Rare Zebra

Rare disease search prototype built on Orphanet data

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ORPHA:534

Oculocerebrorenal syndrome of Lowe

Also called Lowe disease, Lowe oculo-cerebro-renal dystrophy, Lowe oculo-cerebro-renal syndrome, Lowe oculocerebrorenal dystrophy, Lowe syndrome, OCRL

Body system
Inborn errors of metabolism
Inheritance pattern
X-linked recessive
Typical age of onset
Antenatal, Neonatal
Estimated prevalence
1-9 / 1 000 000 (Worldwide)
Rarity class
1-9 / 1 000 000

ORPHA:534 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.

Common signs

  • Renal insufficiency
  • Abnormal renal tubule morphology
  • Proteinuria
  • Cataract
  • Abnormal pupil morphology
  • Nystagmus