Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease (PKD4)

Alias:
Autosomal Recessive Polycystic Kidney Disease
Arpkd
Polycystic Kidney Disease, Autosomal Recessive
Polycystic Kidney Disease, Infantile, Type I
Polycystic Kidney and Hepatic Disease 1
Polycystic Kidney Disease 4 with or Without Hepatic Disease
Pkhd1
Polycystic Kidney, Autosomal Recessive
Pkd3, Formerly
Ar-Pkd
Pkd4
Polycystic Kidney Disease 4, with or Without Polycystic Liver Disease
Kidney, Polycystic, Disease, Type 4, with/without Hepatic Disease
Polycystic Kidney Disease 4, with or Without Hepatic Disease
Polycystic Kidney Disease 3, Autosomal Dominant
Infantile Polycystic Kidney Disease Type I
Polycystic Kidney Disease 4
Arpkd/chf
Pkd3
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease, also known as autosomal recessive polycystic kidney disease, is related to polycystic kidney disease and polycystic kidney disease 4. An important gene associated with Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease is PKHD1 (PKHD1 Ciliary IPT Domain Containing Fibrocystin/Polyductin), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. The drugs Tolvaptan and Vasopressins have been mentioned in the context of this disorder. Affiliated tissues include kidney and liver, and related phenotypes are hypertension and hepatic fibrosis
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
All ages
1-9/100000
79
646
275

Medical Symptom

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

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

Title
PMID
Journal
Year
IF
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