometriosis

Symptoms for Endometriosis

About this section

Drugs & Therapeutics for Endometriosis

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Endometriosis

Drug clinical trials:

Search ClinicalTrials for Endometriosis

Search NIH Clinical Center for Endometriosis

Search CenterWatch for Endometriosis

Inferred drug relations via UMLS63/NDF-RT42:

Genetic Tests for Endometriosis

About this section

Anatomical Context for Endometriosis

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Endometriosis:

34
Endothelial, Uterus, Ovary, Monocytes, Colon, Testes, T cells, Cervix, Appendix, Liver, Breast, Pituitary, Lymph node, Lung, Kidney, Bone, Smooth muscle, Thyroid, Prostate, Small intestine, Cortex, Skeletal muscle, Testis, Eye

Animal Models for Endometriosis or affiliated genes

About this section
Sources:
38MGI
See all sources

Publications for Endometriosis

About this section
Sources:
53PubMed
See all sources

Articles related to Endometriosis:

(show top 50)    (show all 2125)
idTitleAuthorsYear
1
Minimally invasive thoracoscopic mesh repair of diaphragmatic fenestrations for catamenial pneumothorax due to likely thoracic endometriosis: a case report. (24145272)
2013
2
Altered circulating levels of matrix metalloproteinases 2 and 9 and their inhibitors and effect of progesterone supplementation in women with endometriosis undergoing in vitro fertilization. (23557756)
2013
3
Association of the tumor necrosis factor-alpha -1031T/C and its combination with interleukin-6 -634C/G gene polymorphisms with susceptibility to endometriosis]. (22883518)
2012
4
Ileocolic intussusception due to a cecal endometriosis: case report and review of literature. (22676322)
2012
5
Extragenital endometrial stromal sarcoma arising in endometriosis. (22538201)
2012
6
Interleukin-1I^ stimulates the secretion of thymic stromal lymphopoietin (TSLP) from endometrioma stromal cells: possible involvement of TSLP in endometriosis. (22888172)
2012
7
In women with endometriosis anti-MA1llerian hormone levels are decreased only in those with previous endometrioma surgery. (22821432)
2012
8
Adenofibroma of the uterine cervix coexistent with endometriosis. (22795111)
2012
9
Polymorphic variants of folate and choline metabolism genes and the risk of endometriosis-associated infertility. (21429654)
2011
10
Pathogenesis of ovarian clear cell adenofibroma, atypical proliferative (borderline) tumor, and carcinoma: clinicopathologic features of tumors with endometriosis or adenofibromatous components support two related pathways of tumor development. (21479128)
2011
11
Association of the IL-6 gene 634C/G polymorphism with susceptibility to endometriosis]. (21983734)
2011
12
MicroRNA 135 regulates HOXA10 expression in endometriosis. (21956427)
2011
13
17Beta-hydroxysteroid dehydrogenase-2 deficiency and progesterone resistance in endometriosis. (20108182)
2010
14
Immunohistochemical expression of YKL-40 in peritoneal endometriosis. (19701838)
2010
15
Higher expression of vascular endothelial growth factor (VEGF) and its receptor VEGFR-2 (Flk-1) and metalloproteinase-9 (MMP-9) in a rat model of peritoneal endometriosis is similar to cancer diseases. (20085636)
2010
16
Medical treatment for rectovaginal endometriosis: what is the evidence? (19574277)
2009
17
Increased mitogen-activated protein kinase kinase/extracellularly regulated kinase activity in human endometrial stromal fibroblasts of women with endometriosis reduces 3',5'-cyclic adenosine 5'-monophosphate inhibition of cyclin D1. (19589865)
2009
18
Anti-apoptotic and pro-apoptotic gene expression evaluated from eutopic endometrium in the proliferative phase of the menstrual cycle among women with endometriosis and healthy controls. (19467764)
2009
19
Experimental murine endometriosis induces DNA methylation and altered gene expression in eutopic endometrium. (18799756)
2009
20
Risk factors for deep endometriosis: a comparison with pelvic and ovarian endometriosis. (18023442)
2008
21
The effect of oral contraceptives on aromatase expression in the eutopic endometrium of patients with endometriosis. (18335325)
2008
22
Persistent bilateral ureteral obstruction secondary to endometriosis despite treatment with an aromatase inhibitor. (18555228)
