Nephrology · Nephrology / Metabolic kidney disease
Lesch–Nyhan syndrome
also: HPRT deficiency; hyperuricemia with self-injury
X-linked purine metabolism disorder with hyperuricemia, kidney stones and self-injury.
- Specialty
- Nephrology
- Subspecialty
- Nephrology / Metabolic kidney disease
- Sex & age distribution
- Male: affected, nearly all; Female: carriers mild; Children: yes, infancy
- Gene(s) involved
- HPRT1
- Alternative names & eponyms
- HPRT deficiency; hyperuricemia with self-injury
Etiology & mechanism
HPRT1 deficiency.
Gene(s) involved (1)
Symptoms & signs (7)
In plain terms, someone with Lesch–Nyhan syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Kelley–Seegmiller syndrome
gout, kidney stones
1 shared
Allan–Herndon–Dudley syndrome
intellectual disability
1 shared
Aniridia-Wilms tumor-genitourinary anomalies-retardation syndrome
intellectual disability
1 shared
Apert syndrome
intellectual disability
1 shared
Börjeson–Forssman–Lehmann syndrome
intellectual disability
1 shared
Borjeson–Forssman–Lehmann syndrome
intellectual disability
1 shared
Cardiofaciocutaneous syndrome
intellectual disability
1 shared
Coffin–Lowry syndrome
intellectual disability
1 shared
Coffin–Siris syndrome
intellectual disability
1 shared
Cohen syndrome
intellectual disability
Shares genes with
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