KEGG   DISEASE: H00692Help
Entry
H00692                      Disease                                

Name
Lowe syndrome;
Oculocerebrorenal Dystrophy (OCRL)
Description
Lowe Syndrome, or Oculocerebrorenal Dystrophy (OCRL) is a multisystem disorder characterised by anomalies affecting the eye, the nervous system and the kidney. This is a rare X-linked disorder caused by mutations in the OCRL1 gene which encodes the phosphatidylinositol enzyme (4, 5) biphosphate 5-phosphatase present in the Golgi complex. The symptoms of Lowe syndrome include congenital cataracts and glaucoma, delay in neuropsychomotor development, cognitive deficits, and renal tubular abnormalities.
Category
Inherited metabolic disease; Nervous system disease
BRITE hierarchy
Pathway
Inositol phosphate metabolism
Phosphatidylinositol signaling system
Gene
OCRL1 [HSA:4952] [KO:K01099]
Comment
Mutations in OCRL1 gene also cause Dent disease [DS:H00694].
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Loi M
  Title
Lowe syndrome.
  Journal
Orphanet J Rare Dis 1:16 (2006)
Reference
  Authors
Maia ML, do Val ML, Genzani CP, Fernandes FA, de Andrade MC, Carvalhaes JT
  Title
Lowe syndrome: report of five cases.
  Journal
J Bras Nefrol 32:216-22 (2010)

» Japanese version

DBGET integrated database retrieval system