PCLD2
MCID: PLY173
MIFTS: 20

Polycystic Liver Disease 2 with or Without Kidney Cysts (PCLD2)

Categories: Genetic diseases, Liver diseases, Nephrological diseases

Aliases & Classifications for Polycystic Liver Disease 2 with or Without Kidney Cysts

MalaCards integrated aliases for Polycystic Liver Disease 2 with or Without Kidney Cysts:

Name: Polycystic Liver Disease 2 with or Without Kidney Cysts 56 73
Polycystic Liver Disease 2 56 29 6
Pcld2 56 73
Liver Disease, Polycystic, Type 2 39

Characteristics:

OMIM:

56
Miscellaneous:
adult onset
kidney cysts are usually incidental findings and do not cause significant renal disease

Inheritance:
autosomal dominant


HPO:

31
polycystic liver disease 2 with or without kidney cysts:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


Classifications:



External Ids:

OMIM 56 617004
OMIM Phenotypic Series 56 PS174050
SNOMED-CT via HPO 68 263681008 80515008 85057007

Summaries for Polycystic Liver Disease 2 with or Without Kidney Cysts

OMIM : 56 PCLD2 is an autosomal dominant disease characterized by the presence of multiple liver cysts resulting from structural changes in the biliary tree during development. Abnormal biliary structures may be present early in life, but they usually remain asymptomatic until cyst growth initiates during adulthood. In advanced stages, patients may develop massively enlarged livers, which cause a spectrum of clinical features and complications. Genetic studies suggest that an accumulation of somatic hits in cyst epithelium determines the rate of cyst formation. 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). For a discussion of genetic heterogeneity of polycystic liver disease, see PCLD1 (174050). (617004)

MalaCards based summary : Polycystic Liver Disease 2 with or Without Kidney Cysts, is also known as polycystic liver disease 2. An important gene associated with Polycystic Liver Disease 2 with or Without Kidney Cysts is SEC63 (SEC63 Homolog, Protein Translocation Regulator). Affiliated tissues include liver and kidney, and related phenotypes are hepatomegaly and hepatic cysts

UniProtKB/Swiss-Prot : 73 Polycystic liver disease 2 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.

Related Diseases for Polycystic Liver Disease 2 with or Without Kidney Cysts

Symptoms & Phenotypes for Polycystic Liver Disease 2 with or Without Kidney Cysts

Human phenotypes related to Polycystic Liver Disease 2 with or Without Kidney Cysts:

31
# Description HPO Frequency HPO Source Accession
1 hepatomegaly 31 HP:0002240
2 hepatic cysts 31 HP:0001407

Symptoms via clinical synopsis from OMIM:

56
Abdomen Liver:
hepatomegaly
liver cysts

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

Clinical features from OMIM:

617004

Drugs & Therapeutics for Polycystic Liver Disease 2 with or Without Kidney Cysts

Search Clinical Trials , NIH Clinical Center for Polycystic Liver Disease 2 with or Without Kidney Cysts

Genetic Tests for Polycystic Liver Disease 2 with or Without Kidney Cysts

Genetic tests related to Polycystic Liver Disease 2 with or Without Kidney Cysts:

# Genetic test Affiliating Genes
1 Polycystic Liver Disease 2 29 SEC63

Anatomical Context for Polycystic Liver Disease 2 with or Without Kidney Cysts

MalaCards organs/tissues related to Polycystic Liver Disease 2 with or Without Kidney Cysts:

40
Liver, Kidney

Publications for Polycystic Liver Disease 2 with or Without Kidney Cysts

Articles related to Polycystic Liver Disease 2 with or Without Kidney Cysts:

# Title Authors PMID Year
1
Mutations in SEC63 cause autosomal dominant polycystic liver disease. 56 6
15133510 2004
2
Polycystic liver disease: an overview of pathogenesis, clinical manifestations and management. 56
24886261 2014
3
Isolated polycystic liver disease as a distinct genetic disease, unlinked to polycystic kidney disease 1 and polycystic kidney disease 2. 56
8591848 1996
4
[Polycistic liver disease. The hepato-biliary sequential scintigraphy in comparison with other diagnostic procedures (author's transl)]. 61
905562 1977

Variations for Polycystic Liver Disease 2 with or Without Kidney Cysts

ClinVar genetic disease variations for Polycystic Liver Disease 2 with or Without Kidney Cysts:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SEC63 NM_007214.5(SEC63):c.173G>A (p.Trp58Ter)SNV Pathogenic 2167 rs119103233 6:108250670-108250670 6:107929466-107929466
2 SEC63 NM_007214.5(SEC63):c.442_443insA (p.Ala148fs)insertion Pathogenic 2168 rs886041027 6:108243010-108243011 6:107921806-107921807
3 SEC63 NM_007214.5(SEC63):c.733+1G>ASNV Pathogenic 2169 rs886041028 6:108230130-108230130 6:107908926-107908926
4 SEC63 NM_007214.5(SEC63):c.514+1G>ASNV Pathogenic 522474 rs1554236269 6:108234569-108234569 6:107913365-107913365
5 SEC63 NM_007214.5(SEC63):c.1697_1699AAG[2] (p.Glu568del)short repeat Conflicting interpretations of pathogenicity 354899 rs752018806 6:108204320-108204322 6:107883116-107883118

Expression for Polycystic Liver Disease 2 with or Without Kidney Cysts

Search GEO for disease gene expression data for Polycystic Liver Disease 2 with or Without Kidney Cysts.

Pathways for Polycystic Liver Disease 2 with or Without Kidney Cysts

GO Terms for Polycystic Liver Disease 2 with or Without Kidney Cysts

Sources for Polycystic Liver Disease 2 with or Without Kidney Cysts

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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