Polycystic Liver Disease 1 with or Without Kidney Cysts (PCLD1)

Alias:
Polycystic Liver Disease 1
Pcld1
Cyst
Liver Disease, Polycystic, Type 1
Polycystic Liver Disease
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Polycystic Liver Disease 1 with or Without Kidney Cysts, also known as polycystic liver disease 1, is related to bile duct cysts and benign teratoma, and has symptoms including hepatosplenomegaly An important gene associated with Polycystic Liver Disease 1 with or Without Kidney Cysts is PRKCSH (Protein Kinase C Substrate 80K-H), and among its related pathways/superpathways are Cytoskeletal Signaling and Bardet-Biedl syndrome. The drugs Diclofenac and Levonorgestrel have been mentioned in the context of this disorder. Affiliated tissues include liver and kidney, and related phenotypes are elevated circulating alkaline phosphatase concentration and abnormality of the cardiovascular system
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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24
241
14

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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