2008
23
Role of melatonin in regulating matrix metalloproteinase-9 via tissue inhibitors of metalloproteinase-1 during protection against endometriosis. (18298469)
2008
24
Decreased expression of angiogenin in the eutopic endometrium from women with advanced stage endometriosis. (18955785)
2008
25
Semiquantitative analysis of mRNA aromatase expression in eutopic endometrium as a diagnostic marker of endometriosis and estrogen dependent diseases]. (18711959)
2008
26
Estrogen receptor alpha-351 XbaI*G and -397 PvuII*C-related genotypes and alleles are associated with higher susceptibilities of endometriosis and leiomyoma. (17121748)
2007
27
Xanthogranulomatous salpingitis associated with fallopian tube mucosal endometriosis: a clue to the pathogenesis. (17349571)
2007
28
Evaluation of clinical parameters and estrogen receptor alpha gene polymorphisms for patients with endometriosis. (16388018)
2006
29
Patterns of loss of heterozygosity at 10q23.3 and microsatellite instability in endometriosis, atypical endometriosis, and ovarian carcinoma arising in association with endometriosis. (16810057)
2006
30
Possible involvement of thrombin/protease-activated receptor 1 system in the pathogenesis of endometriosis. (15755869)
2005
31
Peritoneal fluid concentrations of interleukin-17 correlate with the severity of endometriosis and infertility of this disorder. (16045534)
2005
32
Expressions of aromatase P450 and estrogen receptor in eutopic and ectopic endometrium in endometriosis and their correlation with endometriosis]. (15840311)
2005
33
Short-term postoperative GnRH analogue or danazol treatment after conservative surgery for stage III or IV endometriosis before ovarian stimulation: a prospective, randomized study. (15656211)
2004
34
Increased pregnancy-associated plasma protein-A (PAPP-A) concentrations in peritoneal fluid of women with endometriosis. (12765344)
2003
35
Diagnosis and treatment of endometriosis. (12517244)
2003
36
Association of an A allele for interleukin-10 -627 gene promoter polymorphism with higher susceptibility to endometriosis. (14562641)
2003
37
Ovarian endometriosis and clear cell carcinoma, leiomyomatosis peritonealis disseminata, and endometrial adenocarcinoma: an unusual, pathogenetically related association. (11444203)
2001
38
Degranulating eosinophils in human endometriosis. (10793070)
2000
39
Three-year follow-up of [CA-125, CA 19-9, CA 15-3, SIL-2R, IL-6, IL-la, TNF-a, sCD8 and sCD4] levels in a woman with severe endometriosis. (11074131)
2000
40
Increase in the expression of killer cell inhibitory receptors on peritoneal natural killer cells in women with endometriosis. (11119748)
2000
41
Expression of CA125 in thoracic endometriosis in a patient with catamenial pneumothorax. (10516547)
1999
42
HOX gene expression is altered in the endometrium of women with endometriosis. (10325287)
1999
43
Expression of size-polymorphic androgen receptor (AR) gene in ovarian endometriosis according to the number of cytosine, adenine, and guanine (CAG) repeats in AR alleles. (10493597)
1999
44
Induction of endometriosis and adenomyosis by transvaginal pituitary transplantation in mice with and without natural killer cell activity. (9894569)
1998
45
Integrin adhesion molecules in the endometrial glandular epithelium in patients with endometriosis or adenomyosis. (9392916)
1997
46
Value of CA125 (carbon hydrate tumor-associated antigen) and endometrial antibodies for the detections of endometriosis]. (8082430)
1994
47
Rationale for frequency and dose of administration in gestrinone therapy for pelvic endometriosis in the experimental model of rabbit uterus. (1869024)
1991
48
Endometriosis and anovulation: a coexisting problem in the infertile female. (1275031)
1976
49
Carcinomatous change in ovarian endometriosis. (5042438)
1972
50
Malignant transformation of ovarian endometriosis. Nature, treatment and report of two cases. (5451141)
1970

Variations for Endometriosis

About this section

Expression for genes affiliated with Endometriosis

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Endometriosis

Search GEO for disease gene expression data for Endometriosis.

