MCID: END044
MIFTS: 70

Endometriosis malady

Reproductive diseases, Rare diseases categories
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Summaries for Endometriosis

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MedlinePlus:33 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 based summary: Endometriosis, also known as endometriosis, site unspecified, is related to endometrial stromal sarcoma and infertility. 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 danazol and ethynodiol diacetate 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:65 Endometriosis is a hormonal and immune system disease in which cells similar to that which line the... more...

Aliases & Classifications for Endometriosis

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Endometriosis, Aliases & Descriptions:

Name: Endometriosis 8 10 44 33
 
Endometriosis, Site Unspecified 62


Classifications:

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


External Ids:

Disease Ontology8 DOID:289
ICD9CM27 617, 617.9
NCIt39 C3014
MeSH34 D004715
ICD1025 N80, N80.9

Related Diseases for Endometriosis

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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 219)
idRelated DiseaseScoreTop Affiliating Genes
1endometrial stromal sarcoma31.4ESR2, PGR, CYP19A1
2infertility31.3FST, CYP1A1, CYP19A1, GNRH1, ESR2, NR5A1
3progesterone resistance31.2PGR
4adenofibroma31.1MUC16
5leiomyomatosis31.1GNRH1, PGR
6myoma31.0CYP19A1, PGR, GNRH1
7leiomyoma30.9ESR2, STS, CYP19A1, GNRH1, PGR
8endometrial carcinoma30.9ESR2, MUC16, PGR
9uterine fibroid30.8PGR, GNRH1
10ovarian serous cystadenocarcinoma30.7MUC16
11anovulation30.6CYP19A1, GNRH1
12cystadenocarcinoma30.6MUC16
13ovarian cyst30.6MUC16, ESR2, GNRH1, CYP19A1
14uterine disease30.5CYP19A1, HNF1B
15breast cancer30.4STS, ESR2, PGR, CYP1A1, CYP19A1
16adenocarcinoma30.4VEGFA, PGR, CYP1B1, STS, HNF1B, NR5A1
17ovarian disease30.4MUC16, GNRH1, CYP19A1
18ovarian cancer30.4VEGFA, GNRH1, FST, MUC16, PGR, CYP1A1
19prolactinoma30.3NR5A1, ESR2, GNRH1
20precocious puberty30.2GNRH1, CYP19A1
21pregnancy loss30.2CYP1B1, CYP1A1, GNRH1
22adenoma29.9NR5A1, NR2F2, CYP1B1, GNRH1, ESR2, FST
23choriocarcinoma29.8CYP19A1, NR5A1, GNRH1, ESR2, STS, FST
24colorectal cancer29.8MUC16, VEGFA, ESR2, CYP1A1, CYP1B1
25lung cancer29.7CYP1B1, CYP1A1, VEGFA, ESR2, MUC16
26prostate cancer29.2HNF1B, GNRH1, CYP1A1, CYP19A1, CYP1B1, STS
27peritonitis11.0
28adenomyosis10.8
29endotheliitis10.8
30sarcoma10.6
31breast fibroadenoma10.6PGR
32clear cell adenocarcinoma10.5
33pneumothorax10.5
34rare endometriosis10.5
35adenosarcoma10.5
36catamenial pneumothorax10.5
37estrogen excess10.5PGR, CYP19A1
38vaginitis10.5
39mucosulfatidosis10.4STS, ARSH
40chondrodysplasia punctata syndrome10.4ARSH, STS
41gonadal disease10.4GNRH1, NR5A1
42metachromatic leukodystrophy10.4STS, ARSH
43androgenetic alopecia10.4CYP19A1, STS
44gynecomastia10.4PGR, GNRH1, CYP19A1
45congenital adrenal hyperplasia10.4NR5A1, GNRH1, CYP19A1
46pericardial effusion10.4MUC16
47ovarian hyperstimulation syndrome10.4GNRH1, CYP19A1, VEGFA
48sertoli cell tumor10.4PGR, CYP19A1
49endometriosis of uterus10.4
50leydig cell tumor10.4CYP19A1, GNRH1, NR5A1

Graphical network of the top 20 diseases related to Endometriosis:



Diseases related to endometriosis

Symptoms for Endometriosis

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Drugs & Therapeutics for Endometriosis

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Genetic Tests for Endometriosis

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Anatomical Context for Endometriosis

