ENDO1
MCID: END071
MIFTS: 17

Endometriosis 1 (ENDO1)

Categories: Nephrological diseases, Rare diseases, 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
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:

32

Classifications:



External Ids:

OMIM 57 131200
MedGen 42 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). 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 11.2

Symptoms & Phenotypes for Endometriosis 1

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Endometriosis 1:

32
# Description HPO Frequency HPO Source Accession
1 decreased fertility 32 HP:0000144
2 dysmenorrhea 32 HP:0100607
3 endometriosis 32 HP:0030127

Drugs & Therapeutics for Endometriosis 1

Search Clinical Trials , NIH Clinical Center for Endometriosis 1

Genetic Tests for Endometriosis 1

Anatomical Context for Endometriosis 1

MalaCards organs/tissues related to Endometriosis 1:

41
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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