PCLD2
MCID: PLY173
MIFTS: 23

Polycystic Liver Disease 2 with or Without Kidney Cysts (PCLD2)

Categories: Genetic diseases, Liver diseases, Nephrological diseases

Aliases & Classifications for Polycystic Liver Disease 2 with or Without Kidney Cysts

MalaCards integrated aliases for Polycystic Liver Disease 2 with or Without Kidney Cysts:

Name: Polycystic Liver Disease 2 with or Without Kidney Cysts 56 73
Polycystic Liver Disease 2 56 29 6
Pcld2 56 73
Liver Disease, Polycystic, Type 2 39

Characteristics:

OMIM:

56
Miscellaneous:
adult onset
kidney cysts are usually incidental findings and do not cause significant renal disease

Inheritance:
autosomal dominant


HPO:

31
polycystic liver disease 2 with or without kidney cysts:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


Classifications:



External Ids:

OMIM 56 617004
OMIM Phenotypic Series 56 PS174050
SNOMED-CT via HPO 68 263681008 80515008 85057007

Summaries for Polycystic Liver Disease 2 with or Without Kidney Cysts

OMIM : 56 PCLD2 is an autosomal dominant disease characterized by the presence of multiple liver cysts resulting from structural changes in the biliary tree during development. Abnormal biliary structures may be present early in life, but they usually remain asymptomatic until cyst growth initiates during adulthood. In advanced stages, patients may develop massively enlarged livers, which cause a spectrum of clinical features and complications. Genetic studies suggest that an accumulation of somatic hits in cyst epithelium determines the rate of cyst formation. A subset of patients (28-35%) may develop kidney cysts that are usually incidental findings and do not result in clinically significant renal disease (review by Cnossen and Drenth, 2014). For a discussion of genetic heterogeneity of polycystic liver disease, see PCLD1 (174050). (617004)

MalaCards based summary : Polycystic Liver Disease 2 with or Without Kidney Cysts, is also known as polycystic liver disease 2. An important gene associated with Polycystic Liver Disease 2 with or Without Kidney Cysts is SEC63 (SEC63 Homolog, Protein Translocation Regulator). Affiliated tissues include liver and kidney, and related phenotypes are hepatomegaly and hepatic cysts

UniProtKB/Swiss-Prot : 73 Polycystic liver disease 2 with or without kidney cysts: An autosomal dominant hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts. A subset of patients may develop kidney cysts that usually do not result in clinically significant renal disease.

Related Diseases for Polycystic Liver Disease 2 with or Without Kidney Cysts

Symptoms & Phenotypes for Polycystic Liver Disease 2 with or Without Kidney Cysts

Human phenotypes related to Polycystic Liver Disease 2 with or Without Kidney Cysts:

31
# Description HPO Frequency HPO Source Accession
1 hepatomegaly 31 HP:0002240
2 hepatic cysts 31 HP:0001407

Symptoms via clinical synopsis from OMIM:

56
Abdomen Liver:
hepatomegaly
liver cysts

Genitourinary Kidneys:
renal cysts, few (in some patients)

Clinical features from OMIM:

617004

Drugs & Therapeutics for Polycystic Liver Disease 2 with or Without Kidney Cysts

Search Clinical Trials , NIH Clinical Center for Polycystic Liver Disease 2 with or Without Kidney Cysts

Genetic Tests for Polycystic Liver Disease 2 with or Without Kidney Cysts

Genetic tests related to Polycystic Liver Disease 2 with or Without Kidney Cysts:

# Genetic test Affiliating Genes
1 Polycystic Liver Disease 2 29 SEC63

Anatomical Context for Polycystic Liver Disease 2 with or Without Kidney Cysts

MalaCards organs/tissues related to Polycystic Liver Disease 2 with or Without Kidney Cysts:

40
Liver, Kidney

Publications for Polycystic Liver Disease 2 with or Without Kidney Cysts

Articles related to Polycystic Liver Disease 2 with or Without Kidney Cysts:

# Title Authors PMID Year
1
Mutations in SEC63 cause autosomal dominant polycystic liver disease. 6 56
15133510 2004
2
Polycystic liver disease: an overview of pathogenesis, clinical manifestations and management. 56
24886261 2014
3
Isolated polycystic liver disease as a distinct genetic disease, unlinked to polycystic kidney disease 1 and polycystic kidney disease 2. 56
8591848 1996
4
[Polycistic liver disease. The hepato-biliary sequential scintigraphy in comparison with other diagnostic procedures (author's transl)]. 61
905562 1977

