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PCLD1
MCID: PLY169
MIFTS: 59

Polycystic Liver Disease 1 with or Without Kidney Cysts (PCLD1)

Categories: Gastrointestinal diseases, Genetic diseases, Liver diseases, Nephrological diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Polycystic Liver Disease 1 with or Without Kidney Cysts

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MalaCards integrated aliases for Polycystic Liver Disease 1 with or Without Kidney Cysts:

Name: Polycystic Liver Disease 1 with or Without Kidney Cysts 57 75
Polycystic Liver Disease 1 57 29 6
Pcld1 57 75
Liver Disease, Polycystic, Type 1 40
Polycystic Liver Disease 73
Cysts 44
Cyst 73

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
adult onset
kidney cysts are usually incidental findings and do not cause significant renal diseaes


HPO:

32
polycystic liver disease 1 with or without kidney cysts:
Onset and clinical course adult onset
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Gastrointestinal diseases Nephrological diseases Liver diseases
See all MalaCards categories (disease lists)
ICD10: 33


Sources

Summaries for Polycystic Liver Disease 1 with or Without Kidney Cysts

About this section
OMIM : 57 Polycystic liver disease-1 is an autosomal dominant condition characterized by the presence of multiple liver cysts of biliary epithelial origin. Although the clinical presentation and histologic features of polycystic liver disease in the presence or absence of autosomal dominant polycystic kidney disease (see, e.g., PKD1, 173900) are indistinguishable, PCLD1 is a genetically distinct form of isolated polycystic liver disease (summary by Reynolds et al., 2000). A subset of patients (28-35%) may develop kidney cysts that are usually incidental findings and do not result in clinically significant renal disease (review by Cnossen and Drenth, 2014). (174050)

MalaCards based summary : Polycystic Liver Disease 1 with or Without Kidney Cysts, also known as polycystic liver disease 1, is related to dermoid cyst and meibomian cyst, and has symptoms including hepatosplenomegaly An important gene associated with Polycystic Liver Disease 1 with or Without Kidney Cysts is PRKCSH (Protein Kinase C Substrate 80K-H), and among its related pathways/superpathways is Cytoskeletal Signaling. Affiliated tissues include liver, kidney and lung, and related phenotypes are abnormality of the cardiovascular system and ascites

UniProtKB/Swiss-Prot : 75 Polycystic liver disease 1 with or without kidney cysts: An autosomal dominant hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts. A subset of patients may develop kidney cysts that usually do not result in clinically significant renal disease.

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Related Diseases for Polycystic Liver Disease 1 with or Without Kidney Cysts

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Diseases in the Polycystic Liver Disease 1 with or Without Kidney Cysts family:

Polycystic Liver Disease 2 with or Without Kidney Cysts Polycystic Liver Disease 3 with or Without Kidney Cysts
Polycystic Liver Disease 4 with or Without Kidney Cysts

