What does oculocerebrorenal syndrome mean?

Definitions for oculocerebrorenal syndrome

Here are all the possible meanings and translations of the word oculocerebrorenal syndrome.


  1. Oculocerebrorenal syndrome

    Oculocerebrorenal syndrome is a rare X-linked recessive disorder characterized by congenital cataracts, hypotonia and areflexia, mental retardation, proximal tubular acidosis, aminoaciduria, phosphaturia, and low-molecular-weight proteinuria. Glaucoma is present in about 50% of cases. Lowe syndrome can be considered a cause of Fanconi syndrome.

U.S. National Library of Medicine

  1. Oculocerebrorenal Syndrome

    A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8)


  1. Chaldean Numerology

    The numerical value of oculocerebrorenal syndrome in Chaldean Numerology is: 9

  2. Pythagorean Numerology

    The numerical value of oculocerebrorenal syndrome in Pythagorean Numerology is: 7

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  1. oculocerebrorenal syndrome


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