ENDOMETRIOSIS, SUSCEPTIBILITY TO, 1

General Information (adopted from Orphanet):

Synonyms, Signs: ENDO1
Number of Symptoms 14
OrphanetNr:
OMIM Id: 131200
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
Multifactorial
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0100607) Dysmenorrhea 8 / 7739
2
(HPO:0000144) Decreased fertility 11 / 7739
3
(OMIM) Ectopic placement of endometrial tissue 1 / 7739
4
(MedDRA:10014778) Endometriosis 2 / 7739
5
(OMIM) Peritoneal inflammation 1 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
(HPO:0001426) Multifactorial inheritance 37 / 7739
8
(MedDRA:10034665) Peritoneal fibrosis 1 / 7739
9
(OMIM) 'Chocolate' cysts of ovary 1 / 7739
10
(MedDRA:10034650) Peritoneal adhesions 1 / 7739
11
(OMIM) Dysmenorrhea, severe 1 / 7739
12
(OMIM) Pelvic pain, severe 1 / 7739
13
(HPO:0030127) Endometriosis 2 / 7739
14
(OMIM) Ovarian endometriotic cysts 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Endometriosis, often in the form of 'chocolate cysts' of the ovary, has been reported in sisters rather frequently and at least twice in mother and daughter(s). Hinson et al. (1981) reported 2 sisters with pelvic endometriosis and catamenial ...
Molecular genetics OMIM Treloar et al. (2005) sought to identify susceptibility loci for endometriosis using a positional-cloning approach starting with linkage analysis to identify genomic regions likely to harbor these genes. They conducted a linkage study of 1,176 families (931 Australian ...