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Partial hypoxanthine-guanine phosphoribosyltransferase deficiency(HRH)

MedGen UID:
82770
•Concept ID:
C0268117
•
Disease or Syndrome
Synonyms: GOUT, HPRT-RELATED; Gout, HPRT1-Related; HPRT DEFICIENCY, PARTIAL; HPRT1 DEFICIENCY, PARTIAL; HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1 DEFICIENCY, PARTIAL
SNOMED CT: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency (238007004); Partial HGPRT deficiency (238007004)
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
•Concept ID:
C1845977
•
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
See: This record
X-linked recessive inheritance (Orphanet)
 
Gene (location): HPRT1 (Xq26.2-26.3)
 
Monarch Initiative: MONDO:0010299
OMIM®: 300323
Orphanet: ORPHA79233

Disease characteristics

Excerpted from the GeneReview: HPRT1 Disorders
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. [from GeneReviews]
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

Additional description

From OMIM
Virtually complete deficiency of HPRT residual activity is associated with the Lesch-Nyhan syndrome (LNS; 300322), whereas partial deficiency (at least 8%) is associated with the Kelley-Seegmiller syndrome. LNS is characterized by abnormal metabolic and neurologic manifestations. In contrast, Kelley-Seegmiller syndrome is usually associated only with the clinical manifestations of excessive purine production. Renal stones, uric acid nephropathy, and renal obstruction are often the presenting symptoms of Kelley-Seegmiller syndrome, but rarely of LNS. After puberty, the hyperuricemia in Kelley-Seegmiller syndrome may cause gout (summary by Zoref-Shani et al., 2000).  http://www.omim.org/entry/300323

Clinical features

From HPO
Nephrolithiasis
MedGen UID:
98227
•Concept ID:
C0392525
•
Disease or Syndrome
The presence of calculi (stones) in the kidneys.
See: Feature record | Search on this feature
Hyperuricosuria
MedGen UID:
182691
•Concept ID:
C0948643
•
Finding
An abnormally high level of uric acid in the urine.
See: Feature record | Search on this feature
Renal insufficiency
MedGen UID:
332529
•Concept ID:
C1565489
•
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
See: Feature record | Search on this feature
Podagra
MedGen UID:
450998
•Concept ID:
C0221168
•
Disease or Syndrome
Gout affecting the Metatarsophalangeal joint of big toe.
See: Feature record | Search on this feature
Hyperuricemia
MedGen UID:
149260
•Concept ID:
C0740394
•
Disease or Syndrome
An abnormally high level of uric acid in the blood.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Partial hypoxanthine-guanine phosphoribosyltransferase deficiency in Orphanet.

Professional guidelines

PubMed

Prenatal diagnosis of Lesch-Nyhan syndrome and some characteristics of hypoxanthine-guanine phosphoribosyltransferase and adenine phosphoribosyltransferase in human tissues and cultivated cells.
Shin-Buehring YS, Osang M, Wirtz A, Haas B, Rahm P, Schaub J
Pediatr Res 1980 Jun;14(6):825-9. doi: 10.1203/00006450-198006000-00010. PMID: 7402756

Recent clinical studies

Etiology

Partial hypoxanthine-guanine phosphoribosyltransferase deficiency presenting as acute renal failure.
Cherian S, Crompton CH
Pediatr Nephrol 2005 Dec;20(12):1811-3. Epub 2005 Oct 21 doi: 10.1007/s00467-005-2065-8. PMID: 16240158
Neurocognitive functioning in Lesch-Nyhan disease and partial hypoxanthine-guanine phosphoribosyltransferase deficiency.
Schretlen DJ, Harris JC, Park KS, Jinnah HA, del Pozo NO
J Int Neuropsychol Soc 2001 Nov;7(7):805-12. doi: 10.1017/s135561770177703x. PMID: 11771623

Diagnosis

Partial hypoxanthine-guanine phosphoribosyltransferase deficiency due to a newly recognized mutation presenting with renal failure in a one-year-old boy.
Ishida Y, Ishimaru A, Tauchi H, Yamaguchi A, Yokoyama M, Hiroi K, Wakamatsu N, Yamada Y
Eur J Pediatr 2008 Aug;167(8):957-9. Epub 2007 Sep 21 doi: 10.1007/s00431-007-0607-8. PMID: 17891542
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency presenting as acute renal failure.
Cherian S, Crompton CH
Pediatr Nephrol 2005 Dec;20(12):1811-3. Epub 2005 Oct 21 doi: 10.1007/s00467-005-2065-8. PMID: 16240158
Partial hypoxanthine-Guanine phosphoribosyltransferase deficiency as the unsuspected cause of renal disease spanning three generations: a cautionary tale.
Augoustides-Savvopoulou P, Papachristou F, Fairbanks LD, Dimitrakopoulos K, Marinaki AM, Simmonds HA
Pediatrics 2002 Jan;109(1):E17. doi: 10.1542/peds.109.1.e17. PMID: 11773585
Neurocognitive functioning in Lesch-Nyhan disease and partial hypoxanthine-guanine phosphoribosyltransferase deficiency.
Schretlen DJ, Harris JC, Park KS, Jinnah HA, del Pozo NO
J Int Neuropsychol Soc 2001 Nov;7(7):805-12. doi: 10.1017/s135561770177703x. PMID: 11771623
Clinical correlations in partial hypoxanthine guanine phosphoribosyltransferase deficiency.
Hersh JH, Page T, Hand ME, Seegmiller JE, Nyhan WL, Weisskopf B
Pediatr Neurol 1986 Sep-Oct;2(5):302-4. doi: 10.1016/0887-8994(86)90025-1. PMID: 3508703

Therapy

Partial hypoxanthine-guanine phosphoribosyltransferase deficiency due to a newly recognized mutation presenting with renal failure in a one-year-old boy.
Ishida Y, Ishimaru A, Tauchi H, Yamaguchi A, Yokoyama M, Hiroi K, Wakamatsu N, Yamada Y
Eur J Pediatr 2008 Aug;167(8):957-9. Epub 2007 Sep 21 doi: 10.1007/s00431-007-0607-8. PMID: 17891542
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency presenting as acute renal failure.
Cherian S, Crompton CH
Pediatr Nephrol 2005 Dec;20(12):1811-3. Epub 2005 Oct 21 doi: 10.1007/s00467-005-2065-8. PMID: 16240158

Prognosis

Partial hypoxanthine-guanine phosphoribosyltransferase deficiency presenting as acute renal failure.
Cherian S, Crompton CH
Pediatr Nephrol 2005 Dec;20(12):1811-3. Epub 2005 Oct 21 doi: 10.1007/s00467-005-2065-8. PMID: 16240158
Clinical correlations in partial hypoxanthine guanine phosphoribosyltransferase deficiency.
Hersh JH, Page T, Hand ME, Seegmiller JE, Nyhan WL, Weisskopf B
Pediatr Neurol 1986 Sep-Oct;2(5):302-4. doi: 10.1016/0887-8994(86)90025-1. PMID: 3508703

Clinical prediction guides

Neurocognitive functioning in Lesch-Nyhan disease and partial hypoxanthine-guanine phosphoribosyltransferase deficiency.
Schretlen DJ, Harris JC, Park KS, Jinnah HA, del Pozo NO
J Int Neuropsychol Soc 2001 Nov;7(7):805-12. doi: 10.1017/s135561770177703x. PMID: 11771623

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