Diseases related to Polycystic Liver Disease 1 with or Without Kidney Cysts via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1835)
# Related Disease Score Top Affiliating Genes
1 dermoid cyst 34.0 KRT20 KRT7 MUC1
2 meibomian cyst 33.6 KRT20 KRT7
3 steatocystoma multiplex 33.4 KRT17 PKD1
4 cystic kidney disease 32.8 TSC1 PRKCSH PKHD1 PKD2 PKD1 NPHP1
5 polycystic liver disease 32.8 SEC63 PRKCSH PKHD1 PKD2 PKD1 LRP5
6 polycystic kidney disease 32.5 PRKCSH PKHD1 PKD2 PKD1 LRP5 HNF1B
7 lymphatic malformations 32.2 PKD1 PKD2
8 nephronophthisis 32.2 NPHP1 PKD1 PKD2 PKHD1
9 autosomal dominant polycystic kidney disease 32.1 TSC1 PKHD1 PKD2 PKD1 LRP5 HNF1B
10 polycystic kidney disease 1 with or without polycystic liver disease 32.1 TSC1 PRKCSH PKHD1 PKD2 PKD1 HNF1B
11 multicystic dysplastic kidney 32.0 PKD1 PKD2
12 cystadenoma 32.0 KRT20 KRT7 MUC1
13 caroli disease 31.9 PKD1 PKHD1
14 polycystic kidney disease 4 with or without polycystic liver disease 31.9 SEC63 PRKCSH PKHD1 PKD2 PKD1 HNF1B
15 autosomal dominant tubulointerstitial kidney disease 31.7 HNF1B MUC1
16 cholangiocarcinoma 31.7 CEACAM3 KRT20 KRT7 MUC1
17 polycystic kidney disease 2 with or without polycystic liver disease 31.7 SEC63 PRKCSH PKHD1 PKD2 PKD1 HNF1B
18 appendix adenocarcinoma 31.4 KRT20 KRT7
19 kidney disease 30.9 HNF1B MUC1 NPHP1 PKD1 PKD2 PKHD1
20 papillary carcinoma 30.8 KRT20 KRT7 MUC1
21 pneumothorax 30.4 FLCN MUC1 TSC1
22 liver disease 30.3 LRP5 PKD1 PKD2 PKHD1 PRKCSH SEC63
23 papillary adenocarcinoma 30.3 KRT7 MUC1 MUC16
24 cystadenocarcinoma 30.2 CEACAM3 KRT7 MUC1 MUC16
25 basal cell carcinoma 30.2 KRT17 KRT20 KRT7 PTCH1
26 mucinous adenocarcinoma 30.2 KRT20 KRT7 MUC1
27 renal cell carcinoma, nonpapillary 30.1 FLCN HNF1B KRT20 KRT7 MUC1 TSC1
28 pseudomyxoma peritonei 29.9 KRT20 KRT7 MUC1
29 biliary papillomatosis 29.8 KRT20 KRT7 MUC1
30 carcinosarcoma 29.8 ACTC1 KRT7 MUC1
31 intrahepatic cholangiocarcinoma 29.8 KRT20 KRT7 MUC1
32 endosalpingiosis 29.8 KRT7 MUC1
33 secretory meningioma 29.8 KRT7 MUC1
34 horseshoe kidney 29.8 ACTC1 HNF1B KRT20 KRT7
35 chordoma 29.8 CEACAM3 KRT7 MUC1
36 congenital hepatic fibrosis 29.7 PKD1 PKHD1
37 merkel cell carcinoma 29.7 KRT20 KRT7 MUC1
38 oncocytoma 29.7 FLCN KRT7 MUC1
39 ossifying fibromyxoid tumor 29.7 ACTC1 MUC1
40 clear cell adenocarcinoma 29.7 HNF1B KRT20 KRT7 MUC16
41 adenomyoma 29.7 KRT7 MUC1
42 spindle cell carcinoma 29.7 ACTC1 KRT7 MUC1
43 mucinous cystadenocarcinoma 29.6 KRT20 KRT7 MUC1 MUC16
44 nodular hidradenoma 29.6 KRT7 MUC1
45 papillary transitional carcinoma 29.6 KRT20 KRT7
46 cavernous hemangioma 29.5 KRT20 KRT7 MUC1
47 bowen's disease 29.5 KRT17 KRT7
48 ovarian brenner tumor 29.5 KRT20 KRT7 MUC16
49 adenoid cystic carcinoma 29.5 ACTC1 KRT20 KRT7 MUC1
50 cystic basal cell carcinoma 29.4 KRT20 KRT7

Graphical network of the top 20 diseases related to Polycystic Liver Disease 1 with or Without Kidney Cysts:



Diseases related to Polycystic Liver Disease 1 with or Without Kidney Cysts
Sources

Symptoms & Phenotypes for Polycystic Liver Disease 1 with or Without Kidney Cysts

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Symptoms via clinical synopsis from OMIM:

