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Hypoxanthine guanine phosphoribosyltransferase partial deficiency
1 OMIM reference -
1 associated gene
11 connected diseases
No signs/symptoms info
Disease Type of connection
Lesch-Nyhan syndrome
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 deficiency, grade I
- HPRT partial deficiency
- HPRT-related gout
- HPRT-related hyperuricemia
- HPRT1 partial deficiency
- Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency
- Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I
- Kelley-Seegmiller syndrome
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: unknown
Average age onset: variable
Average age of death: normal
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
HPRT1 P00492308000
No signs/symptoms info available.