MCID: END071
MIFTS: 20

Endometriosis 1

Categories: Gastrointestinal diseases, Nephrological diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Endometriosis 1

MalaCards integrated aliases for Endometriosis 1:

Name: Endometriosis 1 58
Endometriosis, Susceptibility to, 1 58 13
Endo1 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive
multifactorial

Miscellaneous:
affects up to 10% of women in their reproductive years
autosomal recessive inheritance with decreased penetrance (50%) is associated with a susceptibility locus on chromosome 10q26


HPO:

33

Classifications:



External Ids:

OMIM 58 131200
MedGen 43 C1851649

Summaries for Endometriosis 1

MalaCards based summary : Endometriosis 1, also known as endometriosis, susceptibility to, 1, is related to endometriosis. An important gene associated with Endometriosis 1 is ENDO1 (Endometriosis, Susceptibility To, 1). The drugs Metformin and Glucagon have been mentioned in the context of this disorder. Affiliated tissues include ovary, and related phenotypes are decreased fertility and dysmenorrhea

Description from OMIM: 131200

Related Diseases for Endometriosis 1

Diseases in the Endometriosis family:

Endometriosis 1

Diseases related to Endometriosis 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 endometriosis 11.3

Symptoms & Phenotypes for Endometriosis 1

Human phenotypes related to Endometriosis 1:

33
# Description HPO Frequency HPO Source Accession
1 decreased fertility 33 HP:0000144
2 dysmenorrhea 33 HP:0100607
3 endometriosis 33 HP:0030127

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Internal Genitalia Female:
decreased fertility
endometriosis
ectopic placement of endometrial tissue
ovarian endometriotic cysts
'chocolate' cysts of ovary
more

Clinical features from OMIM:

131200

Drugs & Therapeutics for Endometriosis 1

Drugs for Endometriosis 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4 657-24-9 14219 4091
2
Glucagon Approved Phase 4 16941-32-5
3 Hormones Phase 4,Not Applicable
4 HIV Protease Inhibitors Phase 4
5 Incretins Phase 4
6 Sitagliptin Phosphate Phase 4
7 Glucagon-Like Peptide 1 Phase 4
8 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
9
protease inhibitors Phase 4
10 Hypoglycemic Agents Phase 4
11 Dipeptidyl-Peptidase IV Inhibitors Phase 4
12 Hormone Antagonists Phase 4
13 Trace Elements Phase 3
14 Micronutrients Phase 3
15 Nutrients Phase 3
16
Hydrocortisone Approved, Vet_approved 50-23-7 5754
17
Hydrocortisone acetate Approved, Vet_approved 50-03-3
18 Coagulants Not Applicable
19 Hemostatics Not Applicable
20 Hydrocortisone 17-butyrate 21-propionate
21 Hydrocortisone hemisuccinate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Predictive Parameters for Efficacy of Sitagliptin and Metformin Combination Completed NCT00969566 Phase 4 sitagliptin, metformin
2 Efficacy of Trace Elements in the Treatment of Endometriosis: a Pilot Study Unknown status NCT02437175 Phase 3
3 Effect of Shorten Gonadotropin-releasing Hormone Agonist Therapy on the Outcome of in Vitro Fertilization-Embryo Transfer in Patients With Endometriosis Unknown status NCT03006406 Not Applicable Long term GnRH-a (3.75mg)
4 Bowel ENDOmetriosis; Evaluation of Diagnostics and Quality of Life Recruiting NCT03779256
5 A New Approach for Controlling Hemostasis During Canal Treatment: a Pilot Study Completed NCT03060486 Not Applicable
6 Observational Study on Metabolism and Psychopathology in Transsexual Patients Active, not recruiting NCT02185274
7 Narrow Band Versus Conventional Endoscopic Imaging for Screening Colonoscopy Completed NCT00633620 Not Applicable

Search NIH Clinical Center for Endometriosis 1

Genetic Tests for Endometriosis 1

Anatomical Context for Endometriosis 1

MalaCards organs/tissues related to Endometriosis 1:

42
Ovary

Publications for Endometriosis 1

Variations for Endometriosis 1

Expression for Endometriosis 1

Search GEO for disease gene expression data for Endometriosis 1.

Pathways for Endometriosis 1

GO Terms for Endometriosis 1

Sources for Endometriosis 1

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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