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Takayasu arteritis
1 OMIM reference -
3 associated genes
41 signs/symptoms
PROTEIN INTERACTIONS: 1
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
1 associated gene
No signs/symptoms info
Takayasu arteritis
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency

HLA-B
(UniProt - OMIM)
 IL12RB1
(UniProt - OMIM)
IL12B
(UniProt - OMIM)
MLX
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
IL12B
(0.69)
IL12RB1


Citations in the biomedical literature:


Takayasu arteritis
HLA-B IL12B MLX
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1



Takayasu arteritis
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency

Synonym(s):
(no synonyms)

Synonym(s):
- MSMD due to complete IL12RB1 deficiency
- MSMD due to complete interleukin 12 receptor beta 1 deficiency
- Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency
Classification (Orphanet):
- Rare circulatory system disease
- Rare renal disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: adult
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: D013625
External references:
No OMIM references
No MeSH references
Takayasu arteritis

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


Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency

(no data available)