Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
- Synonyms
- GOUT, HPRT-RELATED; Gout, HPRT1-Related; HPRT DEFICIENCY, PARTIAL; HPRT1 DEFICIENCY, PARTIAL; HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1 DEFICIENCY, PARTIAL
- Modes of inheritance
- X-linked recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:HPRT1 disorders, caused by deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGprt), are typically associated with clinical evidence for overproduction of uric acid (hyperuricemia, nephrolithiasis, and/or gouty arthritis) and varying degrees of neurologic and/or behavioral problems. Historically, three phenotypes were identified in the spectrum of HPRT1 disorders: Lesch-Nyhan disease (LND) at the most severe end with motor dysfunction resembling severe cerebral palsy, intellectual disability, and self-injurious behavior; HPRT1-related neurologic dysfunction (HND) in the intermediate range with similar but fewer severe neurologic findings than LND and no self-injurious behavior; and HPRT1-related hyperuricemia (HRH) at the mild end without overt neurologic deficits. It is now recognized that these neurobehavioral phenotypes cluster along a continuum from severe to mild.
- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Hyder A Jinnah
- view full author information
Available tests
39 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of metabolism/homeostasis
- Hyperuricemia
Hyperuricemia
- MedGen UID: 149260
- Concept ID: C0740394
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Hyperuricemia
- Abnormality of the genitourinary system
- Hyperuricosuria
Hyperuricosuria
- MedGen UID: 182691
- Concept ID: C0948643
- Finding: Finding
Abnormality of the genitourinary system
- Nephrolithiasis
Nephrolithiasis
- MedGen UID: 98227
- Concept ID: C0392525
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Renal insufficiency
Renal insufficiency
- MedGen UID: 332529
- Concept ID: C1565489
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Hyperuricosuria
- Abnormality of the musculoskeletal system
- Podagra
Podagra
- MedGen UID: 450998
- Concept ID: C0221168
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Podagra
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