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1 OMIM reference -
2 associated genes
20 signs/symptoms
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6
1 OMIM reference -
3 associated genes
25 signs/symptoms
Budd-Chiari syndrome
Polycythemia vera

F5 JAK2
JAK2 MPL
TET2


COMMON
GENES
JAK2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
JAK2
(0.66)
MPL



Citations in the biomedical literature:


Budd-Chiari syndrome
F5 JAK2
Polycythemia vera
MPL TET2



Budd-Chiari syndrome
Polycythemia vera

Synonym(s):
(no synonyms)

Synonym(s):
- Acquired primary erythocytosis
- Erythremia
- Osler-Vaquez disease
- PV
- Polycythemia rubra vera
- Vaquez disease

Classification (Orphanet):
- Rare hepatic disease
Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease

Classification (ICD10):
- Diseases of the circulatory system -
Classification (ICD10):
- Neoplasms -

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: 1-5 / 10 000
Average age onset: variable
Average age of death: normal
Type of inheritance: sporadic

External references:
1 OMIM reference -
1 MeSH reference: D006502
External references:
1 OMIM reference -
1 MeSH reference: D011087


COMMON
SIGNS
- Acute abdominal pain / colic
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Hepatomegaly / liver enlargement (excluding storage disease)
- Portal hypertension
- Splenomegaly
- Weight loss / loss of appetite / break in weight curve / general health alteration


Budd-Chiari syndrome
Polycythemia vera

Very frequent
- Ascitis

Frequent
- Abnormal hepatic enzymes / transaminases
- Cirrhosis
- Esophageal varices
- Fever / chilling
- Hepatocellular liver disease / hepatic failure

Occasional
- Acute hepatic failure
- Acute ischemic syndrome
- Biliary / gallbladder stones / lithiasis / cholecystitis
- Hepatitis / icterus / cholestasis
- Intestinal obstruction / ileus
- Malabsorption / chronic diarrhea / steatorrhea
- Mesenteric / intestinal infarction
- Peritonitis / peritoneal abscess


Very frequent
- Acute leukemia
- Angor pectoris / myocardial infarction
- Chronic arterial hypertension
- Dizziness
- Ecchymoses
- Epistaxis / nose bleeding
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Facial pain / cephalalgia / migraine
- Gingivorrhagia / gingival bleeding
- Myelodysplastic syndrome
- Tinnitus

Frequent
- Articular / joint pain / arthralgia
- Asthenia / fatigue / weakness
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction

Occasional
- Arterial embolism / thrombosis
- Claudication / pain on mastication / while chewing
- Pruritus / itching
- Transient cerebral ischemia / stroke
- Venous thrombosis / phlebitis / thrombophlebitis