Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome | |
| fr | Leucoencéphalopathie autosomique récessive-infarctus cérébraux-rétinite pigmentaire | |
| de | Autosomal-rezessive Leukoenzephalopathie-ischämischer Schlaganfall-Retinitis pigmentosa-Syndrom | |
| es | Síndrome de leucoencefalopatía-ictus isquémico-retinosis pigmentaria autosómico recesivo | |
| it | Sindrome autosomica recessiva da leucoencefalopatia, ictus ischemico e retinite pigmentosa | |
| nl | Autosomaal recessieve leuko-encefalopathie - ischemische beroerte - retinitis pigmentosa-syndroom | |
| pt | Síndrome de leucoencefalopatia autosómica recessiva-acidente vascular cerebral isquémico-retinite pigmentosa | |
| pl | Autosomalny recesywny zespół leukoencefalopatii, udaru niedokrwiennego i zwyrodnienia barwnikowego siatkówki | |
| cs | Autozomálně recesivní syndrom leukoencefalopatie s ischemickou mozkovou příhodou a retinitis pigmentosa | |
| uk | Аутосомно-рецесивний синдром лейкоенцефалопатіїя-ішемічного інсульту-пігментної дегенерації сітківки | |
| zh | 常染色体隐性遗传脑白质病-缺血性脑卒中-视网膜色素变性综合征 | |
| tr | Otozomal resesif lökoensefalopati-iskemik inme-retinitis pigmentosa sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | I67.8 | NTBT | attributed | validated |
| MONDO | 0017804 | E | validated | |
| UMLS | C4749919 | 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 (2):
- ORPHA:477754Genetic cerebral small vessel disease
rare genetic diseases; rare neurological diseases - ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 22436252[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/314572
- This record as JSON: /data/d/314572.json