MCID: PLY173
MIFTS: 16

Polycystic Liver Disease 2 with or Without Kidney Cysts

Categories: Genetic diseases, Liver 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 57
Polycystic Liver Disease 2 57 75 29 6
Pcld2 57 75
Liver Disease, Polycystic, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
polycystic liver disease 2 with or without kidney cysts:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


Classifications:



External Ids:

OMIM 57 617004
SNOMED-CT via HPO 69 263681008 85057007 80515008

Summaries for Polycystic Liver Disease 2 with or Without Kidney Cysts

OMIM : 57 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 hepatic cysts and hepatomegaly

UniProtKB/Swiss-Prot : 75 Polycystic liver disease 2: An autosomal dominant hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts.

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

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

Symptoms via clinical synopsis from OMIM:

57
Abdomen Liver:
liver cysts
hepatomegaly

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


Clinical features from OMIM:

617004

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

32
# Description HPO Frequency HPO Source Accession
1 hepatic cysts 32 HP:0001407
2 hepatomegaly 32 HP:0002240

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:

41
Liver, Kidney

Publications for Polycystic Liver Disease 2 with or Without Kidney Cysts

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 Variation Type Significance SNP ID Assembly Location
1 SEC63 NM_007214.4(SEC63): c.173G> A (p.Trp58Ter) single nucleotide variant Pathogenic rs119103233 GRCh37 Chromosome 6, 108250670: 108250670
2 SEC63 NM_007214.4(SEC63): c.173G> A (p.Trp58Ter) single nucleotide variant Pathogenic rs119103233 GRCh38 Chromosome 6, 107929466: 107929466
3 SEC63 NM_007214.4(SEC63): c.442_443insA (p.Ala148Aspfs) insertion Pathogenic rs886041027 GRCh37 Chromosome 6, 108243010: 108243011
4 SEC63 NM_007214.4(SEC63): c.442_443insA (p.Ala148Aspfs) insertion Pathogenic rs886041027 GRCh38 Chromosome 6, 107921806: 107921807
5 SEC63 NM_007214.4(SEC63): c.733+1G> A single nucleotide variant Pathogenic rs886041028 GRCh37 Chromosome 6, 108230130: 108230130
6 SEC63 NM_007214.4(SEC63): c.733+1G> A single nucleotide variant Pathogenic rs886041028 GRCh38 Chromosome 6, 107908926: 107908926
7 SEC63 NM_007214.4(SEC63): c.1703_1705delAAG (p.Glu568del) deletion Likely benign rs752018806 GRCh37 Chromosome 6, 108204320: 108204322
8 SEC63 NM_007214.4(SEC63): c.1703_1705delAAG (p.Glu568del) deletion Likely benign rs752018806 GRCh38 Chromosome 6, 107883116: 107883118
9 SEC63 NM_007214.4(SEC63): c.514+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 6, 108234569: 108234569
10 SEC63 NM_007214.4(SEC63): c.514+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 6, 107913365: 107913365

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 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
45 MESH via Orphanet
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
Content
Loading form....