ORPHA:477754
Genetic cerebral small vessel disease
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Genetic cerebral small vessel disease | |
| fr | Maladie génétique des petites artères cérébrales | |
| de | Zerebrale Mikroangiopathie, genetisch bedingte | |
| es | Enfermedad genética de pequeños vasos cerebrales | |
| it | Malattia cerebrale dei piccoli vasi di origine genetica | |
| nl | Genetische ziekte van cerebrale kleine bloedvaten | |
| pt | Doença dos pequenos vasos cerebrais genética | |
| pl | Genetyczna choroba małych naczyń mózgu | |
| cs | Geneticky podmíněná nemoc malých cév mozku | |
| uk | Генетично обумовлене захворювання дрібних судин головного мозку | |
| zh | 遗传性大脑小血管疾病 | |
| tr | Genetik serebral küçük damar hastalığı |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 18787 | E | validated | |
| UMLS | C5681259 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:183503Genetic central nervous system and retinal vascular disease
rare genetic diseases - ORPHA:71281Rare central nervous system and retinal vascular disease
rare neurological diseases
Children (12):
- ORPHA:314572Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
- ORPHA:136CADASIL
- ORPHA:575553CARASAL
- ORPHA:477759COL4A1 or COL4A2-related cerebral small vessel disease
- ORPHA:313838Coats plus syndrome
- ORPHA:729649Early-onset leucoencephalopaty-spasticity-stroke-neurodevelopmental disorder
- ORPHA:621758Fibrosis-neurodegeneration-cerebral angiomatosis syndrome
- ORPHA:482072HTRA1-related cerebral small vessel disease
- ORPHA:85458Hereditary cerebral amyloid angiopathy
- ORPHA:542310Leukoencephalopathy with calcifications and cysts
- ORPHA:728764NIT1-related cerebral small vessel disease
- ORPHA:247691Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
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/477754
- This record as JSON: /data/d/477754.json