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1 OMIM reference -
10 associated genes
67 signs/symptoms
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 3
1 OMIM reference -
1 associated gene
38 signs/symptoms
Behçet disease
Autosomal dominant hyper-IgE syndrome

C4A STAT3
HLA-B
IL10
IL12RB2
IL23R
MEFV
NOD2
STAT4
TLR4
UBAC2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
STAT4
IL23R
(0.59)
(0.55)
STAT3
STAT3



Citations in the biomedical literature:


Behçet disease
C4A HLA-B IL10 IL12RB2 IL23R MEFV
NOD2 STAT4 TLR4 UBAC2
Autosomal dominant hyper-IgE syndrome
STAT3



Behçet disease
Autosomal dominant hyper-IgE syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- AD-HIES
- Autosomal dominant HIES
- Autosomal dominant hyperimmunoglobulin E syndrome
- Buckley syndrome
- Hyperimmunoglobulin E syndrome type 1
- Hyperimmunoglobulin E-recurrent infection syndrome
- Job 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

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: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Fever / chilling
- Follicular / erythematous / edematous papules / milium
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment


Behçet disease
Autosomal dominant hyper-IgE syndrome

Very frequent
- Arthritis / synovitis / synovial proliferation
- Asthenia / fatigue / weakness
- Enanthema / aphtosa / aphta / leukoplakia
- Facial pain / cephalalgia / migraine
- 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

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


Very frequent
- Anomalies of skin, subcutaneous tissue and mucosae
- Anomalies of the immunitary system
- Atelectasia / pulmonary collapse
- Autosomal dominant inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Cutaneous rash
- Eczema
- Ground-glass / reticular / alveolar / interstitial lung / pulmonary opacity
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Pruritus / itching
- Repeat respiratory infections

Frequent
- Anomalies of teeth and dentition
- Broad nose / nasal bridge
- Chronic / relapsing otitis
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Cough
- Deepset eyes / enophthalmos
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Dysplastic / thick / grooved fingernails
- Eosinophils anomalies / hypereosinophilia
- Face / facial anomalies
- Frontal bossing / prominent forehead
- Gingivitis
- Hair and scalp anomalies
- Hyperextensible joints / articular hyperlaxity
- Mutiple fractures / bone fragility
- Onyxis / paronyxis / ungual inflammation
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Scoliosis

Occasional
- Arterial aneurism (excluding aorta)
- Autosomal recessive inheritance
- Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue
- Craniostenosis / craniosynostosis / sutural synostosis
- Lymphoma
- Osteomyelitis / osteitis / periostitis / spondylodisciitis