ORPHA:438178
Fatty acyl-CoA reductase 1 deficiency
Also known as: FAR1 deficiency · PFCRD · Peroxisomal fatty acyl-CoA reductase 1 disorder
Query health: suspect — Source fetch failed for trials.
Publications
3,201
Trials
—
Interventional, condition-specific
Researchers
324
Distinct authors in sample
Gene link
FAR1
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare disorder of plasmalogen biosynthesis characterized by syndromic severe with cataracts, early-onset , microcephaly, global , growth retardation and short stature, and spastic quadriparesis. facial features may be present, including high-arched eyebrows, flattened nasal root, hypertelorism, and long and smooth philtrum. Rhizomelia is not part of the syndrome. Cerebellar atrophy, white matter abnormalities, and Dandy-Walker have been described on brain imaging.
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:0014510
- OMIM:616154
- UMLS:C4015344
Additional Mondo synonyms (7)
fatty acyl-CoA reductase 1 deficiency · fatty acyl-CoA reductase 1 disorder · fatty acyl-CoA reductase 1 disorder or fatty acyl-CoA reductase 1 deficiency · rhizomelic chondrodysplasia punctata type 4 · severe intellectual disability-epilepsy-cataract syndrome due to FAR1 deficiency · severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency · severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder
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
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedPresent
Definitive — FAR1
- LiteraturePresent
3,201 matched papers (2,141 in last 10 years) Source
- Phenotype characterisedPresent
43 HPO annotations (e.g. Progressive microcephaly; Seizure; Global developmental delay) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialNot checked
Trial fetch failed or incomplete
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 (FAR1).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
43
Associated phenotypes · MONDO:0014510
- Progressive microcephaly
- Seizure
- Global developmental delay
- Spastic tetraparesis
- Abnormal facial shape
Showing 5 of 43 — 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?
3,201
3,201 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
3,201 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).
2,141 in the last 10 years · low confidence
Phrase hits: 38 · MeSH hits: 0
Who's working on it?
324
Distinct author names in 38 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.
- 01Ferdinandusse S4 papers · 2025
Laboratory Genetic Metabolic Diseases, Laboratory Division, Departments of Paediatrics and Clinical Chemistry, Academic Medical Center, Emma Children's Hospital, University of Amsterdam Amsterdam, Netherlands.
Papers in Europe PMC - 02Waterham HR4 papers · 2023
Laboratory Genetic Metabolic Diseases, Laboratory Division, Departments of Paediatrics and Clinical Chemistry, Academic Medical Center, Emma Children's Hospital, University of Amsterdam Amsterdam, Netherlands.
Papers in Europe PMC - 03
- 04Vaz FM3 papers · 2025
Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.
Papers in Europe PMC - 05Berger J2 papers · 2022
Department of Pathobiology of the Nervous System, Center for Brain Research, Medical University of Vienna, Spitalgasse 4, 1090 Vienna, Austria. Electronic address: johannes.berger@meduniwien.ac.at.
Papers in Europe PMC - 06Braverman NE2 papers · 2023
Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada. Electronic address: nancy.braverman@mcgill.ca.
Papers in Europe PMC - 07Dorninger F2 papers · 2022
Department of Pathobiology of the Nervous System, Center for Brain Research, Medical University of Vienna, Spitalgasse 4, 1090 Vienna, Austria. Electronic address: fabian.dorninger@meduniwien.ac.at.
Papers in Europe PMC - 08Li H2 papers · 2023
BGI-Anhui Clinical Laboratory, BGI-Shenzhen, 236000, Fuyang, China.
Papers in Europe PMC - 09Li Y2 papers · 2024
School of Mathematics and Statistics, Wuhan University, Wuhan, P. R. China.
Papers in Europe PMC - 10
Clinical research
Is a treatment being tested?
—
interventional trials for this specific condition
We could not load trial data for this condition right now.
Data as of 11 September 2026 · last trial check 31 July 2026
low confidence
Recruiting interventional trials
From the matched ClinicalTrials.gov set
Trial data could not be loaded for this build. This is not the same as finding zero interventional trials.
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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).
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 Fatty acyl-CoA reductase 1 deficiency — check Associations / patient organisations on that page.
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.
("Fatty acyl-CoA reductase 1 deficiency" OR "FAR1 deficiency" OR "PFCRD" OR "Peroxisomal fatty acyl-CoA reductase 1 disorder" OR "fatty acyl-CoA reductase 1 disorder" OR "fatty acyl-CoA reductase 1 disorder or fatty acyl-CoA reductase 1 deficiency" OR "rhizomelic chondrodysplasia punctata type 4" OR "severe intellectual disability-epilepsy-cataract syndrome due to FAR1 deficiency" OR "severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency" OR "severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder") OR ("FAR1" OR "FAR1 syndrome" OR "FAR1-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Fatty acyl-CoA reductase 1 deficiency"
Query health: suspect — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Source errors: trials: Error: HTTP 400 for https://clinicaltrials.gov/api/v2/studies?query.cond=%22Fatty%20acyl-CoA%20reductase%201%20deficiency%22%20OR%20%22FAR1%20deficiency%22%20OR%20%22PFCRD%22%20OR%20%22Peroxisomal%20fatty%20acyl-CoA%20reductase%201%20disorder%22%20OR%20%22fatty%20acyl-CoA%20reductase%201%20disorder%22%20OR%20%22fatty%20acyl-CoA%20reductase%201%20disorder%20or%20fatty%20acyl-CoA%20reductase%201%20deficiency%22%20OR%20%22rhizomelic%20chondrodysplasia%20punctata%20type%204%22%20OR%20%22severe%20intellectual%20disability-epilepsy-cataract%20syndrome%20due%20to%20FAR1%20deficiency%22%20OR%20%22severe%20intellectual%20disability-epilepsy-cataract%20syndrome%20due%20to%20fatty%20acyl-CoA%20reductase%201%20deficiency%22%20OR%20%22severe%20intellectual%20disability-epilepsy-cataract%20syndrome%20due%20to%20peroxisomal%20disorder%22&format=json&pageSize=100&countTotal=true
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 (3201) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T16:14:11.732Z