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ORPHA:785

Estrogen resistance syndrome

low confidenceDisorder

Publications

31,967

Trials

0

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Strong — ESR1

  2. LiteraturePresent

    31,967 matched papers (23,721 in last 10 years) Source

  3. Phenotype characterisedPresent

    39 HPO annotations (e.g. Hypoplasia of the uterus; Tall stature; Primary amenorrhea) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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)

39

Associated phenotypes · MONDO:0014148

  • Hypoplasia of the uterus
  • Tall stature
  • Primary amenorrhea
  • Increased circulating gonadotropin level
  • Osteopenia

Showing 5 of 39 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

31,967

31,967 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

31,967 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

23,721 in the last 10 years · low confidence

Phrase hits: 7 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

55

Distinct author names in 7 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Adam N1 paper · 2024

    Sorbonne Université, CNRS UMR8246, INSERM U1130, Neuroscience Paris Seine - Institut de Biologie Paris Seine, Paris, France.

    Papers in Europe PMC
  2. 02
    Belfort-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
  3. 03
    Caceres O1 paper · 2025

    Laboratório de Innovación y Desarrollo, Instituto Nacional de Salud, Lima, Peru.

    Papers in Europe PMC
  4. 04
    Cai M1 paper · 2024

    BGI Research, Shenzhen 518083, China.

    Papers in Europe PMC
  5. 05
    Cai 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
  6. 06
    Cao 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
  7. 07
    Cheng 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
  8. 08
    Faria-Costa L1 paper · 2025

    Genetics, Ecology and Evolution Department, Biological Sciences Institute, Federal University of Minas Gerais, Belo Horizonte, Brazil.

    Papers in Europe PMC
  9. 09
    Feigerlova 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
  10. 10
    Fortuño 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?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (3)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Estrogen resistance syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR ("ESR1" OR "ESR1 syndrome" OR "ESR1-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Estrogen resistance syndrome"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

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
  • Publication count (31967) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T15:21:29.913Z