PCLD4
MCID: PLY175
MIFTS: 19

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

Categories: 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 57 72 29 6
Pcld4 57 72
Liver Disease, Polycystic, Type 4, with/without Kidney Cysts 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
incomplete penetrance
variable phenotype
cysts are usually detected in adulthood
patients do not develop severe renal disease
liver disease can be mild or severe

Inheritance:
autosomal dominant


HPO:

31
polycystic liver disease 4 with or without kidney cysts:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

OMIM® 57 617875
OMIM Phenotypic Series 57 PS174050
SNOMED-CT via HPO 68 263681008 85057007

Summaries for Polycystic Liver Disease 4 with or Without Kidney Cysts

UniProtKB/Swiss-Prot : 72 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 renal cyst and hepatic cysts

OMIM® : 57 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) (Updated 20-May-2021)

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:

31
# Description HPO Frequency HPO Source Accession
1 renal cyst 31 very rare (1%) HP:0000107
2 hepatic cysts 31 very rare (1%) HP:0001407

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Abdomen Liver:
liver cysts, small and large

Genitourinary Kidneys:
kidney cysts (in some patients)

Clinical features from OMIM®:

617875 (Updated 20-May-2021)

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 29 LRP5

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:

40
Liver, Kidney

Publications for Polycystic Liver Disease 4 with or Without Kidney Cysts

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

# Title Authors PMID Year
1
Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis. 6 57
24706814 2014
2
LRP5 variants may contribute to ADPKD. 57
25920554 2016

Variations for Polycystic Liver Disease 4 with or Without Kidney Cysts

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LRP5 NM_002335.4(LRP5):c.3562C>T (p.Arg1188Trp) SNV Pathogenic 162391 rs141178995 GRCh37: 11:68193580-68193580
GRCh38: 11:68426112-68426112
2 LRP5 NM_002335.4(LRP5):c.1360G>A (p.Val454Met) SNV Pathogenic 183258 rs373910016 GRCh37: 11:68154128-68154128
GRCh38: 11:68386660-68386660
3 LRP5 NM_002335.4(LRP5):c.4587G>C (p.Arg1529Ser) SNV Pathogenic 162392 rs724159826 GRCh37: 11:68216277-68216277
GRCh38: 11:68448809-68448809
4 LRP5 NM_002335.4(LRP5):c.1199C>T (p.Ala400Val) SNV Uncertain significance 520692 rs201320326 GRCh37: 11:68153967-68153967
GRCh38: 11:68386499-68386499
5 LRP5 NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln) SNV Uncertain significance 183255 rs61889560 GRCh37: 11:68191036-68191036
GRCh38: 11:68423568-68423568
6 LRP5 NM_002335.4(LRP5):c.2137G>C (p.Val713Leu) SNV Uncertain significance 932911 rs751720886 GRCh37: 11:68177427-68177427
GRCh38: 11:68409959-68409959
7 LRP5 NM_002335.4(LRP5):c.3844G>A (p.Gly1282Ser) SNV Uncertain significance 943061 GRCh37: 11:68201150-68201150
GRCh38: 11:68433682-68433682
8 LRP5 NM_002335.4(LRP5):c.3298G>A (p.Gly1100Ser) SNV Uncertain significance 992381 GRCh37: 11:68192631-68192631
GRCh38: 11:68425163-68425163

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

72
# Symbol AA change Variation ID SNP ID
1 LRP5 p.Arg1188Trp VAR_080861 rs141178995

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
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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