Fatal post-viral neurodegenerative disorder
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare neuroinflammatory disease characterized by the onset of ataxia, dysarthia and cerebral white matter changes which are triggered by viral infection. Episodic progressive neurodegeneration (manifesting with loss of motor and verbal skills, muscle weakness, further cerebral white matter degeneration and, eventually, death) is observed in the absence of hematopathology, cytokine overproduction, fever, hypertrigliceridemia, hypofibrinogenemia and hyperferritinemia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fatal post-viral neurodegenerative disorder | |
| fr | Maladie neurodégénérative fatale post-virale | |
| de | Fatale post-virale neurodegenerative Störung | |
| es | Trastorno neurodegenerativo postviral letal | |
| it | Malattia neurodegenerativa letale post-virale | |
| nl | Fatale postvirale neurodegeneratieve aandoening | |
| pt | Doença neurodegenerativa pós-viral, forma fatal | |
| pl | Śmiertelne powirusowe zaburzenie neurodegeneracyjne | |
| cs | Fatální postvirové neurodegenerativní onemocnění | |
| uk | Фатальний поствірусний нейродегенеративний розлад | |
| zh | 致命病毒感染后神经退行性疾病 | |
| tr | Fatal post-viral nörodejeneratif bozukluk |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G04.8 | NTBT | attributed | validated |
| MONDO | 0018316 | E | validated | |
| UMLS | C4751597 | 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 (3):
- ORPHA:102005Brain inflammatory disease
rare neurological diseases - ORPHA:183500Genetic neurodegenerative disease
rare genetic diseases - ORPHA:182070Rare neurodegenerative disease
rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PRF1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9360 | ENSG00000180644 | 170280 | 10q22.1 | perforin 1 | 23443029[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 23443029[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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/391343
- This record as JSON: /data/d/391343.json