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1 OMIM reference -
10 associated genes
67 signs/symptoms
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 10
4 OMIM references -
3 associated genes
26 signs/symptoms
Behçet disease
Familial thrombocytosis

C4A JAK2
HLA-B MPL
IL10 THPO
IL12RB2
IL23R
MEFV
NOD2
STAT4
TLR4
UBAC2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
IL12RB2
IL23R
(0.79)
(0.55)
JAK2
JAK2



Citations in the biomedical literature:


Behçet disease
C4A HLA-B IL10 IL12RB2 IL23R MEFV
NOD2 STAT4 TLR4 UBAC2
Familial thrombocytosis
JAK2 MPL THPO



Behçet disease
Familial thrombocytosis

Synonym(s):
(no synonyms)

Synonym(s):
- Familial thrombocythemia
- Hereditary thrombocythemia

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 hematologic 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: unknown
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Arterial embolism / thrombosis
- Dizziness
- Early death / lethality
- Facial pain / cephalalgia / migraine
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Seizures / epilepsy / absences / spasms / status epilepticus
- Splenomegaly
- Transient cerebral ischemia / stroke
- Venous thrombosis / phlebitis / thrombophlebitis
- Weight loss / loss of appetite / break in weight curve / general health alteration


Behçet disease
Familial thrombocytosis

Very frequent
- Arthritis / synovitis / synovial proliferation
- Asthenia / fatigue / weakness
- Enanthema / aphtosa / aphta / leukoplakia
- 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
- 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
- Ataxia / incoordination / trouble of the equilibrium
- Cataract / lens opacification
- Cranial hypertension
- Cranial nerves palsy
- 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
- 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
- Troubles of memory / amnesia / hypermnesia
- Visual loss / blindness / amblyopia
- Xerophthalmia / dry eyes


Very frequent
- Autosomal dominant inheritance
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Platelet disorders / thrombopathies
- Platelets shape anomalies

Frequent
- Acute ischemia of the lower limbs
- Acute ischemic syndrome
- Hyperhidrosis / increased sweating
- Pruritus / itching
- Thoracic / chest pain

Occasional
- Abnormal visual field / hemianopsia / hemianopia / scotoma / visual peripheral rim
- Acute leukemia
- Elocution disorders / dysarthria / dysphonia
- Myelodysplastic syndrome
- Myeloproliferative syndrome / chronic leukemia
- Pulmonary hypertension
- Spontaneous abortions