Aliases & Classifications for Progesterone Resistance

MalaCards integrated aliases for Progesterone Resistance:

Name: Progesterone Resistance 53 28 13 51 69
Pseudocorpus Luteum Insufficiency 53

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
progesterone resistance:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 53 264080
MedGen 39 C1849699
SNOMED-CT via HPO 65 258211005 6738008
UMLS 69 C1849699

Summaries for Progesterone Resistance

OMIM : 53 Progesterone prepares the endometrium for blastocyst implantation and allows maintenance of pregnancy. The major sources of progesterone are the corpus luteum during the second half of the menstrual cycle and at the beginning of pregnancy, and the placenta. The main hormones responsible for stimulation of progesterone secretion are luteinizing hormone (LH) for the corpus luteum of the menstrual cycle and chorionic gonadotropin for the corpus luteum of pregnancy. Complete end-organ resistance to progesterone would be incompatible with reproductive competence in females. Males would not be expected to be affected since progesterone has no known function in men. Failure of the uterus to respond to progesterone would lead to the development of a 'constantly proliferative' endometrium incompatible with blastocyst implantation. Partial resistance to progesterone, on the other hand, would be expected to be associated with various degrees of incomplete maturation of the endometrium, perhaps expressed clinically as infertility or early abortions. The syndrome would present with the clinical and histologic picture of a luteal phase defect in which the life span of the corpus luteum and the plasma progesterone concentrations would be normal or elevated. (264080)

MalaCards based summary : Progesterone Resistance, also known as pseudocorpus luteum insufficiency, is related to endometriosis and endometrial disease, and has symptoms including abnormality of metabolism/homeostasis and female infertility. An important gene associated with Progesterone Resistance is PGR (Progesterone Receptor), and among its related pathways/superpathways are Relaxin signaling pathway and Nuclear Receptor transcription pathway. The drugs Progesterone and Follicle Stimulating Hormone have been mentioned in the context of this disorder. Affiliated tissues include placenta, uterus and breast, and related phenotypes are endocrine/exocrine gland and integument

Related Diseases for Progesterone Resistance

Diseases related to Progesterone Resistance via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 96)
# Related Disease Score Top Affiliating Genes
1 endometriosis 30.1 ESR1 ESR2 PGR
2 endometrial disease 29.6 ERRFI1 ESR1
3 uterine body mixed cancer 10.4 ESR2 PGR
4 uterine carcinosarcoma 10.3 ESR2 PGR
5 vulvar syringoma 10.3 ESR1 PGR
6 vestibular gland benign neoplasm 10.3 ESR1 PGR
7 lung leiomyoma 10.3 ESR1 PGR
8 bartholin's gland adenoma 10.3 ESR1 PGR
9 glassy cell carcinoma of the cervix 10.3 ESR1 PGR
10 vulvar benign neoplasm 10.3 ESR1 PGR
11 trigonitis 10.3 ESR1 PGR
12 vulvar leiomyoma 10.3 ESR1 PGR
13 predominantly cortical thymoma 10.3 ESR1 PGR
14 breast medullary carcinoma 10.3 ESR1 PGR
15 breast scirrhous carcinoma 10.3 ESR1 PGR
16 ovarian serous cystadenocarcinoma 10.3 ESR2 PGR
17 cribriform carcinoma 10.3 ESR1 PGR
18 oncocytic breast carcinoma 10.3 ESR1 PGR
19 bartholin's gland benign neoplasm 10.3 ESR1 PGR
20 endometrial squamous cell carcinoma 10.3 ESR1 PGR
21 gastric signet ring cell adenocarcinoma 10.3 ESR1 PGR
22 endometrial mucinous adenocarcinoma 10.3 ESR1 PGR
23 adenoid basal cell carcinoma 10.3 ESR1 PGR
24 deep angioma 10.3 ESR1 PGR
25 apocrine adenocarcinoma 10.3 ESR1 PGR
26 cervical carcinosarcoma 10.3 ESR1 PGR
27 synchronous bilateral breast carcinoma 10.3 ESR1 PGR
28 breast adenoid cystic carcinoma 10.3 ESR1 PGR
29 intramuscular hemangioma 10.3 ESR1 PGR
30 glycogen-rich clear cell breast carcinoma 10.3 ESR1 PGR
31 mammographic density 10.3 ESR1 PGR
32 retinitis pigmentosa 47 10.3 ESR1 PGR
33 adenomyosis 10.3 ESR1 PGR
34 retinitis pigmentosa 20 10.3 ESR1 PGR
35 postmenopausal atrophic vaginitis 10.3 ESR1 ESR2
36 luminal breast carcinoma 10.3 ESR1 PGR
37 breast benign neoplasm 10.3 ESR1 PGR
38 thoracic benign neoplasm 10.3 ESR1 PGR
39 adenosarcoma 10.3 ESR1 PGR
40 cervical clear cell adenocarcinoma 10.2 ESR1 PGR
41 uterine corpus cancer 10.2 ESR1 PGR
42 inflammatory breast carcinoma 10.2 ESR1 PGR
43 mixed cell type cancer 10.2 ESR1 PGR
44 lipid-rich carcinoma 10.2 ESR1 PGR
45 dental fluorosis 10.2 ESR1 ESR2
46 reproductive organ benign neoplasm 10.2 ESR1 PGR
47 uterine benign neoplasm 10.2 ESR1 PGR
48 serous cystadenocarcinoma 10.2 ESR2 PGR
49 peritoneal mesothelioma 10.2 ESR1 PGR
50 smooth muscle tumor 10.2 ESR1 PGR