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MalaCards organs/tissues related to Endometriosis:

32
Endothelial, Uterus, Ovary, Monocytes, Colon, Testes, T cells, Neutrophil, Liver, Cervix, Breast, Appendix, Lymph node, Pituitary, Bone, Smooth muscle, Kidney, Lung, Small intestine, Thyroid, Prostate, Eye, Cortex, Skeletal muscle, Testis, B cells

Animal Models for Endometriosis or affiliated genes

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Publications for Endometriosis

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Articles related to Endometriosis:

(show top 50)    (show all 2180)
idTitleAuthorsYear
1
Diaphragmatic hernia caused by heterotopic endometriosis in Chilaiditi syndrome: report of a case. (25115928)
2014
2
Bowel endometriosis: Colorectal surgeon's perspective in a multidisciplinary surgical team. (25400445)
2014
3
Leiomyomas beyond the uterus; benign metastasizing leiomyomatosis with paraaortic metastasizing endometriosis and intravenous leiomyomatosis: a case series and review of the literature. (25047270)
2014
4
Minimally invasive thoracoscopic mesh repair of diaphragmatic fenestrations for catamenial pneumothorax due to likely thoracic endometriosis: a case report. (24145272)
2013
5
Elevated immunoreactivity of RANTES and CCR1 correlate with the severity of stages and dysmenorrhea in women with deep infiltrating endometriosis. (23219091)
2013
6
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
7
Ileocolic intussusception due to a cecal endometriosis: case report and review of literature. (22676322)
2012
8
Extragenital endometrial stromal sarcoma arising in endometriosis. (22538201)
2012
9
Interleukin-1I^ stimulates the secretion of thymic stromal lymphopoietin (TSLP) from endometrioma stromal cells: possible involvement of TSLP in endometriosis. (22888172)
2012
10
In women with endometriosis anti-MA1llerian hormone levels are decreased only in those with previous endometrioma surgery. (22821432)
2012
11
Adenofibroma of the uterine cervix coexistent with endometriosis. (22795111)
2012
12
Polymorphic variants of folate and choline metabolism genes and the risk of endometriosis-associated infertility. (21429654)
2011
13
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
14
Association of the IL-6 gene 634C/G polymorphism with susceptibility to endometriosis]. (21983734)
2011
15
MicroRNA 135 regulates HOXA10 expression in endometriosis. (21956427)
2011
16
17Beta-hydroxysteroid dehydrogenase-2 deficiency and progesterone resistance in endometriosis. (20108182)
2010
17
Immunohistochemical expression of YKL-40 in peritoneal endometriosis. (19701838)
2010
18
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
19
Medical treatment for rectovaginal endometriosis: what is the evidence? (19574277)
2009
20
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
21
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
22
Experimental murine endometriosis induces DNA methylation and altered gene expression in eutopic endometrium. (18799756)
2009
23
Risk factors for deep endometriosis: a comparison with pelvic and ovarian endometriosis. (18023442)
2008
24
The effect of oral contraceptives on aromatase expression in the eutopic endometrium of patients with endometriosis. (18335325)
2008
25
Persistent bilateral ureteral obstruction secondary to endometriosis despite treatment with an aromatase inhibitor. (18555228)
2008
26
Role of melatonin in regulating matrix metalloproteinase-9 via tissue inhibitors of metalloproteinase-1 during protection against endometriosis. (18298469)
2008
27
Decreased expression of angiogenin in the eutopic endometrium from women with advanced stage endometriosis. (18955785)
2008
28
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
29
Xanthogranulomatous salpingitis associated with fallopian tube mucosal endometriosis: a clue to the pathogenesis. (17349571)
2007
30
Evaluation of clinical parameters and estrogen receptor alpha gene polymorphisms for patients with endometriosis. (16388018)
2006
31
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
32
Possible involvement of thrombin/protease-activated receptor 1 system in the pathogenesis of endometriosis. (15755869)
2005
33
Peritoneal fluid concentrations of interleukin-17 correlate with the severity of endometriosis and infertility of this disorder. (16045534)
2005
34
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
35
Increased pregnancy-associated plasma protein-A (PAPP-A) concentrations in peritoneal fluid of women with endometriosis. (12765344)
2003
36
Diagnosis and treatment of endometriosis. (12517244)
2003
37
Association of an A allele for interleukin-10 -627 gene promoter polymorphism with higher susceptibility to endometriosis. (14562641)
2003
38
Ovarian endometriosis and clear cell carcinoma, leiomyomatosis peritonealis disseminata, and endometrial adenocarcinoma: an unusual, pathogenetically related association. (11444203)
2001
39
Degranulating eosinophils in human endometriosis. (10793070)
2000
40
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
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

