Lowe Oculocerebrorenal Syndrome

Alternative Names

  • OCRL1
  • Lowe Syndrome
  • Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency

Associated Genes

OCRL Gene
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

309000

Mode of Inheritance

X-linked recessive

Gene Map Locus

Xq26.1

Description

Lowe syndrome is a multisystem disorder characterized by anomalies affecting the eye, the nervous system and the kidney. This disease is caused by markedly reduced activity of the enzyme inositol polyphosphate 5-phosphatase OCRL-1, which is localized to the Golgi complex and encoded by the OCRL gene.

 

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
309000.1.1LebanonMaleYesNo Intellectual disability; Developmental ...NM_000276.3:c.1672G>THemizygousX-linked, RecessiveSatre et al. 1999 Similarly affected b...
309000.2MoroccoMaleNo Psychomotor retardation; Cataract; Gla...NM_000276.3:c.827T>CHemizygousX-linked, RecessiveChabaâ et al. 2006 De novo mutation
309000.3United Arab EmiratesMaleYesNo Developmental cataract; Abnormality of e...NM_000276.3:c.1498C>GHemizygousX-linkedSaleh et al. 2021 Similarly affected b...
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