HPRT1

hypoxanthine phosphoribosyltransferase 1

2 disorders 1 no genetic record 1 untyped Xq26.2-q26.3 gene with protein product

HGNC:5157 Monarch NCBI Gene 3251 ENSG00000165704 UniProt P00492 OMIM 308000

Previous symbols: HPRT. Aliases: HGPRT.

Normal function · from ai-gene-review (P00492, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Lesch-Nyhan Syndrome	untyped Loss-of-function mutations	mechanism: HPRT1 Enzyme Deficiency and Purine Overproduction
Gout	no genetic record	computational model: Minimal Urate Homeostasis Model

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
Lesch-Nyhan syndrome MONDO:0010298	XL	Definitive 2022-07-07	Lesch-Nyhan Syndrome untyped

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.