PCLD4
MCID: PLY175
MIFTS: 15

Polycystic Liver Disease 4 with or Without Kidney Cysts (PCLD4)

Categories: Gastrointestinal diseases, Genetic diseases, Liver diseases, Nephrological diseases

Aliases & Classifications for Polycystic Liver Disease 4 with or Without Kidney Cysts

MalaCards integrated aliases for Polycystic Liver Disease 4 with or Without Kidney Cysts:

Name: Polycystic Liver Disease 4 with or Without Kidney Cysts 58 76 30 6
Pcld4 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
incomplete penetrance
cysts are usually detected in adulthood
patients do not develop severe renal disease
liver disease can be mild or severe


HPO:

33
polycystic liver disease 4 with or without kidney cysts:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 617875
SNOMED-CT via HPO 70 263681008 85057007

Summaries for Polycystic Liver Disease 4 with or Without Kidney Cysts

UniProtKB/Swiss-Prot : 76 Polycystic liver disease 4 with or without kidney cysts: A form of polycystic liver disease, an autosomal dominant hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts. PCLD4 patients may also develop kidney cysts that usually do not result in clinically significant renal disease.

MalaCards based summary : Polycystic Liver Disease 4 with or Without Kidney Cysts, is also known as pcld4. An important gene associated with Polycystic Liver Disease 4 with or Without Kidney Cysts is LRP5 (LDL Receptor Related Protein 5). Affiliated tissues include liver and kidney, and related phenotypes are hepatic cysts and renal cyst

OMIM : 58 PCLD4 is an autosomal dominant disease characterized by adult-onset of liver cysts arising from the bile duct epithelium. Some patients may develop a few kidney cysts, but these are often incidental and do not result in renal failure (summary by Cnossen et al., 2014). For a discussion of genetic heterogeneity of polycystic liver disease, see PCLD1 (174050). (617875)

Related Diseases for Polycystic Liver Disease 4 with or Without Kidney Cysts

Symptoms & Phenotypes for Polycystic Liver Disease 4 with or Without Kidney Cysts

Human phenotypes related to Polycystic Liver Disease 4 with or Without Kidney Cysts:

33
# Description HPO Frequency HPO Source Accession
1 hepatic cysts 33 very rare (1%) HP:0001407
2 renal cyst 33 very rare (1%) HP:0000107

Symptoms via clinical synopsis from OMIM:

58
Abdomen Liver:
liver cysts, small and large

Genitourinary Kidneys:
kidney cysts (in some patients)

Clinical features from OMIM:

617875

Drugs & Therapeutics for Polycystic Liver Disease 4 with or Without Kidney Cysts

Search Clinical Trials , NIH Clinical Center for Polycystic Liver Disease 4 with or Without Kidney Cysts

Genetic Tests for Polycystic Liver Disease 4 with or Without Kidney Cysts

Genetic tests related to Polycystic Liver Disease 4 with or Without Kidney Cysts:

# Genetic test Affiliating Genes
1 Polycystic Liver Disease 4 with or Without Kidney Cysts 30

Anatomical Context for Polycystic Liver Disease 4 with or Without Kidney Cysts

MalaCards organs/tissues related to Polycystic Liver Disease 4 with or Without Kidney Cysts:

42
Liver, Kidney

Publications for Polycystic Liver Disease 4 with or Without Kidney Cysts

Variations for Polycystic Liver Disease 4 with or Without Kidney Cysts

UniProtKB/Swiss-Prot genetic disease variations for Polycystic Liver Disease 4 with or Without Kidney Cysts:

76
# Symbol AA change Variation ID SNP ID
1 LRP5 p.Arg1188Trp VAR_080861 rs141178995

ClinVar genetic disease variations for Polycystic Liver Disease 4 with or Without Kidney Cysts:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LRP5 NM_002335.3(LRP5): c.3562C> T (p.Arg1188Trp) single nucleotide variant Pathogenic rs141178995 GRCh37 Chromosome 11, 68193580: 68193580
2 LRP5 NM_002335.3(LRP5): c.3562C> T (p.Arg1188Trp) single nucleotide variant Pathogenic rs141178995 GRCh38 Chromosome 11, 68426112: 68426112
3 LRP5 NM_002335.3(LRP5): c.4587G> C (p.Arg1529Ser) single nucleotide variant Pathogenic rs724159826 GRCh37 Chromosome 11, 68216277: 68216277
4 LRP5 NM_002335.3(LRP5): c.4587G> C (p.Arg1529Ser) single nucleotide variant Pathogenic rs724159826 GRCh38 Chromosome 11, 68448809: 68448809
5 LRP5 NM_002335.3(LRP5): c.1360G> A (p.Val454Met) single nucleotide variant Pathogenic rs373910016 GRCh37 Chromosome 11, 68154128: 68154128
6 LRP5 NM_002335.3(LRP5): c.1360G> A (p.Val454Met) single nucleotide variant Pathogenic rs373910016 GRCh38 Chromosome 11, 68386660: 68386660

Expression for Polycystic Liver Disease 4 with or Without Kidney Cysts

Search GEO for disease gene expression data for Polycystic Liver Disease 4 with or Without Kidney Cysts.

Pathways for Polycystic Liver Disease 4 with or Without Kidney Cysts

GO Terms for Polycystic Liver Disease 4 with or Without Kidney Cysts

Sources for Polycystic Liver Disease 4 with or Without Kidney Cysts

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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