ORPHA:436271
Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare mitochondrial disease characterized by a distinctive MRI pattern of cavitating leukodystrophy, predominantly in the posterior region of the cerebral hemispheres. The clinical picture varies widely between acute neurometabolic decompensation in infancy with loss of developmental milestones, seizures, and pyramidal signs rapidly evolving into spastic tetraparesis, to subtle neurological symptoms presenting in adolescence. The disease course tends to stabilize over time in most patients, and marked recovery of milestones may be observed.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy | |
| fr | Leucoencéphalopathie cavitaire postérieure non progressive-neuropathie périphérique | |
| de | Non-progressive vorwiegend posteriore kavitierende Leukenzephalopathie mit peripherer Neuropathie | |
| es | Leucoencefalopatía cavitada predominantemente posterior no progresiva con neuropatía periférica | |
| it | Leucoencefalopatia cavitante prevalentemente posteriore non progressiva con neuropatia periferica | |
| nl | Niet-progressieve voornamelijk posterieur caviterende leuko-encefalopathie met perifere neuropathie | |
| pt | Leucoencefalopatia cavitária não progressiva com predomínio cerebral posterior e neuropatia periférica | |
| pl | Niepostępująca tylna leukoencefalopatia z tworzeniem jam oraz neuropatią obwodową | |
| cs | Neprogresivní predominantně posteriorní kavitující leukoencefalopatie s periferní neuropatií | |
| uk | Непрогресуюча переважно задня кавітуюча лейкоенцефалопатія з периферичною нейропатією | |
| zh | 非进行性后空洞性脑白质病伴周围神经病 | |
| tr | Periferik nöropati ile seyreden ilerleyici olmayan, ağırlıklı posterior kavitasyonlu lökoensefalopati |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619061 | E | validated | |
| ICD-10 | G93.4 | NTBT | attributed | validated |
| ICD-11 | 8A44.3 | NTBT | attributed | validated |
| MONDO | 0018576 | E | validated | |
| UMLS | C5688227 | 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 (4):
- ORPHA:68356Leukodystrophy
rare genetic diseases; rare neurological diseases - ORPHA:254822Mitochondrial oxidative phosphorylation disorder with no known mechanism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:207018Rare hereditary metabolic disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COA8 | Disease-causing germline mutation(s) in | Assessed | HGNC:20492 | ENSG00000256053 | 616003 | 14q32.33 | cytochrome c oxidase assembly factor 8 | 25175347[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
38 annotations · validated 2017-10-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006980 | Progressive leukoencephalopathy | |
| HP:0007133 | Progressive peripheral neuropathy | |
| Frequent (79-30%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0003355 | Aminoaciduria | |
| HP:0001903 | Anemia | |
| HP:0001251 | Ataxia | |
| HP:0008619 | Bilateral sensorineural hearing impairment | |
| HP:0001410 | Decreased liver function | |
| HP:0000750 | Delayed speech and language development | |
| HP:0002376 | Developmental regression | |
| HP:0006555 | Diffuse hepatic steatosis | |
| HP:0001262 | Excessive daytime somnolence | |
| HP:0002875 | Exertional dyspnea | |
| HP:0001508 | Failure to thrive | |
| HP:0030195 | Fatigable weakness of swallowing muscles | |
| HP:0001288 | Gait disturbance | |
| HP:0001290 | Generalized hypotonia | |
| HP:0003324 | Generalized muscle weakness | |
| HP:0001263 | Global developmental delay | |
| HP:0003076 | Glycosuria | |
| HP:0002240 | Hepatomegaly | |
| HP:0003109 | Hyperphosphaturia | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0002490 | Increased CSF lactate | |
| HP:0001249 | Intellectual disability | |
| HP:0003128 | Lactic acidosis | |
| HP:0001270 | Motor delay | |
| HP:0000648 | Optic atrophy | |
| HP:0000580 | Pigmentary retinopathy | |
| HP:0000093 | Proteinuria | |
| HP:0000508 | Ptosis | |
| HP:0001994 | Renal Fanconi syndrome | |
| HP:0000124 | Renal tubular dysfunction | |
| HP:0002747 | Respiratory insufficiency due to muscle weakness | |
| HP:0001250 | Seizure | |
| HP:0040291 | Skeletal muscle steatosis | |
| Occasional (29-5%) | ||
| HP:0001285 | Spastic tetraparesis | |
| HP:0002013 | Vomiting | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 16782708[PMID]_25175347[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/436271
- This record as JSON: /data/d/436271.json