Oculocerebrorenal Syndrome

Overview

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Is a:

Disease or Syndrome

Definition:

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)

Synonyms:

Cerebro Oculo Renal Syndrome
Cerebro-Oculo-Renal Syndrome
Cerebro-Oculo-Renal Syndromes
Cerebrooculorenal Syndrome
Cerebrooculorenal Syndromes
Dystrophies, Oculocerebrorenal
Dystrophy, Oculocerebrorenal
Lowe Bickel Syndrome
Lowe Disease
Lowe Oculocerebrorenal Syndrome
Lowe Syndrome
Lowe Terrey MacLachlan Syndrome
Lowe-Bickel Syndrome
Lowe-Terrey-MacLachlan Syndrome
Oculocerebrorenal Dystrophies
Oculocerebrorenal Dystrophy
Renal Oculocerebrodystrophy
Renal-Oculocerebrodystrophies
Renal-Oculocerebrodystrophy

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