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ORPHA:88619

Familial acute necrotizing encephalopathy

low confidenceDisorder

Also known as: ADANE · Recurrent acute necrotizing encephalopathy

Publications

6,457

Trials

0

Interventional, condition-specific

Researchers

1,234

Distinct authors in sample

Gene link

RANBP2

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Familial acute necrotizing or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen.

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (3)

encephalopathy, acute, infection-induced, 3, susceptibility to · encephalopathy, acute, infection-induced, susceptibility to, type 3 · recurrent acute necrotizing encephalopathy

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

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Definitive — RANBP2

  2. LiteraturePresent

    6,457 matched papers (4,697 in last 10 years) Source

  3. Phenotype characterisedPresent

    35 HPO annotations (e.g. Coma; Seizure; Spasticity) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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 (RANBP2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

35

Associated phenotypes · MONDO:0011953

  • Coma
  • Seizure
  • Spasticity
  • Fever
  • Developmental regression

Showing 5 of 35 — 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?

6,457

6,457 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

6,457 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).

4,697 in the last 10 years · low confidence

Phrase hits: 2,489 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,234

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.

  1. 01
    Mihret A13 papers · 2026

    Department of Microbiology, Immunology, and Parasitology, School of Medicine, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia.

    Papers in Europe PMC
  2. 02
    Teym A10 papers · 2026

    Department of Environmental Health, College of Health Sciences, Debre Markos University, Debre Markos, Ethiopia.

    Papers in Europe PMC
  3. 03
    Adugna A9 papers · 2026

    Department of Medical Laboratory Sciences, College of Health Sciences, Debre Markos University, Debre Markos, Ethiopia. Electronic address: adaneadugna29@gmail.com.

    Papers in Europe PMC
  4. 04
    Adane L7 papers · 2026

    Department of Radiology, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia.

    Papers in Europe PMC
  5. 05
    Adane M7 papers · 2026

    Department of Physics, Addis Ababa University, PO Box 1176, Addis Ababa, Ethiopia.

    Papers in Europe PMC
  6. 06
    Adane T7 papers · 2026

    Department of Hematology and Immunohematology, School of Biomedical and Laboratory Sciences, College of Medicine and Health Sciences, University of Gondar, Gondar, Ethiopia.

    Papers in Europe PMC
  7. 07
    Abebaw D6 papers · 2026

    Department of Epidemiology and Biostatistics, Institute of Public Health, College of Medicine and Health Sciences, University of Gondar, Gondar, Ethiopia.

    Papers in Europe PMC
  8. 08
    Adane A6 papers · 2026

    Amhara Agriculture Research Institut, Andassa Livestock Research Center, PO. Box, 27, Bahir Dar, Ethiopia.

    Papers in Europe PMC
  9. 09
    Adane B6 papers · 2026

    Department of Environmental Health, College of Health Sciences, Debre Markos University, Debre Markos, Ethiopia.

    Papers in Europe PMC
  10. 10
    Adane KC6 papers · 2026

    Department of Environmental and Occupational Health and Safety, College of Medicine and Health Sciences, Wollo University, Dessie, Ethiopia.

    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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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.

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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · 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).

Uncertain / not reviewed (2)

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 Familial acute necrotizing encephalopathy — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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.

("Familial acute necrotizing encephalopathy" OR "ADANE" OR "Recurrent acute necrotizing encephalopathy" OR "encephalopathy, acute, infection-induced, 3, susceptibility to" OR "encephalopathy, acute, infection-induced, susceptibility to, type 3") OR ("RANBP2" OR "RANBP2 syndrome" OR "RANBP2-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Familial acute necrotizing encephalopathy" OR "ADANE" OR "Recurrent acute necrotizing encephalopathy" OR "encephalopathy, acute, infection-induced, 3, susceptibility to" OR "encephalopathy, acute, infection-induced, susceptibility to, type 3"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; 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 (6457) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T03:22:22.113Z