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 57 73
Polycystic Liver Disease 2 57 29 6
Pcld2 57 73
Liver Disease, Polycystic, Type 2 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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® 57 617004
OMIM Phenotypic Series 57 PS174050
SNOMED-CT via HPO 68 263681008 80515008 85057007

Summaries for Polycystic Liver Disease 2 with or Without Kidney Cysts

OMIM® : 57 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) (Updated 05-Mar-2021)

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®:

57 (Updated 05-Mar-2021)
Abdomen Liver:
hepatomegaly
liver cysts

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

Clinical features from OMIM®:

617004 (Updated 05-Mar-2021)

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. 57 6
15133510 2004
2
Polycystic liver disease: an overview of pathogenesis, clinical manifestations and management. 57
24886261 2014
3
Isolated polycystic liver disease as a distinct genetic disease, unlinked to polycystic kidney disease 1 and polycystic kidney disease 2. 57
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 139)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SEC63 NM_007214.5(SEC63):c.173G>A (p.Trp58Ter) SNV Pathogenic 2167 rs119103233 6:108250670-108250670 6:107929466-107929466
2 SEC63 NM_007214.5(SEC63):c.442_443insA (p.Ala148fs) Insertion Pathogenic 2168 rs886041027 6:108243010-108243011 6:107921806-107921807
3 SEC63 NM_007214.5(SEC63):c.733+1G>A SNV Pathogenic 2169 rs886041028 6:108230130-108230130 6:107908926-107908926
4 SEC63 NM_007214.5(SEC63):c.1697_1699AAG[2] (p.Glu568del) Microsatellite Pathogenic 354899 rs752018806 6:108204320-108204322 6:107883116-107883118
5 SEC63 NM_007214.5(SEC63):c.514+1G>A SNV Pathogenic 522474 rs1554236269 6:108234569-108234569 6:107913365-107913365
6 SEC63 NM_007214.5(SEC63):c.1124A>G (p.Gln375Arg) SNV Likely pathogenic 992380 6:108224133-108224133 6:107902929-107902929
7 SEC63 NM_007214.5(SEC63):c.*24T>C SNV Uncertain significance 906563 6:108192884-108192884 6:107871680-107871680
8 SEC63 NM_007214.5(SEC63):c.*3819A>G SNV Uncertain significance 904008 6:108189089-108189089 6:107867885-107867885
9 SEC63 NM_007214.5(SEC63):c.*3032A>G SNV Uncertain significance 904070 6:108189876-108189876 6:107868672-107868672
10 SEC63 NM_007214.5(SEC63):c.*2946C>T SNV Uncertain significance 904071 6:108189962-108189962 6:107868758-107868758
11 SEC63 NM_007214.5(SEC63):c.*2791T>C SNV Uncertain significance 904072 6:108190117-108190117 6:107868913-107868913
12 SEC63 NM_007214.5(SEC63):c.*1832A>G SNV Uncertain significance 904137 6:108191076-108191076 6:107869872-107869872
13 SEC63 NM_007214.5(SEC63):c.*1760T>C SNV Uncertain significance 904138 6:108191148-108191148 6:107869944-107869944
14 SEC63 NM_007214.5(SEC63):c.*1725G>C SNV Uncertain significance 904139 6:108191183-108191183 6:107869979-107869979
15 SEC63 NM_007214.5(SEC63):c.*1696G>A SNV Uncertain significance 904140 6:108191212-108191212 6:107870008-107870008
16 SEC63 NM_007214.5(SEC63):c.*577C>T SNV Uncertain significance 904191 6:108192331-108192331 6:107871127-107871127
17 SEC63 NM_007214.5(SEC63):c.*549C>T SNV Uncertain significance 904192 6:108192359-108192359 6:107871155-107871155
18 SEC63 NM_007214.5(SEC63):c.*437A>G SNV Uncertain significance 904193 6:108192471-108192471 6:107871267-107871267
19 SEC63 NM_007214.5(SEC63):c.*432G>T SNV Uncertain significance 904194 6:108192476-108192476 6:107871272-107871272
20 SEC63 NM_007214.5(SEC63):c.*432G>A SNV Uncertain significance 904195 6:108192476-108192476 6:107871272-107871272
