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Acute neonatal citrullinemia type I
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Budd-Chiari syndrome
1 OMIM reference -
2 associated genes
20 signs/symptoms
Acute neonatal citrullinemia type I
Budd-Chiari syndrome

ASS1
(UniProt - OMIM)
 F5
(UniProt - OMIM)
JAK2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ASS1
(0.63)
JAK2


Citations in the biomedical literature:


Acute neonatal citrullinemia type I
ASS1
Budd-Chiari syndrome
F5 JAK2



Acute neonatal citrullinemia type I
Budd-Chiari syndrome

Synonym(s):
- Acute neonatal citrullinemia type 1
- Classic citrullinemia type 1
- Classic citrullinemia type I
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (Orphanet):
- Rare hepatic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the circulatory system -
Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
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:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D006502
Budd-Chiari syndrome

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


Acute neonatal citrullinemia type I

(no data available)