Details of Disease

General Information of Disease (ID: DISGXKU7)

• Disease Name: Lesch-Nyhan syndrome
• Synonyms: Lesch Nyhan disease; HPRT deficiency, complete; hypoxanthine-guanine-phosphoribosyltransferase deficiency (& [Lesch - Nyhan syndrome]); LNS; HPRT deficiency; Lesch Nyhan syndrome; Hprt1 deficiency; hypoxanthine guanine phosphoribosyltransferase 1 deficiency; HPRT deficiency, neurologic variant; hypoxanthine guanine phospho-ribosyltransferase 1 deficiency; Lesch-Nyhan syndrome, neurologic variant; HPRT complete deficiency; X-linked hyperuricemia; complete hypoxanthine-guanine phosphoribosyltransferase deficiency; HG-PRT deficiency; Lesch - Nyhan syndrome; hypoxanthine guanine phosphoribosyltransferase complete deficiency; Lesch Nyhan Syndrome; Lesch-Nyhan syndrome; HPRT deficiency grade IV; hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV; X-linked hyperuricemia (disorder) [ambiguous]; deficiency of IMP pyrophosphorylase; Lesch-Nyhan syndrome, X-linked recessive
• Definition: Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DIS92BAW: Hypoxanthine-guanine phosphoribosyltransferase deficiency
  DISGXKU7: Lesch-Nyhan syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0010298
  MESH ID: D007926
  UMLS CUI: C0023374
  OMIM ID: 300322
  MedGen ID: 9721
  Orphanet ID: 510
  SNOMED CT ID: 10406007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ATIC	TT9NVXQ	Strong	Genetic Variation	[1]
DRD5	TTS2PH3	Strong	Altered Expression	[2]
PDE10A	TTJW4LU	Strong	Biomarker	[3]
SLC22A12	TTA592U	Strong	Genetic Variation	[4]
SLC2A9	TTIF3GB	Strong	Altered Expression	[4]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC2A6	DTS4MKQ	Strong	Altered Expression	[4]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
HPRT1	DEVXTP5	Definitive	X-linked	[5]

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PANK2	OTFBW889	Strong	Biomarker	[6]
PRTFDC1	OTKJ44KY	Strong	Biomarker	[7]
RNASE1	OTKZ7CO9	Strong	Biomarker	[8]
HPRT1	OTOEEEXG	Definitive	X-linked	[5]

References

• [1] New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients.Orphanet J Rare Dis. 2015 Jan 23;10:7. doi: 10.1186/s13023-014-0219-0.
• [2] Adenosine, dopamine and serotonin receptors imbalance in lymphocytes of Lesch-Nyhan patients.J Inherit Metab Dis. 2012 Nov;35(6):1129-35. doi: 10.1007/s10545-012-9470-5. Epub 2012 Mar 9.
• [3] HPRT-deficiency dysregulates cAMP-PKA signaling and phosphodiesterase 10A expression: mechanistic insight and potential target for Lesch-Nyhan Disease?.PLoS One. 2013 May 14;8(5):e63333. doi: 10.1371/journal.pone.0063333. Print 2013.
• [4] GLUT9 influences uric acid concentration in patients with Lesch-Nyhan disease.Int J Rheum Dis. 2018 Jun;21(6):1270-1276. doi: 10.1111/1756-185X.13323.
• [5] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
• [6] Tongue Protrusion Dystonia in Pantothenate Kinase-Associated Neurodegeneration.Pediatr Neurol. 2020 Feb;103:76-78. doi: 10.1016/j.pediatrneurol.2019.06.004. Epub 2019 Jun 13.
• [7] PRTFDC1 is a genetic modifier of HPRT-deficiency in the mouse.PLoS One. 2011;6(7):e22381. doi: 10.1371/journal.pone.0022381. Epub 2011 Jul 27.
• [8] Identification and localization of mutations at the Lesch-Nyhan locus by ribonuclease A cleavage.Science. 1987 Apr 17;236(4799):303-5. doi: 10.1126/science.3563511.