57
Abdomen Liver:
usually asymptomatic
abdominal distention due to mass effect of liver
multiple fluid-filled cysts throughout the liver
cysts of biliary epithelial origin
rare hemorrhage from cysts
more
Respiratory:
dyspnea due to mass effect of liver

Genitourinary Kidneys:
renal cysts, few (in some patients)

Neurologic Central Nervous System:
absence of cerebral aneurysms

Cardiovascular Vascular:
rare compression of inferior vena cava (secondary lower extremity edema)

Abdomen Gastrointestinal:
early satiety due to mass effect of liver

Skeletal Spine:
back pain due to mass effect of liver

Laboratory Abnormalities:
slightly increased serum alkaline phosphatase may occur
increased total bilirubin may occur
lower total cholesterol
lower triglycerides


Clinical features from OMIM:

174050

Human phenotypes related to Polycystic Liver Disease 1 with or Without Kidney Cysts:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 abnormality of the cardiovascular system 32 HP:0001626
2 ascites 32 HP:0001541
3 back pain 32 HP:0003418
4 abnormality of the nervous system 32 HP:0000707
5 abdominal distention 32 HP:0003270
6 renal cyst 32 HP:0000107
7 elevated alkaline phosphatase 32 occasional (7.5%) HP:0003155
8 increased total bilirubin 32 HP:0003573
9 polycystic liver disease 32 HP:0006557

UMLS symptoms related to Polycystic Liver Disease 1 with or Without Kidney Cysts:


hepatosplenomegaly

GenomeRNAi Phenotypes related to Polycystic Liver Disease 1 with or Without Kidney Cysts according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell migration GR00055-A-1 9.02 ENPP1 MUC1 PKD1 PKD2 TSC1

MGI Mouse Phenotypes related to Polycystic Liver Disease 1 with or Without Kidney Cysts:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.25 ACTC1 ENPP1 FLCN KRT17 KRT7 LRP5
2 growth/size/body region MP:0005378 10.1 ACTC1 ENPP1 FLCN HNF1B KRT17 LRP5
3 cardiovascular system MP:0005385 10.09 ACTC1 ENPP1 FLCN LRP5 PKD1 PKD2
4 homeostasis/metabolism MP:0005376 10.07 ACTC1 ENPP1 FLCN HNF1B KRT7 LRP5
5 endocrine/exocrine gland MP:0005379 10.02 HNF1B LRP5 MLC1 NPHP1 PKD1 PKD2
6 liver/biliary system MP:0005370 9.81 ENPP1 HNF1B LRP5 PKD1 PKD2 PKHD1
7 mortality/aging MP:0010768 9.77 ACTC1 ENPP1 FLCN HNF1B KRT17 LRP5
8 renal/urinary system MP:0005367 9.4 ENPP1 FLCN HNF1B KRT7 NPHP1 PKD1
Sources

Drugs & Therapeutics for Polycystic Liver Disease 1 with or Without Kidney Cysts

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Search Clinical Trials , NIH Clinical Center for Polycystic Liver Disease 1 with or Without Kidney Cysts

Cochrane evidence based reviews: cysts

Sources

Genetic Tests for Polycystic Liver Disease 1 with or Without Kidney Cysts

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Genetic tests related to Polycystic Liver Disease 1 with or Without Kidney Cysts:

# Genetic test Affiliating Genes
1 Polycystic Liver Disease 1 29 PRKCSH
Sources

Anatomical Context for Polycystic Liver Disease 1 with or Without Kidney Cysts

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MalaCards organs/tissues related to Polycystic Liver Disease 1 with or Without Kidney Cysts:

41
Liver, Kidney, Lung, Brain, Bone, Pituitary, Thyroid
Sources

Publications for Polycystic Liver Disease 1 with or Without Kidney Cysts

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Articles related to Polycystic Liver Disease 1 with or Without Kidney Cysts:

(show top 50) (show all 293)
# Title Authors Year
1
Impact of liver volume on polycystic liver disease-related symptoms and quality of life. ( 29435317 )
2018
2
The combination of an HDAC6 inhibitor and a somatostatin receptor agonist synergistically reduces hepato-renal cystogenesis in an animal model of polycystic liver disease. ( 29366679 )
2018
3
Liver Transplant for Unusually Large Polycystic Liver Disease: Challenges and Pitfalls. ( 29487756 )
2018
4
Isolated Polycystic Liver Disease: An Unusual Cause of Recurrent Variceal Bleed. ( 29971171 )
2018
5
Scanning electron microscopy of polycystic liver disease. ( 29520518 )
2018
6
Multicentric Study of the Andalusian Experience in Polycystic Liver Disease as Indication for Liver Transplantation. ( 29579867 )
2018
7
A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family. ( 29243290 )
2018
8
TIMING AND TREATMENT OPTIONS IN ADULT POLYCYSTIC LIVER DISEASE: A RARE FAMILIAR CASE AS EXAMPLE. ( 30539986 )
2018
9
Intravascular US Guidance for Direct Intrahepatic Portosystemic Shunt Creation in the Setting of Polycystic Liver Disease. ( 30266228 )
2018
10
Drug holiday in patients with polycystic liver disease treated with somatostatin analogues. ( 30302127 )
2018
11
Modified technique of total hepatectomy in polycystic liver disease with caval flow preservation: the exposure left lateral sectionectomy. ( 30444803 )
2018
12
Treatment of polycystic liver disease. Update on the management. ( 30145049 )
2018
13
An in vitro model of polycystic liver disease using genome-edited human inducible pluripotent stem cells. ( 30172093 )
2018
14
Severity in polycystic liver disease is associated with aetiology and female gender: Results of the International PLD Registry. ( 30225933 )
2018
15
Polycystic liver disease: Hepatic venous outflow obstruction lesions of the noncystic parenchyma have major consequences. ( 29023812 )
2018
16
Liver Transplantation for Polycystic Liver Disease Due to Huge Liver With Related Complications: A Case Report. ( 28340841 )
2017
17
Genetics: Novel causative genes for polycystic liver disease. ( 28559591 )
2017
18
Waitlisted Candidates With Polycystic Liver Disease are More Likely to be Transplanted Than Those With Chronic Liver Failure. ( 28296808 )
2017
19
Polycystic Liver Disease and Sarcoidosis: Unusual Coexisting Etiologies of Portal Hypertension. ( 28280650 )
2017
20
Transarterial Embolization for Treatment of Symptomatic Polycystic Liver Disease: More than 2-year Follow-up. ( 28776546 )
2017
21
Tolvaptan for the Treatment of Enlarged Polycystic Liver Disease. ( 29034246 )
2017
22
Clinical management of polycystic liver disease. ( 29175241 )
2017
23
Everolimus halts hepatic cystogenesis in a rodent model of polycystic-liver-disease. ( 28852309 )
2017
24
Hepatobiliary and Pancreatic: A unique case of HPV related metastatic Schneiderian carcinoma presenting as polycystic liver disease. ( 28052462 )
2017
25
Cholangiocyte autophagy contributes to hepatic cystogenesis in polycystic liver disease and represents a potential therapeutic target. ( 29023824 )
