Hyperoxaluria, Primary, Type I (HP1)

Alias:

Primary Hyperoxaluria Type 1

Glycolic Aciduria

Alanine-Glyoxylate Aminotransferase Deficiency

Hp1

Peroxisomal Alanine-Glyoxylate Aminotransferase Deficiency

Primary Hyperoxaluria, Type I

Hepatic Agt Deficiency

Oxalosis I

Serine Pyruvate Aminotransferase Deficiency

Hyperoxaluria, Primary, Type 1

Peroxisomal Alanine:glyoxylate Aminotransferase Deficiency

Peroxisomal Alanine Glyoxylate Aminotransferase Deficiency

2-Oxoglutarate Glyoxylate Carboligase Deficiency

Alanine Glyoxylate Aminotransferase Deficiency

Serine:pyruvate Aminotransferase Deficiency

Hyperoxaluria Primary Type I

Primary Hyperoxaluria Type I

Hyperoxaluria Primary 1

Oxalosis Type 1

Ph1

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Hyperoxaluria, Primary, Type I, also known as primary hyperoxaluria type 1, is related to primary hyperoxaluria and acute promyelocytic leukemia, and has symptoms including bone pain An important gene associated with Hyperoxaluria, Primary, Type I is AGXT (Alanine--Glyoxylate Aminotransferase), and among its related pathways/superpathways are Gene expression (Transcription) and RNA Polymerase I Promoter Opening. The drugs Lumasiran and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include kidney and eye, and related phenotypes are anemia and nephrolithiasis

Related ID：

MALACARDS：HYP794

OMIM：259900

MESH：C536414

ICD11：692812009