Graphical network of the top 20 diseases related to Progesterone Resistance:



Diseases related to Progesterone Resistance

Symptoms & Phenotypes for Progesterone Resistance

Symptoms via clinical synopsis from OMIM:

53
GU:
female infertility
normal menstrual cycle
normal luteal phase duration

Lab:
normal plasma immunoreactive lh and progesterone
histologically immature endometrium
decreased endometrial progesterone receptors


Clinical features from OMIM:

264080

Human phenotypes related to Progesterone Resistance:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 31 HP:0001939
2 female infertility 31 HP:0008222

MGI Mouse Phenotypes related to Progesterone Resistance:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.77 ERRFI1 ESR1 ESR2 FKBP4 PGR
2 integument MP:0010771 9.72 ERRFI1 ESR1 ESR2 FKBP4 PGR
3 limbs/digits/tail MP:0005371 9.56 ESR1 ESR2 PGR ERRFI1
4 neoplasm MP:0002006 9.46 ERRFI1 ESR1 ESR2 PGR
5 renal/urinary system MP:0005367 9.35 ERRFI1 ESR1 ESR2 FKBP4 HSD17B2
6 reproductive system MP:0005389 9.02 ERRFI1 ESR1 ESR2 FKBP4 PGR

Drugs & Therapeutics for Progesterone Resistance

Drugs for Progesterone Resistance (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Progesterone Approved, Vet_approved Early Phase 1 57-83-0 5994
2 Follicle Stimulating Hormone Early Phase 1
3 Hormone Antagonists Early Phase 1
4 Hormones Early Phase 1
5 Hormones, Hormone Substitutes, and Hormone Antagonists Early Phase 1
6 Progestins Early Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Step Down FSH Approach and Late Follicular Phase in Progesterone Level Recruiting NCT03356964 Early Phase 1 follicle stimulating hormone

Search NIH Clinical Center for Progesterone Resistance

Genetic Tests for Progesterone Resistance

Genetic tests related to Progesterone Resistance:

# Genetic test Affiliating Genes
1 Progesterone Resistance 28 PGR

Anatomical Context for Progesterone Resistance

MalaCards organs/tissues related to Progesterone Resistance:

38
Placenta, Uterus, Breast

Publications for Progesterone Resistance

Articles related to Progesterone Resistance:

