MCID: PLY174
MIFTS: 12

Polycystic Liver Disease 3 with or Without Kidney Cysts

Categories: Genetic diseases, Liver 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 75 6
Pcld3 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


Classifications:



External Ids:

OMIM 57 617874
MedGen 42 CN818986

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)

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.

UniProtKB/Swiss-Prot : 75 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:

57
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

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:

41
Liver, Kidney

Publications for Polycystic Liver Disease 3 with or Without Kidney Cysts

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 GRCh37 Chromosome 11, 77817941: 77817941
2 ALG8 NM_024079.4(ALG8): c.1090C> T (p.Arg364Ter) single nucleotide variant Pathogenic rs376161880 GRCh38 Chromosome 11, 78106895: 78106895
3 ALG8 NM_024079.4(ALG8): c.1038+1G> T single nucleotide variant Pathogenic rs202112771 GRCh37 Chromosome 11, 77820487: 77820487
4 ALG8 NM_024079.4(ALG8): c.1038+1G> T single nucleotide variant Pathogenic rs202112771 GRCh38 Chromosome 11, 78109441: 78109441
5 ALG8 NM_024079.4(ALG8): c.535C> T (p.Arg179Ter) single nucleotide variant Pathogenic rs762811727 GRCh37 Chromosome 11, 77830239: 77830239
6 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 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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