HYPOURICEMIA, RENAL, 2 (RHUC2)

Question 1

What is  HYPOURICEMIA, RENAL, 2 (RHUC2)?

Accepted Answer

rare

autosomal dominant

autosomal recessive

mutation in the SLC2A9 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 612076

Question 3

Which enzymes are involved?

Accepted Answer

Solute carrier family 2, facilitated glucose transporter member 9

Disease	HYPOURICEMIA, RENAL, 2 (RHUC2)
OMIM	612076 OMIM = Online Mendelian Inheritance of Men
Orphanet	91088
Protein (UniProt)	Solute carrier family 2, facilitated glucose transporter member 9
Gene locus	4p16.1
ICD
Summary	rare autosomal dominant autosomal recessive mutation in the SLC2A9 gene
Laboratory findings	Uric acid inc (urine) Uric acid dec (serum)
Symptoms	no clinical symptoms (probably) onset, adolescent renal failure, acute/chronic urolithiasis, nephrolithiasis, kidney stones