Details of Disease

General Information of Disease (ID: DISH99SV)

• Disease Name: Hypoxanthine guanine phosphoribosyltransferase partial deficiency
• Synonyms: Hprt1 deficiency, partial; HPRT deficiency, partial; hypoxanthine guanine phosphoribosyltransferase 1 deficiency, partial; KELLEY-Seegmiller syndrome; gout, HPRT-related; hypoxanthine guanine phosphoribosyltransferase deficiency, grade I; Kelley-Seegmiller syndrome; HPRT partial deficiency; HPRT-related hyperuricemia; hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency; HPRT deficiency, grade I; HPRT-related gout; HPRT1 partial deficiency; hyperuricemia, HRPT-related, X-linked recessive
• Definition: Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout.
• Disease Hierarchy:
  DIS92BAW: Hypoxanthine-guanine phosphoribosyltransferase deficiency
  DISH99SV: Hypoxanthine guanine phosphoribosyltransferase partial deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0010299
  MESH ID: C562583
  UMLS CUI: C0268117
  OMIM ID: 300323
  MedGen ID: 82770
  Orphanet ID: 79233
  SNOMED CT ID: 238007004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
HPRT1	DEVXTP5	Strong	Genetic Variation	[1]
HPRT1	DEVXTP5	Definitive	X-linked recessive	[2]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ALDH16A1	OT50NI6Z	Limited	Biomarker	[3]
HPRT1	OTOEEEXG	Definitive	X-linked recessive	[2]

References

• [1] 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.
• [2] Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
• [3] ALDH16A1 is a novel non-catalytic enzyme that may be involved in the etiology of gout via protein-protein interactions with HPRT1. Chem Biol Interact. 2013 Feb 25;202(1-3):22-31.