ORPHA:88619
Familial acute necrotizing encephalopathy
Synonyms: ADANE · Recurrent acute necrotizing encephalopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial acute necrotizing encephalopathy | ADANE · Recurrent acute necrotizing encephalopathy |
| fr | Encéphalopathie nécrosante aiguë familiale | ADANE · Encéphalopathie nécrosante aiguë récurrente |
| de | Enzephalopathie, akute nekrotisierende, familiäre Form | ADANE · Familiäre akute nekrotisierende Enzephalopatie · Rekurrente akute nekrotisierende Enzephalopathie |
| es | Encefalopatía aguda necrosante familiar | ADANE · Encefalopatía aguda necrosante recurrente |
| it | Encefalopatia necrotizzante acuta familiare | ADANE · Encefalopatia necrotizzante acuta ricorrente |
| nl | Familiale acute necrotiserende encefalopathie | ADANE · Recidiverende acute necrotiserende encefalopathie |
| pt | Encefalopatia necrotizante, aguda, autossómica dominante | |
| pl | Rodzinna ostra encefalopatia martwicza | ADANE · Nawracająca ostra encefalopatia martwicza |
| cs | Familiární akutní nekrotizující encefalopatie | ADANE · Rekurentní akutní nekrotizující encefalopatie |
| uk | Сімейна гостра некротизуюча енцефалопатія | АДАНЕ · Рецидивуюча гостра некротизуюча енцефалопатія |
| zh | 家族性急性坏死性脑病 | 复发性急性出血性脑白质炎 |
| tr | ailesel akut nekrotizan ensefalopati | ADANE · Tekrarlayan akut nekrotizan ensefalopati |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608033 | E | validated | |
| ICD-10 | G93.4 | NTBT | attributed | validated |
| MONDO | 0011953 | E | validated | |
| UMLS | C4509836 | E | validated | |
| GARD | 13232 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RANBP2 | Disease-causing germline mutation(s) in | Assessed | HGNC:9848 | ENSG00000153201 | 601181 | 2q13 | RAN binding protein 2 | 19807769[PMID]_19811512[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 14 families | Worldwide | Family(ies) | Validated | 12874403[PMID]_19118815[PMID]_21205700[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_12874403[PMID]_19118815[PMID]_21205700[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
24 annotations · validated 2019-03-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006846 | Acute encephalopathy | |
| HP:0001259 | Coma | |
| HP:0002922 | Increased CSF protein concentration | |
| Frequent (79-30%) | ||
| HP:0012747 | Abnormal brainstem MRI signal intensity | |
| HP:0002363 | Abnormal brainstem morphology | |
| HP:0002793 | Abnormal pattern of respiration | |
| HP:0031982 | Abnormal putamen morphology | |
| HP:0025404 | Abnormal visual fixation | |
| HP:0010663 | Abnormality of thalamus morphology | |
| HP:0002181 | Cerebral edema | |
| HP:0011887 | Choroid hemorrhage | |
| HP:0002376 | Developmental regression | |
| HP:0001260 | Dysarthria | |
| HP:0001945 | Fever | |
| HP:0001288 | Gait disturbance | |
| HP:0003324 | Generalized muscle weakness | |
| HP:0002171 | Gliosis | |
| HP:0001276 | Hypertonia | |
| HP:0001249 | Intellectual disability | |
| HP:0002063 | Rigidity | |
| HP:0001250 | Seizure | |
| HP:0002510 | Spastic tetraplegia | |
| HP:0001257 | Spasticity | |
| HP:0002013 | Vomiting | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 19118815[PMID]_12874403[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/88619
- This record as JSON: /data/d/88619.json