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 1 - 10 of 17 in total
Gene ID Gene Symbol Description Source
207 AKT1 AKT serine/threonine kinase 1
929 CD14 CD14 molecule
960 CD44 CD44 molecule (IN blood group)
1579 CYP4A11 cytochrome P450 family 4 subfamily A member 11
1636 ACE angiotensin I converting enzyme
4351 MPI mannose phosphate isomerase
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
5310 PKD1 polycystin 1, transient receptor potential channel interacting
5311 PKD2 polycystin 2, transient receptor potential cation channel
7369 UMOD uromodulin
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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Last updated: August 19, 2024