Polycystic Liver Disease malady

NIH Rare Diseases: Polycystic liver disease is an inherited condition characterized by many cysts of various sizes scattered throughout the liver. Abdominal discomfort from swelling of the liver may occur; however, most affected individuals do not have any symptoms. In some cases, polycystic liver disease appears to occur randomly, with no apparent cause. Most cases are inherited in an autosomal dominant fashion. Sometimes, cysts are found in the liver in association with the presence of autosomal dominant polycystic kidney disease (AD-PKD). In fact, about half of the people who have AD-PKD experience liver cysts. However, kidney cysts are uncommon in those affected by polycystic liver disease.³⁰

MalaCards: Polycystic Liver Disease, also known as PCLD, is related to polycystic kidney disease and polycystic kidney disease, autosomal dominant. An important gene associated with Polycystic Liver Disease is PRKCSH (protein kinase C substrate 80K-H), and among its related pathways are Protein export and Protein processing in endoplasmic reticulum. The compounds trp-p-2 and tween have been mentioned in the context of this disorder. Affiliated tissues include kidney and liver.

Wikipedia: Polycystic liver disease (PLD) usually describes the presence of multiple cysts scattered throughout...⁴⁴ more...

OMIM: 174050

polycystic liver disease 7 30 16 33 32 43 pcld 30 16

isolated autosomal dominant polycystic liver disease 30 isolated polycystic liver disease 30

Diseases related to polycystic liver disease by text searches and GeneDecks gene sharing:

(show top 50)    (show all 65)

id	Related Disease	Score	Top Affiliating Genes
1	polycystic kidney disease	29.5	PKD1, PKHD1
2	polycystic kidney disease, autosomal dominant	13.4	PKD1, PKD2
3	nephronophthisis	13.4	PKD1, PKD2
4	polycystic kidney disease 2, autosomal dominant	13.3	PKD2, PKD1
5	auditory system disease	13.2	PKD1, PKD2
6	chorioangioma	13.0	ANGPT2, ANGPT1
7	placenta accreta	12.8	ANGPT2, TEK
8	cystic kidney	12.8	PKHD1, PKD2, PKD1
9	chronic myocardial ischemia	12.8	TEK, ANGPT1
10	polycystic kidney disease, autosomal recessive	12.6	PKD2, PKD1, PKHD1, PRKCSH
11	retinopathy of prematurity	12.4	ANGPT2, TEK, ANGPT1
12	ulceration of vulva	12.4	TEK, ANGPT1, ANGPT2
13	angiosarcoma	12.4	ANGPT1, ANGPT2, TEK
14	renal clear cell carcinoma	12.3	ANGPT2, ANGPT1, TEK
15	critical limb ischemia	12.3	TEK, ANGPT2
16	vascular malformations	12.3	TEK, ANGPT1
17	retinal disease	12.3	ANGPT1, TEK, ANGPT2
18	goiter	12.3	TEK, ANGPT2, ANGPT1
19	hemangioma	12.2	ANGPT1, ANGPT2, TEK
20	lipodermatosclerosis	12.2	PCNA, ANGPT2, ANGPT1
21	gingival overgrowth	12.2	ANGPT1, ANGPT2, PCNA
22	gallbladder carcinoma	12.1	PCNA, ANGPT2, EPCAM
23	congestive heart failure	12.1	TEK, ANGPT1, ANGPT2
24	cholangitis	12.0	PKHD1, PCNA, EPCAM
25	li-fraumeni syndrome	12.0	TEK, ANGPT2, PCNA
26	venous malformations	12.0	PCNA, ANGPT1, TEK
27	combined immunodeficiency	12.0	EPCAM, ANGPT2, PCNA
28	pancreatic ductal carcinoma	11.9	PCNA, ANGPT2, ANGPT1
29	gastric ulcer	11.9	PCNA, TEK, ANGPT1
30	vascular disease	11.9	TEK, ANGPT2, ANGPT1
31	severe combined immunodeficiency	11.9	PCNA, EPCAM, ANGPT2
32	non-small cell lung carcinoma	11.9	PCNA, ANGPT1, TEK
33	nephropathy	11.7	PKD1, ANGPT1, PCNA, PKD2, PRKCSH
34	gastrointestinal stromal tumor	11.6	TEK, PCNA, ANGPT2, ANGPT1
35	endometrial adenocarcinoma	11.6	PCNA, ANGPT2, ANGPT1, TEK
36	papillary thyroid carcinoma	11.5	ANGPT1, PCNA, TEK, ANGPT2
37	leiomyoma	11.5	ANGPT1, TEK, ANGPT2, PCNA
38	laryngeal carcinoma	11.5	ANGPT2, PCNA, EPCAM
39	myelodysplastic syndrome	11.4	TEK, ANGPT2, ANGPT1, PCNA
40	laryngitis	11.4	EPCAM, ANGPT1, ANGPT2, PCNA
41	bartter disease	11.4	PCNA, ANGPT2, ANGPT1, TEK
42	kaposi's sarcoma	11.4	ANGPT1, TEK, PCNA, ANGPT2
43	thyroid cancer	11.4	ANGPT2, PCNA, TEK, ANGPT1
44	choroiditis	11.4	ANGPT2, ANGPT1, PCNA, TEK
45	endometrial carcinoma	11.3	ANGPT2, TEK, PCNA, ANGPT1
46	renal cell carcinoma	11.1	PCNA, ANGPT1, TEK, ANGPT2, EPCAM
47	thyroid carcinoma	11.1	PCNA, ANGPT2, ANGPT1, TEK, EPCAM
48	squamous cell carcinoma	11.0	ANGPT2, EPCAM, TEK, ANGPT1, PCNA
49	lung carcinoma	11.0	PCNA, ANGPT1, TEK, ANGPT2, EPCAM
50	ischemia	11.0	TEK, PCNA, ANGPT2, ANGPT1, PKD2, PKD1