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Expression for genes affiliated with Endometriosis

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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

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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 II37
androgen biosynthesis37
estradiol biosynthesis I37
progesterone biosynthesis37
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 biosynthesis60
Androstenedione and testosterone biosynthesis and metabolism p.160
9.7CYP1A1, CYP19A1, HSD17B1, STS
89.6CYP1A1, CYP19A1, CYP1B1, HSD17B1
9
Show member pathways
Nuclear Receptors37
9.6PGR, ESR2, NR5A1, NR2F2
10
Show member pathways
Glucocorticoid andamp; Mineralcorticoid Metabolism37
9.4CYP1A1, CYP19A1, CYP1B1, HSD17B1, STS
11
Show member pathways
9.4STS, HSD17B1, CYP1B1, CYP19A1, CYP1A1

Compounds for genes affiliated with Endometriosis

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Compounds related to Endometriosis according to GeneCards/GeneDecks:

(show top 50)    (show all 203)
idCompoundScoreTop Affiliating Genes
1estradiol benzoate4410.1ESR2, CYP19A1, PGR, GNRH1
2leuprolide acetate4410.0ESR2, PGR, GNRH1, CYP19A1
3norelgestromin44 50 1112.0ARSH, PGR, STS
4bisphenol a4410.0ESR2, ARSH, CYP19A1, PGR
5clomiphene citrate4410.0ESR2, GNRH1, PGR, CYP19A1
6dydrogesterone44 28 1112.0ARSH, PGR, STS
7tibolone4410.0ARSH, STS, CYP19A1, PGR, GNRH1
8danazol44 24 1112.0CYP19A1, STS, ARSH, PGR, GNRH1
9nandrolone44 2411.0CYP19A1, PGR, SERPINA6, ESR2
10exemestane44 50 61 1112.9CYP19A1, ESR2, CYP1B1, PGR
11capecitabine44 50 1111.9CYP19A1, VEGFA, PGR, CYP1A1
12cyproteroneacetate449.9CYP19A1, GNRH1, SERPINA6, PGR
13fulvestrant44 50 28 1112.9ESR2, PGR, CYP1A1, CYP19A1
14toremifene44 1110.9GNRH1, CYP19A1, ESR2, CYP1A1, PGR
15estrone sulfate44 2410.9PGR, ARSH, STS, CYP1B1, CYP19A1
16letrozole44 50 61 1112.8STS, PGR, CYP19A1, ESR2, CYP1B1
173beta-hydroxysteroid449.8NR5A1, CYP19A1, PGR, ESR2, STS
18flutamide44 61 1111.8PGR, GNRH1, CYP1B1, CYP19A1, CYP1A1
19promegestone44 2810.8ARSH, STS, PGR
20levonorgestrel44 61 28 1112.8CYP19A1, SERPINA6, PGR, ESR2
21dehydroepiandrosterone sulfate449.7GNRH1, CYP19A1, SERPINA6, STS, NR5A1, ARSH
2217-hydroxyprogesterone44 2410.7GNRH1, CYP19A1, SERPINA6, MUC16
23dhea449.6CYP19A1, SERPINA6, ESR2, NR5A1, ARSH, STS
24mifepristone44 28 61 1112.6SERPINA6, CYP19A1, VEGFA, GNRH1, PGR, ESR2
25progestin449.6STS, CYP19A1, PGR, VEGFA, GNRH1, ARSH
26steroidal449.5ARSH, STS, ESR2, PGR, SERPINA6, GNRH1
27diethylstilbestrol44 28 1111.5NR5A1, CYP19A1, PGR, ESR2, FST, GNRH1
28progestins449.5CYP19A1, SERPINA6, PGR, GNRH1, STS, ARSH
294-hydroxytamoxifen449.5CYP19A1, CYP1A1, PGR, ESR2, STS, ARSH
30docetaxel44 50 61 1112.4CYP1B1, PGR, CYP1A1, CYP19A1, VEGFA
31resveratrol44 61 24 1112.3CYP1A1, ESR2, PGR, VEGFA, CYP1B1
32cyclophosphamide44 50 1111.3PGR, VEGFA, CYP1A1, CYP1B1, CYP19A1, MUC16
3317beta-hydroxysteroid449.3CYP19A1, ARSH, NR5A1, CYP1B1, HSD17B1, PGR
34gnrh449.3ARSH, GNRH1, CYP19A1, NR5A1, ESR2, PGR
35androstenedione44 2410.2FST, CYP1B1, SERPINA6, CYP1A1, GNRH1, ESR2
36ribonucleic acid449.1FST, ESR2, SERPINA6, NR5A1, GNRH1, PGR
37genistein44 28 61 2 24 1114.0VEGFA, PGR, ESR2, CYP1B1, FST, CYP1A1
38dihydrotestosterone44 28 24 1111.9ARSH, STS, FST, ESR2, PGR, SERPINA6
39cycloheximide448.9CYP1A1, CYP1B1, VEGFA, CYP19A1, ESR2, NR5A1
40tamoxifen44 50 28 1111.8ARSH, STS, ESR2, PGR, SERPINA6, GNRH1
41adenylate448.7CYP1B1, GNRH1, SERPINA6, PGR, ESR2, FST
42paclitaxel44 50 1110.7CYP1A1, CYP1B1, VEGFA, CYP19A1, PGR, MUC16
43estrone44 28 24 1111.6SERPINA6, ARSH, NR5A1, STS, ESR2, HSD17B1
44retinoic acid44 249.4NR2F2, CYP1B1, CYP19A1, NR5A1, HNF1B, STS
45dexamethasone44 50 28 1111.3VEGFA, CYP1B1, CYP19A1, CYP1A1, ESR2, GNRH1
46estradiol44 24 119.8PGR, SERPINA6, HSD17B1, GNRH1, CYP1B1, CYP19A1
47testosterone44 61 24 1110.8PGR, CYP1B1, CYP19A1, CYP1A1, GNRH1, ESR2
48steroid447.8SERPINA6, HSD17B1, PGR, MUC16, FST, STS
49progesterone44 28 61 24 1111.6NR2F2, NR5A1, STS, FST, MUC16, ESR2
50estrogen447.3CYP1B1, VEGFA, GNRH1, HSD17B1, SERPINA6, PGR

