Orphanet: Oculocerebrorenal syndrome of Lowe

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Oculocerebrorenal syndrome of Lowe

Disease definition

A rare multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, seizures, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.


Classification level: Disorder
  • Synonym(s):
    • Lowe disease
    • Lowe oculo-cerebro-renal dystrophy
    • Lowe oculo-cerebro-renal syndrome
    • Lowe oculocerebrorenal dystrophy
    • Lowe syndrome
    • OCRL
    • 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

Detailed information


The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.