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GENATLAS PHENOTYPE

last update : 24-09-2010

Symbol	PHXL3
Location	10q24.1
Name	hyperoxaluria, primary, type III
Corresponding gene	HOGA1
Main clinical features	characterized by accumulation of calcium oxalate primarily in the kidney nephrolithiasis, nephrocalcinosis leading to oxalosis and sometimes to renal failure and systemic oxalate deposition, in infancy, hematuria, pain, and/or urinary tract infection
Genetic determination	autosomal recessive
Function/system disorder	metabolism/aminoacids
Type	disease

Remark(s)

. Inhibitors of 4-hydroxy-2-oxoglutarate aldolase encoded by this gene should be the optimal treatment for children with this form (PMID: 20797690))