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Ontology Browser

primary hyperoxaluria type 3 (DOID:0111672)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
photosensitive trichothiodystrophy 1  
photosensitive trichothiodystrophy 2  
photosensitive trichothiodystrophy 3  
primary hyperoxaluria type 1  
primary hyperoxaluria type 2  
primary hyperoxaluria type 3  
Primary hyperoxaluria is an autosomal recessive disorder of glyoxylate metabolism that results in excessive endogenous oxalate synthesis and the formation of calcium oxalate kidney stones. Progressive renal inflammation and interstitial fibrosis from advanced nephrocalcinosis, recurrent urolithiasis, and urinary tract infections can cause reduced renal function, systemic oxalate deposition, and end-stage renal failure. Compared to hyperoxaluria type I (HP1) and type II (HP2), HP3 appears to be the least severe, with good preservation of kidney function in most patients. The typical clinical characteristic is early onset of recurrent urolithiasis, but less active stone formation later. HP3 is caused by homozygous or compound heterozygous mutation in the DHDPSL gene on chromosome 10q24. (OMIM)

Exact Synonyms: HP3 ;   PH III ;   primary hyperoxaluria type III
Primary IDs: OMIM:613616
Xrefs: GARD:10738 ;   NCI:C123214 ;   ORDO:93600
Definition Sources: "DO", "DO"

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.