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1 OMIM reference -
10 associated genes
67 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 15
1 OMIM reference -
1 associated gene
43 signs/symptoms
Behçet disease
Blau syndrome

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


COMMON
GENES
NOD2



Citations in the biomedical literature:


Behçet disease
C4A HLA-B IL10 IL12RB2 IL23R MEFV
NOD2 STAT4 TLR4 UBAC2
Blau syndrome



Behçet disease
Blau syndrome

Classification (Orphanet):
- Rare eye disease
- Rare neurologic disease
- Rare renal disease
- Rare skin disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare immune disease
- Rare respiratory 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: neonatal/infancy
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
- Arthritis / synovitis / synovial proliferation
- Articular / joint pain / arthralgia
- Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP
- Cataract / lens opacification
- Fever / chilling
- Follicular / erythematous / edematous papules / milium
- Lymphadenopathy / polyadenopathies
- Pericardium anomalies / pericarditis / absence / cysts / pericardial effusion
- Photophobia
- Renal failure
- Retinopathy
- Retrobulbar optic neuritis
- Splenomegaly
- Vascularitis / vasculitides / arteritis
- Visual loss / blindness / amblyopia


Behçet disease
Blau syndrome

Very frequent
- Asthenia / fatigue / weakness
- Enanthema / aphtosa / aphta / leukoplakia
- Facial pain / cephalalgia / migraine
- Meningitis / meningeal syndrome
- Myalgia / muscular pain
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Testes inflammation / orchitis

Frequent
- Abnormal gait
- Acne / acnea
- 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
- 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
- Myositis
- Neuritis / polyneuritis / multineuritis
- Osteonecrosis / bone infarction
- Pancreatitis
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline
- Pulmonary thromboembolism
- Pyramidal syndrome
- Renal glomerular defect / glomerulopathy
- Seizures / epilepsy / absences / spasms / status epilepticus
- Transient cerebral ischemia / stroke
- Troubles of memory / amnesia / hypermnesia
- Weight loss / loss of appetite / break in weight curve / general health alteration
- Xerophthalmia / dry eyes


Very frequent
- Autosomal dominant inheritance
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Cutaneous rash
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Hydrarthrosis / articular / joint effusion
- Macules
- Restricted joint mobility / joint stiffness / ankylosis

Frequent
- Camptodactyly of fingers
- Dry / squaly skin / exfoliation
- Glaucoma

Occasional
- Anaemia
- Anomaly / ectopia / hypoplasia / atresia of salivary glands / salivary duct
- Aortic root dilatation / dilation / aneurysm
- Central neuropathy
- Choroidal anomalies / atrophy / choroideremia
- Chronic arterial hypertension
- Chronic skin infection / ulcerations / ulcers / cancrum
- Facial palsy
- Functional anomalies of the liver and the biliary tract
- Ichthyosis / ichthyosiform dermatitis
- Interstitial nephropathy
- Kidney / renal neoplasm / tumor / carcinoma / cancer
- Mouth dryness / xerostomia
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Pulmonary hypertension
- Purpura / petichiae
- Renal disease / nephropathy
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction