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Details on Person Lesch-Nyhan syndrome

Class:IdDisease:9734170
_displayNameLesch-Nyhan syndrome
_timestamp2021-06-15 14:51:14
created[InstanceEdit:9734161] D'Eustachio, Peter, 2021-06-15
identifier1919
nameLesch-Nyhan syndrome
referenceDatabase[ReferenceDatabase:1247631] DOID
synonymLesch - Nyhan syndrome
X-linked hyperuricemia
hypoxanthine guanine phosphoribosyltransferase deficiency
HG-PRT deficiency
deficiency of IMP pyrophosphorylase
Complete hypoxanthine-guanine phosphoribosyltransferase deficiency
Hypoxanthine-guanine phosphoribosyltransferase deficiency
Hypoxanthine-guanine-phosphoribosyltransferase deficiency
(disease)[FailedReaction:9734274] Defective HPRT1 does not convert guanine or hypoxanthine to GMP or IMP [Homo sapiens]
[Pathway:9734281] Defective HPRT1 disrupts guanine and hypoxanthine salvage [Homo sapiens]
[EntityWithAccessionedSequence:9734264] HPRT1 G140D [cytosol] [Homo sapiens]
[DefinedSet:9734267] HPRT1 tetramer mutants [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9734269] HPRT1 D194N [cytosol] [Homo sapiens]
[Complex:9734271] HPRT1 G70E tetramer [cytosol] [Homo sapiens]
[Complex:9734275] HPRT1 G140D tetramer [cytosol] [Homo sapiens]
[Complex:9734280] HPRT1 D194N tetramer [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9734286] HPRT1 G70E [cytosol] [Homo sapiens]
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No pathways have been reviewed or authored by Lesch-Nyhan syndrome (9734170)