FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Lesch-Nyhan syndrome ID (Ontology) DOID:1919 (Human Disease)
Definition A purine-pyrimidine metabolic disorder characterized by mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips that has_material_basis_in mutation in the HPRT1 gene on chromosome Xq26.
Also Known As "Complete hypoxanthine-guanine phosphoribosyltransferase deficiency" ; "deficiency of IMP pyrophosphorylase" ; "HG-PRT deficiency" (for all, see Synonyms field below)
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       3
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 Alleles Genes
 Lesch-Nyhan syndrome       3      2
 model of | Lesch-Nyhan syndrome       3       --
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__X-linked recessive disease____________
inherited metabolic disorder              |
 |__purine-pyrimidine metabolic disorder__|
                                          Lesch-Nyhan syndrome  5 rec.
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Is a X-linked recessive disease
purine-pyrimidine metabolic disorder
Part of
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Synonyms
  • "Complete hypoxanthine-guanine phosphoribosyltransferase deficiency" EXACT
    "deficiency of IMP pyrophosphorylase" EXACT
    "HG-PRT deficiency" EXACT
    "HPRT1 deficiency" EXACT
    "hypoxanthine guanine phosphoribosyltransferase deficiency" EXACT
    "Hypoxanthine-guanine phosphoribosyltransferase deficiency" EXACT
    "Hypoxanthine-guanine-phosphoribosyltransferase deficiency" EXACT
    "Lesch - Nyhan syndrome" EXACT
    "X-linked hyperuricemia" EXACT
Secondary IDs
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ICD10CM:E79.1
MESH:D007926
MIM:300322
NCI:C61255
SNOMEDCT_US_2023_03_01:190918000
UMLS_CUI:C0023374