Details of Disease

Disease Name

Autosomal dominant polycystic liver disease

fibrocystic liver disease; congenital hepatic cyst; congenital cystic liver disease; polycystic liver disease; isolated polycystic liver disease; isolated congenital polycystic liver disease; PCLD; ADPLD; AD polycystic liver disease

Definition

An autosomal dominant inherited condition characterized by many cysts of various sizes scattered throughout the liver.

Disease Hierarchy

DIS3HIWD: Autosomal dominant disease

DIS2OMMF: Liver disease

DISJS005: Autosomal dominant polycystic liver disease

Disease Identifiers

MONDO ID

MONDO_0000447

MESH ID

C536330

UMLS CUI

C0158683

MedGen ID

56388

HPO ID

HP:0006557

Orphanet ID

2924

SNOMED CT ID

72925005

General Information of Disease (ID: DISJS005)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ADCY5	TTN64VU	Disputed	Biomarker	[1]
GPBAR1	TTSDVTR	Strong	Altered Expression	[2]
LRP5	TT7VMG4	Strong	GermlineCausalMutation	[3]
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This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
GANAB	DEMWKYT	Limited	Genetic Variation	[4]
PRKCSH	DE073GW	moderate	Biomarker	[5]
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This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ALG8	OTMFG2YY	Limited	Biomarker	[6]
GPLD1	OTUUQOVY	Disputed	Genetic Variation	[1]
SEC61B	OTY1X6A2	Disputed	Genetic Variation	[6]
SIL1	OTDI85I5	Disputed	Genetic Variation	[7]
SEC63	OT1ICPMK	moderate	Biomarker	[8]
ALG9	OT5V9PIR	Strong	Biomarker	[9]
PKD1	OT5ALRZ5	Strong	Biomarker	[9]
PKD2	OTIXBU8H	Strong	Genetic Variation	[10]
PKHD1	OTAH8SMF	Strong	Genetic Variation	[11]
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⏷ Show the Full List of 9 DOT(s)

References

1	Adenylyl cyclase 5 links changes in calcium homeostasis to cAMP-dependent cyst growth in polycystic liver disease.J Hepatol. 2017 Mar;66(3):571-580. doi: 10.1016/j.jhep.2016.10.032. Epub 2016 Nov 5.
2	Bile acid receptors in the biliary tree: TGR5 in physiology and disease.Biochim Biophys Acta Mol Basis Dis. 2018 Apr;1864(4 Pt B):1319-1325. doi: 10.1016/j.bbadis.2017.08.021. Epub 2017 Aug 25.
3	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.
4	A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family.Hum Mutat. 2018 Mar;39(3):378-382. doi: 10.1002/humu.23383. Epub 2018 Jan 24.
5	Everolimus halts hepatic cystogenesis in a rodent model of polycystic-liver-disease.World J Gastroenterol. 2017 Aug 14;23(30):5499-5507. doi: 10.3748/wjg.v23.i30.5499.
6	Genetics of polycystic liver diseases.Curr Opin Gastroenterol. 2019 Mar;35(2):65-72. doi: 10.1097/MOG.0000000000000514.
7	Protein transport into the endoplasmic reticulum: mechanisms and pathologies.Trends Mol Med. 2006 Dec;12(12):567-73. doi: 10.1016/j.molmed.2006.10.004. Epub 2006 Oct 30.
8	Severe Polycystic Liver Disease Is Not Caused by Large Deletions of the PRKCSH Gene.J Clin Lab Anal. 2016 Sep;30(5):431-6. doi: 10.1002/jcla.21875. Epub 2015 Sep 13.
9	ALG9 Mutation Carriers Develop Kidney and Liver Cysts. J Am Soc Nephrol. 2019 Nov;30(11):2091-2102. doi: 10.1681/ASN.2019030298. Epub 2019 Aug 8.
10	Polycystic liver disease: ductal plate malformation and the primary cilium.Trends Mol Med. 2014 May;20(5):261-70. doi: 10.1016/j.molmed.2014.01.003. Epub 2014 Feb 5.
11	Heterozygous Pkhd1(C642*) mice develop cystic liver disease and proximal tubule ectasia that mimics radiographic signs of medullary sponge kidney.Am J Physiol Renal Physiol. 2019 Mar 1;316(3):F463-F472. doi: 10.1152/ajprenal.00181.2018. Epub 2019 Jan 2.