2017
26
Center is an important indicator for choice of invasive therapy in polycystic liver disease. ( 27732751 )
2017
27
Isolated polycystic liver disease genes define effectors of polycystin-1 function. ( 28862642 )
2017
28
Functional Budd-Chiari Syndrome Associated With Severe Polycystic Liver Disease. ( 28611533 )
2017
29
An update on the pathophysiology and management of polycystic liver disease. ( 28317394 )
2017
30
The Longitudinal Study of Liver Cysts inA Patients With Autosomal Dominant Polycystic Kidney Disease and Polycystic Liver Disease. ( 29142941 )
2017
31
Polycystic Liver Disease: The interplay of genes causative for hepatic and renal cystogenesis. ( 29211938 )
2017
32
Transgastric removal of a polycystic liver disease using mini-laparoscopic excision. ( 28386465 )
2016
33
Polycystic Liver Disease: The Benefits of Targeting cAMP. ( 26972981 )
2016
34
Adult polycystic liver disease concomitant with severe anemia due to intracystic bleeding is indicated to liver transplantation: case report and review of literature. ( 26945526 )
2016
35
Ursodeoxycholic acid in advanced polycystic liver disease: an international multicenter randomized controlled phase 2 trial: CURSOR: Controlled trial of URSOdeoxycholic acid to Reduce liver volume in polycystic liver disease. ( 27212247 )
2016
36
Vasopressin regulates the growth of the biliary epithelium in polycystic liver disease. ( 27571215 )
2016
37
Overexpression of Aquaporin 1 on cysts of patients with polycystic liver disease. ( 26838488 )
2016
38
Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes. ( 27552964 )
2016
39
Portal hypertension in polycystic liver disease patients does not affect wait-list or immediate post-liver transplantation outcomes. ( 28018103 )
2016
40
Development and validation of a disease-specific questionnaire to assess patient-reported symptoms in polycystic liver disease. ( 26970415 )
2016
41
Adenylyl cyclase 5 links changes in calcium homeostasis to cAMP-dependent cyst growth in polycystic liver disease. ( 27826057 )
2016
42
Monoethanolamine Oleate Sclerotherapy for Polycystic Liver Disease. ( 27750233 )
2016
43
Outcomes and Durability of Hepatic Reduction after Combined Partial Hepatectomy and Cyst Fenestration for Massive Polycystic Liver Disease. ( 27016902 )
2016
44
Polycystic liver disease complicated by obstructive jaundice. ( 26718392 )
2016
45
Isolated polycystic liver disease and aneurism: a case report. ( 27275480 )
2016
46
Fatal liver cyst rupture in polycystic liver disease complicated with autosomal dominant polycystic kidney disease: A case report. ( 27050907 )
2016
47
Laparoscopic surgery and polycystic liver disease: Clinicopathological features and new trends in management. ( 27279400 )
2016
48
Risk factors for progressive polycystic liver disease: where do we stand? ( 26681732 )
2016
49
Effect of genotype on the severity and volume progression of polycystic liver disease in autosomal dominant polycystic kidney disease. ( 26932689 )
2016
50
Medical therapy for polycystic liver disease. ( 26688394 )
2016
Sources

