Details of Disease

General Information of Disease (ID: DISGG52B)

• Disease Name: Cirrhosis, familial
• Synonyms: cirrhosis, familial, with pulmonary hypertension; endemic Tyrolean infantile cirrhosis; cirrhosis, cryptogenic; copper toxicosis, idiopathic; Indian childhood cirrhosis; Sen syndrome; cirrhosis, Noncryptogenic, susceptibility to; copper-overload cirrhosis; cirrhosis, familial; cryptogenic cirrhosis; hereditary cirrhosis of liver
• Definition: Cirrhosis in which no causative agent can be identified.
• Disease Hierarchy:
  DISLXQHV: Telomere syndrome
  DISYKSRF: Genetic disease
  DIS4G1GX: Liver cirrhosis
  DISGG52B: Cirrhosis, familial
• Disease Identifiers:
  MONDO ID: MONDO_0007329
  MESH ID: C566123
  UMLS CUI: C1861556
  OMIM ID: 118900
  MedGen ID: 350049

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
UTP4	OTVAJOH3	Disputed	Autosomal recessive	[1]
KRT18	OTVLQFIP	Limited	Autosomal recessive	[2]
KRT8	OTTM4X11	Limited	Unknown	[3]

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.
• [2] Chronic hepatitis, hepatocyte fragility, and increased soluble phosphoglycokeratins in transgenic mice expressing a keratin 18 conserved arginine mutant. J Cell Biol. 1995 Dec;131(5):1303-14. doi: 10.1083/jcb.131.5.1303.
• [3] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.