U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Mild phosphoribosylpyrophosphate synthetase superactivity

MedGen UID:
1843112
Concept ID:
C5680016
Disease or Syndrome
Synonyms: mild phosphoribosylpyrophosphate synthetase superactivity; Mild PRPP synthetase superactivity; mild PRPP synthetase superactivity; Mild PRPS1 superactivity; mild PRPS1 superactivity
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Monarch Initiative: MONDO:0018463
Orphanet: ORPHA411536

Definition

A mild form of phosphoribosylpyrophosphate (PRPP) synthetase superactivity, an X-linked disorder of purine metabolism, characterized by adolescent or early adult-onset hyperuricemia and hyperuricosuria, leading to urolithiasis and gout. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMild phosphoribosylpyrophosphate synthetase superactivity

Recent clinical studies

Diagnosis

Zikánová M, Wahezi D, Hay A, Stiburková B, Pitts C 3rd, Mušálková D, Škopová V, Barešová V, Soucková O, Hodanová K, Živná M, Stránecký V, Hartmannová H, Hnízda A, Bleyer AJ, Kmoch S
Rheumatology (Oxford) 2018 Jul 1;57(7):1180-1185. doi: 10.1093/rheumatology/key041. PMID: 30423175Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...