Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease (PKD2)

Alias:
Polycystic Kidney Disease 2
Pkd2
Polycystic Kidney Disease, Adult, Type Ii
Polycystic Kidney Disease, Type 2
Apkd2
Polycystic Kidney Type 2 Autosomal Dominant Disease
Autosomal Dominant Polycystic Kidney Disease 2
Polycystic Kidney Disease Adult Type Ii
Adult Polycystic Kidney Disease Type 2
Kidney Disease, Polycystic, Type 2
Adpkd2
Pkd-2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease, also known as polycystic kidney disease 2, is related to end stage renal disease and polycystic liver disease 1 with or without kidney cysts. An important gene associated with Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease is PKD2 (Polycystin 2, Transient Receptor Potential Cation Channel), and among its related pathways/superpathways are Bardet-Biedl syndrome and Ciliopathies. The drugs Temsirolimus and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include kidney and liver, and related phenotypes are facial asymmetry and midface retrusion
Related ID:

Basic Information

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