Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease (PKD1)

Alias:
Polycystic Kidney Disease 1
Polycystic Kidney Disease, Adult Type
Adpkd
Pkd1
Potter Type Iii Polycystic Kidney Disease
Polycystic Kidney Disease, Adult, Type I
Apkd1
Polycystic Kidney, Type 1 Autosomal Dominant Disease
Potter Type Iii Polycystic Kidney Disease, Formerly
Polycystic Kidney Type 1 Autosomal Dominant Disease
Autosomal Dominant Polycystic Kidney Disease 1
Polycystic Kidney Disease, Adult Type I
Adult Polycystic Kidney Disease Type 1
Polycystic Kidney, Autosomal Dominant
Kidney Disease, Polycystic, Type 1
Polycystic Kidney Disease, Type 1
Polycystic Kidney Disease, Adult
Polycystic Kidney Disease Type I
Polycystic Kidney Disease Adult
Polycystic Kidney Diseases
Polycystic Kidneys
Adpkd1
Pkd-1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease, also known as polycystic kidney disease 1, is related to polycystic kidney disease 2 with or without polycystic liver disease and polycystic kidney disease, infantile severe, with tuberous sclerosis. An important gene associated with Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease is PKD1 (Polycystin 1, Transient Receptor Potential Channel Interacting), and among its related pathways/superpathways are p70S6K Signaling and Angiopoietin-like protein 8 regulatory pathway. The drugs Angiotensin II and Candesartan cilexetil have been mentioned in the context of this disorder. Affiliated tissues include kidney and liver, and related phenotypes are mitral regurgitation and mitral valve prolapse
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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421
191

Medical Symptom

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

Gene & Mutation

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Gene
Function
Score
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
Journal
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IF
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