ORPHA:136
CADASIL
Synonyms: Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy · Hereditary multi-infarct dementia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CADASIL | Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy · Hereditary multi-infarct dementia |
| fr | CADASIL | Artériopathie cérébrale autosomique dominant-infarctus sous-cortical-leucoencéphalopathie · Syndrome de démence-infarctus cérébraux multiples héréditaires |
| de | CADASIL | Zerebrale autosomal-dominante Arteriopathie mit subkortikalen Infarkten und Leukenzephalopathie · Demenz mit multiplen subkortikalen Infarkten, hereditäre Form |
| es | CADASIL | Arteriopatía cerebral autosómica dominante-infartos subcorticales-leucoencefalopatía · Demencia multi-infarto hereditaria |
| it | CADASIL | Arteriopatia cerebrale autosomica dominante-infarti subcorticali-leucoencefalopatia · Demenza multi-infartuale ereditaria |
| nl | CADASIL | Erfelijke multi-infarctdementie · Cerebrale autosomaal dominante arteriopathie - subcorticale infarcten - leuko-encefalopathie |
| pt | Arteriopatia cerebral autossómica dominante-enfartes subcorticais-leucoencefalopatia | CADASIL · Demência-enfartes múltiplos, tipo hereditário |
| pl | CADASIL | Dziedziczna demencja wielozawałowa · Mózgowa autosomalna dominująca arteriopatia z podkorowymi zawałami i leukoencefalopatią |
| cs | Cerebrální autozomálně dominantní arteriopatie, subkortikální infarkty, leukoencefalopatie | Hereditární formy multiinfarktové demence · Cerebrální autozomálně dominantní arteriopatie se subkortikálními infarkty a leukoencefalopatií |
| uk | Церебральна аутосомно-домінантна артеріопатія - підкіркові інфаркти - лейкоенцефалопатія | CADASIL · Спадкова мультиінфарктна деменція |
| zh | 常染色体显性大脑动脉病-皮质下梗死-脑白质病 | 遗传性多灶梗塞性痴呆 |
| tr | Serebral otozomal dominant arteriyopati-subkortikal enfarktlar-lökoensefalopati | CADASIL · Kalıtsal multi-enfarkt demans |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 125310 | NTBT | validated | |
| ICD-10 | I67.8 | NTBT | attributed | validated |
| ICD-11 | 8B22.C0 | E | specific | validated |
| MONDO | 0000914 | E | validated | |
| MeSH | D046589 | E | validated | |
| UMLS | C0751587 | E | validated | |
| GARD | 1049 | E | validated | |
| MedDRA | 10065551 | 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 (4):
- ORPHA:477754Genetic cerebral small vessel disease
rare genetic diseases; rare neurological diseases - ORPHA:98549Rare cerebrovascular dementia
rare genetic diseases; rare neurological diseases - ORPHA:716459Rare disorder with progressive retinal vasculopathy as a major feature
rare ophthalmic disorders - ORPHA:717348Rare genetic disorder with progressive retinal vasculopathy as a major feature
rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NOTCH3 | Disease-causing germline mutation(s) in | Assessed | HGNC:7883 | ENSG00000074181 | 600276 | 19p13.12 | notch receptor 3 | 20301673[PMID] |
5
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 3 / 100 000 | Europe | Value and class | Validated | 12146805[PMID]_15834040[PMID]_22422895[PMID]_[EXPERT]_ORPHANET |
| Point prevalence | 1-9 / 100 000 | 2 / 100 000 | United Kingdom | Value and class | Validated | 22422895[PMID]_15834040[PMID]_ [EXPERT] |
| Point prevalence | 1-9 / 100 000 | 3 / 100 000 | Finland | Value and class | Validated | 12146805[PMID]_[EXPERT]_ 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.
6
HPO phenotypes
40 annotations · validated 2020-05-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0032325 | Lacunar stroke | |
| HP:0002352 | Leukoencephalopathy | |
| HP:0040329 | Multifocal hyperintensity of cerebral white matter on MRI | |
| Frequent (79-30%) | ||
| HP:0000741 | Apathy | |
| HP:0002637 | Cerebral ischemia | |
| HP:0100543 | Cognitive impairment | |
| HP:0000712 | Emotional lability | |
| HP:0002076 | Migraine | |
| HP:0002077 | Migraine with aura | |
| HP:0001297 | Stroke | |
| HP:0002326 | Transient ischemic attack | |
| Occasional (29-5%) | ||
| HP:0000739 | Anxiety | |
| HP:0100545 | Arterial stenosis | |
| HP:0031843 | Bradyphrenia | |
| HP:0012444 | Brain atrophy | |
| HP:0001342 | Cerebral hemorrhage | |
| HP:0001289 | Confusion | |
| HP:0000726 | Dementia | |
| HP:0000716 | Depression | |
| HP:0000819 | Diabetes mellitus | |
| HP:0001260 | Dysarthria | |
| HP:0002015 | Dysphagia | |
| HP:0001298 | Encephalopathy | |
| HP:0001288 | Gait disturbance | |
| HP:0002301 | Hemiplegia | |
| HP:0000822 | Hypertension | |
| HP:0010794 | Impaired visuospatial constructive cognition | |
| HP:0002170 | Intracranial hemorrhage | |
| HP:0002140 | Ischemic stroke | |
| HP:0002463 | Language impairment | |
| HP:0007185 | Loss of consciousness | |
| HP:0002354 | Memory impairment | |
| HP:0002333 | Motor deterioration | |
| HP:0001300 | Parkinsonism | |
| HP:0007236 | Recurrent subcortical infarcts | |
| HP:0001250 | Seizure | |
| HP:0001257 | Spasticity | |
| HP:0010992 | Stress urinary incontinence | |
| Very rare (<4-1%) | ||
| HP:0002381 | Aphasia | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 20038773[PMID]_14593195[PMID]_16717211[PMID]_29478611[PMID]_27591799[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/136
- This record as JSON: /data/d/136.json