Pathways for genes affiliated with Endometriosis

About this section
Sources:
51PathCards, 39NCBI BioSystems Database, 52PharmGKB, 56Reactome, 31KEGG, 61Thomson Reuters
See all sources

Pathways related to Endometriosis according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
estradiol biosynthesis II39
androgen biosynthesis39
estradiol biosynthesis I39
progesterone biosynthesis39
10.1HSD17B1, CYP19A1
29.9STS, HSD17B1, CYP19A1
3
Show member pathways
9.9ESR2, HSD17B1, CYP19A1
4
Show member pathways
9.8CYP1B1, CYP19A1, CYP1A1
5
Show member pathways
9.8CYP1A1, CYP19A1, CYP1B1
69.7CYP19A1, PGR, ESR2, NR5A1
7
Show member pathways
Estrogen biosynthesis61
Androstenedione and testosterone biosynthesis and metabolism p.161
9.7CYP1A1, CYP19A1, HSD17B1, STS
89.6CYP1A1, CYP19A1, CYP1B1, HSD17B1
9
Show member pathways
Nuclear Receptors39
9.6PGR, ESR2, NR5A1, NR2F2
10
Show member pathways
Glucocorticoid andamp; Mineralcorticoid Metabolism39
9.4CYP1A1, CYP19A1, CYP1B1, HSD17B1, STS
11
Show member pathways
9.4STS, HSD17B1, CYP1B1, CYP19A1, CYP1A1

Compounds for genes affiliated with Endometriosis

About this section
Sources:
46Novoseek, 52PharmGKB, 12DrugBank, 30IUPHAR, 25HMDB, 62Tocris Bioscience, 3BitterDB
See all sources

Compounds related to Endometriosis according to GeneCards/GeneDecks:

(show top 50)    (show all 203)
idCompoundScoreTop Affiliating Genes
1estradiol benzoate4610.1ESR2, CYP19A1, PGR, GNRH1
2leuprolide acetate4610.0ESR2, PGR, GNRH1, CYP19A1
3norelgestromin46 52 1212.0ARSH, PGR, STS
4bisphenol a4610.0ESR2, ARSH, CYP19A1, PGR
5clomiphene citrate4610.0ESR2, GNRH1, PGR, CYP19A1
6dydrogesterone46 30 1212.0ARSH, PGR, STS
7tibolone4610.0ARSH, STS, CYP19A1, PGR, GNRH1
8danazol46 25 1212.0CYP19A1, STS, ARSH, PGR, GNRH1
9nandrolone46 2511.0CYP19A1, PGR, SERPINA6, ESR2
10exemestane46 52 62 1212.9CYP19A1, ESR2, CYP1B1, PGR
11capecitabine46 52 1211.9CYP19A1, VEGFA, PGR, CYP1A1
12cyproteroneacetate469.9CYP19A1, GNRH1, SERPINA6, PGR
13fulvestrant46 52 30 1212.9ESR2, PGR, CYP1A1, CYP19A1
14toremifene46 1210.9GNRH1, CYP19A1, ESR2, CYP1A1, PGR
15estrone sulfate46 2510.9PGR, ARSH, STS, CYP1B1, CYP19A1
16letrozole46 52 62 1212.8STS, PGR, CYP19A1, ESR2, CYP1B1
173beta-hydroxysteroid469.8NR5A1, CYP19A1, PGR, ESR2, STS
18flutamide46 62 1211.8PGR, GNRH1, CYP1B1, CYP19A1, CYP1A1
19promegestone46 3010.8ARSH, STS, PGR
20levonorgestrel46 62 30 1212.8CYP19A1, SERPINA6, PGR, ESR2
21dehydroepiandrosterone sulfate469.7GNRH1, CYP19A1, SERPINA6, STS, NR5A1, ARSH
2217-hydroxyprogesterone46 2510.7GNRH1, CYP19A1, SERPINA6, MUC16
23dhea469.6CYP19A1, SERPINA6, ESR2, NR5A1, ARSH, STS
24mifepristone46 30 62 1212.6SERPINA6, CYP19A1, VEGFA, GNRH1, PGR, ESR2
25progestin469.6STS, CYP19A1, PGR, VEGFA, GNRH1, ARSH
26steroidal469.5ARSH, STS, ESR2, PGR, SERPINA6, GNRH1
27diethylstilbestrol46 30 1211.5NR5A1, CYP19A1, PGR, ESR2, FST, GNRH1
28progestins469.5CYP19A1, SERPINA6, PGR, GNRH1, STS, ARSH
294-hydroxytamoxifen469.5CYP19A1, CYP1A1, PGR, ESR2, STS, ARSH
30docetaxel46 52 62 1212.4CYP1B1, PGR, CYP1A1, CYP19A1, VEGFA
31resveratrol46 62 25 1212.3CYP1A1, ESR2, PGR, VEGFA, CYP1B1
32cyclophosphamide46 52 1211.3PGR, VEGFA, CYP1A1, CYP1B1, CYP19A1, MUC16
3317beta-hydroxysteroid469.3CYP19A1, ARSH, NR5A1, CYP1B1, HSD17B1, PGR
34gnrh469.3ARSH, GNRH1, CYP19A1, NR5A1, ESR2, PGR
35androstenedione46 2510.2FST, CYP1B1, SERPINA6, CYP1A1, GNRH1, ESR2
36ribonucleic acid469.1FST, ESR2, SERPINA6, NR5A1, GNRH1, PGR
37genistein46 30 62 3 25 1214.0VEGFA, PGR, ESR2, CYP1B1, FST, CYP1A1
38dihydrotestosterone46 30 25 1211.9ARSH, STS, FST, ESR2, PGR, SERPINA6
39cycloheximide468.9CYP1A1, CYP1B1, VEGFA, CYP19A1, ESR2, NR5A1
40tamoxifen46 52 30 1211.8ARSH, STS, ESR2, PGR, SERPINA6, GNRH1
41adenylate468.7CYP1B1, GNRH1, SERPINA6, PGR, ESR2, FST
42paclitaxel46 52 1210.7CYP1A1, CYP1B1, VEGFA, CYP19A1, PGR, MUC16
43estrone46 30 25 1211.6SERPINA6, ARSH, NR5A1, STS, ESR2, HSD17B1
44retinoic acid46 259.4NR2F2, CYP1B1, CYP19A1, NR5A1, HNF1B, STS
45dexamethasone46 52 30 1211.3VEGFA, CYP1B1, CYP19A1, CYP1A1, ESR2, GNRH1
46estradiol46 25 129.8PGR, SERPINA6, HSD17B1, GNRH1, CYP1B1, CYP19A1
47testosterone46 62 25 1210.8PGR, CYP1B1, CYP19A1, CYP1A1, GNRH1, ESR2
48steroid467.8SERPINA6, HSD17B1, PGR, MUC16, FST, STS
49progesterone46 30 62 25 1211.6NR2F2, NR5A1, STS, FST, MUC16, ESR2
50estrogen467.3CYP1B1, VEGFA, GNRH1, HSD17B1, SERPINA6, PGR

