ORPHA:88619

Familial acute necrotizing encephalopathy

low confidenceDisorder

Also known as: ADANE · Recurrent acute necrotizing encephalopathy

Publications

2,489

Trials

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

Gene identifiedPresent
Definitive — RANBP2
LiteraturePresent
2,489 matched papers (2,275 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 trialPresent
1 matched on ClinicalTrials.gov

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.

RANBP2

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?

2,489

2,489 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.

2,489 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).

2,275 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?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

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
02
Teym A10 papers · 2026
Department of Environmental Health, College of Health Sciences, Debre Markos University, Debre Markos, Ethiopia.
Papers in Europe PMC
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
04
Adane L7 papers · 2026
Department of Radiology, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia.
Papers in Europe PMC
05
Adane M7 papers · 2026
Department of Physics, Addis Ababa University, PO Box 1176, Addis Ababa, Ethiopia.
Papers in Europe PMC
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
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
08
Adane A6 papers · 2026
Amhara Agriculture Research Institut, Andassa Livestock Research Center, PO. Box, 27, Bahir Dar, Ethiopia.
Papers in Europe PMC
09
Adane B6 papers · 2026
Department of Environmental Health, College of Health Sciences, Debre Markos University, Debre Markos, Ethiopia.
Papers in Europe PMC
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?

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

low confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

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 2026-07-26

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"

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" OR "RANBP2"

Recall-expansion terms: RANBP2

Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

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 (2489) 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