Nephrology · Nephrology / Metabolic kidney disease
Kelley–Seegmiller syndrome
also: Partial HPRT deficiency
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency with gout and kidney stones.
- Specialty
- Nephrology
- Subspecialty
- Nephrology / Metabolic kidney disease
- Sex & age distribution
- Male: affected; Female: carriers; Children: yes
- Gene(s) involved
- HPRT1
- Alternative names & eponyms
- Partial HPRT deficiency
Etiology & mechanism
Residual HPRT activity.
Gene(s) involved (1)
Symptoms & signs (4)
In plain terms, someone with Kelley–Seegmiller syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
Shares genes with
Loading…
Loading…