Variations for Polycystic Liver Disease 1 with or Without Kidney Cysts

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ClinVar genetic disease variations for Polycystic Liver Disease 1 with or Without Kidney Cysts:

6 (show top 50) (show all 392)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRKCSH NM_002743.3(PRKCSH): c.292+1G> C single nucleotide variant Pathogenic rs774233325 GRCh37 Chromosome 19, 11548793: 11548793
2 PRKCSH NM_002743.3(PRKCSH): c.1440+1_1440+2del deletion Pathogenic rs757957327 GRCh38 Chromosome 19, 11449176: 11449177
3 PRKCSH NM_002743.3(PRKCSH): c.1269C> G (p.Tyr423Ter) single nucleotide variant Pathogenic rs121918520 GRCh37 Chromosome 19, 11559732: 11559732
4 PRKCSH NM_002743.3(PRKCSH): c.215dup (p.Asn72Lysfs) duplication Pathogenic GRCh37 Chromosome 19, 11548715: 11548715
5 PRKCSH NM_002743.3(PRKCSH): c.215dup (p.Asn72Lysfs) duplication Pathogenic GRCh38 Chromosome 19, 11437894: 11437894
6 PRKCSH NM_002743.3(PRKCSH): c.1341-2A> G single nucleotide variant Pathogenic GRCh37 Chromosome 19, 11559889: 11559889
7 PRKCSH NM_002743.3(PRKCSH): c.1341-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome 19, 11449074: 11449074
8 PRKCSH NM_002743.3(PRKCSH): c.292+1G> C single nucleotide variant Pathogenic rs774233325 GRCh38 Chromosome 19, 11437972: 11437972
9 PRKCSH NM_002743.3(PRKCSH): c.1440+1_1440+2del deletion Pathogenic rs757957327 GRCh37 Chromosome 19, 11559991: 11559992
10 PRKCSH NM_002743.3(PRKCSH): c.1240C> T (p.Gln414Ter) single nucleotide variant Pathogenic rs121918519 GRCh37 Chromosome 19, 11559419: 11559419
11 PRKCSH NM_002743.3(PRKCSH): c.1240C> T (p.Gln414Ter) single nucleotide variant Pathogenic rs121918519 GRCh38 Chromosome 19, 11448604: 11448604
12 PRKCSH NM_002743.3(PRKCSH): c.1269C> G (p.Tyr423Ter) single nucleotide variant Pathogenic rs121918520 GRCh38 Chromosome 19, 11448917: 11448917
13 PRKCSH NM_002743.3(PRKCSH): c.79+10_79+12delCCT deletion Benign rs143936796 GRCh37 Chromosome 19, 11547027: 11547029
14 PRKCSH NM_002743.3(PRKCSH): c.79+10_79+12delCCT deletion Benign rs143936796 GRCh38 Chromosome 19, 11436206: 11436208
15 PRKCSH NM_002743.3(PRKCSH): c.850-14T> C single nucleotide variant Benign rs186375 GRCh37 Chromosome 19, 11558240: 11558240
16 PRKCSH NM_002743.3(PRKCSH): c.850-14T> C single nucleotide variant Benign rs186375 GRCh38 Chromosome 19, 11447425: 11447425
17 PRKCSH NM_002743.3(PRKCSH): c.871G> A (p.Ala291Thr) single nucleotide variant Benign rs11557488 GRCh37 Chromosome 19, 11558275: 11558275
18 PRKCSH NM_002743.3(PRKCSH): c.871G> A (p.Ala291Thr) single nucleotide variant Benign rs11557488 GRCh38 Chromosome 19, 11447460: 11447460
19 PRKCSH NM_002743.3(PRKCSH): c.966_968delGGA (p.Glu325del) deletion Benign/Likely benign rs3217229 GRCh37 Chromosome 19, 11558370: 11558372
20 PRKCSH NM_002743.3(PRKCSH): c.966_968delGGA (p.Glu325del) deletion Benign/Likely benign rs3217229 GRCh38 Chromosome 19, 11447555: 11447557
21 SEC63 NM_007214.4(SEC63): c.564C> T (p.Asn188=) single nucleotide variant Benign rs675117 GRCh37 Chromosome 6, 108233929: 108233929
22 SEC63 NM_007214.4(SEC63): c.564C> T (p.Asn188=) single nucleotide variant Benign rs675117 GRCh38 Chromosome 6, 107912725: 107912725
23 LRP5 NM_002335.3(LRP5): c.3562C> T (p.Arg1188Trp) single nucleotide variant Pathogenic rs141178995 GRCh37 Chromosome 11, 68193580: 68193580
24 LRP5 NM_002335.3(LRP5): c.3562C> T (p.Arg1188Trp) single nucleotide variant Pathogenic rs141178995 GRCh38 Chromosome 11, 68426112: 68426112