GO Terms for genes affiliated with Endometriosis

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Biological processes related to Endometriosis according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1estrogen biosynthetic processGO:00670310.3CYP19A1, HSD17B1
2steroid biosynthetic processGO:00669410.1CYP19A1, HSD17B1
3steroid metabolic processGO:00820210.1CYP19A1, CYP1B1, HSD17B1
4omega-hydroxylase P450 pathwayGO:09726710.1CYP1B1, CYP1A1
5sterol metabolic processGO:01612510.1CYP1B1, CYP19A1
6epoxygenase P450 pathwayGO:01937310.0CYP1B1, CYP1A1
7cell-cell signalingGO:0072679.9GNRH1, PGR, ESR2, NR5A1
8xenobiotic metabolic processGO:0068059.5CYP19A1, CYP1A1, CYP1B1
9negative regulation of transcription from RNA polymerase II promoterGO:0001229.3NR2F2, HNF1B, FST, ESR2, VEGFA
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:01671210.0CYP1B1, CYP19A1
2aromatase activityGO:07033010.0CYP19A1, CYP1B1, CYP1A1
3steroid bindingGO:0054969.9ESR2, PGR, SERPINA6
4oxygen bindingGO:0198259.9CYP1B1, CYP1A1, CYP19A1
5iron ion bindingGO:0055069.8CYP1A1, CYP19A1, CYP1B1
6ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activityGO:0048799.8NR5A1, PGR, ESR2, NR2F2
7steroid hormone receptor activityGO:0037079.8NR2F2, PGR, ESR2, NR5A1
8enzyme bindingGO:0198999.6NR5A1, ESR2, CYP1A1, PGR
9heme bindingGO:0200379.5CYP1B1, CYP19A1, CYP1A1

Products for genes affiliated with Endometriosis

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Sources for Endometriosis

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3CDC
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24HMDB
25ICD10
26ICD10 via Orphanet
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28IUPHAR
29KEGG
34MeSH
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36MGI
39NCIt
40NDF-RT
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