Variations for Polycystic Liver Disease 2 with or Without Kidney Cysts

ClinVar genetic disease variations for Polycystic Liver Disease 2 with or Without Kidney Cysts:

6 (show top 50) (show all 137) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SEC63 NM_007214.5(SEC63):c.514+1G>ASNV Pathogenic 522474 rs1554236269 6:108234569-108234569 6:107913365-107913365
2 SEC63 NM_007214.5(SEC63):c.173G>A (p.Trp58Ter)SNV Pathogenic 2167 rs119103233 6:108250670-108250670 6:107929466-107929466
3 SEC63 NM_007214.5(SEC63):c.442_443insA (p.Ala148fs)insertion Pathogenic 2168 rs886041027 6:108243010-108243011 6:107921806-107921807
4 SEC63 NM_007214.5(SEC63):c.733+1G>ASNV Pathogenic 2169 rs886041028 6:108230130-108230130 6:107908926-107908926
5 SEC63 NM_007214.5(SEC63):c.1697_1699AAG[2] (p.Glu568del)short repeat Conflicting interpretations of pathogenicity 354899 rs752018806 6:108204320-108204322 6:107883116-107883118
6 SEC63 NM_007214.5(SEC63):c.1675-15G>CSNV Uncertain significance 354900 rs886060954 6:108204365-108204365 6:107883161-107883161
7 SEC63 NM_007214.5(SEC63):c.828+13T>CSNV Uncertain significance 354909 rs886060955 6:108227874-108227874 6:107906670-107906670
8 SEC63 NM_007214.5(SEC63):c.225-10T>ASNV Uncertain significance 354919 rs886060958 6:108246146-108246146 6:107924942-107924942
9 SEC63 NM_007214.5(SEC63):c.*3800A>GSNV Uncertain significance 354808 rs886060934 6:108189108-108189108 6:107867904-107867904
10 SEC63 NM_007214.5(SEC63):c.*3772G>ASNV Uncertain significance 354809 rs886060935 6:108189136-108189136 6:107867932-107867932
11 SEC63 NM_007214.5(SEC63):c.*3510T>ASNV Uncertain significance 354814 rs555871275 6:108189398-108189398 6:107868194-107868194
12 SEC63 NM_007214.5(SEC63):c.*3171G>CSNV Uncertain significance 354829 rs542434422 6:108189737-108189737 6:107868533-107868533
13 SEC63 NM_007214.5(SEC63):c.*2624T>CSNV Uncertain significance 354843 rs368337970 6:108190284-108190284 6:107869080-107869080
14 SEC63 NM_007214.5(SEC63):c.*1433T>CSNV Uncertain significance 354870 rs886060951 6:108191475-108191475 6:107870271-107870271
15 SEC63 NM_007214.5(SEC63):c.*514T>CSNV Uncertain significance 354880 rs557190642 6:108192394-108192394 6:107871190-107871190
16 SEC63 NM_007214.5(SEC63):c.*396T>CSNV Uncertain significance 354882 rs368205255 6:108192512-108192512 6:107871308-107871308
17 SEC63 NM_007214.5(SEC63):c.*2223G>ASNV Uncertain significance 354850 rs9986549 6:108190685-108190685 6:107869481-107869481
18 SEC63 NM_007214.5(SEC63):c.*129G>ASNV Uncertain significance 354887 rs552904217 6:108192779-108192779 6:107871575-107871575
19 SEC63 NM_007214.5(SEC63):c.*3210C>TSNV Uncertain significance 354828 rs570848637 6:108189698-108189698 6:107868494-107868494
20 SEC63 NM_007214.5(SEC63):c.*1108A>GSNV Uncertain significance 354877 rs560882192 6:108191800-108191800 6:107870596-107870596
21 SEC63 NM_007214.5(SEC63):c.*3704C>GSNV Uncertain significance 354811 rs554141897 6:108189204-108189204 6:107868000-107868000
22 SEC63 NM_007214.5(SEC63):c.*2833A>CSNV Uncertain significance 354839 rs886060942 6:108190075-108190075 6:107868871-107868871
23 SEC63 NM_007214.5(SEC63):c.*2607G>CSNV Uncertain significance 354844 rs549810875 6:108190301-108190301 6:107869097-107869097
24 SEC63 NM_007214.5(SEC63):c.*3434A>GSNV Uncertain significance 354823 rs886060938 6:108189474-108189474 6:107868270-107868270
25 SEC63 NM_007214.5(SEC63):c.*3107T>CSNV Uncertain significance 354833 rs778940501 6:108189801-108189801 6:107868597-107868597
26 SEC63 NM_007214.5(SEC63):c.*2876T>CSNV Uncertain significance 354837 rs375514344 6:108190032-108190032 6:107868828-107868828
