GenTIGSA Gene Database on Rare Genetic Disorders
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Primary Hyperoxaluria, Type I  
Disease Aliases (23)

2-oxoglutarate glyoxylate carboligase deficiency

Agxt primary hyperoxaluria

Alanine-glyoxylate aminotransferase deficiency

Alanine-glycoxylate aminotransferase deficiency

Glycolic aciduria

Hepatic agt deficiency

Hp1

Hyperoxaluria, primary, type i

Oxalosis i

Oxalosis 1

Oxalosis type i

Peroxisomal alanine:glyoxylate aminotransferase deficiency

Ph1

Peroxisomal alanine glyoxylate aminotransferase deficiency

Peroxisomal alanine-glyoxylate aminotransferase deficiency

Primary hyperoxaluria type i

Primary hyperoxaluria type 1

Primary hyperoxaluria, type i

Serine:pyruvate aminotransferase deficiency

Serine pyruvate aminotransferase deficiency

Hyperoxaluria, primary, type 1

Hyperoxaluria, primary, type i; hp1

Primary hyperoxaluria caused by mutation in agxt

Associated Genes (1)
 

NCBI-RefSeq:  AGXT   (Alanine--glyoxylate and serine--pyruvate aminotransferase)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Primary hyperoxaluria, type I OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations