Details of Disease | DrugMAP

General Information of Disease (ID: DISFONJI)

Disease Name	Infantile liver failure syndrome 1
Synonyms	acute infantile liver failure - multisystemic involvement syndrome; ILFS1; LARS infantile liver failure; infantile liver failure syndrome type 1; infantile liver failure syndrome 1; infantile liver failure caused by mutation in Lars; Lars infantile liver failure; infantile liver failure caused by mutation in LARS
Definition	Any infantile liver failure in which the cause of the disease is a mutation in the LARS gene.
Disease Hierarchy	DIS8JQTA: Infantile liver failure DISFONJI: Infantile liver failure syndrome 1
Disease Identifiers	MONDO ID MONDO_0024568 UMLS CUI C3809522 OMIM ID 615438 MedGen ID 815852 Orphanet ID 370088

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LARS1	OT4557NF	Strong	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Identification of a mutation in LARS as a novel cause of infantile hepatopathy. Mol Genet Metab. 2012 Jul;106(3):351-8. doi: 10.1016/j.ymgme.2012.04.017. Epub 2012 Apr 26.