Acute necrotizing encephalopathy of childhood
Synonyms: ANEC · Isolated ANE · Isolated acute necrotizing encephalopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Childhood
- Status
- active
A rare neurologic disease characterized by a rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointesitnal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acute necrotizing encephalopathy of childhood | ANEC · Isolated ANE · Isolated acute necrotizing encephalopathy |
| fr | Encéphalopathie nécrosante aiguë de l'enfant | ANE isolée · ANEC · Encéphalopathie nécrosante aiguë isolée |
| de | Enzephalopathie, nekrotisierende, akute, der Kindheit | ANE, isolierte · ANEC · Enzephalopathie, akute nekrotisierende, isolierte Form |
| es | Encefalopatía necrotizante aguda de la infancia | ANE aislada · ANEC · ENA aislada · Encefalopatía necrotizante aguda aislada |
| it | Encefalopatia necrotizzante acuta dell'infanzia | |
| nl | Acute necrotiserende encefalopathie in de kindertijd | ANEC · Geïsoleerde ANE · Geïsoleerde acute necrotiserende encefalopathie |
| pt | Encefalopatia necrotizante aguda da adolescência | |
| pl | Dziecięca ostra encefalopatia marwicza | ANEC · Izolowana ANE · Izolowana ostra encefalopatia marwicza |
| cs | Akutní nekrotizující encefalopatie dětí | ANEC · Izolovaná ANE · Izolovaná akutní nekrotizující encefalopatie |
| uk | Гостра некротизуюча енцефалопатія дитячого віку | ANEC · Ізольована гостра некротизуюча енцефалопатія · Ізольований АНЕ |
| zh | 儿童急性坏死性脑病 | 孤立性急性坏死性脑病 |
| tr | Çocukluk çağı akut nekrotizan ensefalopatisi | ANEC · İzole ANE · İzole akut nekrotizan ensefalopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614212 | BTNT | validated | |
| ICD-10 | G31.8 | NTBT | attributed | validated |
| ICD-11 | 8E47 | NTBT | attributed | validated |
| MONDO | 0016991 | E | validated | |
| UMLS | C4706387 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98252Infectious encephalitis
rare neurological diseases; rare infectious diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CPT2 | Candidate gene tested in | Not yet assessed | HGNC:2330 | ENSG00000157184 | 600650 | 1p32.3 | carnitine palmitoyltransferase 2 | 20934285[PMID] |
| RANBP2 | Major susceptibility factor in | Not yet assessed | HGNC:9848 | ENSG00000153201 | 601181 | 2q13 | RAN binding protein 2 | 19807769[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/263524
- This record as JSON: /data/d/263524.json