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Budd-Chiari syndrome
1 OMIM reference -
2 associated genes
20 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6
TRAPS syndrome
1 OMIM reference -
1 associated gene
37 signs/symptoms
Budd-Chiari syndrome
TRAPS syndrome

F5
(UniProt - OMIM)
 TNFRSF1A
(UniProt - OMIM)
JAK2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
JAK2
(0.88)
TNFRSF1A


Citations in the biomedical literature:


Budd-Chiari syndrome
F5 JAK2
TRAPS syndrome
TNFRSF1A



Budd-Chiari syndrome
TRAPS syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Autosomal dominant periodic fever
- Familial hibernian fever
- TNF receptor 1 associated periodic syndrome
- Tumor necrosis factor receptor 1 associated periodic syndrome
Classification (Orphanet):
- Rare hepatic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare skin disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Diseases of the circulatory system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: any age
Type of inheritance: multigenic/multifactorial
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: D006502
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Acute abdominal pain / colic
- Fever / chilling
- Intestinal obstruction / ileus
- Malabsorption / chronic diarrhea / steatorrhea
- Peritonitis / peritoneal abscess
- Splenomegaly

Budd-Chiari syndrome
TRAPS syndrome

Very frequent
- Ascitis
- Portal hypertension

Frequent
- Abnormal hepatic enzymes / transaminases
- Cirrhosis
- Esophageal varices
- Hepatocellular liver disease / hepatic failure
- Hepatomegaly / liver enlargement (excluding storage disease)

Occasional
- Acute hepatic failure
- Acute ischemic syndrome
- Biliary / gallbladder stones / lithiasis / cholecystitis
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Hepatitis / icterus / cholestasis
- Mesenteric / intestinal infarction
- Weight loss / loss of appetite / break in weight curve / general health alteration


Very frequent
- Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP
- Cutaneous rash
- Erysipela
- Macules
- Myalgia / muscular pain
- Pericardium anomalies / pericarditis / absence / cysts / pericardial effusion

Frequent
- Abnormal pleura / hydrothorax / pleuresia / pleural effusion / chylothorax
- Arthritis / synovitis / synovial proliferation
- Constipation
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Hyperleukocytosis / leukocytosis
- Lymphadenopathy / polyadenopathies
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Testes inflammation / orchitis

Occasional
- Articular / joint pain / arthralgia
- Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Cranial nerves palsy
- Dizziness
- Ecchymoses
- Facial pain / cephalalgia / migraine
- Fasciitis
- Follicular / erythematous / edematous papules / milium
- Myocardium anomalies / myocarditis
- Myositis
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Pharyngitis
- Psychic / behavioural troubles
- Sacroiliac joints anomalies
- Thoracic / chest pain
- Vascularitis / vasculitides / arteritis