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Oculocerebrorenal syndrome of Lowe

Disease definition

Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.

ORPHA:534

  • Synonym(s):
    • Lowe disease
    • Lowe oculo-cerebro-renal syndrome
    • Lowe syndrome
    • OCR
    • OCRL
    • Oculo-cerebro-renal dystrophy
    • Oculo-cerebro-renal syndrome
    • Oculocerebrorenal dystrophy
    • Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Neonatal
  • ICD-10: E72.0
  • OMIM: 309000
  • UMLS: C0028860
  • MeSH: D009800
  • GARD: 3295
  • MedDRA: 10051707

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