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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Oculocerebrorenal Syndrome
... > Urogenital Diseases > Female Urogenital Diseases and Pregnancy Complications > Female Urogenital Diseases > Urologic Diseases > Kidney Diseases > Renal Tubular Transport, Inborn Errors > Oculocerebrorenal Syndrome
... > Urogenital Diseases > Male Urogenital Diseases > Urologic Diseases > Kidney Diseases > Renal Tubular Transport, Inborn Errors > Oculocerebrorenal Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Renal Tubular Transport, Inborn Errors > Oculocerebrorenal Syndrome
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Renal Tubular Transport, Inborn Errors > Oculocerebrorenal Syndrome
Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Oculocerebrorenal Syndrome
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Oculocerebrorenal Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Oculocerebrorenal Syndrome
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Oculocerebrorenal Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Genetic Diseases, X-Linked > Oculocerebrorenal Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Amino Acid Transport Disorders, Inborn > Oculocerebrorenal Syndrome
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Amino Acid Transport Disorders, Inborn > Oculocerebrorenal Syndrome

Preferred term

Oculocerebrorenal Syndrome  

Type

  • mesh:Descriptor

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)

Broader concept

Related concepts

Entry terms

  • Cerebro-Oculo-Renal Syndrome
  • Cerebrooculorenal Syndrome
  • Lowe-Bickel Syndrome
  • Lowe Disease
  • Lowe Oculocerebrorenal Syndrome
  • Lowe Syndrome
  • Lowe-Terrey-MacLachlan Syndrome
  • Oculocerebrorenal Dystrophy
  • Oculocerebrorenal Syndrome of Lowe
  • Renal-Oculocerebrodystrophy

Allowable Qualifier(s)

In other languages

  • Syndrome de Lowe

    French

  • Syndrome oculo-cérébro-rénal
  • Syndrome oculo-cérébro-rénal de Lowe
  • Syndrome oculocérébrorénal

URI

http://data.loterre.fr/ark:/67375/JVR-M2R2GN6Z-S

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