primary hyperoxaluria type 1

Term ID

DOID:0111670

Synonyms

• alanine-glyoxylate aminotransferase deficiency
• glycolic aciduria
• hepatic AGT deficiency
• HP1
• oxalosis I
• peroxisomal alanine-glyoxylate aminotransferase deficiency
• serine pyruvate aminotransferase deficiency

Definition

A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumulation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in the AGXT gene on chromosome 2q37.3. (2)

References

• GARD:2835
• MESH:C536414
• NCI:C123212
• OMIM:259900
• ORDO:93598
• SNOMEDCT_US_2023_03_01:65520001
• UMLS_CUI:C0268164

Ontology

Human Disease   ( DOID:0111670 )