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CADASIL
1 OMIM reference -
1 associated gene
23 connected diseases
33 signs/symptoms
Disease Type of connection
Infantile myofibromatosis
Early-onset autosomal dominant Alzheimer disease
Familial isolated dilated cardiomyopathy
Alagille syndrome due to 20p12 microdeletion
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Alobar holoprosencephaly
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Chronic myeloid leukemia
Juvenile myelomonocytic leukemia
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Synpolydactyly type 2
Xanthinuria type I
Adams-Oliver syndrome
Behavioral variant of frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Synonym(s):
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
- Hereditary multi-infarct dementia
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the circulatory system -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: D046589
Gene symbol UniProt reference OMIM reference
NOTCH3 Q9UM47600276
Very frequent
- Autosomal dominant inheritance
- Facial pain / cephalalgia / migraine
- Fever / chilling
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Motor deficit / trouble
- Obnubilation / coma / lethargia / desorientation
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline
- Retinal vascular anomalies / retinal telangiectasia
- Sensitive trouble / deficit
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Transient amaurosis / acute visual trouble

Frequent
- Abnormal gait
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Cranial nerves palsy
- EEG anomalies
- Hypertonia / spasticity / rigidity / stiffness
- Mild visual loss / impaired visual acuity
- Transient cerebral ischemia / stroke
- Troubles of memory / amnesia / hypermnesia

Occasional
- Arterial atheroma / precocious atherosclerosis / arteriosclerosis
- Chronic arterial hypertension
- Early death / lethality
- Extrapyramidal syndrome
- Hearing loss / hypoacusia / deafness
- Hypoglycemia
- Intracranial / cerebral / meningeal hemorrhage
- Mucosal / cutaneous hemorrhage
- Peripheral neuropathy
- Repeat respiratory infections
- Seizures / epilepsy / absences / spasms / status epilepticus
- Varices / varicous veins / venous insufficiency