21 SEC63 NM_007214.5(SEC63):c.*2783G>A SNV Uncertain significance 904848 6:108190125-108190125 6:107868921-107868921
22 SEC63 NM_007214.5(SEC63):c.*2704A>G SNV Uncertain significance 904849 6:108190204-108190204 6:107869000-107869000
23 SEC63 NM_007214.5(SEC63):c.*2618C>A SNV Uncertain significance 904850 6:108190290-108190290 6:107869086-107869086
24 SEC63 NM_007214.5(SEC63):c.*1655G>A SNV Uncertain significance 904914 6:108191253-108191253 6:107870049-107870049
25 SEC63 NM_007214.5(SEC63):c.*1650G>A SNV Uncertain significance 904915 6:108191258-108191258 6:107870054-107870054
26 SEC63 NM_007214.5(SEC63):c.*1568G>A SNV Uncertain significance 904916 6:108191340-108191340 6:107870136-107870136
27 SEC63 NM_007214.5(SEC63):c.*1475C>T SNV Uncertain significance 904917 6:108191433-108191433 6:107870229-107870229
28 SEC63 NM_007214.5(SEC63):c.*273A>C SNV Uncertain significance 904975 6:108192635-108192635 6:107871431-107871431
29 SEC63 NM_007214.5(SEC63):c.452C>T (p.Ala151Val) SNV Uncertain significance 905039 6:108243001-108243001 6:107921797-107921797
30 SEC63 NM_007214.5(SEC63):c.374G>A (p.Arg125His) SNV Uncertain significance 905040 6:108243079-108243079 6:107921875-107921875
31 SEC63 NM_007214.5(SEC63):c.-148T>G SNV Uncertain significance 905041 6:108279361-108279361 6:107958157-107958157
32 SEC63 NM_007214.5(SEC63):c.*3489A>G SNV Uncertain significance 905882 6:108189419-108189419 6:107868215-107868215
33 SEC63 NM_007214.5(SEC63):c.*3456T>C SNV Uncertain significance 905883 6:108189452-108189452 6:107868248-107868248
34 SEC63 NM_007214.5(SEC63):c.*3430A>G SNV Uncertain significance 906399 6:108189478-108189478 6:107868274-107868274
35 SEC63 NM_007214.5(SEC63):c.*2876T>C SNV Uncertain significance 354837 rs375514344 6:108190032-108190032 6:107868828-107868828
36 SEC63 NM_007214.5(SEC63):c.*2465C>T SNV Uncertain significance 906465 6:108190443-108190443 6:107869239-107869239
37 SEC63 NM_007214.5(SEC63):c.*2379G>C SNV Uncertain significance 906466 6:108190529-108190529 6:107869325-107869325
38 SEC63 NM_007214.5(SEC63):c.*2301A>G SNV Uncertain significance 906467 6:108190607-108190607 6:107869403-107869403
39 SEC63 NM_007214.5(SEC63):c.*2287G>T SNV Uncertain significance 906468 6:108190621-108190621 6:107869417-107869417
40 SEC63 NM_007214.5(SEC63):c.*1420T>G SNV Uncertain significance 906510 6:108191488-108191488 6:107870284-107870284
41 SEC63 NM_007214.5(SEC63):c.*3133C>A SNV Uncertain significance 907404 6:108189775-108189775 6:107868571-107868571
42 SEC63 NM_007214.5(SEC63):c.*3116T>C SNV Uncertain significance 907405 6:108189792-108189792 6:107868588-107868588
43 SEC63 NM_007214.5(SEC63):c.*2131C>T SNV Uncertain significance 907455 6:108190777-108190777 6:107869573-107869573
44 SEC63 NM_007214.5(SEC63):c.*2041A>G SNV Uncertain significance 907456 6:108190867-108190867 6:107869663-107869663
45 SEC63 NM_007214.5(SEC63):c.*1931A>C SNV Uncertain significance 907457 6:108190977-108190977 6:107869773-107869773
46 SEC63 NM_007214.5(SEC63):c.*1071G>C SNV Uncertain significance 907518 6:108191837-108191837 6:107870633-107870633
47 SEC63 NM_007214.5(SEC63):c.*1061G>A SNV Uncertain significance 907519 6:108191847-108191847 6:107870643-107870643
48 SEC63 NM_007214.5(SEC63):c.*1037A>G SNV Uncertain significance 907520 6:108191871-108191871 6:107870667-107870667
49 SEC63 NM_007214.5(SEC63):c.*936C>T SNV Uncertain significance 907521 6:108191972-108191972 6:107870768-107870768
50 SEC63 NM_007214.5(SEC63):c.*874A>G SNV 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

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....