KEGG DISEASE: Lowe syndrome

KEGG

DISEASE: Lowe syndrome

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 (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 disorder

Brite

Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Disorders of metabolite absorption or transport
    5C60  Disorders of amino acid absorption or transport
     H00692  Lowe syndrome

Pathway

Inositol phosphate metabolism

Phosphatidylinositol signaling system

Gene

OCRL [HSA:4952] [KO:K01099]

Comment

Mutations in OCRL1 gene also cause Dent disease [DS:H00694].

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Loi M

Title

Lowe syndrome.

Journal

Orphanet J Rare Dis 1:16 (2006)
DOI:10.1186/1750-1172-1-16

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)
DOI:10.1590/S0101-28002010000200011

Reference

PMID:9632163 (OCRL)

Authors

Kawano T, Indo Y, Nakazato H, Shimadzu M, Matsuda I

Title

Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes.

Journal

Am J Med Genet 77:348-55 (1998)

LinkDB

» Japanese version

DBGET integrated database retrieval system