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infantile liver failure syndrome 1

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description Any infantile liver failure in which the cause of the disease is a mutation in the LARS gene.
Uniprot Description A life-threatening disorder of hepatic function that manifests with acute liver failure in the first few months of life. Clinical features include anemia, renal tubulopathy, developmental delay, seizures, failure to thrive, and liver steatosis and fibrosis.
Mondo Term and Equivalent IDs
MONDO:0024568:  infantile liver failure syndrome 1
GARD:0013114: 
Orphanet:370088: 
UMLS:C3809522: