Related MeSH Hierarchy (13)
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Amino Acid Transport Disorders, Inborn » Oculocerebrorenal Syndrome
Diseases [C] » Urogenital Diseases [C12] » Female Urogenital Diseases and Pregnancy Complications » Female Urogenital Diseases » Urologic Diseases » Kidney Diseases » Renal Tubular Transport, Inborn Errors » Oculocerebrorenal Syndrome
Diseases [C] » Urogenital Diseases [C12] » Male Urogenital Diseases » Urologic Diseases » Kidney Diseases » Renal Tubular Transport, Inborn Errors » Oculocerebrorenal Syndrome
Diseases [C] » Urogenital Diseases [C12] » Urologic Diseases » Kidney Diseases » Renal Tubular Transport, Inborn Errors » Oculocerebrorenal Syndrome
Diseases [C] » Nervous System Diseases [C10] » Central Nervous System Diseases » Brain Diseases » Brain Diseases, Metabolic » Brain Diseases, Metabolic, Inborn » Oculocerebrorenal Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Congenital Abnormalities » Abnormalities, Multiple » Oculocerebrorenal Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Genetic Diseases, X-Linked » Oculocerebrorenal Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Brain Diseases, Metabolic, Inborn » Oculocerebrorenal Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Oculocerebrorenal Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Renal Tubular Transport, Inborn Errors » Oculocerebrorenal Syndrome
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Brain Diseases, Metabolic » Brain Diseases, Metabolic, Inborn » Oculocerebrorenal Syndrome
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Amino Acid Transport Disorders, Inborn » Oculocerebrorenal Syndrome
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Brain Diseases, Metabolic, Inborn » Oculocerebrorenal Syndrome
Description
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) MeSH
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