25 LRP5 NM_002335.3(LRP5): c.4587G> C (p.Arg1529Ser) single nucleotide variant Pathogenic rs724159826 GRCh37 Chromosome 11, 68216277: 68216277
26 LRP5 NM_002335.3(LRP5): c.4587G> C (p.Arg1529Ser) single nucleotide variant Pathogenic rs724159826 GRCh38 Chromosome 11, 68448809: 68448809
27 LRP5 NM_002335.3(LRP5): c.4651G> A (p.Asp1551Asn) single nucleotide variant Pathogenic rs724159827 GRCh38 Chromosome 11, 68448873: 68448873
28 LRP5 NM_002335.3(LRP5): c.4651G> A (p.Asp1551Asn) single nucleotide variant Pathogenic rs724159827 GRCh37 Chromosome 11, 68216341: 68216341
29 SEC63 NM_007214.4(SEC63): c.340-12delG deletion Benign rs58827902 GRCh37 Chromosome 6, 108243125: 108243125
30 SEC63 NM_007214.4(SEC63): c.340-12delG deletion Benign rs58827902 GRCh38 Chromosome 6, 107921921: 107921921
31 SEC63 NM_007214.4(SEC63): c.109delC (p.Arg37Glufs) deletion Pathogenic rs727504146 GRCh37 Chromosome 6, 108279105: 108279105
32 SEC63 NM_007214.4(SEC63): c.109delC (p.Arg37Glufs) deletion Pathogenic rs727504146 GRCh38 Chromosome 6, 107957901: 107957901
33 LRP5 NM_002335.3(LRP5): c.1360G> A (p.Val454Met) single nucleotide variant Pathogenic rs373910016 GRCh37 Chromosome 11, 68154128: 68154128
34 LRP5 NM_002335.3(LRP5): c.1360G> A (p.Val454Met) single nucleotide variant Pathogenic rs373910016 GRCh38 Chromosome 11, 68386660: 68386660
35 SEC63 NM_007214.4(SEC63): c.1605dupA (p.Pro536Thrfs) duplication Pathogenic rs797044656 GRCh37 Chromosome 6, 108214755: 108214755
36 SEC63 NM_007214.4(SEC63): c.1605dupA (p.Pro536Thrfs) duplication Pathogenic rs797044656 GRCh38 Chromosome 6, 107893551: 107893551
37 PRKCSH NM_002743.3(PRKCSH): c.1460_1463delAAGA (p.Lys487Argfs) deletion Pathogenic rs794727187 GRCh37 Chromosome 19, 11560100: 11560103
38 PRKCSH NM_002743.3(PRKCSH): c.1460_1463delAAGA (p.Lys487Argfs) deletion Pathogenic rs794727187 GRCh38 Chromosome 19, 11449285: 11449288
39 SEC63 NM_007214.4(SEC63): c.340-12_340-11delGT deletion Benign/Likely benign rs139413431 GRCh37 Chromosome 6, 108243124: 108243125
40 SEC63 NM_007214.4(SEC63): c.340-12_340-11delGT deletion Benign/Likely benign rs139413431 GRCh38 Chromosome 6, 107921920: 107921921
41 SEC63 NM_007214.4(SEC63): c.452+1G> A single nucleotide variant Pathogenic rs869312977 GRCh37 Chromosome 6, 108243000: 108243000
42 SEC63 NM_007214.4(SEC63): c.452+1G> A single nucleotide variant Pathogenic rs869312977 GRCh38 Chromosome 6, 107921796: 107921796
43 SEC63 NM_007214.4(SEC63): c.220delG (p.Val74Terfs) deletion Pathogenic rs869312978 GRCh37 Chromosome 6, 108250623: 108250623
44 SEC63 NM_007214.4(SEC63): c.220delG (p.Val74Terfs) deletion Pathogenic rs869312978 GRCh38 Chromosome 6, 107929419: 107929419
45 SEC63 NM_007214.4(SEC63): c.2027C> T (p.Thr676Ile) single nucleotide variant Benign/Likely benign rs61733388 GRCh37 Chromosome 6, 108197775: 108197775
46 SEC63 NM_007214.4(SEC63): c.2027C> T (p.Thr676Ile) single nucleotide variant Benign/Likely benign rs61733388 GRCh38 Chromosome 6, 107876571: 107876571
47 PRKCSH NM_002743.3(PRKCSH): c.350+10T> C single nucleotide variant Benign/Likely benign rs188406927 GRCh38 Chromosome 19, 11438134: 11438134
48 PRKCSH NM_002743.3(PRKCSH): c.350+10T> C single nucleotide variant Benign/Likely benign rs188406927 GRCh37 Chromosome 19, 11548955: 11548955
49 PRKCSH NM_002743.3(PRKCSH): c.549T> C (p.Ala183=) single nucleotide variant Benign/Likely benign rs62638749 GRCh38 Chromosome 19, 11442466: 11442466
50 PRKCSH NM_002743.3(PRKCSH): c.549T> C (p.Ala183=) single nucleotide variant Benign/Likely benign rs62638749 GRCh37 Chromosome 19, 11553281: 11553281
Sources

