Oculocerebrorenal syndrome

Oculocerebrorenal syndrome
Other namesLowe syndrome
Infant with oculocerebrorenal syndrome
SpecialtyObstetrics and gynaecology, urology, neurology, medical genetics, endocrinology Edit this on Wikidata
SymptomsCataracts[1]
CausesMutations in OCRL gene[1]
Diagnostic methodMRI, urinalysis[2]
TreatmentPhysical therapy, clomipramine[3]

Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder characterized by congenital cataracts, hypotonia, intellectual disability, proximal tubular acidosis, aminoaciduria and low-molecular-weight proteinuria. Lowe syndrome can be considered a cause of Fanconi syndrome (bicarbonaturia, renal tubular acidosis, potassium loss and sodium loss[4]).[5][6]

  1. ^ a b Cite error: The named reference emed was invoked but never defined (see the help page).
  2. ^ Cite error: The named reference lowe was invoked but never defined (see the help page).
  3. ^ Cite error: The named reference orp was invoked but never defined (see the help page).
  4. ^ "Fanconi syndrome: MedlinePlus Medical Encyclopedia". medlineplus.gov. Retrieved 2016-12-21.
  5. ^ Lewis, Richard Alan; Nussbaum, Robert L.; Brewer, Eileen D. (1993-01-01). "Lowe Syndrome". In Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora J.H.; Bird, Thomas D.; Fong, Chin-To; Mefford, Heather C. (eds.). GeneReviews. Seattle (WA): University of Washington, Seattle. PMID 20301653.update 2012
  6. ^ "OMIM Entry - # 309000 - LOWE OCULOCEREBRORENAL SYNDROME; OCRL". omim.org. Retrieved 21 December 2016.