Details of Disease | DrugMAP

General Information of Disease (ID: DISGPJDM)

Disease Name	Infantile liver failure syndrome 2
Synonyms	infantile liver failure caused by mutation in NBAS; infantile liver failure syndrome type 2; NBAS infantile liver failure; infantile liver failure syndrome 2; ILFS2
Definition	Any infantile liver failure in which the cause of the disease is a mutation in the NBAS gene.
Disease Hierarchy	DIS8JQTA: Infantile liver failure DISGPJDM: Infantile liver failure syndrome 2
Disease Identifiers	MONDO ID MONDO_0014659 UMLS CUI C3809651 OMIM ID 616483 MedGen ID 815981

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
MARS1	DE0K52I	Strong	Genetic Variation	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RINT1	OTMO19ZD	Supportive	Autosomal recessive	[2]
NBAS	OTW9IBRI	Definitive	Autosomal recessive	[3]
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References

1	Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child.Mol Genet Metab. 2019 Jan;126(1):77-82. doi: 10.1016/j.ymgme.2018.12.002. Epub 2018 Dec 11.
2	RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities. Am J Hum Genet. 2019 Jul 3;105(1):108-121. doi: 10.1016/j.ajhg.2019.05.011. Epub 2019 Jun 13.
3	Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy. Am J Hum Genet. 2015 Jul 2;97(1):163-9. doi: 10.1016/j.ajhg.2015.05.009. Epub 2015 Jun 11.