RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:494433

MIRAGE syndrome

low confidenceDisorder

Also known as: Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome · Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome

Publications

6,164

Trials

0

Interventional, condition-specific

Researchers

1,093

Distinct authors in sample

Gene link

SAMD9

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic disease characterized by pre- and postnatal growth restriction, , adrenal hypoplasia, genital abnormalities (such as microphallus, hypospadias, or cryptorchidism), thrombocytopenia and/or anemia, recurrent severe invasive infections, and enteropathy with chronic diarrhea. Myelodysplastic syndrome and features (including downslanting palpebral fissures, low-set and posteriorly rotated ears, anteverted nares, camptodactyly, and arachnodactyly, among others) may also be observed.

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.

Additional Mondo synonyms (6)

MIRAGE · mirage · mirage syndrome · myelodysplasia, infection, restriction of Growth, adrenal Hypoplasia, genital phenotypes, and enteropathy · myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome · myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome

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

    Definitive — SAMD9

  2. LiteraturePresent

    6,164 matched papers (3,826 in last 10 years) Source

  3. Phenotype characterisedPresent

    41 HPO annotations (e.g. Scoliosis; Patent ductus arteriosus; Recurrent urinary tract infections) 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 (SAMD9).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

41

Associated phenotypes · MONDO:0014888

  • Scoliosis
  • Patent ductus arteriosus
  • Recurrent urinary tract infections
  • Talipes equinovarus
  • Decreased total leukocyte count

Showing 5 of 41 — 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?

6,164

6,164 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.

6,164 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).

3,826 in the last 10 years · low confidence

Phrase hits: 5,017 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,093

Distinct author names in 200 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
    Narumi S19 papers · 2026

    Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan; and.

    Papers in Europe PMC
  2. 02
    Dasanu CA7 papers · 2026

    Department of Oncology and Hematology, Lucy Curci Cancer Center, Eisenhower Health, Rancho Mirage, USA.

    Papers in Europe PMC
  3. 03
    Samperio VM7 papers · 2026

    Department of Medicine, Eisenhower Medical Center, Rancho Mirage, USA.

    Papers in Europe PMC
  4. 04
    Tanase-Nakao K7 papers · 2026

    Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

    Papers in Europe PMC
  5. 05
    Achermann JC6 papers · 2024

    Genetics & Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, UK.

    Papers in Europe PMC
  6. 06
    Buonocore F6 papers · 2024

    Genetics & Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, UK.

    Papers in Europe PMC
  7. 07
    Shima H5 papers · 2019

    Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan; and.

    Papers in Europe PMC
  8. 08
    Hamoud M4 papers · 2026

    Department of Medicine, Eisenhower Health, Rancho Mirage, CA, USA.

    Papers in Europe PMC
  9. 09
    Wood SH4 papers · 2024

    Department of Obstetrics and Gynecology, Palomar Medical Center, Escondido, CA, USA.

    Papers in Europe PMC
  10. 10
    Fukami M3 papers · 2018

    Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

    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 5 · after dedupe 5 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 5 · dropped 0 · fetched 2026-07-30

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 (5)

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 MIRAGE 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.

("MIRAGE syndrome" OR "Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome" OR "Myelodysplasia-infection-restriction of the growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome" OR "Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome" OR "Myelodysplasia-infection-restriction of the growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome" OR "MIRAGE" OR "myelodysplasia, infection, restriction of Growth, adrenal Hypoplasia, genital phenotypes, and enteropathy" OR "myelodysplasia, infection, restriction of the Growth, adrenal Hypoplasia, genital phenotypes, and enteropathy") OR ("SAMD9" OR "SAMD9 syndrome" OR "SAMD9-related" OR "MIRAGE-related")

Run this search on Europe PMC

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

"MIRAGE syndrome" OR "Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome" OR "Myelodysplasia-infection-restriction of the growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome" OR "Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome" OR "Myelodysplasia-infection-restriction of the growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome" OR "MIRAGE" OR "myelodysplasia, infection, restriction of Growth, adrenal Hypoplasia, genital phenotypes, and enteropathy" OR "myelodysplasia, infection, restriction of the Growth, adrenal Hypoplasia, genital phenotypes, and enteropathy"

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 short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (6164) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T17:30:48.183Z