ORPHA:494433
MIRAGE syndrome
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
5,017
Trials
1
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0014888
- OMIM:617053
- UMLS:C4284088
- NCIT:C147530
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — SAMD9
- LiteraturePresent
5,017 matched papers (2,863 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
1 matched on ClinicalTrials.gov
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)
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?
5,017
5,017 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=5449) is 41.
5,017 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).
2,863 in the last 10 years · low confidence
Phrase hits: 5,017 · MeSH hits: 0
Who's working on it?
1,093
Distinct author names in 200 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.
- 01Narumi S19 papers · 2026
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan; and.
Papers in Europe PMC - 02Dasanu CA7 papers · 2026
Department of Oncology and Hematology, Lucy Curci Cancer Center, Eisenhower Health, Rancho Mirage, USA.
Papers in Europe PMC - 03Samperio VM7 papers · 2026
Department of Medicine, Eisenhower Medical Center, Rancho Mirage, USA.
Papers in Europe PMC - 04Tanase-Nakao K7 papers · 2026
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Papers in Europe PMC - 05Achermann JC6 papers · 2024
Genetics & Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, UK.
Papers in Europe PMC - 06Buonocore F6 papers · 2024
Genetics & Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, UK.
Papers in Europe PMC - 07Shima H5 papers · 2019
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan; and.
Papers in Europe PMC - 08Hamoud M4 papers · 2026
Department of Medicine, Eisenhower Health, Rancho Mirage, CA, USA.
Papers in Europe PMC - 09Wood SH4 papers · 2024
Department of Obstetrics and Gynecology, Palomar Medical Center, Escondido, CA, USA.
Papers in Europe PMC - 10Fukami 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?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
low confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
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.
"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"
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" OR "SAMD9"
Recall-expansion terms: SAMD9
Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 0 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 short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (5017) 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