Details of Disease

General Information of Disease (ID: DISRYQ0I)

• Disease Name: Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
• Synonyms: acute infantile liver failure; liver failure, transient infantile; acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins; infantile liver failure caused by mutation in TRMU; liver failure, infantile, transient; TRMU infantile liver failure; LFIT; acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins; transient infantile liver failure
• Definition: Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia.|Editor note: add transient course
• Disease Hierarchy:
  DIS8JQTA: Infantile liver failure
  DIS5EZKX: Acute liver failure
  DISK7IP8: Mitochondrial oxidative phosphorylation disorder
  DISRYQ0I: Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
• Disease Identifiers:
  MONDO ID: MONDO_0013111
  UMLS CUI: C3278664
  OMIM ID: 613070
  MedGen ID: 480294
  Orphanet ID: 217371

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TRMU	OTJ1KXM7	Strong	Autosomal recessive	[1]

References

• [1] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.