MCID: PLY175
MIFTS: 12

Polycystic Liver Disease 4 with or Without Kidney Cysts

Categories: Genetic diseases, Liver 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 75 6
Pcld4 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


Classifications:



External Ids:

OMIM 57 617875
MedGen 42 CN818987

Summaries for Polycystic Liver Disease 4 with or Without Kidney Cysts

UniProtKB/Swiss-Prot : 75 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.

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)

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

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

Symptoms via clinical synopsis from OMIM:

57
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

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:

41
Liver, Kidney

Publications for Polycystic Liver Disease 4 with or Without Kidney Cysts

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 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 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
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