autosomal recessive polycystic kidney disease

Summary
Synonym
  • Arpkd
  • Pkhd1
  • Polycystic Kidney Disease, Infantile, Type I
  • Polycystic Kidney and Hepatic Disease 1
Definition
A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion.
Super Class
autosomal recessive disease polycystic kidney disease
Related Genes
Displaying entries 11 - 17 of 17 in total
Gene ID Gene Symbol Description Source
9420 CYP7B1 cytochrome P450 family 7 subfamily B member 1
10908 PNPLA6 patatin like phospholipase domain containing 6
22845 DOLK dolichol kinase
56623 INPP5E inositol polyphosphate-5-phosphatase E
148738 HJV hemojuvelin BMP co-receptor
284541 CYP4A22 cytochrome P450 family 4 subfamily A member 22
285203 EOGT EGF domain specific O-linked N-acetylglucosamine transferase
Displaying all 2 entries
Gene ID Gene Symbol Description Source
11651 Akt1 thymoma viral proto-oncogene 1
18706 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
Displaying all 2 entries
Gene ID Gene Symbol Description Source
24185 Akt1 AKT serine/threonine kinase 1
170911 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha

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Acknowledgements

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Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024