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Condition report · Metabolic

Primary Hyperoxaluria

A hereditary disorder characterized by excessive oxalate production, leading to hyperoxaluria.

A condition report looks for rare variants known to cause the conditions it covers.

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What your report covers

The 2 conditions we analyse

Primary Hyperoxaluria

Autosomal recessive

A hereditary disorder characterized by excessive oxalate production, leading to hyperoxaluria.

Genes analysed

Also known as

hyperoxaluria, primary

Includes 3 related subtypes ↓
  • primary hyperoxaluria type 1
  • primary hyperoxaluria type 2
  • primary hyperoxaluria type 3
MONDO:0002474Orphanet 416MedGen 5697

Alanine Glyoxylate Aminotransferase Deficiency

Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGXT gene.

Genes analysed

Also known as

AGXT defect; AGXT deficiency

Includes 1 related subtype ↓
  • primary hyperoxaluria type 1
MONDO:0100278

Other metabolic conditions

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