ORPHA:24
Fumaric aciduria
Also known as: Fumarase deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
230
71th percentile
Trials
0
Interventional, condition-specific
Researchers
1,278
Distinct authors in sample
Gene link
FH
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Fumaric aciduria (FA), an disorder, is most often characterized by early onset but non-specific clinical signs: , severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment.
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:0011730
- MeSH:C538191
- OMIM:606812
- UMLS:C0342770
Additional Mondo synonyms (2)
fumarase deficiency · fumaric aciduria
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 — FH
- LiteraturePresent
230 matched papers (130 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 (FH).
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?
230
230 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.
230 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).
130 in the last 10 years · medium confidence · 71th percentile (publications denominator)
Phrase hits: 230 · MeSH hits: 0
Who's working on it?
1,278
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.
- 01Rustin P7 papers · 2022
NeuroDiderot, Inserm, Université Paris Cité, F-75019 Paris, France.
Papers in Europe PMC - 02Frezza C6 papers · 2020
MRC Cancer Unit, University of Cambridge, Hutchison/MRC Research Centre, Box 197, Cambridge Biomedical Campus, Cambridge CB2 0XZ, UK.
Papers in Europe PMC - 03Bénit P4 papers · 2022
NeuroDiderot, Inserm, Université Paris Cité, F-75019 Paris, France.
Papers in Europe PMC - 04
- 05Shuch B4 papers · 2023
Department of Urology and Radiology and Biomedical Imaging, Yale School of Medicine, New Haven, Connecticut.
Papers in Europe PMC - 06Wilde BR4 papers · 2026
Department of Biological Chemistry, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA; Jonsson Comprehensive Cancer Center, UCLA, Los Angeles, CA 90095, USA.
Papers in Europe PMC - 07Aaltonen LA3 papers · 2017
Department of Medical and Clinical Genetics and Genome-Scale Biology Research Program, University of Helsinki, P.O. Box 63, Helsinki FIN-00014, Finland.
Papers in Europe PMC - 08Chalmers RA3 papers · 1998Papers in Europe PMC
- 09
- 10Favier J3 papers · 2022
Paris Centre de Recherche Cardiovasculaire (PARCC), Inserm, Université Paris Cité, F-75015 Paris, France.
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.
"Fumaric aciduria" OR "Fumarase deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Fumaric aciduria" OR "Fumarase deficiency" OR "FH"
Recall-expansion terms: FH
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
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 (230) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-26T12:07:57.962Z