ZFIN Human Disease: phosphoribosylpyrophosphate synthetase superactivity

OBO ID: DOID:0111260

Term Name:	phosphoribosylpyrophosphate synthetase superactivity		Search Ontology:
Synonyms:	PRPP synthetase superactivity PRPS1 superactivity
Definition:	An inherited metabolic disorder characterized by increased synthesis of phosphoribosylpyrophosphate resulting in increased production of uric acid and purine that has_material_basis_in X-linked recessive inheritance of mutations in PRPS1 on Xq22.3 that result in increased activity of the gene. The mild form of the disease has late-juvenile or early adult onset while the more severe form has infantile or early-childhood onset. (2)
References:	MESH:C567064 OMIM:300661 ORDO:3222 SNOMEDCT_US_2023_03_01:723454008 UMLS_CUI:C1970827
Ontology:	Human Disease ( DOID:0111260 )

Relationships

is a type of:	inherited metabolic disorder X-linked recessive disease inherited metabolic disorder X-linked recessive disease Show first 5 Terms

OTHER phosphoribosylpyrophosphate synthetase superactivity PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PRPS1	prps1b prps1a	Phosphoribosylpyrophosphate synthetase superactivity	300661
		Gout, PRPS-related	300661

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None