ENDO1
MCID: END071
MIFTS: 21

Endometriosis 1 (ENDO1)

Categories: Reproductive diseases

Aliases & Classifications for Endometriosis 1

MalaCards integrated aliases for Endometriosis 1:

Name: Endometriosis 1 57
Endometriosis, Susceptibility to, 1 57 13
Endo1 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31

Classifications:



External Ids:

OMIM® 57 131200
MedGen 41 C1851649

Summaries for Endometriosis 1

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

More information 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 retinoblastoma 10.0
2 endometriosis 9.8

Symptoms & Phenotypes for Endometriosis 1

Human phenotypes related to Endometriosis 1:

31
# Description HPO Frequency HPO Source Accession
1 decreased fertility 31 HP:0000144
2 dysmenorrhea 31 HP:0100607
3 endometriosis 31 HP:0030127

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

Drugs & Therapeutics for Endometriosis 1

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Multicenter, Randomized, Open Label Phase II Study of KLH-2109 in Patients With Endometriosis(1) Completed NCT01395940 Phase 2 KLH-2109;KLH-2109
2 ENDO - Bowel ENDOmetriosis; Evaluation of Diagnostics and Quality of Life (ENDO1, ENDO2, ENDO3) Completed NCT03779256

Search NIH Clinical Center for Endometriosis 1

Genetic Tests for Endometriosis 1

Anatomical Context for Endometriosis 1

MalaCards organs/tissues related to Endometriosis 1:

40
Ovary, Pancreas, Uterus, Monocytes

Publications for Endometriosis 1

Articles related to Endometriosis 1:

(show top 50) (show all 54)
# Title Authors PMID Year
1
A genome-wide association study identifies genetic variants in the CDKN2BAS locus associated with endometriosis in Japanese. 57
20601957 2010
2
Endometriosis. 57
19144942 2009
3
Genomewide linkage study in 1,176 affected sister pair families identifies a significant susceptibility locus for endometriosis on chromosome 10q26. 57
16080113 2005
4
Role of K-ras and Pten in the development of mouse models of endometriosis and endometrioid ovarian cancer. 57
15619626 2005
5
Detection of DNA copy number changes in human endometriosis by comparative genomic hybridization. 57
10598811 1999
6
Cancer risk after a hospital discharge diagnosis of endometriosis. 57
9077609 1997
7
Endometriosis. 57
8110213 1993
8
Catamenial pneumothorax in sisters. 57
7297159 1981
9
[Familial endometriosis, a hereditary condition?]. 57
13925235 1962
10
The familial occurrence of endometriosis; report of five instances and review of the literature. 57
13394631 1957
11
The histogenesis of endometriosis; recent contributions. 57
13063835 1953
12
Appendectomy in the surgical management of women with endometriosis and pelvic pain. 61
33483967 2021
13
Xanthogranulomatous Salpingitis. 61
31433377 2020
14
Evaluation of complement system proteins C3a, C5a and C6 in patients of endometriosis. 61
32325082 2020
15
Laparoscopic Partial Bladder Cystectomy for Bladder Endometriosis: A Combined Cystoscopic and Laparoscopic approach. 61
31306798 2020
16
Feasibility, Complications, and Recurrence after Discoid Resection for Colorectal Endometriosis: A Series of 93 Cases. 61
31326634 2020
17
Iatrogenic endometriosis following apical pelvic organ prolapse surgery: a case report. 61
31901247 2020
18
Preemptive Appendicectomy at the Time of Pancreas Transplantation: Is It Necessary? 61
31580234 2019
19
[The content of cytokines IL-6, IL-8, TNF-α, IL-4 and the level of expression in macrophages CD86 and CD163 in peritoneal fluid has a reverse correlation with the degree of severity of external genital endometriosis]. 61
31666417 2019
20
Pathogenomics of Endometriosis Development. 61
29937493 2018
21
Impact of Pelvic Pain and Endometriosis on Patient-Reported Outcomes and Experiences of Benign Hysterectomy: A Study from the Swedish National Register for Gynecological Surgery. 61
29148910 2018
22
Multidisciplinary Resection of Deeply Infiltrative Endometriosis. 61
29030292 2018
23
[Laparoendoscopic single site (LESS) ureteral reimplantation.] 61
28530629 2017
24
Robotic Single-Site Endometriosis Resection Using Firefly Technology. 61
26260298 2016
25
Urinary biomarkers for the non-invasive diagnosis of endometriosis. 61
26695425 2015
26
Post-traumatic amenorrhea: the role of diagnostic and operative hysteroscopy in the prevention, diagnosis, differential diagnosis and treatment. 61
24569405 2014
27
Correlation between MRI and double-balloon urethrography findings in the diagnosis of female periurethral lesions. 61
24016825 2013
28
Endometrioid stromal sarcoma: a clinicopathologic study of 63 cases. 61
24121169 2013
29
CDC42-positive macrophages may prevent malignant transformation of ovarian endometriosis. 61
21944080 2012
30
Fourteen-year experience with laparoscopic ventrosuspension in patients with retroverted and retroflected uterus and pelvic pain syndromes. 61
20955984 2010
31
Cornual pregnancy as a complicaton of the use of a levonorgestrel intrauterine device: a case report. 61
19830226 2009
32
Fibromuscular differentiation in deeply infiltrating endometriosis is a reaction of resident fibroblasts to the presence of ectopic endometrium. 61
18716038 2008
33
[Is extrauterine endometriosis confined to the gynecological sphere? A critical review of the experience in a general surgery unit]. 61
17419904 2007
34
Self-expanding metallic stents in the treatment of benign colorectal disease: indications and outcomes. 61
16412069 2006
35
[Importance of the tridimensional ultrasound in the anorectal evaluation]. 61
16444377 2005
36
[Effect of combined surgical and pharmacologic treatment on peripheral blood cytokine concentrations in women with endometriosis]. 61
14669448 2003
37
Peroxisome proliferator-activated receptor-gamma ligand inhibition of RANTES production by human endometriotic stromal cells is mediated through an upstream promoter element. 61
12909507 2003
38
[Expression of Bcl-2 and Bax protein in endometriosis]. 61
12934347 2003
39
Hysterectomy: an analysis of perioperative and post operative complication. 61
16388212 2003
40
The significance of psammoma bodies that are found incidentally during endometrial biopsy. 61
11854631 2002
41
Loss of heterozygosity on 10q23.3 and mutation of the tumor suppressor gene PTEN in benign endometrial cyst of the ovary: possible sequence progression from benign endometrial cyst to endometrioid carcinoma and clear cell carcinoma of the ovary. 61
11156411 2000
42
Is endometriosis an endometrial disease? 61
10869783 2000
43
[Ureteral and vesicular endometriosis: case report]. 61
10434329 1999
44
Rates of endometriosis recurrence and pregnancy 1 year after treatment with intranasal buserelin acetate (Suprecur) (a prospective study). 61
10467787 1999
45
Clinical evaluation of follow-up methods and results of atypical glandular cells of undetermined significance (AGUS) detected on cervicovaginal Pap smears. 61
10329049 1999
46
Lysophosphatidyl choline, a chemotactic factor for monocytes/T-lymphocytes is elevated in endometriosis. 61
9626147 1998
47
Effectiveness of positron emission tomography for the detection of melanoma metastases. 61
9605668 1998
48
Advanced laparoscopic surgery for the removal of rectovaginal septum endometriotic or adenomyotic nodules. 61
8821254 1995
49
Three years experience with a new balloon catheter for the management of haemoptysis. 61
7875278 1994
50
[Pelvic endometriosis of urinary and digestive sites. Apropos of 7 cases]. 61
1474522 1992

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
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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