ORPHA:53693
GRACILE syndrome
Also known as: Fellman disease · Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
153
65.5th percentile
Trials
0
Interventional, condition-specific
Researchers
896
Distinct authors in sample
Gene link
BCS1L
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
An inherited lethal disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E).
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0011308
- MeSH:C537934
- OMIM:603358
- UMLS:C1864002
Additional Mondo synonyms (1)
gracile 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 — BCS1L
- LiteraturePresent
153 matched papers (95 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 (BCS1L).
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?
153
153 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.
153 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).
95 in the last 10 years · medium confidence · 65.5th percentile (publications denominator)
Phrase hits: 153 · MeSH hits: 0
Who's working on it?
896
Distinct author names in 153 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.
- 01Fellman V24 papers · 2026
Pediatrics, Department of Clinical Sciences, Lund, Lund University, Lund, Sweden.
Papers in Europe PMC - 02
- 03Zeviani M10 papers · 2025
Mitochondrial Biology Unit, The MRC and University of Cambridge, Cambridge CB2 0XY, UK.
Papers in Europe PMC - 04Kotarsky H9 papers · 2020
Pediatrics, Department of Clinical Sciences, Lund, Lund University, Lund, Sweden.
Papers in Europe PMC - 05Purhonen J7 papers · 2026
Folkhälsan Research Center, Haartmaninkatu 8, 00290, Helsinki, Finland.
Papers in Europe PMC - 06Costa R5 papers · 2022
Department of Biology, University of Padova, Padova, Italy.
Papers in Europe PMC - 07Mörgelin M5 papers · 2023
Division of Infection Medicine, Department of Clinical Sciences, Lund University, P.O.Box 117, 221 00, Lund, Sweden.
Papers in Europe PMC - 08Brischigliaro M4 papers · 2023
Department of Biology, University of Padova, Padova, Italy.
Papers in Europe PMC - 09Dallabona C4 papers · 2025
Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parco Area delle Scienze 11/A, 43124 Parma, Italy.
Papers in Europe PMC - 10Ghezzi D4 papers · 2021
Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
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.
"GRACILE syndrome" OR "Fellman disease" OR "Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome"
MeSH descriptor terms unioned into the query: Finnish lethal neonatal metabolic syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"GRACILE syndrome" OR "Fellman disease" OR "Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome" OR "Finnish lethal neonatal metabolic syndrome" OR "BCS1L"
Recall-expansion terms: BCS1L
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; 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
Ingested 2026-07-27T00:53:26.784Z