KELLEY-SEEGMILLER SYNDROME

Question 1

What is  KELLEY-SEEGMILLER SYNDROME?

Accepted Answer

rare

X-linked recessive

mutation in the HPRT gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 300323

Question 3

Which enzymes are involved?

Accepted Answer

Hypoxanthine-guanine phosphoribosyltransferase

Disease	KELLEY-SEEGMILLER SYNDROME
Synonym	HPRT1 DEFICIENCY, PARTIAL
OMIM	300323 OMIM = Online Mendelian Inheritance of Men
Orphanet	79233
Protein (UniProt)	Hypoxanthine-guanine phosphoribosyltransferase
ExPASy	2.4.2.8
Gene locus	Xq26.2-q26.3
ICD	E79.8
Summary	rare X-linked recessive mutation in the HPRT gene
Laboratory findings	Uric acid inc (urine) Uric acid inc (serum)
Symptoms	gout onset, adolescent onset, childhood onset, infancy renal failure, acute/chronic urolithiasis, nephrolithiasis, kidney stones