DENT DISEASE 2

Disease	DENT DISEASE 2
Synonym	OCRL1
OMIM	300555 OMIM = Online Mendelian Inheritance of Men
Orphanet	93623
Protein (UniProt)	Inositol polyphosphate 5-phosphatase OCRL-1
Gene locus	Xq26.1
ICD	N25.8
Summary	rare X-linked recessive mutation in the OCRL gene
Laboratory findings	Calcium inc (urine) Creatine kinase inc (serum) Lactate dehydrogenase (LDH) inc (serum) Protein inc (urine)
Symptoms	aminoaciduria cognitive impairment developmental delay Fanconi syndrome nephrocalcinosis nephrotic syndrome onset, childhood proteinuria renal failure, acute/chronic short stature umbilical hernia