Expression for Polycystic Liver Disease 1 with or Without Kidney Cysts

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Search GEO for disease gene expression data for Polycystic Liver Disease 1 with or Without Kidney Cysts.
Sources

Pathways for Polycystic Liver Disease 1 with or Without Kidney Cysts

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Pathways related to Polycystic Liver Disease 1 with or Without Kidney Cysts according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Cytoskeletal Signaling 4
11.51 ACTC1 KRT17 KRT20 KRT7 MUC1
Sources

GO Terms for Polycystic Liver Disease 1 with or Without Kidney Cysts

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Cellular components related to Polycystic Liver Disease 1 with or Without Kidney Cysts according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.8 ENPP1 NPHP1 PKD1 PKD2 PKHD1 TSC1
2 basolateral plasma membrane GO:0016323 9.56 ENPP1 MLC1 PKD1 PKD2
3 ciliary membrane GO:0060170 9.33 PKD1 PKD2 PTCH1
4 cilium GO:0005929 9.1 FLCN NPHP1 PKD1 PKD2 PKHD1 PTCH1
5 polycystin complex GO:0002133 8.96 PKD1 PKD2
6 plasma membrane GO:0005886 10.15 CEACAM3 ENPP1 FLCN LRP5 MLC1 MUC1

Biological processes related to Polycystic Liver Disease 1 with or Without Kidney Cysts according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 kidney development GO:0001822 9.72 HNF1B PKD1 PKD2 PKHD1 TSC1
2 cornification GO:0070268 9.71 KRT17 KRT20 KRT7
3 intermediate filament organization GO:0045109 9.56 KRT17 KRT20
4 regulation of TOR signaling GO:0032006 9.55 FLCN PKHD1
5 nitrogen compound metabolic process GO:0006807 9.54 PKD1 PRKCSH SEC63
6 bone remodeling GO:0046849 9.52 ENPP1 LRP5
7 cellular response to cholesterol GO:0071397 9.51 MLC1 PTCH1
8 detection of mechanical stimulus GO:0050982 9.49 PKD1 PKD2
9 placenta blood vessel development GO:0060674 9.48 PKD1 PKD2
10 cytoplasmic sequestering of transcription factor GO:0042994 9.46 PKD1 PKD2
11 obsolete positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0031659 9.43 PKD1 PKD2
12 mesonephric tubule development GO:0072164 9.43 HNF1B PKD1 PKD2
13 metanephric ascending thin limb development GO:0072218 9.4 PKD1 PKD2
14 liver development GO:0001889 9.35 HNF1B PKD1 PKD2 PRKCSH SEC63
15 mesonephric duct development GO:0072177 9.33 HNF1B PKD1 PKD2
16 renal system development GO:0072001 9.02 PKD1 PKD2 PRKCSH PTCH1 SEC63

Molecular functions related to Polycystic Liver Disease 1 with or Without Kidney Cysts according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.58 ENPP1 FLCN HNF1B KRT17 KRT20 KRT7
2 protein-containing complex binding GO:0044877 9.26 FLCN HNF1B MLC1 PTCH1
Sources

Sources for Polycystic Liver Disease 1 with or Without Kidney Cysts

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
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46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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