ESTRR
MCID: EST007
MIFTS: 46

Estrogen Resistance (ESTRR) malady

Categories: Genetic diseases, Reproductive diseases, Endocrine diseases, Rare diseases

Aliases & Classifications for Estrogen Resistance

Aliases & Descriptions for Estrogen Resistance:

Name: Estrogen Resistance 54 24 66 13 69
Estrogen Resistance Syndrome 56 29
Estrogen Insensitivity 24 66
Estrr 66

Characteristics:

Orphanet epidemiological data:

56
estrogen resistance syndrome
Inheritance: Autosomal recessive;

HPO:

32
estrogen resistance:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 615363
Orphanet 56 ORPHA785
MeSH 42 D004351

Summaries for Estrogen Resistance

UniProtKB/Swiss-Prot : 66 Estrogen resistance: A disorder characterized by partial or complete resistance to estrogens, in the presence of elevated estrogen serum levels. Clinical features include absence of the pubertal growth spurt, delayed bone maturation, unfused epiphyses, reduced bone mineral density, osteoporosis, continued growth into adulthood and very tall adult stature. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present.

MalaCards based summary : Estrogen Resistance, also known as estrogen resistance syndrome, is related to breast cancer and her2-receptor negative breast cancer, and has symptoms including osteopenia, osteoporosis and acanthosis nigricans. An important gene associated with Estrogen Resistance is ESR1 (Estrogen Receptor 1), and among its related pathways/superpathways are Plasma membrane estrogen receptor signaling and Aromatase Inhibitor Pathway (Breast Cell), Pharmacodynamics. The drugs Estradiol and Norethindrone have been mentioned in the context of this disorder. Affiliated tissues include bone, breast and ovary.

Wikipedia : 71 Estrogen insensitivity syndrome (EIS), or estrogen resistance, is a form of congenital estrogen... more...

Description from OMIM: 615363

Related Diseases for Estrogen Resistance

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

(show all 35)
id Related Disease Score Top Affiliating Genes
1 breast cancer 10.1
2 her2-receptor negative breast cancer 10.1 CYP19A1 ESR1
3 osteogenesis imperfecta 10.1 CYP19A1 ESR1
4 acute thyroiditis 10.1 CYP19A1 ESR1
5 perinatal jaundice due to hepatocellular damage 10.0 CYP19A1 ESR1
6 deafness, autosomal recessive 74 10.0 CYP19A1 ESR1
7 adams-oliver syndrome 6 10.0 CYP19A1 ESR1
8 larynx leiomyoma 10.0 CYP19A1 ESR1
9 liver sarcoma 10.0 CYP19A1 ESR1
10 esophagus sarcoma 10.0 CYP19A1 ESR1
11 van regemorter pierquin vamos syndrome 10.0 CYP19A1 ESR1
12 capillary disease 10.0 CYP19A1 ESR1
13 haverhill fever 10.0 CYP19A1 ESR1
14 glycerol kinase deficiency, adult form 10.0 CYP19A1 ESR1
15 breast duct papilloma 10.0 CYP19A1 ESR1
16 blepharochalasis 10.0 CYP19A1 ESR1
17 progesterone-receptor negative breast cancer 10.0 CYP19A1 ESR1
18 nephrogenic adenofibroma 10.0 CYP19A1 ESR1
19 progesterone-receptor positive breast cancer 10.0 CYP19A1 ESR1
20 spondylolysis 9.9 CYP19A1 ESR1
21 avoidant personality disorder 9.9 CYP19A1 ESR1
22 extraosseous ewing's sarcoma 9.9 CYP19A1 ESR1
23 black piedra 9.9 CYP19A1 ESR1
24 benign shuddering attacks 9.8 CYP19A1 ESR1
25 aromatase deficiency 9.6
26 systemic lupus erythematosus with nephritis 2 9.5 BCAR1 BCAR3 BCAR4 CYP19A1 ESR1
27 colorectal cancer 9.4
28 obesity 9.4
29 leukemia 9.4
30 lymphoma 9.4
31 esophagitis 9.4
32 adenocarcinoma 9.4
33 breast adenocarcinoma 9.4
34 endotheliitis 9.4
35 celiac disease 12 9.2 BCAR1 BCAR3 BCAR4 CYP19A1 ESR1 TRERF1

