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1 OMIM reference -
2 associated genes
20 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 associated gene
11 signs/symptoms
Budd-Chiari syndrome
Cutaneous mastocytoma

F5 KIT
JAK2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
JAK2
(0.85)
KIT



Citations in the biomedical literature:


Budd-Chiari syndrome
F5 JAK2
Cutaneous mastocytoma
KIT



Budd-Chiari syndrome
Cutaneous mastocytoma

Synonym(s):
(no synonyms)

Synonym(s):
- Cutaneous local mastocytoma
- Multiple mastocytoma
- Solitary mastocytoma

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

Classification (ICD10):
- Diseases of the circulatory system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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: variable
Average age of death: normal
Type of inheritance: sporadic

External references:
1 OMIM reference -
1 MeSH reference: D006502
External references:
No OMIM references
1 MeSH reference: D054705


COMMON
SIGNS
- Acute abdominal pain / colic


Budd-Chiari syndrome
Cutaneous mastocytoma

Very frequent
- Ascitis
- Portal hypertension
- Splenomegaly

Frequent
- Abnormal hepatic enzymes / transaminases
- Cirrhosis
- Esophageal varices
- Fever / chilling
- 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
- Intestinal obstruction / ileus
- Malabsorption / chronic diarrhea / steatorrhea
- Mesenteric / intestinal infarction
- Peritonitis / peritoneal abscess
- Weight loss / loss of appetite / break in weight curve / general health alteration


Very frequent
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Macules
- Mastocytosis
- Pruritus / itching
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Urticaria
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Thick skin / pachydermia / orange skin

Occasional
- Facial pain / cephalalgia / migraine
- Hot flushes / sensation of cold