KEGG   DISEASE: Primary hyperoxaluria
Entry
H00117                      Disease                                

Name
Primary hyperoxaluria
Description
Primary hyperoxaluria (HP) is an autosomal recessive disorder characterized by the overproduction of oxalate.
Category
Inherited metabolic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of carbohydrate metabolism
   H00117  Primary hyperoxaluria
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C51  Inborn errors of carbohydrate metabolism
     H00117  Primary hyperoxaluria
Pathway
hsa00260  Glycine, serine and threonine metabolism
hsa00630  Glyoxylate and dicarboxylate metabolism
Gene
(HP1) AGXT; alanine-glyoxylate aminotransferase [HSA:189] [KO:K00830]
(HP2) GRHPR; glyoxylate reductase/hydroxypyruvate reductase [HSA:9380] [KO:K00049]
Other DBs
ICD-11: 5C51.2
ICD-10: E74.8
MeSH: D006960
OMIM: 259900 260000
Reference
  Authors
Danpure CJ
  Title
Primary hyperoxaluria type 1: AGT mistargeting highlights the fundamental differences between the peroxisomal and mitochondrial protein import pathways.
  Journal
Biochim Biophys Acta 1763:1776-84 (2006)
DOI:10.1016/j.bbamcr.2006.08.021
Reference
  Authors
Leumann E, Hoppe B
  Title
The primary hyperoxalurias.
  Journal
J Am Soc Nephrol 12:1986-93 (2001)
Reference
PMID:9243228
  Authors
Kemper MJ, Conrad S, Muller-Wiefel DE
  Title
Primary hyperoxaluria type 2.
  Journal
Eur J Pediatr 156:509-12 (1997)
DOI:10.1007/s004310050649
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