GO Terms for genes affiliated with Endometriosis

About this section
Sources:
17Gene Ontology
See all sources

Biological processes related to Endometriosis according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1estrogen biosynthetic processGO:00670310.2CYP19A1, HSD17B1
2omega-hydroxylase P450 pathwayGO:09726710.1CYP1A1, CYP1B1
3steroid biosynthetic processGO:00669410.1HSD17B1, CYP19A1
4steroid metabolic processGO:00820210.1HSD17B1, CYP1B1, CYP19A1
5sterol metabolic processGO:01612510.1CYP1B1, CYP19A1
6epoxygenase P450 pathwayGO:01937310.0CYP1B1, CYP1A1
7cell-cell signalingGO:0072679.9NR5A1, ESR2, PGR, GNRH1
8xenobiotic metabolic processGO:0068059.5CYP1B1, CYP19A1, CYP1A1
9negative regulation of transcription from RNA polymerase II promoterGO:0001229.3VEGFA, ESR2, FST, HNF1B, NR2F2
10small molecule metabolic processGO:0442819.2CYP1A1, CYP19A1, CYP1B1, HSD17B1, STS, ARSH

Molecular functions related to Endometriosis according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygenGO:01671210.0CYP19A1, CYP1B1
2aromatase activityGO:07033010.0CYP1B1, CYP19A1, CYP1A1
3steroid bindingGO:0054969.9ESR2, PGR, SERPINA6
4oxygen bindingGO:0198259.9CYP1A1, CYP19A1, CYP1B1
5iron ion bindingGO:0055069.8CYP1B1, CYP19A1, CYP1A1
6ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activityGO:0048799.8NR2F2, NR5A1, ESR2, PGR
7steroid hormone receptor activityGO:0037079.8PGR, ESR2, NR5A1, NR2F2
8enzyme bindingGO:0198999.6NR5A1, ESR2, PGR, CYP1A1
9heme bindingGO:0200379.5CYP1B1, CYP19A1, CYP1A1

Products for genes affiliated with Endometriosis

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Endometriosis

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet