MCID: EST007
MIFTS: 47

Estrogen Resistance

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

Aliases & Classifications for Estrogen Resistance

MalaCards integrated aliases for Estrogen Resistance:

Name: Estrogen Resistance 54 24 71 29 13 69
Estrogen Insensitivity 24 71
Estrogen Resistance Syndrome 56
Estrr 71

Characteristics:

Orphanet epidemiological data:

56
estrogen resistance syndrome
Inheritance: Autosomal recessive;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
based on 2 reported patients, 1 male and 1 female (last curated august 2013)


HPO:

32
estrogen resistance:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Estrogen Resistance

UniProtKB/Swiss-Prot : 71 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 insensitivity, is related to aromatase deficiency and her2-receptor positive breast cancer, and has symptoms including acne, glucose intolerance and hyperinsulinemia. An important gene associated with Estrogen Resistance is ESR1 (Estrogen Receptor 1), and among its related pathways/superpathways are Tyrosine Kinases / Adaptors and Plasma membrane estrogen receptor signaling. The drugs Estradiol and Norethindrone have been mentioned in the context of this disorder. Affiliated tissues include breast, ovary and bone.

Wikipedia : 72 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 33)
id Related Disease Score Top Affiliating Genes
1 aromatase deficiency 11.2
2 her2-receptor positive breast cancer 10.2 CYP19A1 ESR1
3 osteogenesis imperfecta 10.2 CYP19A1 ESR1
4 acute thyroiditis 10.2 CYP19A1 ESR1
5 perinatal jaundice due to hepatocellular damage 10.2 CYP19A1 ESR1
6 subglottis neoplasm 10.2 CYP19A1 ESR1
7 aromatase excess syndrome 10.2 CYP19A1 ESR1
8 esophagus sarcoma 10.2 CYP19A1 ESR1
9 vagina, absence of 10.2 CYP19A1 ESR1
10 liver sarcoma 10.2 CYP19A1 ESR1
11 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria 10.2 CYP19A1 ESR1
12 breast disease 10.1 CYP19A1 ESR1
13 breast duct papilloma 10.1 CYP19A1 ESR1
14 capillary disease 10.1 CYP19A1 ESR1
15 progesterone-receptor positive breast cancer 10.1 CYP19A1 ESR1
16 spondylolysis 10.1 CYP19A1 ESR1
17 breast cancer 10.1
18 haverhill fever 10.1 CYP19A1 ESR1
19 nephrogenic adenofibroma 10.0 CYP19A1 ESR1
20 estrogen-receptor negative breast cancer 10.0 CYP19A1 ESR1
21 avoidant personality disorder 9.9 CYP19A1 ESR1
22 benign shuddering attacks 9.9 CYP19A1 ESR1
23 acute pancreatitis 9.9 CYP19A1 ESR1
24 histiocytoma 9.8 CYP19A1 ESR1
25 black piedra 9.6 CYP19A1 ESR1
26 esophagitis 9.5
27 adenocarcinoma 9.5
28 endotheliitis 9.5
29 colorectal cancer 9.5
30 leukemia 9.5
31 lymphoma 9.5
32 systemic lupus erythematosus with nephritis 2 8.6 BCAR1 BCAR3 BCAR4 CYP19A1 ESR1
33 parkinson disease, juvenile, type 2 7.8 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 via clinical synopsis from OMIM:

54

Skeletal:
osteopenia
delayed bone age (in male and female patients)
low trabecular volumetric bone density (in male patient)
low cortical volumetric bone density (in male patient)

Growth- Height:
continued growth into adulthood (in male and female patients)

Chest- Breasts:
absent breast development
breast development unresponsive to oral estrogen

Skeletal- Spine:
decreased bone mineral density of lumbar spine (in male patient)

Skin Nails & Hair- Skin:
acanthosis nigricans, axillary (in male patient)
severe facial acne (in female patient)

Genitourinary- Internal Genitalia Female:
primary amenorrhea
small uterus
large multicystic ovaries

Cardiovascular- Heart:
early atherosclerosis of coronary artery (in male patient)

Genitourinary- External Genitalia Female:
tanner stage 4 pubic hair

Skeletal- Limbs:
incomplete epiphyseal closures in adulthood (in male and female patients)

Endocrine Features:
elevated serum estradiol (in male and female patients)
elevated serum estrone (in male and female patients)
elevated serum follicle-stimulating hormone (in male and female patients)
elevated serum luteinizing hormone (in male and female patients)
hyperinsulinemia (in male patient)
more

