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1 OMIM reference -
10 associated genes
67 signs/symptoms
PROTEIN INTERACTIONS: 3
Behçet disease
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency

C4A IL12RB1
HLA-B
IL10
IL12RB2
IL23R
MEFV
NOD2
STAT4
TLR4
UBAC2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
IL23R
STAT4
IL12RB2
(0.74)
(0.62)
(0.55)
IL12RB1
IL12RB1
IL12RB1



Citations in the biomedical literature:


Behçet disease
C4A HLA-B IL10 IL12RB2 IL23R MEFV
NOD2 STAT4 TLR4 UBAC2
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1



Behçet disease
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 eye disease
- Rare neurologic disease
- Rare renal disease
- Rare skin 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 / 100 000
Average age onset: variable
Average age of death: adult
Type of inheritance: multigenic/multifactorial
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: D001528
External references:
No OMIM references
No MeSH references

Behçet disease

Very frequent
- Arthritis / synovitis / synovial proliferation
- Asthenia / fatigue / weakness
- Enanthema / aphtosa / aphta / leukoplakia
- Facial pain / cephalalgia / migraine
- Fever / chilling
- Follicular / erythematous / edematous papules / milium
- Meningitis / meningeal syndrome
- Myalgia / muscular pain
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Photophobia
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Testes inflammation / orchitis
- Vascularitis / vasculitides / arteritis

Frequent
- Abnormal gait
- Acne / acnea
- Acute abdominal pain / colic
- Articular / joint pain / arthralgia
- Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Obnubilation / coma / lethargia / desorientation
- Severe allergic reaction / atopy
- Venous thrombosis / phlebitis / thrombophlebitis
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Occasional
- Abnormal pleura / hydrothorax / pleuresia / pleural effusion / chylothorax
- Angor pectoris / myocardial infarction
- Anorexia
- Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid
- Arterial embolism / thrombosis
- Ataxia / incoordination / trouble of the equilibrium
- Cataract / lens opacification
- Cranial hypertension
- Cranial nerves palsy
- Dizziness
- Early death / lethality
- Encephalitis
- Endocardium anomalies / fibroelastosis / endocarditis
- Gangrena / necrosis
- Hemoptysis
- Hypereflexia
- Intestinal perforation
- Lung / pulmonary infiltrates
- Lymphadenopathy / polyadenopathies
- Malabsorption / chronic diarrhea / steatorrhea
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Myocardium anomalies / myocarditis
- Myositis
- Neuritis / polyneuritis / multineuritis
- Osteonecrosis / bone infarction
- Pancreatitis
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Pericardium anomalies / pericarditis / absence / cysts / pericardial effusion
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline
- Pulmonary thromboembolism
- Pyramidal syndrome
- Renal failure
- Renal glomerular defect / glomerulopathy
- Retinopathy
- Retrobulbar optic neuritis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Splenomegaly
- Transient cerebral ischemia / stroke
- Troubles of memory / amnesia / hypermnesia
- Visual loss / blindness / amblyopia
- Weight loss / loss of appetite / break in weight curve / general health alteration
- Xerophthalmia / dry eyes


Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency

(no data available)