ORPHA:199354
Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy
Synonyms: CARASIL · Maeda syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult
- Status
- active
CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy | CARASIL · Maeda syndrome |
| fr | Artériopathie cérébrale autosomique récessive-infarctus sous-cortical-leucoencéphalopathie | CARASIL · Syndrome de Maeda |
| de | Zerebrale Arteriopathie mit subkortikalen Infarkten und Leukoenzephalopathie, autosomal-rezessiv | CARASIL · Maeda-Syndrom |
| es | Arteriopatía cerebral autosómica recesiva-infarto subcortical-leucoencefalopatía | CARASIL · Síndrome de Maeda |
| it | CARASIL | Arteriopatia cerebrale autosomica recessiva con infarti subcorticali e leucoencefalopatia · Sindrome di Maeda |
| nl | Cerebrale autosomaal recessieve arteriopathie - subcorticale infarcten - leuko-encefalopathie | CARASIL · Syndroom van Maeda |
| pt | Arteriopatia cerebral autossómica recessiva-enfartes subcorticais-leucoencefalopatia | CARASIL |
| pl | CARASIL | Mózgowa autosomalna recesywna arteriopatia z zawałami podkorowymi i leukoencefalopatią · Zespół Maeda |
| cs | Mozečková autozomálně recesivní arteriopatie, subkortikální infarkty a leukoencefalopatie | Cerebrální autozomálně recesivní arteriopatie se subkortikálními infarkty a leukoencefalopatií · Maedaův syndrom |
| uk | Церебральна аутосомно-рецесивна артеріопатія - підкіркові інфаркти - лейкоенцефалопатія | CARASIL · Синдром Маєда |
| zh | 常染色体隐性型脑动脉病，伴皮质下梗死和白质脑病 | Maeda综合征 |
| tr | Serebral otozomal resesif arteriyopati-subkortikal enfarktlar-lökoensefalopati | CARASIL · Maeda sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600142 | E | validated | |
| ICD-10 | I67.8 | NTBT | attributed | validated |
| ICD-11 | 8B22.C1 | E | specific | validated |
| MONDO | 0010829 | E | validated | |
| MeSH | C563990 | E | validated | |
| UMLS | C1838577 | E | validated | |
| GARD | 10424 | E | validated | |
| MedDRA | 10081315 | 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:482072HTRA1-related cerebral small vessel disease
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 |
|---|---|---|---|---|---|---|---|---|
| HTRA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9476 | ENSG00000166033 | 602194 | 10q26.13 | HtrA serine peptidase 1 | 20437615[PMID]_22900900[PMID]_21482952[PMID]_21115960[PMID]_19387015[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
32 annotations · validated 2021-12-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002634 | Arteriosclerosis | |
| HP:0000708 | Atypical behavior | |
| HP:0003418 | Back pain | |
| HP:0008480 | Cervical spondylosis | |
| HP:0100543 | Cognitive impairment | |
| HP:0030892 | Deep cerebral white matter hyperdensities | |
| HP:0001288 | Gait disturbance | |
| HP:0040161 | Localized osteoporosis | |
| HP:0012514 | Lower limb pain | |
| HP:0007024 | Pseudobulbar paralysis | |
| HP:0002497 | Spastic ataxia | |
| HP:0001257 | Spasticity | |
| HP:0002401 | Stroke-like episode | |
| Occasional (29-5%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0012671 | Abulia | |
| HP:0000718 | Aggressive behavior | |
| HP:0012672 | Akinetic mutism | |
| HP:0002293 | Alopecia of scalp | |
| HP:0000741 | Apathy | |
| HP:0000726 | Dementia | |
| HP:0002506 | Diffuse cerebral atrophy | |
| HP:0000712 | Emotional lability | |
| HP:0001269 | Hemiparesis | |
| HP:0000737 | Irritability | |
| HP:0001268 | Mental deterioration | |
| HP:0030833 | Neck pain | |
| HP:0002063 | Rigidity | |
| HP:0003474 | Somatic sensory dysfunction | |
| HP:0001297 | Stroke | |
| Very rare (<4-1%) | ||
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0002751 | Kyphoscoliosis | |
| Excluded (0%) | ||
| HP:0003657 | Granular osmiophilic deposits (GROD) in cells | |
Annotation source: 20437615[PMID]_29322992[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/199354
- This record as JSON: /data/d/199354.json