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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
3 associated genes
41 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Takayasu arteritis

APP HLA-B
IL12B
MLX


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
(0.56)
MLX



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
Takayasu arteritis
HLA-B IL12B MLX



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Takayasu arteritis

Synonym(s):
- HCHWA, Arctic type

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare renal disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: sporadic

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D013625

Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Takayasu arteritis

Very frequent
- Autosomal dominant inheritance
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline



Very frequent
- Acute arterial hypertension / hypertensive crisis
- Acute ischemic syndrome
- Arterial aneurism (excluding aorta)
- Arterial pulse abolition
- Arterial stenosis / occlusion
- Asthenia / fatigue / weakness
- Cardiac valvulopathy
- Fever / chilling
- Hyperhidrosis / increased sweating
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Vascularitis / vasculitides / arteritis
- Weight loss / loss of appetite / break in weight curve / general health alteration

Frequent
- Anaemia
- Angor pectoris / myocardial infarction
- Anorexia
- Aortic root dilatation / dilation / aneurysm
- Aortic valve atresia / stenosis / narrowing / supra-aortic / supra-valvular stenosis
- Arthritis / synovitis / synovial proliferation
- Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP
- Cardiomyopathy / hypertrophic / dilated
- Chronic arterial hypertension
- Chronic skin infection / ulcerations / ulcers / cancrum
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Facial pain / cephalalgia / migraine
- Gangrena / necrosis
- Muscle weakness / flaccidity
- Myalgia / muscular pain
- Pulmonary hypertension
- Respiratory rhythm disorder
- Seizures / epilepsy / absences / spasms / status epilepticus
- Thoracic / chest pain
- Visual loss / blindness / amblyopia

Occasional
- Articular / joint pain / arthralgia
- Endocardium anomalies / fibroelastosis / endocarditis
- Hemoptysis
- Mesenteric / intestinal infarction
- Obnubilation / coma / lethargia / desorientation
- Retinopathy
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Transient amaurosis / acute visual trouble
- Transient cerebral ischemia / stroke