Details of Disease | DrugMAP

General Information of Disease (ID: DIS4B865)

Disease Name	Purine metabolism disease
Synonyms	disorder of purine metabolism; purine nucleobase metabolic process disease; disorder of purine nucleobase metabolic process
Definition	A disease that has its basis in the disruption of purine nucleobase metabolic process.
Disease Hierarchy	DIS71G5H: Metabolic disorder DISWD40R: Disease DIS4B865: Purine metabolism disease
Disease Identifiers	MONDO ID MONDO_0037829 UMLS CUI C0268104 MedGen ID 541199 SNOMED CT ID 32612005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SCN4A	TT84DRB	moderate	Biomarker	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
HPRT1	DEVXTP5	Strong	Genetic Variation	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PFKM	OT1QY9JM	moderate	Biomarker	[1]
PGAM2	OT9BE03I	moderate	Biomarker	[1]
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References

1	Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.Pediatr Nephrol. 2017 Dec;32(12):2273-2282. doi: 10.1007/s00467-017-3755-8. Epub 2017 Aug 5.
2	Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein.Nucleosides Nucleotides Nucleic Acids. 2017 Feb;36(2):151-157. doi: 10.1080/15257770.2016.1231319. Epub 2017 Jan 3.