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Lesch-Nyhan syndrome
2 OMIM references -
1 associated gene
11 connected diseases
11 signs/symptoms
Disease Type of connection
Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Autosomal dominant hypohidrotic ectodermal dysplasia
Chuvash erythrocytosis
Diaphyseal medullary stenosis - bone malignancy
Fanconi anemia
Parkinsonian-pyramidal syndrome
Phosphoserine aminotransferase deficiency
Pseudohypoaldosteronism type 2E
Von Hippel-Lindau disease
Young adult-onset Parkinsonism
Adenine phosphoribosyltransferase deficiency
Synonym(s):
- HPRT complete deficiency
- HPRT deficiency grade IV
- Hypoxanthine guanine phosphoribosyltransferase complete deficiency
- Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease
- Rare neurologic disease
- Rare renal disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive
External references:
2 OMIM references -
1 MeSH reference: D007926
Gene symbol UniProt reference OMIM reference
HPRT1 P00492308000
Very frequent
- Arthritis / synovitis / synovial proliferation
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypertonia / spasticity / rigidity / stiffness
- Hyperuricemia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Movement disorder
- Psychic / behavioural troubles
- X-linked recessive inheritance

Frequent
- Anaemia
- Hematuria / microhematuria
- Renal failure