Details of Disease

General Information of Disease (ID: DIS2SYXC)

Disease Name Estrogen resistance syndrome
Synonyms oestrogen resistance; estrogen resistance; ESTRR; estrogen insensitivity; oestrogen insensitivity
Definition
Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present.
Disease Hierarchy
DISRGY2N: Endocrine disease
DIS6SVEE: Syndromic disease
DISYKSRF: Genetic disease
DIS7W23Z: Reproductive system disorder
DIS2SYXC: Estrogen resistance syndrome
Disease Identifiers
MONDO ID
MONDO_0014148
UMLS CUI
C3809250
OMIM ID
615363
MedGen ID
815580
Orphanet ID
785

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ESR1 TTZAYWL Limited Genetic Variation [1]
RTN4 TT7GXMU Disputed Biomarker [2]
SLC39A6 TTZN1CF Disputed Altered Expression [3]
ESR1 TTAHMI6 Supportive Autosomal recessive [4]
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This Disease Is Related to 6 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RTN1 OTCX1SMK Disputed Biomarker [2]
SHOX OTE0YZJO Disputed Biomarker [5]
SPECC1 OTPEML48 Disputed Biomarker [2]
ESR1 OTKLU61J Supportive Autosomal recessive [4]
BCAR1 OTKT2C2N moderate Biomarker [6]
BCAR3 OTPJ17M8 Strong Biomarker [7]
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⏷ Show the Full List of 6 DOT(s)

References

1 Early-Onset Complete Ovarian Failure and Lack of Puberty in a Woman With Mutated Estrogen Receptor (ESR2).J Clin Endocrinol Metab. 2018 Oct 1;103(10):3748-3756. doi: 10.1210/jc.2018-00769.
2 AND-34/BCAR3 differs from other NSP homologs in induction of anti-estrogen resistance, cyclin D1 promoter activation and altered breast cancer cell morphology.J Cell Physiol. 2007 Sep;212(3):655-65. doi: 10.1002/jcp.21059.
3 Zip6-attenuation promotes epithelial-to-mesenchymal transition in ductal breast tumor (T47D) cells.Exp Cell Res. 2010 Feb 1;316(3):366-75. doi: 10.1016/j.yexcr.2009.10.011. Epub 2009 Oct 21.
4 Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man. N Engl J Med. 1994 Oct 20;331(16):1056-61. doi: 10.1056/NEJM199410203311604.
5 Short stature homeobox-containing gene duplication on the der(X) chromosome in a female with 45,X/46,X, der(X), gonadal dysgenesis, and tall stature.J Clin Endocrinol Metab. 2000 Aug;85(8):2927-30. doi: 10.1210/jcem.85.8.6745.
6 The substrate domain of BCAR1 is essential for anti-estrogen-resistant proliferation of human breast cancer cells.Breast Cancer Res Treat. 2010 Apr;120(2):401-8. doi: 10.1007/s10549-009-0403-4. Epub 2009 May 3.
7 MicroRNA-126-5p downregulates BCAR3 expression to promote cell migration and invasion in endometriosis.Mol Cell Endocrinol. 2019 Aug 20;494:110486. doi: 10.1016/j.mce.2019.110486. Epub 2019 Jun 21.