27 SEC63 NM_007214.5(SEC63):c.*2862A>GSNV Uncertain significance 354838 rs886060941 6:108190046-108190046 6:107868842-107868842
28 SEC63 NM_007214.5(SEC63):c.*1113T>CSNV Uncertain significance 354876 rs886060953 6:108191795-108191795 6:107870591-107870591
29 SEC63 NM_007214.5(SEC63):c.*2522G>CSNV Uncertain significance 354845 rs886060943 6:108190386-108190386 6:107869182-107869182
30 SEC63 NM_007214.5(SEC63):c.*1941C>TSNV Uncertain significance 354853 rs886060944 6:108190967-108190967 6:107869763-107869763
31 SEC63 NM_007214.5(SEC63):c.*1685A>CSNV Uncertain significance 354866 rs558069212 6:108191223-108191223 6:107870019-107870019
32 SEC63 NM_007214.5(SEC63):c.*1471A>GSNV Uncertain significance 354869 rs886060950 6:108191437-108191437 6:107870233-107870233
33 SEC63 NM_007214.5(SEC63):c.*1343G>ASNV Uncertain significance 354873 rs886060952 6:108191565-108191565 6:107870361-107870361
34 SEC63 NM_007214.5(SEC63):c.*358T>CSNV Uncertain significance 354884 rs529945456 6:108192550-108192550 6:107871346-107871346
35 SEC63 NM_007214.5(SEC63):c.910C>A (p.Leu304Ile)SNV Uncertain significance 354908 rs745328381 6:108227703-108227703 6:107906499-107906499
36 SEC63 NM_007214.5(SEC63):c.*3819A>GSNV Uncertain significance 904008 6:108189089-108189089 6:107867885-107867885
37 SEC63 NM_007214.5(SEC63):c.*3489A>GSNV Uncertain significance 905882 6:108189419-108189419 6:107868215-107868215
38 SEC63 NM_007214.5(SEC63):c.*3456T>CSNV Uncertain significance 905883 6:108189452-108189452 6:107868248-107868248
39 SEC63 NM_007214.5(SEC63):c.*3430A>GSNV Uncertain significance 906399 6:108189478-108189478 6:107868274-107868274
40 SEC63 NM_007214.5(SEC63):c.452C>T (p.Ala151Val)SNV Uncertain significance 905039 6:108243001-108243001 6:107921797-107921797
41 SEC63 NM_007214.5(SEC63):c.374G>A (p.Arg125His)SNV Uncertain significance 905040 6:108243079-108243079 6:107921875-107921875
42 SEC63 NM_007214.5(SEC63):c.-148T>GSNV Uncertain significance 905041 6:108279361-108279361 6:107958157-107958157
43 SEC63 NM_007214.5(SEC63):c.1936-4C>TSNV Uncertain significance 907578 6:108197870-108197870 6:107876666-107876666
44 SEC63 NM_007214.5(SEC63):c.1441-9G>TSNV Uncertain significance 907579 6:108215110-108215110 6:107893906-107893906
45 SEC63 NM_007214.5(SEC63):c.1441-10C>TSNV Uncertain significance 907580 6:108215111-108215111 6:107893907-107893907
46 SEC63 NM_007214.5(SEC63):c.*1071G>CSNV Uncertain significance 907518 6:108191837-108191837 6:107870633-107870633
47 SEC63 NM_007214.5(SEC63):c.*1061G>ASNV Uncertain significance 907519 6:108191847-108191847 6:107870643-107870643
48 SEC63 NM_007214.5(SEC63):c.*1037A>GSNV Uncertain significance 907520 6:108191871-108191871 6:107870667-107870667
49 SEC63 NM_007214.5(SEC63):c.*936C>TSNV Uncertain significance 907521 6:108191972-108191972 6:107870768-107870768
50 SEC63 NM_007214.5(SEC63):c.*874A>GSNV Uncertain significance 907522 6:108192034-108192034 6:107870830-107870830

Expression for Polycystic Liver Disease 2 with or Without Kidney Cysts

Search GEO for disease gene expression data for Polycystic Liver Disease 2 with or Without Kidney Cysts.

Pathways for Polycystic Liver Disease 2 with or Without Kidney Cysts

GO Terms for Polycystic Liver Disease 2 with or Without Kidney Cysts

Sources for Polycystic Liver Disease 2 with or Without Kidney Cysts

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63 QIAGEN
68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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