Phosphoribosylpyrophosphate synthetase superactivity

Preferred Label : Phosphoribosylpyrophosphate synthetase superactivity;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Prps1 superactivity;

Included titles and symbols : Gout, prps-related;

Description : Phosphoribosylpyrophosphate synthetase I superactivity is an X-linked inborn error of metabolism in which increased enzyme activity is associated with hyperuricemia and gout. Some affected individuals have neurodevelopmental abnormalities, particularly sensorineural deafness (Becker et al., 1988; Roessler et al., 1993). Although different kinetic defects affecting the PRPS1 enzyme have been identified in this disorder, the common pathway involves increased synthesis of phosphoribosylpyrophosphate (PRPP), which leads to increased uric acid and purine production (Becker, 2001).;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the phosphoribosylpyrophosphate synthetase I gene (PRPS1, 311850.0001);

Laboratory abnormalities : Hyperuricemia; Hyperuricosuria; Increased activity of the PRPP synthetase 1 enzyme;

Prefixed ID : #300661;

Details

Origin ID

300661;

UMLS CUI

C1970827;

Currated CISMeF NLP mapping
- Phosphoribosyl pyrophosphate synthase superactivity [ICD-11 More detail]
- Phosphoribosylpyrophosphate synthetase superactivity [ORDO Disease]
- Phosphoribosylpyrophosphate synthetase superactivity (disorder) [SNOMED CT concept]
- Ribose-phosphate pyrophosphokinase overactivity (disorder) [SNOMED CT concept]
- phosphoribosylpyrophosphate synthetase superactivity [DO Concept]
- phosphoribosylpyrophosphate synthetase superactivity [MeSH concept]
- phosphoribosylpyrophosphate synthetase superactivity [MeSH Supplementary Concept]
DO Cross reference
- phosphoribosylpyrophosphate synthetase superactivity [DO Concept]
Genes related to phenotype
- Phosphoribosylpyrophosphate synthetase I [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Deafness [HPO term]
- Generalized hypotonia [HPO term]
- Gout [HPO term]
- Hyperuricemia [HPO term]
- Hyperuricosuria [HPO term]
- Hypotonia [HPO term]
- Increased phosphoribosylpyrophosphate synthetase level [HPO term]
- Intellectual disability [HPO term]
- Motor delay [HPO term]
- Renal insufficiency [HPO term]
- Sensorineural hearing impairment [HPO term]
- Uric acid nephrolithiasis [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Mild phosphoribosylpyrophosphate synthetase superactivity [ORDO Disease]
- Phosphoribosylpyrophosphate synthetase superactivity [ORDO Disease]
- Severe phosphoribosylpyrophosphate synthetase superactivity [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Phosphoribosylpyrophosphate synthetase superactivity [ORDO Disease]
- Phosphoribosylpyrophosphate synthetase superactivity (disorder) [SNOMED CT concept]
- phosphoribosylpyrophosphate synthetase superactivity [MeSH Supplementary Concept]
- phosphoribosylpyrophosphate synthetase superactivity [MeSH concept]
- phosphoribosylpyrophosphate synthetase superactivity [DO Concept]

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