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Disease Oculocerebrorenal Syndrome

Name Oculocerebrorenal Syndrome
Synonyms Cerebrooculorenal Syndrome | Cerebro Oculo Renal Syndrome | Cerebro-Oculo-Renal Syndrome | Deficiency, Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase | Dystrophy, Oculocerebrorenal | Lowe Bickel Syndrome | Lowe-Bickel Syndrome | Lowe Disease | Lowe Oculocerebrorenal Syndrome | Lowe Syndrome | Lowe Terrey MacLachlan Syndrome | Lowe-Terrey-MacLachlan Syndrome | OCRL | OCRL1 | Oculocerebrorenal Dystrophy | Oculocerebrorenal Syndrome of Lowe | Phosphatidylinositol 4,5 Bisphosphate 5 Phosphatase Deficiency | Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency | Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency | Renal Oculocerebrodystrophy | Renal-Oculocerebrodystrophy
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)
Categories Congenital abnormality | Genetic disease (inborn) | Metabolic disease | Nervous system disease | Urogenital disease (female) | Urogenital disease (male)
MeSH® ID D009800
OMIM® ID 309000
External Links

Top ↑ Ancestors

1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Oculocerebrorenal Syndrome Has associated chemicals Has associated genes
2. DiseasesMale Urogenital Diseases Has associated chemicals Has associated genes Has associated exposure references Urologic Diseases Has associated chemicals Has associated genes Has associated exposure references Kidney Diseases Has associated chemicals Has associated genes Has associated exposure references Renal Tubular Transport, Inborn Errors Has associated chemicals Has associated genes Oculocerebrorenal Syndrome Has associated chemicals Has associated genes
3. DiseasesFemale Urogenital Diseases and Pregnancy Complications Has associated chemicals Has associated genes Has associated exposure references Female Urogenital Diseases Has associated chemicals Has associated genes Has associated exposure references Urologic Diseases Has associated chemicals Has associated genes Has associated exposure references Kidney Diseases Has associated chemicals Has associated genes Has associated exposure references Renal Tubular Transport, Inborn Errors Has associated chemicals Has associated genes Oculocerebrorenal Syndrome Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Abnormalities, Multiple Has associated chemicals Has associated genes Oculocerebrorenal Syndrome Has associated chemicals Has associated genes
5. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, X-Linked Has associated chemicals Has associated genes Oculocerebrorenal Syndrome Has associated chemicals Has associated genes
6. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Amino Acid Transport Disorders, Inborn Has associated chemicals Has associated genes Oculocerebrorenal Syndrome Has associated chemicals Has associated genes
7. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Oculocerebrorenal Syndrome Has associated chemicals Has associated genes
8. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Renal Tubular Transport, Inborn Errors Has associated chemicals Has associated genes Oculocerebrorenal Syndrome Has associated chemicals Has associated genes
9. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Oculocerebrorenal Syndrome Has associated chemicals Has associated genes
10. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Oculocerebrorenal Syndrome Has associated chemicals Has associated genes
11. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Amino Acid Transport Disorders, Inborn Has associated chemicals Has associated genes Oculocerebrorenal Syndrome Has associated chemicals Has associated genes
12. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Oculocerebrorenal Syndrome Has associated chemicals Has associated genes
13. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Renal Tubular Transport, Inborn Errors Has associated chemicals Has associated genes Oculocerebrorenal Syndrome Has associated chemicals Has associated genes

Top ↑ Descendants

Oculocerebrorenal Syndrome Has associated chemicals Has associated genes
  Meier Blumberg Imahorn syndrome