ORPHA:139447
Progressive cavitating leukoencephalopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare leukodystrophy characterized by acute episodes of infancy/early childhood-onset neurological deficit (including ataxia, dysarthria and seizures) with irritability and opisthotonus followed either by steady deterioration or by alternating periods of rapid progression and prolonged periods of stability.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive cavitating leukoencephalopathy | |
| fr | Leucoencéphalopathie cavitaire progressive | |
| de | Leukoenzephalopathie, kavitierende progressive | |
| es | Leucoencefalopatía cavitada progresiva | |
| it | Leucoencefalopatia cavitante progressiva | |
| nl | Progressieve caviterende leuko-encefalopathie | |
| pt | Leucoencefalopatia cavitante, progressiva | |
| pl | Postępująca leukoencefalopatia z powstawaniem jam | |
| cs | Progresivní leukoencefalopatie s kavitacemi | |
| uk | Прогресуюча кавітаційна лейкоенцефалопатія | |
| zh | 进行性空泡性脑白质病 | |
| tr | İlerleyici kavitasyonlu lökoensefalopati |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E75.2 | NTBT | attributed | validated |
| ICD-11 | 8A44.3 | NTBT | index | validated |
| MONDO | 0015349 | E | validated | |
| UMLS | C4304840 | E | validated | |
| GARD | 19918 | 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:68356Leukodystrophy
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 |
|---|---|---|---|---|---|---|---|---|
| NDUFV2 | Disease-causing germline mutation(s) in | Assessed | HGNC:7717 | ENSG00000178127 | 600532 | 18p11.22 | NADH:ubiquinone oxidoreductase core subunit V2 | 33811136[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 19 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/139447
- This record as JSON: /data/d/139447.json