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



Diseases related to Estrogen Resistance

Symptoms & Phenotypes for Estrogen Resistance

Symptoms by clinical synopsis from OMIM:

615363

Clinical features from OMIM:

615363

Human phenotypes related to Estrogen Resistance:

56 32 (show all 25)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteopenia 56 32 Very frequent (99-80%) HP:0000938
2 osteoporosis 56 32 Very frequent (99-80%) HP:0000939
3 acanthosis nigricans 56 32 Frequent (79-30%) HP:0000956
4 acne 56 32 Frequent (79-30%) HP:0001061
5 increased circulating gonadotropin level 56 32 Very frequent (99-80%) HP:0000837
6 primary amenorrhea 56 32 Very frequent (99-80%) HP:0000786
7 hyperinsulinemia 56 32 Frequent (79-30%) HP:0000842
8 absence of secondary sex characteristics 56 32 Very frequent (99-80%) HP:0008187
9 episodic abdominal pain 56 32 Frequent (79-30%) HP:0002574
10 enlarged polycystic ovaries 56 32 Very frequent (99-80%) HP:0008675
11 hypoplasia of the uterus 56 32 Very frequent (99-80%) HP:0000013
12 overgrowth 56 32 Very frequent (99-80%) HP:0001548
13 breast hypoplasia 56 32 Very frequent (99-80%) HP:0003187
14 glucose intolerance 56 32 Frequent (79-30%) HP:0000833
15 marked delay in bone age 56 32 Very frequent (99-80%) HP:0003799
16 delayed epiphyseal ossification 56 32 Very frequent (99-80%) HP:0002663
17 absence of pubertal development 56 32 Very frequent (99-80%) HP:0008197
18 coronary atherosclerosis 56 32 Frequent (79-30%) HP:0004929
19 elevated tissue non-specific alkaline phosphatase 56 32 Frequent (79-30%) HP:0010679
20 delayed skeletal maturation 32 HP:0002750
21 tall stature 56 Very frequent (99-80%)
22 abnormality of the adrenal glands 56 Excluded (0%)
23 abnormality of circulating hormone level 56 Very frequent (99-80%)
24 abnormal testosterone level 56 Excluded (0%)
25 abnormality of the pubic hair 56 Excluded (0%)

Drugs & Therapeutics for Estrogen Resistance

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

(show top 50) (show all 326)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1 50-28-2 5757 53477783
2
Norethindrone Approved Phase 4 68-22-4 6230
3
Anastrozole Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 120511-73-1 2187
4
Exemestane Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 107868-30-4 60198
5
Letrozole Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 112809-51-5 3902
6
Tamoxifen Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 10540-29-1 2733526
7
Drospirenone Approved Phase 4,Phase 1,Phase 2 67392-87-4 68873
8
Ethinyl Estradiol Approved Phase 4,Phase 3,Phase 2,Phase 1 57-63-6 5991
9
Metformin Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 657-24-9 14219 4091
10
Everolimus Approved Phase 4,Phase 3,Phase 2,Phase 1 159351-69-6 6442177
11
Fulvestrant Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 129453-61-8 104741 17756771
12
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 22916-47-8 4189
13
Sirolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 53123-88-9 5284616 6436030 46835353
14
Methyltestosterone Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 58-18-4 6010
15
Testosterone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 58-22-0 6013
16
Benzocaine Approved Phase 4 1994-09-7, 94-09-7 2337
17
Acetylcysteine Approved, Investigational Phase 4,Phase 2,Phase 3 616-91-1 12035
18
Rosiglitazone Approved, Investigational Phase 4 122320-73-4 77999
19
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741 24759
20
Cyproterone Acetate Approved, Investigational Phase 4 427-51-0
21 Dienogest Approved Phase 4 65928-58-7
22
Nandrolone Approved, Experimental, Illicit Phase 4 434-22-0, 62-90-8 9904 229455
23
Nandrolone decanoate Approved, Illicit Phase 4 360-70-3 9677
24
Desogestrel Approved Phase 4,Phase 2,Phase 1 54024-22-5 40973
25
Leuprolide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 53714-56-0 3911 657181
26
Pioglitazone Approved, Investigational Phase 4,Early Phase 1 111025-46-8 4829
27
Progesterone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 57-83-0 5994
28
Menotropins Approved Phase 4,Phase 1,Phase 2 61489-71-2 5360545
29
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
30
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
31
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
32
Amikacin Approved, Vet_approved Phase 4 37517-28-5 37768
33
Aminosalicylic Acid Approved Phase 4 65-49-6 4649
34
Bedaquiline Approved Phase 4 843663-66-1
35
Capreomycin Approved Phase 4 11003-38-6 3000502
36
Clofazimine Approved, Investigational Phase 4 2030-63-9 2794
37
Cobicistat Approved Phase 4 1004316-88-4
38
Cycloserine Approved Phase 4 68-41-7 401 6234
39
Darunavir Approved Phase 4 635728-49-3, 206361-99-1 213039
40 Dolutegravir Approved Phase 4 1051375-16-6 54726191
41
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
42
Ethambutol Approved Phase 4 74-55-5 3279 14052
43
Ethionamide Approved Phase 4 536-33-4 2761171
44
Etonogestrel Approved, Investigational Phase 4 54048-10-1 40976 6917715
45
Etravirine Approved Phase 4 269055-15-4 193962
46
Isoniazid Approved Phase 4 54-85-3 3767
47
Kanamycin Approved, Vet_approved Phase 4 8063-07-8, 59-01-8 6032
48
Levofloxacin Approved, Investigational Phase 4 100986-85-4 149096
49
Linezolid Approved, Investigational Phase 4 165800-03-3 441401
50
Lopinavir Approved Phase 4 192725-17-0 92727

Interventional clinical trials:

(show top 50) (show all 217)
id Name Status NCT ID Phase
1 Oral Verses Patch Trial In Menopausal Women - Individualisation of Oestrogen Therapy Unknown status NCT02264743 Phase 4
2 Adding L-carnitine in Clomiphene Resistant Polycystic Ovary Improves the Quality of Ovulation and the Pregnancy Outcome Unknown status NCT01665547 Phase 4
3 Circulating miRNAs as Biomarkers of Hormone Sensitivity in Breast Cancer Unknown status NCT01612871 Phase 4
4 Chronic Effects of Estrogen in Microcirculation Completed NCT01295892 Phase 4
5 Exercise and Phytoestrogens: Effect on Factors Predisposing to Cardiovascular Disease(CVD) in Postmenopausal Women Completed NCT01048606 Phase 4
6 N-acetyl Cysteine for Ovulation Induction in Clomiphene Citrate Resistant Polycystic Ovary Syndrome Completed NCT02239107 Phase 4
7 Insulin Resistance, Polycystic Ovary Syndrome, and Bone Research Study Completed NCT00640224 Phase 4
8 Clinical, Metabolic and Endocrine Effects of the Treatment With Drospirenone and Ethinyl Estradiol Alone or in Combination With Myo-inositol in Young Women With Polycystic Ovary Syndrome (PCOS) and Insulin Resistance Completed NCT01511822 Phase 4
9 Dosage Optimization for Letrozole Treatment Completed NCT01315912 Phase 4
10 Clomiphene Plus N-acetyl Cysteine for Induction of Ovulation in Newly Diagnosed Pcos. Completed NCT01896492 Phase 4
11 Second-Line Treatments for Anovulatory Infertility in PCOS Patients Completed NCT00558077 Phase 4
12 Short-term Structured Exercise Training Program Plus Diet Intervention in Patients With Polycystic Ovary Syndrome (PCOS) Completed NCT01004068 Phase 4
13 Effects of Metformin vs Oral Contraceptives on CV Risk Markers in PCOS Completed NCT00428311 Phase 4
14 Treatment Choice in Primary Dysmenorrhea Completed NCT03124524 Phase 4
15 Methenamine Hippurate Versus Trimethoprim in the Prevention of Recurrent UTIs Recruiting NCT03077711 Phase 4
16 Safety and Efficacy of RAD001 (Everolimus) in Combination With Letrozole in the Treatment of Postmenopausal Women With Locally Advanced or Metastatic Breast Cancer Recruiting NCT01231659 Phase 4
17 Synthetic vs Natural Estrogen in Combined Oral Contraception Recruiting NCT02352090 Phase 4
18 Use of Low Dose of HCG During Ovulation Induction With CC in Women With CC Resistant PCOS Recruiting NCT02436226 Phase 4
19 Adding Prednisolone During Ovulation Induction With CC in Lean Women With CC Resistant PCOS Recruiting NCT02344888 Phase 4
20 Metformin for the Treatment of Unexplained Oligozspermia Recruiting NCT01529177 Phase 4
21 Pharmacokinetic Study of Antiretroviral Drugs and Related Drugs During and After Pregnancy Recruiting NCT00042289 Phase 4
22 Oral Contraceptives, Insulin Resistance and Cardiovascular Risk Profile in Pre-Menopausal Women Active, not recruiting NCT01475513 Phase 4
23 Oral Contraceptives in the Metabolic Syndrome Active, not recruiting NCT00205504 Phase 4
24 The Effects of OCP and Metformin on Clinical, Hormonal, Metabolic and Ultrasonographic Characteristics in PCOS Active, not recruiting NCT02866786 Phase 4
25 Polycystic Ovary Syndrome (PCOS) and Sleep Apnea Terminated NCT00203996 Phase 4
26 IVF Versus LOD in Women With CC Resistant PCOS Withdrawn NCT02456792 Phase 4
27 IVF Versus Gonadotropin Therapy in Women With CC Resistant PCOS Withdrawn NCT02458963 Phase 4
28 Fulvestrant With or Without Lapatinib and/or Aromatase Inhibitor Therapy in Treating Postmenopausal Women With Metastatic Breast Cancer That Progressed After Previous Aromatase Inhibitor Therapy Unknown status NCT00688194 Phase 3
29 The Efficacy and Safety of Retreatment With Transarterial Chemoembolization (TACE) for Patients Who Showed TACE-resistant: a Randomized Controlled Trial Unknown status NCT02220088 Phase 2, Phase 3
30 Prevention of Obesity in Women Via Estradiol Regulation Completed NCT00687739 Phase 3
31 Letrozole or Tamoxifen Citrate in Treating Older Postmenopausal Women Undergoing Surgery for Breast Cancer Completed NCT00949598 Phase 3
32 Effects of Genistein in Postmenopausal Women With Metabolic Syndrome Completed NCT01664650 Phase 2, Phase 3
33 NAC in CC Resistant PCOS After LOD Completed NCT02775734 Phase 2, Phase 3
34 Chemotherapy vs Hormonal Treatment in Platinum-resistant Ovarian Cancer Resistant or Refractory to Platinum and Taxane Completed NCT02728622 Phase 3
35 Comparison Between Letrozole and Urinary Purified FSH in Women With Clomiphene Citrate Resistant Polycystic Ovarian Syndrome. Completed NCT02304107 Phase 3
36 Extended Clomiphene Citrate Regimen in Women With Polycystic Ovary Syndrome Completed NCT02381184 Phase 2, Phase 3
37 Thermosensitive Gels for the Vaginal Delivery of Sildenafil Citrate Completed NCT02766725 Phase 2, Phase 3
38 Testosterone and Its Metabolites in GID Completed NCT00146146 Phase 3
39 Effect of Genistein in Women With Metabolic Syndrome Completed NCT00541710 Phase 2, Phase 3
40 Effects on Hemostasis, Lipids, Carbohydrate Metabolism, Adrenal & Thyroid Function of the Combined Oral Contraceptive NOMAC-E2 Compared to a COC Containing LNG-EE (292004)(COMPLETED)(P05764) Completed NCT00511355 Phase 3
41 Third Year Evaluation on Genistein Efficacy and Safety Completed NCT00626769 Phase 2, Phase 3
42 A PHASEII STUDY EVALUATING INTRAVENOUS MELPHALAN WITH AUTOLOGOUS WHOLE BLOOD STEM CELL TRANSPLANTATION (PBSCT)OVER THREE CYCLES IN PATIENTS WITH CASTRATION-RESISTANT PROSTATE CANCER (MEL-CAP). Recruiting NCT01907009 Phase 2, Phase 3
43 Fulvestrant and/or Anastrozole in Treating Postmenopausal Patients With Stage II-III Breast Cancer Undergoing Surgery Recruiting NCT01953588 Phase 3
44 Evaluation of Oral Care to Prevent Oral Mucositis in ER Positive MBC Patients Treated With Everolimus: Phase 3 RCT Recruiting NCT02376985 Phase 3
45 Phase III Study of Palbociclib (PD-0332991) in Combination With Endocrine Therapy (Exemestane or Fulvestrant) Versus Chemotherapy (Capecitabine) in Hormonal Receptor (HR) Positive/HER2 Negative Metastatic Breast Cancer (MBC) Patients With Resistance to No Recruiting NCT02028507 Phase 3
46 Comparison Between Letrozole and Laparoscopic Ovarian Drilling in Women With Clomiphene Resistant Polycystic Ovarian Syndrome (PCOS) Recruiting NCT02305693 Phase 3
47 Comparison Between Laparoscopic Ovarian Diathermy and Urinary Purified FSH in Women With Clomiphene Citrate Resistant Polycystic Ovarian Syndrome. Recruiting NCT02304536 Phase 3
48 Overcoming Endocrine Resistance in Metastatic Breast Cancer Recruiting NCT02394496 Phase 3
49 A Companion Sample Collection Protocol to Support the Discovery of Breast Cancer Aberrations With Treatment of CDK4/6 Therapy/LEE011/Ribociclib Recruiting NCT03050398 Phase 3
50 Letrozole Versus Laparoscopic Ovarian Drilling in Polycystic Ovary Syndrome Recruiting NCT03009838 Phase 3

Search NIH Clinical Center for Estrogen Resistance

Genetic Tests for Estrogen Resistance

Genetic tests related to Estrogen Resistance:

id Genetic test Affiliating Genes
1 Estrogen Resistance 29 24 ESR1

Anatomical Context for Estrogen Resistance

MalaCards organs/tissues related to Estrogen Resistance:

39
Bone, Breast, Ovary, Uterus, Adrenal Gland, Endothelial, B Cells

Publications for Estrogen Resistance

Articles related to Estrogen Resistance:

(show all 29)
id Title Authors Year
1
Stromal cells promote anti-estrogen resistance of breast cancer cells through an insulin-like growth factor binding protein 5 (IGFBP5)/B-cell leukemia/lymphoma 3 (Bcl-3) axis. ( 26515727 )
2015
2
Breast Cancer Anti-Estrogen Resistance 4 (BCAR4) Drives Proliferation of IPH-926 lobular Carcinoma Cells. ( 26317614 )
2015
3
Anti-estrogen Resistance in Human Breast Tumors Is Driven by JAG1-NOTCH4-Dependent Cancer Stem Cell Activity. ( 26387946 )
2015
4
A new class of small molecule estrogen receptor-alpha antagonists that overcome anti-estrogen resistance. ( 26575173 )
2015
5
Human enhancer of filamentation 1-induced colorectal cancer cell migration: Role of serine phosphorylation and interaction with the breast cancer anti-estrogen resistance 3 protein. ( 25817040 )
2015
6
Breast cancer anti-estrogen resistance 3 inhibits transforming growth factor I^/Smad signaling and associates with favorable breast cancer disease outcomes. ( 25499443 )
2014
7
Breast-cancer anti-estrogen resistance 4 (BCAR4) encodes a novel maternal-effect protein in bovine and is expressed in the oocyte of humans and other non-rodent mammals. ( 23202989 )
2013
8
Delayed puberty and estrogen resistance in a woman with estrogen receptor alpha variant. ( 23841731 )
2013
9
Reproductive endocrinology: ESR1 mutation causes estrogen resistance and puberty delay in women. ( 23897169 )
2013
10
Expression of breast cancer anti-estrogen resistance 1 in relation to vascular endothelial growth factor, p53, and prognosis in esophageal squamous cell cancer. ( 22816673 )
2013
11
Paradoxical roles for FOXA1 in anti-estrogen resistance and as a luminal differentiation factor in breast cancer. ( 25083421 )
2012
12
Breast cancer anti-estrogen resistance 3 (BCAR3) protein augments binding of the c-Src SH3 domain to Crk-associated substrate (p130cas). ( 22711540 )
2012
13
Breast cancer anti-estrogen resistance protein 1 (BCAR1/p130cas) in pulmonary disease tissue and serum. ( 21469768 )
2011
14
Anti-estrogen resistance in breast cancer is induced by the tumor microenvironment and can be overcome by inhibiting mitochondrial function in epithelial cancer cells. ( 22041887 )
2011
15
Selective recruitment of breast cancer anti-estrogen resistance genes and relevance for breast cancer progression and tamoxifen therapy response. ( 19966015 )
2010
16
Trefoil factor 3 is oncogenic and mediates anti-estrogen resistance in human mammary carcinoma. ( 21170268 )
2010
17
The substrate domain of BCAR1 is essential for anti-estrogen-resistant proliferation of human breast cancer cells. ( 19412734 )
2010
18
AND-34/BCAR3 differs from other NSP homologs in induction of anti-estrogen resistance, cyclin D1 promoter activation and altered breast cancer cell morphology. ( 17427198 )
2007
19
AND-34 activates phosphatidylinositol 3-kinase and induces anti-estrogen resistance in a SH2 and GDP exchange factor-like domain-dependent manner. ( 15671247 )
2005
20
Creation of estrogen resistance in vivo by transgenic overexpression of the heterogeneous nuclear ribonucleoprotein-related estrogen response element binding protein. ( 15976060 )
2005
21
[Estrogen resistance and aromatase deficiency in humans]. ( 12462077 )
2002
22
Phosphatidylinositol 3-kinase/AKT-mediated activation of estrogen receptor alpha: a new model for anti-estrogen resistance. ( 11139588 )
2001
23
BCAR1, a human homologue of the adapter protein p130Cas, induces anti-estrogen resistance in breast cancer cells. ( 10639512 )
2000
24
Aromatase deficiency and estrogen resistance: from molecular genetics to clinic. ( 11305285 )
2000
25
Increased expression of cytochrome p450 1A1 and 1B1 genes in anti-estrogen-resistant human breast cancer cell lines. ( 11093812 )
2000
26
Reversal of estrogen-resistance in murine mammary adenocarcinomas. ( 10424399 )
1999
27
Identification of a novel breast-cancer-anti-estrogen-resistance (BCAR2) locus by cell-fusion-mediated gene transfer in human breast-cancer cells. ( 9259413 )
1997
28
Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man. ( 8090165 )
1994
29
R-verapamil decreases anti-estrogen resistance in a breast cancer model. ( 1676580 )
1991

Variations for Estrogen Resistance

UniProtKB/Swiss-Prot genetic disease variations for Estrogen Resistance:

66
id Symbol AA change Variation ID SNP ID
1 ESR1 p.Gln375His VAR_070072 rs397509428
2 ESR1 p.Arg394His VAR_078516

ClinVar genetic disease variations for Estrogen Resistance:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ESR1 NM_001122742.1(ESR1): c.469C> T (p.Arg157Ter) single nucleotide variant Pathogenic rs104893956 GRCh37 Chromosome 6, 152163748: 152163748
2 ESR1 NM_000125.3(ESR1): c.1125G> T (p.Gln375His) single nucleotide variant Pathogenic rs397509428 GRCh37 Chromosome 6, 152332819: 152332819
3 CCDC170 NM_025059.3(CCDC170): c.1810G> A (p.Val604Ile) single nucleotide variant Likely pathogenic rs6929137 GRCh38 Chromosome 6, 151615542: 151615542
4 CCDC170 NC_000006.12: g.151627231G> A single nucleotide variant Likely pathogenic rs2046210 GRCh38 Chromosome 6, 151627231: 151627231

Expression for Estrogen Resistance

Search GEO for disease gene expression data for Estrogen Resistance.

Pathways for Estrogen Resistance

Pathways related to Estrogen Resistance according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.37 BCAR1 ESR1
2 9.23 CYP19A1 ESR1

GO Terms for Estrogen Resistance

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

id Name GO ID Score Top Affiliating Genes
1 steroid biosynthetic process GO:0006694 9.16 CYP19A1 TRERF1
2 androgen metabolic process GO:0008209 8.96 CYP19A1 ESR1
3 uterus development GO:0060065 8.62 CYP19A1 ESR1

Sources for Estrogen Resistance

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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38 LifeMap
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42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
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54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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