(show all 27)
# Title Authors Year
1
Cholesterol Synthetase DHCR24 Induced by Insulin Aggravates Cancer Invasion and Progesterone Resistance in Endometrial Carcinoma. ( 28112250 )
2017
2
Progesterone resistance in endometriosis: origins, consequences and interventions. ( 28423456 )
2017
3
KRAS Activation and over-expression of SIRT1/BCL6 Contributes to the Pathogenesis of Endometriosis and Progesterone Resistance. ( 28754906 )
2017
4
Human Endometrial Fibroblasts Derived from Mesenchymal Progenitors Inherit Progesterone Resistance and Acquire an Inflammatory Phenotype in the Endometrial Niche in Endometriosis. ( 27075616 )
2016
5
Metformin targeting autophagy overcomes progesterone resistance in endometrial carcinoma. ( 27402506 )
2016
6
Progesterone resistance in endometriosis is modulated by the altered expression of microRNA-29c and FKBP4. ( 27778641 )
2016
7
Upregulation of mitogen-inducible gene 6 triggers antitumor effect and attenuates progesterone resistance in endometrial carcinoma cells. ( 26450625 )
2015
8
Endometrial progesterone resistance and PCOS. ( 24405633 )
2014
9
Progesterone receptor isoforms A and B: new insights into the mechanism of progesterone resistance for the treatment of endometrial carcinoma. ( 24386010 )
2013
10
Mechanisms of endometrial progesterone resistance. ( 22085558 )
2012
11
Progesterone resistance in PCOS endometrium: a microarray analysis in clomiphene citrate-treated and artificial menstrual cycles. ( 21411543 )
2011
12
Dioxin and endometrial progesterone resistance. ( 20104429 )
2010
13
Progesterone resistance and endometrial disease. Preface. ( 20104423 )
2010
14
Estrogen receptor-beta, estrogen receptor-alpha, and progesterone resistance in endometriosis. ( 20104427 )
2010
15
Progesterone resistance in a baboon model of endometriosis. ( 20104431 )
2010
16
Revisiting reproduction: Prematurity and the puzzle of progesterone resistance. ( 20448578 )
2010
17
Altered gene expression profiling in endometrium: evidence for progesterone resistance. ( 20104428 )
2010
18
17Beta-hydroxysteroid dehydrogenase-2 deficiency and progesterone resistance in endometriosis. ( 20108182 )
2010
19
Subfertility linked to combined luteal insufficiency and uterine progesterone resistance. ( 20660062 )
2010
20
Endometriosis is associated with progesterone resistance in the baboon (Papio anubis) oviduct: evidence based on the localization of oviductal glycoprotein 1 (OVGP1). ( 18923157 )
2009
21
FKBP52 deficiency-conferred uterine progesterone resistance is genetic background and pregnancy stage specific. ( 17571166 )
2007
22
Gene expression analysis of endometrium reveals progesterone resistance and candidate susceptibility genes in women with endometriosis. ( 17510236 )
2007
23
The altered distribution of the steroid hormone receptors and the chaperone immunophilin FKBP52 in a baboon model of endometriosis is associated with progesterone resistance during the window of uterine receptivity. ( 17636225 )
2007
24
Progesterone resistance in endometriosis: link to failure to metabolize estradiol. ( 16406281 )
2006
25
Subfertility, uterine hypoplasia, and partial progesterone resistance in mice lacking the Kruppel-like factor 9/basic transcription element-binding protein-1 (Bteb1) gene. ( 15117941 )
2004
26
Progesterone resistance in women who have had breast cancer. ( 9532998 )
1998
27
Progesterone resistance. ( 3087144 )
1986

Variations for Progesterone Resistance

Expression for Progesterone Resistance

Search GEO for disease gene expression data for Progesterone Resistance.

Pathways for Progesterone Resistance

GO Terms for Progesterone Resistance

Biological processes related to Progesterone Resistance according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.43 ESR1 MIR29C PGR
2 lung alveolus development GO:0048286 9.32 ERRFI1 PGR
3 intracellular estrogen receptor signaling pathway GO:0030520 9.16 ESR1 ESR2
4 transcription initiation from RNA polymerase II promoter GO:0006367 9.13 ESR1 ESR2 PGR
5 steroid hormone mediated signaling pathway GO:0043401 8.8 ESR1 ESR2 PGR

Molecular functions related to Progesterone Resistance according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.63 ESR1 ESR2 PGR
2 lipid binding GO:0008289 9.58 ESR1 ESR2 PGR
3 ATPase binding GO:0051117 9.48 ESR1 PGR
4 core promoter sequence-specific DNA binding GO:0001046 9.43 ESR1 ESR2
5 steroid hormone receptor activity GO:0003707 9.43 ESR1 ESR2 PGR
6 estrogen receptor activity GO:0030284 9.37 ESR1 ESR2
7 nuclear receptor activity GO:0004879 9.33 ESR1 ESR2 PGR
8 estrogen response element binding GO:0034056 9.32 ESR1 ESR2
9 RNA polymerase II transcription factor activity, estrogen-activated sequence-specific DNA binding GO:0038052 8.96 ESR1 ESR2
10 steroid binding GO:0005496 8.8 ESR1 ESR2 PGR

Sources for Progesterone Resistance

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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