Entry Name Primary hyperoxaluria
Description Primary hyperoxaluria (PH) is an autosomal recessive disorder characterized by the overproduction of oxalate.
Category Inherited metabolic disorder
Brite Human diseases in ICD-11 classification [BR:br08403 ] BRITE hierarchy Pathway hsa00630 Glyoxylate and dicarboxylate metabolism
Gene Drug Other DBs Reference Authors Danpure CJ
Title Primary hyperoxaluria type 1: AGT mistargeting highlights the fundamental differences between the peroxisomal and mitochondrial protein import pathways.
Journal Reference Authors Leumann E, Hoppe B
Title The primary hyperoxalurias.
Journal J Am Soc Nephrol 12:1986-93 (2001)
Reference Authors Kemper MJ, Conrad S, Muller-Wiefel DE
Title Primary hyperoxaluria type 2.
Journal Reference Authors Nishiyama K, Funai T, Katafuchi R, Hattori F, Onoyama K, Ichiyama A
Title Primary hyperoxaluria type I due to a point mutation of T to C in the coding region of the serine:pyruvate aminotransferase gene.
Journal Reference Authors Cramer SD, Ferree PM, Lin K, Milliner DS, Holmes RP
Title The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II.
Journal Reference Authors M'dimegh S, Aquaviva-Bourdain C, Omezzine A, Souche G, M'barek I, Abidi K, Gargah T, Abroug S, Bouslama A
Title HOGA1 Gene Mutations of Primary Hyperoxaluria Type 3 in Tunisian Patients.
Journal LinkDB All DBs
