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4 OMIM references -
3 associated genes
26 signs/symptoms
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3
1 OMIM reference -
2 associated genes
20 signs/symptoms
Familial thrombocytosis
Budd-Chiari syndrome

JAK2 F5
MPL JAK2
THPO


COMMON
GENES
JAK2


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Familial thrombocytosis
JAK2 MPL THPO
Budd-Chiari syndrome
F5



Familial thrombocytosis
Budd-Chiari syndrome

Synonym(s):
- Familial thrombocythemia
- Hereditary thrombocythemia

Synonym(s):
(no synonyms)

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

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the circulatory system -

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: any age
Type of inheritance: multigenic/multifactorial

External references:
4 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D006502


COMMON
SIGNS
- Acute ischemic syndrome
- Splenomegaly
- Weight loss / loss of appetite / break in weight curve / general health alteration


Familial thrombocytosis
Budd-Chiari syndrome

Very frequent
- Arterial embolism / thrombosis
- Autosomal dominant inheritance
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Platelet disorders / thrombopathies
- Platelets shape anomalies
- Venous thrombosis / phlebitis / thrombophlebitis

Frequent
- Acute ischemia of the lower limbs
- Facial pain / cephalalgia / migraine
- Hyperhidrosis / increased sweating
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Pruritus / itching
- Thoracic / chest pain
- Transient cerebral ischemia / stroke

Occasional
- Abnormal visual field / hemianopsia / hemianopia / scotoma / visual peripheral rim
- Acute leukemia
- Dizziness
- Early death / lethality
- Elocution disorders / dysarthria / dysphonia
- Myelodysplastic syndrome
- Myeloproliferative syndrome / chronic leukemia
- Pulmonary hypertension
- Seizures / epilepsy / absences / spasms / status epilepticus
- Spontaneous abortions


Very frequent
- Ascitis
- Portal hypertension

Frequent
- Abnormal hepatic enzymes / transaminases
- Acute abdominal pain / colic
- Cirrhosis
- Esophageal varices
- Fever / chilling
- Hepatocellular liver disease / hepatic failure
- Hepatomegaly / liver enlargement (excluding storage disease)

Occasional
- Acute hepatic failure
- Biliary / gallbladder stones / lithiasis / cholecystitis
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Hepatitis / icterus / cholestasis
- Intestinal obstruction / ileus
- Malabsorption / chronic diarrhea / steatorrhea
- Mesenteric / intestinal infarction
- Peritonitis / peritoneal abscess