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 acne 56 32 frequent (33%) Frequent (79-30%) HP:0001061
2 glucose intolerance 56 32 frequent (33%) Frequent (79-30%) HP:0000833
3 hyperinsulinemia 56 32 frequent (33%) Frequent (79-30%) HP:0000842
4 osteoporosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000939
5 breast hypoplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0003187
6 osteopenia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000938
7 coronary atherosclerosis 56 32 frequent (33%) Frequent (79-30%) HP:0004929
8 primary amenorrhea 56 32 hallmark (90%) Very frequent (99-80%) HP:0000786
9 acanthosis nigricans 56 32 frequent (33%) Frequent (79-30%) HP:0000956
10 episodic abdominal pain 56 32 frequent (33%) Frequent (79-30%) HP:0002574
11 overgrowth 56 32 hallmark (90%) Very frequent (99-80%) HP:0001548
12 delayed epiphyseal ossification 56 32 hallmark (90%) Very frequent (99-80%) HP:0002663
13 enlarged polycystic ovaries 56 32 hallmark (90%) Very frequent (99-80%) HP:0008675
14 absence of pubertal development 56 32 hallmark (90%) Very frequent (99-80%) HP:0008197
15 marked delay in bone age 56 32 hallmark (90%) Very frequent (99-80%) HP:0003799
16 increased circulating gonadotropin level 56 32 hallmark (90%) Very frequent (99-80%) HP:0000837
17 absence of secondary sex characteristics 56 32 hallmark (90%) Very frequent (99-80%) HP:0008187
18 hypoplasia of the uterus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000013
19 elevated tissue non-specific alkaline phosphatase 56 32 frequent (33%) Frequent (79-30%) HP:0010679
20 tall stature 56 Very frequent (99-80%)
21 delayed skeletal maturation 32 HP:0002750
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 264)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 50-28-2 5757
2
Norethindrone Approved Phase 4 68-22-4 6230
3
Metformin Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 657-24-9 14219 4091
4
Anastrozole Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 120511-73-1 2187
5
Exemestane Approved, Investigational Phase 4,Phase 3,Phase 2 107868-30-4 60198
6
Letrozole Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 112809-51-5 3902
7
Tamoxifen Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 10540-29-1 2733526
8
Everolimus Approved Phase 4,Phase 3,Phase 2,Phase 1 159351-69-6 6442177
9
Fulvestrant Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 129453-61-8 104741 17756771
10
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 22916-47-8 4189
11
Sirolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 53123-88-9 5284616 6436030 46835353
12
Drospirenone Approved Phase 4 67392-87-4 68873
13
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
14
Testosterone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 58-22-0 6013
15
Benzocaine Approved Phase 4 1994-09-7, 94-09-7 2337
16
Acetylcysteine Approved, Investigational Phase 4,Phase 2,Phase 3 616-91-1 12035
17
Rosiglitazone Approved, Investigational Phase 4 122320-73-4 77999
18
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741 24759
19
Cyproterone Acetate Approved, Investigational Phase 4 427-51-0
20
Palbociclib Approved Phase 4,Phase 3,Phase 2 571190-30-2 11431660 5005498 5330286
21
Leuprolide Approved, Investigational Phase 4,Phase 3,Phase 2 53714-56-0 3911 657181
22
Pioglitazone Approved, Investigational Phase 4,Early Phase 1 111025-46-8 4829
23
Progesterone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 57-83-0 5994
24
Menotropins Approved Phase 4,Phase 1,Phase 2 61489-71-2, 9002-68-0 5360545
25
Methenamine Approved, Vet_approved Phase 4 100-97-0 4101
26
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
27
Dienogest Approved Phase 4 65928-58-7
28
Nandrolone Approved, Experimental, Illicit Phase 4 434-22-0, 62-90-8 9904 229455
29
Nandrolone decanoate Approved, Illicit Phase 4 360-70-3 9677
30
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
31
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
32
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
33
Norgestimate Approved Phase 4 35189-28-7 6540478
34
Zinc Approved Phase 4,Phase 1,Phase 2 7440-66-6 32051 23994
35 tannic acid Approved, Nutraceutical Phase 4
36
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3 59-30-3 6037
37
leucovorin Approved, Nutraceutical Phase 4,Phase 3 58-05-9 143 6006
38
Enclomiphene Investigational Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 15690-57-0
39
2,4-thiazolidinedione Investigational Phase 4 2295-31-0
40 Contraceptive Agents Phase 4,Phase 3,Phase 2,Early Phase 1
41 Contraceptives, Oral Phase 4
42 Estradiol 17 beta-cypionate Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
43 Estradiol 3-benzoate Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
44 Estradiol valerate Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 979-32-8
45 Estrogens Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
46 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
47 Hormones Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
48 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
49 Norethindrone acetate Phase 4
50 Polyestradiol phosphate Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1

Interventional clinical trials:

