| H00692 | |
| H number | H00692 |
| 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 |
| Network | - |
| Gene | OCRL [HSA:4952] [KO:K01099] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | Mutations in OCRL1 gene also cause Dent disease [DS:H00694]. |
| Other DBs | ICD-11: 5C60.0 ICD-10: E72.0 MeSH: D009800 OMIM: 309000 |
| Reference | PMID:16722554 AUTHORS Loi M TITLE Lowe syndrome. JOURNAL Orphanet J Rare Dis 1:16 (2006) DOI:10.1186/1750-1172-1-16 PMID:21103682 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 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) |