HYPOURICEMIA, RENAL, 1 (RHUC1)

Question 1

What is  HYPOURICEMIA, RENAL, 1 (RHUC1)?

Accepted Answer

rare

autosomal recessive

mutation in the SLC22A12 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 220150

Question 3

Which enzymes are involved?

Accepted Answer

Solute carrier family 22 member 12

Disease	HYPOURICEMIA, RENAL, 1 (RHUC1)
Synonym	DALMATIAN HYPOURICEMIA
OMIM	220150 OMIM = Online Mendelian Inheritance of Men
Orphanet	94088
Protein (UniProt)	Solute carrier family 22 member 12
Gene locus	11q13.1
ICD
Summary	rare autosomal recessive mutation in the SLC22A12 gene
Laboratory findings	Uric acid dec (serum)
Symptoms	no clinical symptoms (probably) onset, adolescent renal failure, acute/chronic urolithiasis, nephrolithiasis, kidney stones