Details of Disease

General Information of Disease (ID: DIS52T2A)

• Disease Name: Polycystic liver disease 1
• Synonyms: PCLD; isolated autosomal dominant polycystic liver disease; autosomal dominant polycystic liver disease; ADPCLD; polycystic liver disease; isolated polycystic liver disease; isolated congenital polycystic liver disease; polycystic liver disease 1; PCLD1; polycystic liver disease 1 with or without kidney cysts; nonsyndromic polycystic liver disease (disease); nonsyndromic congenital polycystic liver disease
• Definition: A polycystic liver disease in which the cause of the disease is a mutation in the PRKCSH gene, and is characterized by the appearance of numerous cysts spread throughout the liver.
• Disease Hierarchy:
  DISJS005: Autosomal dominant polycystic liver disease
  DIS52T2A: Polycystic liver disease 1
• Disease Identifiers:
  MONDO ID: MONDO_0008265
  MESH ID: D016891
  UMLS CUI: C0887850
  OMIM ID: 174050
  MedGen ID: 165781
  SNOMED CT ID: 253878003

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
UCP2	TTSC2YM	Limited	Biomarker	[1]
LRP5	TT7VMG4	Supportive	Autosomal dominant	[2]
BRD4	TTSRAOU	Strong	Biomarker	[3]
MYC	TTNQ5ZP	Strong	Biomarker	[3]

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PRKCSH	DE073GW	Strong	Biomarker	[4]
PRKCSH	DE073GW	Definitive	Autosomal dominant	[5]

This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LRP5	OTCC4JPH	Supportive	Autosomal dominant	[2]
SEC63	OT1ICPMK	Supportive	Autosomal dominant	[6]
SEC61B	OTY1X6A2	Moderate	Autosomal dominant	[7]
ANKS6	OT6DXD3Q	Strong	Biomarker	[8]
PKD1	OT5ALRZ5	Strong	Biomarker	[9]
PKD2	OTIXBU8H	Strong	Biomarker	[10]
PRKCSH	OTJCQYUU	Definitive	Autosomal dominant	[5]

References

• [1] The mitochondrial uncoupling protein 2 gene is causal for the spontaneous polycystic liver diseases in mice.Mitochondrion. 2018 Sep;42:50-53. doi: 10.1016/j.mito.2017.10.011. Epub 2017 Nov 14.
• [2] Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis. Proc Natl Acad Sci U S A. 2014 Apr 8;111(14):5343-8. doi: 10.1073/pnas.1309438111. Epub 2014 Mar 24.
• [3] Therapeutic targeting of BET bromodomain protein, Brd4, delays cyst growth in ADPKD.Hum Mol Genet. 2015 Jul 15;24(14):3982-93. doi: 10.1093/hmg/ddv136. Epub 2015 Apr 15.
• [4] Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease.Nat Genet. 2003 Mar;33(3):345-7. doi: 10.1038/ng1104. Epub 2003 Feb 10.
• [5] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
• [6] Polycystic liver disease: an overview of pathogenesis, clinical manifestations and management. Orphanet J Rare Dis. 2014 May 1;9:69. doi: 10.1186/1750-1172-9-69.
• [7] 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.
• [8] Altered expression pattern of polycystin-2 in acute and chronic renal tubular diseases.J Am Soc Nephrol. 2002 Jul;13(7):1855-64. doi: 10.1097/01.asn.0000018402.33620.c7.
• [9] Histone deacetylase 6 inhibition reduces cysts by decreasing cAMP and Ca(2+) in knock-out mouse models of polycystic kidney disease.J Biol Chem. 2017 Oct 27;292(43):17897-17908. doi: 10.1074/jbc.M117.803775. Epub 2017 Sep 8.
• [10] The TRPP2-dependent channel of renal primary cilia also requires TRPM3.PLoS One. 2019 Mar 18;14(3):e0214053. doi: 10.1371/journal.pone.0214053. eCollection 2019.