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1 OMIM reference -
2 associated genes
20 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
14 signs/symptoms
Budd-Chiari syndrome
Growth delay due to insulin-like growth factor I resistance

F5 IGF1R
JAK2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
JAK2
(0.62)
IGF1R



Citations in the biomedical literature:


Budd-Chiari syndrome
F5 JAK2
Growth delay due to insulin-like growth factor I resistance
IGF1R



Budd-Chiari syndrome
Growth delay due to insulin-like growth factor I resistance

Synonym(s):
(no synonyms)

Synonym(s):
- Resistance to IGF-1

Classification (Orphanet):
- Rare hepatic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic 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: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant

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

Budd-Chiari syndrome
Growth delay due to insulin-like growth factor I resistance

Very frequent
- Ascitis
- Portal hypertension
- Splenomegaly

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
- 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
- Autosomal dominant inheritance
- Autosomal recessive inheritance
- Chromosomal or genetic anomaly
- Intrauterine growth retardation
- Short stature / dwarfism / nanism

Frequent
- Abnormally placed nipples
- Broad nasal root
- Everted lower lip
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Pectus excavatum
- Philtrum flat / large / featureless / absent cupidon bows
- Short hand / brachydactyly
- Thin / retracted lips