(show top 50) (show all 183)

id Name Status NCT ID Phase Drugs
1 Oral Verses Patch Trial In Menopausal Women - Individualisation of Oestrogen Therapy Unknown status NCT02264743 Phase 4 Femoston Conti;EVOREL® CONTI
2 Adding L-carnitine in Clomiphene Resistant Polycystic Ovary Improves the Quality of Ovulation and the Pregnancy Outcome Unknown status NCT01665547 Phase 4 l-carnitine
3 Metformin for the Treatment of Unexplained Oligozspermia Unknown status NCT01529177 Phase 4 Metformin / clomid / hCG;Clomiphene citrate / hCG
4 Circulating miRNAs as Biomarkers of Hormone Sensitivity in Breast Cancer Unknown status NCT01612871 Phase 4 Tamoxifen, Letrozole , Anastrozole, Exemestane
5 Chronic Effects of Estrogen in Microcirculation Completed NCT01295892 Phase 4 Estrogen
6 Safety and Efficacy of RAD001 (Everolimus) in Combination With Letrozole in the Treatment of Postmenopausal Women With Locally Advanced or Metastatic Breast Cancer Completed NCT01231659 Phase 4 Everolimus + Letrozole
7 Exercise and Phytoestrogens: Effect on Factors Predisposing to Cardiovascular Disease(CVD) in Postmenopausal Women Completed NCT01048606 Phase 4
8 N-acetyl Cysteine for Ovulation Induction in Clomiphene Citrate Resistant Polycystic Ovary Syndrome Completed NCT02239107 Phase 4 N-Acetyl cysteine
9 Insulin Resistance, Polycystic Ovary Syndrome, and Bone Research Study Completed NCT00640224 Phase 4 rosiglitazone;drospirenone/ethinyl estradiol
10 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 Drospirenone Ethinyl estradiol;Drospirenone Ethinyl estradiol Myo-inositol;placebo
11 Dosage Optimization for Letrozole Treatment Completed NCT01315912 Phase 4 Letrozole
12 Clomiphene Plus N-acetyl Cysteine for Induction of Ovulation in Newly Diagnosed Pcos. Completed NCT01896492 Phase 4 NAC
13 Second-Line Treatments for Anovulatory Infertility in PCOS Patients Completed NCT00558077 Phase 4 Metformin plus clomiphene citrate
14 Methenamine Hippurate Versus Trimethoprim in the Prevention of Recurrent UTIs Recruiting NCT03077711 Phase 4 Trimethoprim;Methenamine hippurate
15 Synthetic vs Natural Estrogen in Combined Oral Contraception Recruiting NCT02352090 Phase 4 Ethinyl estradiol / dienogest;Estradiol valerate / dienogest;Dienogest
16 Use of Low Dose of HCG During Ovulation Induction With CC in Women With CC Resistant PCOS Recruiting NCT02436226 Phase 4 Clomiphene citrate and Human chorionic gonadotropin (HCG);Clomiphene citrate
17 Adding Prednisolone During Ovulation Induction With CC in Lean Women With CC Resistant PCOS Recruiting NCT02344888 Phase 4 Clomiphene citrate and Prednisolone;Clomiphene citrate
18 Oral Contraceptives, Insulin Resistance and Cardiovascular Risk Profile in Pre-Menopausal Women Active, not recruiting NCT01475513 Phase 4 Ortho Cyclen®
19 Oral Contraceptives in the Metabolic Syndrome Active, not recruiting NCT00205504 Phase 4 Ortho Tri Cyclen
20 The Effects of OCP and Metformin on Clinical, Hormonal, Metabolic and Ultrasonographic Characteristics in PCOS Active, not recruiting NCT02866786 Phase 4 Metformin;ethinyl estradiol and cyproterone acetate
21 Impact of eHealth-support on Quality of Life in Metastatic Breast Cancer Patients Treated With Palbociclib and Endocrine Therapy Not yet recruiting NCT03220178 Phase 4 Palbociclib;Fulvestrant;Anastrozole;Letrozole;Exemestane
22 Polycystic Ovary Syndrome (PCOS) and Sleep Apnea Terminated NCT00203996 Phase 4 depot leuprolide plus estrogen/progestin replacement;pioglitazone
23 IVF Versus LOD in Women With CC Resistant PCOS Withdrawn NCT02456792 Phase 4
24 IVF Versus Gonadotropin Therapy in Women With CC Resistant PCOS Withdrawn NCT02458963 Phase 4 Gonadotropin
25 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). Unknown status NCT01907009 Phase 2, Phase 3 Melphalan;Lenograstim
26 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 anastrozole;exemestane;fulvestrant;lapatinib ditosylate;letrozole
27 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
28 Prevention of Obesity in Women Via Estradiol Regulation Completed NCT00687739 Phase 3 leuprolide acetate;Estradiol Transdermal
29 Letrozole or Tamoxifen Citrate in Treating Older Postmenopausal Women Undergoing Surgery for Breast Cancer Completed NCT00949598 Phase 3 letrozole;tamoxifen citrate
30 Effects of Genistein in Postmenopausal Women With Metabolic Syndrome Completed NCT01664650 Phase 2, Phase 3