Clinical features from OMIM: 174050

Approved drugs:

Drug clinical trials:

Genetic tests related to polycystic liver disease:

id	Genetic test	Affiliating Genes
1	Polycystic Liver Disease clinical/research	SEC63, PLD1, PRKCSH

MalaCards organs/tissues related to polycystic liver disease:

²²

Articles related to polycystic liver disease:

(show all 21)

id	Title	Authors	Year	Affiliating Genes
1	Secondary, somatic mutations might promote cyst forma tion in patients with autosomal dominant polycystic liver disease. (21856269)	Janssen M.J.... Drenth J.P.	2011	PRKCSH
2	Patients with isolated polycystic liver disease refer red to liver centres: clinical characterization of 137 cases. (20408955)	van Keimpema L.... Drenth J.P.	2010	PRKCSH, SEC63
3	Polycystic liver diseases. (20138815)	Onori P.... Gaudio E.	2010	PKD1, PKHD1
4	Congenital disorders of glycosylation in hepatology: the example of polycystic liver disease. (20138683)	Janssen M.J.... Drenth J.P.	2010	PRKCSH
5	Secondary and tertiary structure modeling reveals eff ects of novel mutations in polycystic liver disease genes PRKCSH and SEC63. (20095989)	Waanders E.... Drenth J.P.	2010	PRKCSH, SEC63
6	PRKCSH/80K-H, the protein mutated in polycystic liver disease, protects polycystin-2/TRPP2 against HERP-mediated degradation. (19801576)	Gao H.... Walz G.	2010	PKD2, PRKCSH, SEC63
7	PRKCSH Genetic Mutation Was Not Found in Taiwanese Patients with Polycystic Liver Disease. (19308730)	Yang A.M.... Yang W.S.	2009	PRKCSH
8	Cysts of PRKCSH mutated polycystic liver disease patients lack hepatocystin but express Sec63p. (18224332)	Waanders E.... Drenth J.P.	2008	PRKCSH, SEC63
9	Disrupted cell adhesion but not proliferation mediates cyst formation in polycystic liver disease. (18587325)	Waanders E.... Drenth J.P.	2008	PRKCSH, EPCAM
10	Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease. (16835903)	Waanders E.... Drenth J.P.	2006	PRKCSH, SEC63
11	Effects of angiogenic factor overexpression by human and rodent cholangiocytes in polycystic liver diseases. (16628643)	Fabris L.... Strazzabosco M.	2006	TEK, PCNA, ANGPT1
12	Autosomal dominant polycystic liver disease in a family without polycystic kidney disease associated with a novel missense protein kinase C substrate 80K-H mutation. (16437702)	Peces R.... Peces C.	2005	PRKCSH
13	Management of polycystic liver disease. (15701294)	Everson G.T.... Taylor M.R.	2005	PKD1, PKD2
14	Polycystic liver disease is a disorder of cotranslational protein processing. (15649821)	Drenth J.P.... Jansen J.B.	2005	PRKCSH, SEC63
15	Mutations in SEC63 cause autosomal dominant polycystic liver disease. (15133510)	Davila S.... Somlo S.	2004	PRKCSH, SEC63
16	Abnormal hepatocystin caused by truncating PRKCSH mutations leads to autosomal dominant polycystic liver disease. (15057895)	Drenth J.P.... Jansen J.B.	2004	PRKCSH
17	Molecular characterization of hepatocystin, the protein that is defective in autosomal dominant polycystic liver disease. (15188177)	Drenth J.P.... Bonifacino J.S.	2004	PRKCSH, GANAB
18	Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease. (12529853)	Li A.... Somlo S.	2003	PKD1, PKD2, PRKCSH
19	From gene to disease; hepatocystin and autosomal dominant polycystic liver disease (12894465)	Jansen J.B.... Drenth J.P.	2003	PRKCSH
20	Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease. (12577059)	Drenth J.P.H.... Jansen J.B.M.J.	2003	PRKCSH
21	Identification of a locus for autosomal dominant polycystic liver disease, on chromosome 19p13.2-13.1. (11047756)	Reynolds D.M.... Somlo S.	2000	PRKCSH

