ORPHA:2576
Mulibrey nanism
Also known as: MUL · Mulibrey growth disorder · Muscle-liver-brain-eye nanism
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
259
71.9th percentile
Trials
0
Interventional, condition-specific
Researchers
1,139
Distinct authors in sample
Gene link
TRIM37
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare developmental defect during embryogenesis characterized by growth delay and multiorgan manifestations.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009664
- MeSH:D050336
- OMIM:253250
- UMLS:C0524582
- NCIT:C84906
Additional Mondo synonyms (6)
Perheentupa syndrome · mulibrey dwarfism · mulibrey nanism · muscle-liver-brain-eye nanism · pericardial constriction and growth failure · pericardial constriction-growth failure 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.”
2/6 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.
- Gene identifiedPresent
Definitive — TRIM37
- LiteraturePresent
259 matched papers (136 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 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 (TRIM37).
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?
259
259 papers have ever been published on this condition (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.
259 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).
136 in the last 10 years · medium confidence · 71.9th percentile (publications denominator)
Phrase hits: 259 · MeSH hits: 0
Who's working on it?
1,139
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.
- 01Lipsanen-Nyman M28 papers · 2026
Hospital for Children and Adolescents, Helsinki University Central Hospital, 00029 HUS, Finland.
Papers in Europe PMC - 02Lehesjoki AE15 papers · 2016
Folkhälsan Institute of Genetics and Department of Medical Genetics, Biomedicum Helsinki, Haartmaninkatu 8, 00014 University of Helsinki, Helsinki, Finland.
Papers in Europe PMC - 03Karlberg S12 papers · 2026
Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Biomedicum Helsinki, Helsinki, Finland.
Papers in Europe PMC - 04Jalanko H10 papers · 2022
Department of Nephrology and Transplantation, Children's Hospital, University of Helsinki and Helsinki University Hospital, FI-00290 Helsinki, Finland.
Papers in Europe PMC - 05Kallijärvi J10 papers · 2022
Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, Biomedicum Helsinki, 00014 University of Helsinki, Finland. jukka.kallijarvi@helsinki.fi
Papers in Europe PMC - 06Karlberg N10 papers · 2022
Hospital for Children and Adolescents, Biomedicum Helsinki, University of Helsinki, 00029 HUS, Finland.
Papers in Europe PMC - 07Hämäläinen RH7 papers · 2016
The Folkhälsan Institute of Genetics and Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.
Papers in Europe PMC - 08Mäkitie O7 papers · 2026
Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Papers in Europe PMC - 09Perheentupa J6 papers · 2004Papers in Europe PMC
- 10Avela K5 papers · 2004
Department of Medical Genetics, University of Helsinki, Folkhälsan Institute of Genetics, Finland.
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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th 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.
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.
"Mulibrey nanism" OR "Mulibrey growth disorder" OR "Muscle-liver-brain-eye nanism" OR "Perheentupa syndrome" OR "mulibrey dwarfism" OR "pericardial constriction and growth failure" OR "pericardial constriction-growth failure syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Mulibrey nanism" OR "Mulibrey growth disorder" OR "Muscle-liver-brain-eye nanism" OR "Perheentupa syndrome" OR "mulibrey dwarfism" OR "pericardial constriction and growth failure" OR "pericardial constriction-growth failure syndrome" OR "TRIM37"
Recall-expansion terms: TRIM37
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: MUL
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T20:35:10.603Z