MCID: EST007
MIFTS: 40

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 53 71 28 13 69
Estrogen Insensitivity 53 71
Estrr 53 71
Estrogen Resistance Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
estrogen resistance syndrome
Inheritance: Autosomal recessive;

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

31
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 estrogen-receptor positive 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. Affiliated tissues include bone, ovary and uterus.

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

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:

53
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:

55 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteopenia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000938
2 osteoporosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000939
3 acanthosis nigricans 55 31 frequent (33%) Frequent (79-30%) HP:0000956
4 acne 55 31 frequent (33%) Frequent (79-30%) HP:0001061
5 increased circulating gonadotropin level 55 31 hallmark (90%) Very frequent (99-80%) HP:0000837
6 primary amenorrhea 55 31 hallmark (90%) Very frequent (99-80%) HP:0000786
7 glucose intolerance 55 31 frequent (33%) Frequent (79-30%) HP:0000833
8 hyperinsulinemia 55 31 frequent (33%) Frequent (79-30%) HP:0000842
9 absence of secondary sex characteristics 55 31 hallmark (90%) Very frequent (99-80%) HP:0008187
10 episodic abdominal pain 55 31 frequent (33%) Frequent (79-30%) HP:0002574
11 enlarged polycystic ovaries 55 31 hallmark (90%) Very frequent (99-80%) HP:0008675
12 hypoplasia of the uterus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000013
13 overgrowth 55 31 hallmark (90%) Very frequent (99-80%) HP:0001548
14 breast hypoplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0003187
15 marked delay in bone age 55 31 hallmark (90%) Very frequent (99-80%) HP:0003799
16 delayed epiphyseal ossification 55 31 hallmark (90%) Very frequent (99-80%) HP:0002663
17 absence of pubertal development 55 31 hallmark (90%) Very frequent (99-80%) HP:0008197
18 elevated tissue non-specific alkaline phosphatase 55 31 frequent (33%) Frequent (79-30%) HP:0010679
19 delayed skeletal maturation 31 HP:0002750
20 tall stature 55 Very frequent (99-80%)
21 abnormality of the adrenal glands 55 Excluded (0%)
22 coronary atherosclerosis 55 Frequent (79-30%)
23 abnormality of circulating hormone level 55 Very frequent (99-80%)
24 abnormal testosterone level 55 Excluded (0%)
25 abnormality of the pubic hair 55 Excluded (0%)
26 coronary artery atherosclerosis 31 frequent (33%) HP:0001677

Drugs & Therapeutics for Estrogen Resistance

Search Clinical Trials , NIH Clinical Center for Estrogen Resistance

Genetic Tests for Estrogen Resistance

Genetic tests related to Estrogen Resistance:

# Genetic test Affiliating Genes
1 Estrogen Resistance 28 ESR1

Anatomical Context for Estrogen Resistance

MalaCards organs/tissues related to Estrogen Resistance:

38
Bone, Ovary, Uterus, Adrenal Gland, Breast, Endothelial, B Cells

Publications for Estrogen Resistance

Articles related to Estrogen Resistance:

(show all 30)
# Title Authors Year
1
TGF-I^ Stimulation of EMT Programs Elicits Non-genomic ER-I+ Activity and Anti-estrogen Resistance in Breast Cancer Cells. ( 28955730 )
2017
2
A new class of small molecule estrogen receptor-alpha antagonists that overcome anti-estrogen resistance. ( 26575173 )
2015
3
Breast Cancer Anti-Estrogen Resistance 4 (BCAR4) Drives Proliferation of IPH-926 lobular Carcinoma Cells. ( 26317614 )
2015
4
Anti-estrogen Resistance in Human Breast Tumors Is Driven by JAG1-NOTCH4-Dependent Cancer Stem Cell Activity. ( 26387946 )
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
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
7
Breast cancer anti-estrogen resistance 3 inhibits transforming growth factor I^/Smad signaling and associates with favorable breast cancer disease outcomes. ( 25499443 )
2014
8
Reproductive endocrinology: ESR1 mutation causes estrogen resistance and puberty delay in women. ( 23897169 )
2013
9
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
10
Delayed puberty and estrogen resistance in a woman with estrogen receptor alpha variant. ( 23841731 )
2013
11
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
12
Paradoxical roles for FOXA1 in anti-estrogen resistance and as a luminal differentiation factor in breast cancer. ( 25083421 )
2012
13
Breast cancer anti-estrogen resistance 3 (BCAR3) protein augments binding of the c-Src SH3 domain to Crk-associated substrate (p130cas). ( 22711540 )
2012
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
Breast cancer anti-estrogen resistance protein 1 (BCAR1/p130cas) in pulmonary disease tissue and serum. ( 21469768 )
2011
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
Selective recruitment of breast cancer anti-estrogen resistance genes and relevance for breast cancer progression and tamoxifen therapy response. ( 19966015 )
2010
19
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
20
AND-34 activates phosphatidylinositol 3-kinase and induces anti-estrogen resistance in a SH2 and GDP exchange factor-like domain-dependent manner. ( 15671247 )
2005
21
Creation of estrogen resistance in vivo by transgenic overexpression of the heterogeneous nuclear ribonucleoprotein-related estrogen response element binding protein. ( 15976060 )
2005
22
[Estrogen resistance and aromatase deficiency in humans]. ( 12462077 )
2002
23
Phosphatidylinositol 3-kinase/AKT-mediated activation of estrogen receptor alpha: a new model for anti-estrogen resistance. ( 11139588 )
2001
24
Increased expression of cytochrome p450 1A1 and 1B1 genes in anti-estrogen-resistant human breast cancer cell lines. ( 11093812 )
2000
25
Aromatase deficiency and estrogen resistance: from molecular genetics to clinic. ( 11305285 )
2000
26
BCAR1, a human homologue of the adapter protein p130Cas, induces anti-estrogen resistance in breast cancer cells. ( 10639512 )
2000
27
Reversal of estrogen-resistance in murine mammary adenocarcinomas. ( 10424399 )
1999
28
Identification of a novel breast-cancer-anti-estrogen-resistance (BCAR2) locus by cell-fusion-mediated gene transfer in human breast-cancer cells. ( 9259413 )
1997
29
Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man. ( 8090165 )
1994
30
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
# 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
# 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:

# 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:

# 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
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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