CARASAL
Synonyms: Cathepsin A-related arteriopathy-strokes-leukoencephalopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare genetic cerebral small vessel disease characterized by an adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leukoencephalopathy. Patients may present with migraine, transient ischemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, sicca syndrome, impaired REM sleep, and therapy-resistant hypertension, among others. Brain MRI typically shows a leukoencephalopathy that is disproportionately severe and extensive compared to the clinical disease.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CARASAL | Cathepsin A-related arteriopathy-strokes-leukoencephalopathy |
| fr | CARASAL | Arthériopathie-infarctus cérébraux-leucoencéphalopathie liée à la cathepsine A |
| de | CARASAL | Cathepsin A-assoziierte Arteriopathie-Schlaganfall-Leukoenzephalopathie |
| es | CARASAL | Arteriopatía asociada a catepsina A-accidentes cerebrovasculares-leucoencefalopatía |
| it | Arteriopatia correlata alla catepsina A-Ictus-leucoencefalopatia | Arteriopatia correlata alla catepsina A-ictus-leucoencefalopatia |
| nl | CARASAL | Cathepsine A-gerelateerde arteriopathie - cerebrovasculaire accidenten - leuko-encefalopathie |
| pt | Arteriopatia-AVC-leucoencefalopatia catepsina A-relacionada | |
| pl | Leukoencefalopatia z arteriopatią i udarem związana z katepsyną A | = en |
| cs | Katepsin A-vázaná arteriopatie, mrtvice a leukoencefalopatie | = en |
| uk | Артеріопатія-інсульти-лейкоенцефалопатія, повязані з катепсином А | CARASAL |
| zh | 组织蛋白酶A相关动脉病-脑卒中-脑白质病 | CARASAL |
| tr | Katepsin A-ilişkili arteriopati-inme-lökoensefalopati | CARASAL |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 621394 | E | validated | |
| ICD-10 | I67.8 | NTBT | attributed | validated |
| MONDO | 0035551 | E | validated | |
| UMLS | C5680354 | 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:98549Rare cerebrovascular dementia
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CTSA | Disease-causing germline mutation(s) in | Assessed | HGNC:9251 | ENSG00000064601 | 613111 | 20q13.12 | cathepsin A | 31177426[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/575553
- This record as JSON: /data/d/575553.json