ORPHA:785
Estrogen resistance syndrome
Publications
7
21.7th percentile
Trials
14
Interventional, condition-specific
Researchers
55
Distinct authors in sample
Gene link
ESR1
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
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.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0014148
- OMIM:615363
- UMLS:C3809250
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Strong — ESR1
- LiteraturePresent
7 matched papers (6 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
14 matched on ClinicalTrials.gov (5 recruiting in sample)
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (ESR1).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
7
7 papers have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
7 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
6 in the last 10 years · high confidence · 21.7th percentile (publications denominator)
Phrase hits: 7 · MeSH hits: 0
Who's working on it?
55
Distinct author names in 7 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Adam N1 paper · 2024
Sorbonne Université, CNRS UMR8246, INSERM U1130, Neuroscience Paris Seine - Institut de Biologie Paris Seine, Paris, France.
Papers in Europe PMC - 02Belfort-Almeida G1 paper · 2025
Pathology, Genetics and Evolution Department, Biological and Natural Sciences Institute, Federal University of Triângulo Mineiro, Uberaba, Brazil.
Papers in Europe PMC - 03Caceres O1 paper · 2025
Laboratório de Innovación y Desarrollo, Instituto Nacional de Salud, Lima, Peru.
Papers in Europe PMC - 04
- 05Cai X1 paper · 2024
Institute of Maternal and Child Health, Wuhan Children's Hospital (Wuhan Maternal and Child Health Care Hospital), Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430010, China.
Papers in Europe PMC - 06Cao Z1 paper · 2024
Institute of Maternal and Child Health, Wuhan Children's Hospital (Wuhan Maternal and Child Health Care Hospital), Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430010, China.
Papers in Europe PMC - 07Cheng Y1 paper · 2022
College of Life Science, Engineering Research Center of the Chinese Ministry of Education for Bioreactor and Pharmaceutical Development, Jilin Agricultural University, Changchun 130118, China.
Papers in Europe PMC - 08Faria-Costa L1 paper · 2025
Genetics, Ecology and Evolution Department, Biological Sciences Institute, Federal University of Minas Gerais, Belo Horizonte, Brazil.
Papers in Europe PMC - 09Feigerlova E1 paper · 2025
Centre de référence des maladies héréditaires du métabolisme, Hôpital d'enfants, Centre Hospitalier universitaire of Nancy and Faculty of Medicine, Midwifery and Health Professions, Université de Lorraine, F- 54000 Nancy, France; Centre Universitaire d'Enseignement par Simulation - CUESim, Virtual Hospital of Lorraine, Faculty of Medicine, Midwifery and Health Professions, Université de Lorraine, Nancy F- 54000, France; Centre de référence des maladies héréditaires du métabolisme, Hôpital d'enfants, rue Morvan, CHRU de Nancy, F- 54000 Nancy, France; Université de Lorraine, Inserm, DCAC, Nancy, France. Electronic address: eva.feigerlova@fulbrightmail.org.
Papers in Europe PMC - 10Fortuño C1 paper · 2014
Department of Human Reproduction, Instituto Valenciano de Infertilidad (IVI), Plaza de la Policía local 3, 46015, Valencia, Spain.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
14
interventional trials for this specific condition
14 interventional trials matched this specific condition name; 5 currently recruiting in our sample.
Data as of 27 July 2026
14 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 93.1th percentile).
high confidence · 93.1th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
14 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT06382948·RECRUITING·Elacestrant + Everolimus in Patients ER+/HER2-, ESR1mut, Advanced Breast Cancer Progressing to ET and CDK4/6i.
Conditions: Advanced Breast Cancer · ER-positive Breast Cancer · HER2-negative Breast Cancer · ESR1 Gene Mutation·Matched via name phrase
- NCT07222215·RECRUITING·PhII Randomized CAPecitabine + ELAcestrant vs. Capecitabine Alone in ER+ Breast Cancer (CAPELA)
Conditions: Estrogen-receptor-positive Breast Cancer · Metastatic Breast Cancer · Breast Cancer · Hormone Receptor Positive Breast Cancer·Matched via name phrase
- NCT04174352·RECRUITING·FES Imaging to Optimize Tamoxifen for Metastatic Breast Cancer
Conditions: ERα+ Breast Cancer · ESR1 Gene Mutation·Matched via name phrase
- NCT06691035·RECRUITING·Immunologic Targeting of ESR1 Receptor for Hormone Receptor Expressing Metastatic Breast Cancer
Conditions: Breast Cancer Metastatic Breast Cancer · HER2-negative Breast Cancer·Matched via name phrase
- NCT05696626·RECRUITING·Evaluation of Lasofoxifene Combined With Abemaciclib Compared With Fulvestrant Combined With Abemaciclib in Locally Advanced or Metastatic ER+/HER2- Breast Cancer With an ESR1 Mutation
Conditions: Metastatic Breast Cancer·Matched via name phrase
Observational and natural-history studies
5 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT06544577·RECRUITING·Safety of Elacestrant in ER+/HER2- and ESR1 Mutations MBC
Conditions: ESR1 Gene Mutation · Advanced Breast Cancer · Safety·Matched via name phrase
- NCT06548919·RECRUITING·Current Status of Treatment for Chinese Patients With ESR1-mutated HR+/HER2-advanced Breast Cancer
Conditions: ESR1 Gene Mutation · Advanced Breast Cancer·Matched via name phrase
- NCT07563595·RECRUITING·Elacestrant in Patients With ER+ HER2- ESR1-mutated Locally Advanced or Metastatic Breast Cancer
Conditions: Breast Cancer·Matched via name phrase
- NCT06417801·RECRUITING·Minimally Interventional Study on Prevalence of Emerging ESR1 Mutations in Liquid Biopsy in Three Cohorts of Patients With Breast Cancer in Comparison With Patient's Baseline ESR1 Mutation Status as Defined by Tissue Profiling.
Conditions: Metastatic Breast Cancer·Matched via name phrase
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Estrogen resistance syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Estrogen resistance syndrome" OR "ESR1"
Recall-expansion terms: ESR1
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 14 interventional · 5 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T15:21:29.913Z