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Start free with EleplanHypoxanthine-guanine phosphoribosyltransferase deficiency
ORPHA:206428Clinical group
Also called HPRT deficiency · HPRT1 deficiency · Hypoxanthine-guanine phosphoribosyltransferase 1 deficiency
What it is
A group of rare hereditary disorders of purine metabolism characterized by uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency.
Key facts
- Age of onset
- Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal
- Inheritance
- X-linked recessive
- Classified as
- Clinical group
Genes reported in subtypes
Orphanet records this gene on 2 more specific entries under this disorder, not on this entry itself:
A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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