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1 OMIM reference -
3 associated genes
41 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4
1 OMIM reference -
1 associated gene
7 signs/symptoms
Takayasu arteritis
Hereditary cerebral hemorrhage with amyloidosis, Italian type

HLA-B APP
IL12B
MLX


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


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



Takayasu arteritis
Hereditary cerebral hemorrhage with amyloidosis, Italian type

Synonym(s):
(no synonyms)

Synonym(s):
- HCHWA, Italian type

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

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

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


COMMON
SIGNS
- Facial pain / cephalalgia / migraine
- Obnubilation / coma / lethargia / desorientation
- Seizures / epilepsy / absences / spasms / status epilepticus
- Transient cerebral ischemia / stroke


Takayasu arteritis
Hereditary cerebral hemorrhage with amyloidosis, Italian type

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
- Gangrena / necrosis
- Muscle weakness / flaccidity
- Myalgia / muscular pain
- Pulmonary hypertension
- Respiratory rhythm disorder
- Thoracic / chest pain
- Visual loss / blindness / amblyopia

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


Very frequent
- Autosomal dominant inheritance
- Intracranial / cerebral / meningeal hemorrhage

Frequent
- Psychic / psychomotor regression / dementia / intellectual decline