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6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
33 signs/symptoms
Semantic dementia
CADASIL

C9ORF72 NOTCH3
CHMP2B
GRN
MAPT
PSEN1
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PSEN1
(0.52)
NOTCH3



Citations in the biomedical literature:


Semantic dementia
C9ORF72 CHMP2B GRN MAPT PSEN1 VCP

CADASIL
NOTCH3



Semantic dementia
CADASIL

Synonym(s):
- Semantic primary progressive aphasia
- Semantic variant PPA

Synonym(s):
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
- Hereditary multi-infarct dementia

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the circulatory system -

Epidemiological data:
Class of prevalence: -
Average age onset: adulthood
Average age of death: -
Type of inheritance: multigenic/multifactorial
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:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D046589

CADASIL

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


Semantic dementia

(no data available)