PCLD3
MCID: PLY174
MIFTS: 17

Polycystic Liver Disease 3 with or Without Kidney Cysts (PCLD3)

Categories: Genetic diseases, Liver diseases, Nephrological diseases

Aliases & Classifications for Polycystic Liver Disease 3 with or Without Kidney Cysts

MalaCards integrated aliases for Polycystic Liver Disease 3 with or Without Kidney Cysts:

Name: Polycystic Liver Disease 3 with or Without Kidney Cysts 57 72 29 6
Pcld3 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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


HPO:

31
polycystic liver disease 3 with or without kidney cysts:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 617874
OMIM Phenotypic Series 57 PS174050
SNOMED-CT via HPO 68 263681008 85057007

Summaries for Polycystic Liver Disease 3 with or Without Kidney Cysts

OMIM® : 57 PCLD3 is an autosomal dominant disorder characterized by the development of multiple liver cysts that usually becomes apparent in adulthood. Liver cysts range in size and number, and the clinical severity is variable. Most patients also have a few renal cysts, but they do not result in significant renal disease or renal failure (summary by Besse et al., 2017). For a discussion of genetic heterogeneity of polycystic liver disease, see PCLD1 (174050). (617874) (Updated 20-May-2021)

MalaCards based summary : Polycystic Liver Disease 3 with or Without Kidney Cysts, is also known as pcld3. An important gene associated with Polycystic Liver Disease 3 with or Without Kidney Cysts is ALG8 (ALG8 Alpha-1,3-Glucosyltransferase). Affiliated tissues include liver and kidney, and related phenotypes are renal cyst and hepatic cysts

UniProtKB/Swiss-Prot : 72 Polycystic liver disease 3 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. PCLD3 patients may also develop kidney cysts that usually do not result in clinically significant renal disease.

Related Diseases for Polycystic Liver Disease 3 with or Without Kidney Cysts

Symptoms & Phenotypes for Polycystic Liver Disease 3 with or Without Kidney Cysts

Human phenotypes related to Polycystic Liver Disease 3 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®:

617874 (Updated 20-May-2021)

Drugs & Therapeutics for Polycystic Liver Disease 3 with or Without Kidney Cysts

Search Clinical Trials , NIH Clinical Center for Polycystic Liver Disease 3 with or Without Kidney Cysts

Genetic Tests for Polycystic Liver Disease 3 with or Without Kidney Cysts

Genetic tests related to Polycystic Liver Disease 3 with or Without Kidney Cysts:

# Genetic test Affiliating Genes
1 Polycystic Liver Disease 3 with or Without Kidney Cysts 29 ALG8

Anatomical Context for Polycystic Liver Disease 3 with or Without Kidney Cysts

MalaCards organs/tissues related to Polycystic Liver Disease 3 with or Without Kidney Cysts:

40
Liver, Kidney

Publications for Polycystic Liver Disease 3 with or Without Kidney Cysts

Articles related to Polycystic Liver Disease 3 with or Without Kidney Cysts:

# Title Authors PMID Year
1
Isolated polycystic liver disease genes define effectors of polycystin-1 function. 57 6
28375157 2017

Variations for Polycystic Liver Disease 3 with or Without Kidney Cysts

ClinVar genetic disease variations for Polycystic Liver Disease 3 with or Without Kidney Cysts:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ALG8 NM_024079.5(ALG8):c.535C>T (p.Arg179Ter) SNV Pathogenic 492977 rs762811727 GRCh37: 11:77830239-77830239
GRCh38: 11:78119193-78119193
2 ALG8 NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter) SNV Pathogenic 280116 rs376161880 GRCh37: 11:77817941-77817941
GRCh38: 11:78106895-78106895
3 ALG8 NM_024079.5(ALG8):c.1038+1G>T SNV Pathogenic 492976 rs202112771 GRCh37: 11:77820487-77820487
GRCh38: 11:78109441-78109441
4 ALG8 NM_024079.5(ALG8):c.1507A>G (p.Ile503Val) SNV Uncertain significance 284641 rs17856033 GRCh37: 11:77812084-77812084
GRCh38: 11:78101038-78101038

Expression for Polycystic Liver Disease 3 with or Without Kidney Cysts

Search GEO for disease gene expression data for Polycystic Liver Disease 3 with or Without Kidney Cysts.

Pathways for Polycystic Liver Disease 3 with or Without Kidney Cysts

GO Terms for Polycystic Liver Disease 3 with or Without Kidney Cysts

Sources for Polycystic Liver Disease 3 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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