ORPHA:621758
Fibrosis-neurodegeneration-cerebral angiomatosis syndrome
Also known as: FINCA · Interstitial lung fibrosis-neurodegeneration-cerebral angiomatosis syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
2,147
Trials
0
Interventional, condition-specific
Researchers
1,147
Distinct authors in sample
Gene link
NHLRC2
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare interstitial lung disease characterized by early-onset, severe, lung disease manifesting by respiratory distress, neurological symptoms including axial , , irritability, dystonia, poor visual contact and , and variable multisystemic involvement including malabsorption, growth failure, recurrent infections, chronic hemolytic anemia and liver dysfunction. Kidney dysfunction, cardiac involvement including cardiomegaly and cardiac hypertrophy, decreased vision and strabismus have also been reported. Lung fibrosis may cause death in infancy from respiratory failure.
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:0850090
- MONDO:0032651
- OMIM:618278
- UMLS:C4748939
Additional Mondo synonyms (2)
FINCA syndrome · fibrosis-neurodegeneration-cerebral angiomatosis 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 — NHLRC2
- LiteraturePresent
2,147 matched papers (1,453 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 (NHLRC2).
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?
2,147
2,147 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=5449) is 41.
2,147 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).
1,453 in the last 10 years · low confidence
Phrase hits: 2,147 · MeSH hits: 0
Who's working on it?
1,147
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.
- 01Font-I-Furnols M16 papers · 2026
IRTA-Food Quality and Technology, Finca Camps i Armet, Monells, Spain.
Papers in Europe PMC - 02Jofré A12 papers · 2026
IRTA-Food Safety and Functionality, Finca Camps i Armet, Monells, Spain.
Papers in Europe PMC - 03Bover-Cid S10 papers · 2026
IRTA, Food Safety and Functionality Program, Finca Camps i Armet s/n, 17121 Monells, Girona, Spain.
Papers in Europe PMC - 04Fulladosa E9 papers · 2026
IRTA, Food Quality and Technology Program, Finca Camps i Armet s/n, 17121 Monells, Girona, Spain. Electronic address: elena.fulladosa@irta.cat.
Papers in Europe PMC - 05Brun A8 papers · 2026
IRTA-Food Quality and Technology, Finca Camps i Armet, Monells, Spain.
Papers in Europe PMC - 06Gou P8 papers · 2026
IRTA, Food Quality and Technology Program, Finca Camps i Armet s/n, 17121 Monells, Girona, Spain.
Papers in Europe PMC - 07
- 08Ribas-Agustí A8 papers · 2026
IRTA (Institute of Agrifood Research and Technology), Food Safety and Functionality Programme, Finca Camps i Armet s/n, 17200 Monells, Spain. Electronic address: albert.ribas@irta.cat.
Papers in Europe PMC - 09Muñoz I6 papers · 2025
IRTA, Food Quality and Technology Program, Finca Camps i Armet s/n, 17121 Monells, Girona, Spain.
Papers in Europe PMC - 10Zomeño C6 papers · 2025
IRTA-Food Quality and Technology, Finca Camps i Armet, Monells, Spain; Departamento de Producción y Sanidad Animal, Salud Pública Veterinaria y Ciencia y Tecnología de los Alimentos, Facultad de Veterinaria, Universidad Cardenal Herrera-CEU, CEU Universities, Alfara del Patriarca, Spain. Electronic address: cristina.zomeno@uchceu.es.
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.
low 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.
"Fibrosis-neurodegeneration-cerebral angiomatosis syndrome" OR "FINCA" OR "Interstitial lung fibrosis-neurodegeneration-cerebral angiomatosis syndrome" OR "FINCA syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Fibrosis-neurodegeneration-cerebral angiomatosis syndrome" OR "FINCA" OR "Interstitial lung fibrosis-neurodegeneration-cerebral angiomatosis syndrome" OR "FINCA syndrome" OR "NHLRC2"
Recall-expansion terms: NHLRC2
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 (2147) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T19:10:19.374Z