31 NAC in CC Resistant PCOS After LOD Completed NCT02775734 Phase 2, Phase 3 N-acetyl-cysteine;Clomiphene citrate
32 Chemotherapy vs Hormonal Treatment in Platinum-resistant Ovarian Cancer Resistant or Refractory to Platinum and Taxane Completed NCT02728622 Phase 3 Tamoxifen;Chemotherapy
33 Comparison Between Letrozole and Urinary Purified FSH in Women With Clomiphene Citrate Resistant Polycystic Ovarian Syndrome. Completed NCT02304107 Phase 3 FSH;Letrozole
34 Extended Clomiphene Citrate Regimen in Women With Polycystic Ovary Syndrome Completed NCT02381184 Phase 2, Phase 3 clomiphene citrate
35 Thermosensitive Gels for the Vaginal Delivery of Sildenafil Citrate Completed NCT02766725 Phase 2, Phase 3 preparation F12 sildenafil in situ gel;preparation F2 sildenafil in situ gel;placebo gel
36 Testosterone and Its Metabolites in GID Completed NCT00146146 Phase 3 testosterone undecanoate alone;testosterone undecanoate plus letrozole;testosterone undecanoate plus dutasteride
37 Effect of Genistein in Women With Metabolic Syndrome Completed NCT00541710 Phase 2, Phase 3
38 Fulvestrant and/or Anastrozole in Treating Postmenopausal Patients With Stage II-III Breast Cancer Undergoing Surgery Recruiting NCT01953588 Phase 3 fulvestrant;anastrozole
39 Evaluation of Oral Care to Prevent Oral Mucositis in ER Positive MBC Patients Treated With Everolimus: Phase 3 RCT Recruiting NCT02376985 Phase 3 Everolimus
40 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 Palbociclib;Capecitabine;Exemestane;Fulvestrant
41 Comparison Between Letrozole and Laparoscopic Ovarian Drilling in Women With Clomiphene Resistant Polycystic Ovarian Syndrome (PCOS) Recruiting NCT02305693 Phase 3 Letrozole
42 Comparison Between Laparoscopic Ovarian Diathermy and Urinary Purified FSH in Women With Clomiphene Citrate Resistant Polycystic Ovarian Syndrome. Recruiting NCT02304536 Phase 3 FSH
43 Letrozole in Clomiphene Resistant Infertile Women With Polycystic Ovarian Syndrome Recruiting NCT03135301 Phase 3 letrozole plus metformin;letrozole
44 Overcoming Endocrine Resistance in Metastatic Breast Cancer Recruiting NCT02394496 Phase 3 Fulvestrant;Lapatinib;Aromatase Inhibitors;Placebo Lapatinib
45 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 Ribociclib;letrozole
46 Letrozole Versus Laparoscopic Ovarian Drilling in Polycystic Ovary Syndrome Recruiting NCT03009838 Phase 3 Letrozole
47 Duration of Androgen Blockade Combined With Pelvic Irradiation in Prostate Cancers Active, not recruiting NCT00223171 Phase 3 Androgen blockade + radiation therapy
48 Interest of Myo-inositol Supplementation in Women With Polycystic Ovarian Syndrome Not yet recruiting NCT03059173 Phase 3 Clomiphene Citrate
49 Endobarrier Treatment in Women With PCOS Not yet recruiting NCT02255578 Phase 3 clomiphene citrate treatment
50 Study of Lanreotide in Non Metastatic Castration-resistant Prostate Cancer Patients Terminated NCT01313273 Phase 3 Lanreotide, non steroidal anti androgens and LHRH-a;Non steroidal anti androgens and LHRH-a

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
Breast, Ovary, Bone, Prostate, Endothelial, Skeletal Muscle, Uterus

Publications for Estrogen Resistance

Articles related to Estrogen Resistance:

(show all 29)
id Title Authors Year
1
A new class of small molecule estrogen receptor-alpha antagonists that overcome anti-estrogen resistance. ( 26575173 )
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
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
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
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
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
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
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
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
14
Breast cancer anti-estrogen resistance protein 1 (BCAR1/p130cas) in pulmonary disease tissue and serum. ( 21469768 )
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:

71
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
5 ESR1 NM_000125.3(ESR1): c.1181G> A (p.Arg394His) single nucleotide variant Likely pathogenic rs1131692059 GRCh37 Chromosome 6, 152332875: 152332875

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 11.31 BCAR1 BCAR3
2 10.37 BCAR1 ESR1
3 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
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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