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1 OMIM reference -
10 associated genes
67 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 8
1 OMIM reference -
1 associated gene
18 signs/symptoms
Behçet disease
Pyogenic arthritis - pyoderma gangrenosum - acne

C4A PSTPIP1
HLA-B
IL10
IL12RB2
IL23R
MEFV
NOD2
STAT4
TLR4
UBAC2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MEFV
(0.65)
PSTPIP1



Citations in the biomedical literature:


Behçet disease
C4A HLA-B IL10 IL12RB2 IL23R MEFV
NOD2 STAT4 TLR4 UBAC2
Pyogenic arthritis - pyoderma gangrenosum - acne
PSTPIP1



Behçet disease
Pyogenic arthritis - pyoderma gangrenosum - acne

Synonym(s):
(no synonyms)

Synonym(s):
- FRA
- Familial recurrent arthritis
- PAPA syndrome

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
- Rare skin 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 / 100 000
Average age onset: variable
Average age of death: adult
Type of inheritance: multigenic/multifactorial
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: D001528
External references:
1 OMIM reference -
No MeSH references


COMMON
SIGNS
- Acne / acnea
- Arthritis / synovitis / synovial proliferation
- Articular / joint pain / arthralgia
- Asthenia / fatigue / weakness
- Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP
- Fever / chilling
- Lymphadenopathy / polyadenopathies
- Myositis


Behçet disease
Pyogenic arthritis - pyoderma gangrenosum - acne

Very frequent
- Enanthema / aphtosa / aphta / leukoplakia
- Facial pain / cephalalgia / migraine
- 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
- Acute abdominal pain / colic
- 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
- Malabsorption / chronic diarrhea / steatorrhea
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Myocardium anomalies / myocarditis
- 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


Very frequent
- Autosomal dominant inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Pustula / pustulosis
- Restricted joint mobility / joint stiffness / ankylosis

Frequent
- Monoclonal immunoglobulins / gammapathy / dysglobulinemia

Occasional
- Bone marrow failure / pancytopenia
- Functional colopathy / irritable bowel syndrome
- Furuncle / cutaneous abscess / hidrosadenitis suppurativa
- Insulin-dependent / type 1 diabetes
- Proteinuria