PCLD3
MCID: PLY174
MIFTS: 15

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

Categories: Gastrointestinal diseases, 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 58 76 30 6
Pcld3 58 76

Characteristics:

OMIM:

58
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


Classifications:



External Ids:

OMIM 58 617874

Summaries for Polycystic Liver Disease 3 with or Without Kidney Cysts

OMIM : 58 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)

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 kidney and liver.

UniProtKB/Swiss-Prot : 76 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

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:

617874

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 30 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:

42
Kidney, Liver

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 Year
1
Isolated polycystic liver disease genes define effectors of polycystin-1 function. ( 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 Variation Type Significance SNP ID Assembly Location
1 ALG8 NM_024079.4(ALG8): c.1090C> T (p.Arg364Ter) single nucleotide variant Pathogenic rs376161880 GRCh38 Chromosome 11, 78106895: 78106895
2 ALG8 NM_024079.4(ALG8): c.1090C> T (p.Arg364Ter) single nucleotide variant Pathogenic rs376161880 GRCh37 Chromosome 11, 77817941: 77817941
3 ALG8 NM_024079.4(ALG8): c.1507A> G (p.Ile503Val) single nucleotide variant Uncertain significance rs17856033 GRCh37 Chromosome 11, 77812084: 77812084
4 ALG8 NM_024079.4(ALG8): c.1507A> G (p.Ile503Val) single nucleotide variant Uncertain significance rs17856033 GRCh38 Chromosome 11, 78101038: 78101038
5 ALG8 NM_024079.4(ALG8): c.1038+1G> T single nucleotide variant Pathogenic rs202112771 GRCh37 Chromosome 11, 77820487: 77820487
6 ALG8 NM_024079.4(ALG8): c.1038+1G> T single nucleotide variant Pathogenic rs202112771 GRCh38 Chromosome 11, 78109441: 78109441
7 ALG8 NM_024079.4(ALG8): c.535C> T (p.Arg179Ter) single nucleotide variant Pathogenic rs762811727 GRCh37 Chromosome 11, 77830239: 77830239
8 ALG8 NM_024079.4(ALG8): c.535C> T (p.Arg179Ter) single nucleotide variant Pathogenic rs762811727 GRCh38 Chromosome 11, 78119193: 78119193

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
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
Content
Loading form....