Genes related to polycystic liver disease according to GeneCards:

(show all 14)

id	Symbol	Description	Score	GeneCards Section Context
1	PRKCSH	protein kinase C substrate 80K-H	11.1	Publications, Orthologs, Summaries
2	PCLD	polycystic liver disease	11.1	Aliases & Descriptions
3	SEC63	SEC63 homolog (S. cerevisiae)	11.0	Publications
4	PKD2	polycystic kidney disease 2 (autosomal dominant)	11.0	Publications
5	PKD1	polycystic kidney disease 1 (autosomal dominant)	11.0	Publications
6	GANAB	glucosidase, alpha; neutral AB	11.0	Publications
7	DNAJC12	DnaJ (Hsp40) homolog, subfamily C, member 12	11.0
8	SEC62	SEC62 homolog (S. cerevisiae)	11.0
9	EPCAM	epithelial cell adhesion molecule	11.0	Publications
10	ANGPT2	angiopoietin 2	11.0	Publications
11	TEK	TEK tyrosine kinase, endothelial	11.0	Publications
12	ANGPT1	angiopoietin 1	11.0	Publications
13	PKHD1	polycystic kidney and hepatic disease 1 (autosomal recessive)	11.0	Publications
14	PCNA	proliferating cell nuclear antigen	11.0	Publications

Pathways related to polycystic liver disease according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Protein export20	9.8	SEC63, SEC62
2	Protein processing in endoplasmic reticulum20	9.3	GANAB, PRKCSH, SEC62, SEC63
3	Angiopoietin-TIE2 Signaling36	9.0	ANGPT2, TEK, ANGPT1
4	Development Angiopoietin - Tie2 signaling10	8.9	ANGPT2, ANGPT1, TEK
5	Development_Angiopoietin - Tie2 signaling41	8.8	ANGPT2, TEK, ANGPT1
6	Cell surface interactions at the vascular wall38	8.6	TEK, ANGPT2, ANGPT1

Compounds related to polycystic liver disease according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	trp-p-232	9.9	PKD2, PKD1
2	tween32	9.0	TEK, ANGPT1
3	thymidine32 18	8.9	EPCAM, TEK, ANGPT2, PCNA, ANGPT1
4	paraffin32	7.8	PCNA, EPCAM, TEK, ANGPT2, ANGPT1

Cellular components related to polycystic liver disease according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	polycystin complex	GO:002133	10.0	PKD1, PKD2
2	motile primary cilium	GO:031512	9.9	PKD2, PKD1
3	basal plasma membrane	GO:009925	9.7	PKD2, TEK
4	mitotic spindle	GO:072686	9.3	PKD2, PKHD1
5	basolateral plasma membrane	GO:016323	8.9	EPCAM, TEK, PKD1

Biological processes related to polycystic liver disease according to GeneDecks:

(show all 19)

id	Name	GO ID	Score	Top Affiliating Genes
1	mesonephric tubule development	GO:072164	10.2	PKD1, PKD2
2	detection of mechanical stimulus	GO:050982	10.2	PKD2, PKD1
3	mesonephric duct development	GO:072177	10.2	PKD1, PKD2
4	metanephric ascending thin limb development	GO:072218	10.2	PKD1, PKD2
5	placenta blood vessel development	GO:060674	10.1	PKD1, PKD2
6	positive regulation of cyclin-dependent protein kinase activity involved in G1/S	GO:031659	10.1	PKD1, PKD2
7	cytoplasmic sequestering of transcription factor	GO:042994	10.1	PKD2, PKD1
8	neural tube development	GO:021915	10.0	PKD1, PKD2
9	spinal cord development	GO:021510	9.9	PKD1, PKD2
10	JAK-STAT cascade	GO:007259	9.9	PKD1, PKD2
11	embryonic placenta development	GO:001892	9.8	PKD1, PKD2
12	protein folding	GO:006457	9.6	DNAJC12, SEC63, PRKCSH, GANAB
13	negative regulation of endothelial cell apoptotic process	GO:2000352	9.5	ANGPT1, TEK
14	sprouting angiogenesis	GO:002040	9.5	ANGPT1, TEK
15	Tie receptor signaling pathway	GO:048014	9.2	ANGPT2, ANGPT1, TEK
16	glomerulus vasculature development	GO:072012	9.2	ANGPT2, TEK, ANGPT1
17	heart development	GO:007507	9.2	PKD2, PKD1, TEK, PCNA
18	positive regulation of endothelial cell migration	GO:010595	9.0	TEK, ANGPT1
19	leukocyte migration	GO:050900	9.0	ANGPT1, TEK, ANGPT2

Molecular functions related to polycystic liver disease according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	receptor tyrosine kinase binding	GO:030971	8.6	PCNA, ANGPT2, ANGPT1
2	receptor activity	GO:004872	8.5	SEC63, SEC62, TEK, PKHD1