 |
|
Illness finder is a diagnostic medicine tool for educational purpose that looks up your patients' health conditions or symptoms and diagnosis and find diseases or illnesses based on chosen gender, age, risk factors, illness, signs, symptoms and prevalence. Illnessfinder is inspired by Evidence based medicine (EMB) and healthcare that aims to apply the best (most reliable) knowledge that is available at decision time. Illnessfinder aims to free up time for the therapeutic dialogue and ensure quality at the evidence based practice, uniting proven medical findings and clinical evidence with systematised data technology.
| Enter a medical term |
| Oculocerebrorenal Syndrome | Legal notice |
Other terms
Cerebrooculorenal Syndrome,Cerebrooculorenal Syndromes,Lowe Disease,Renal-Oculocerebrodystrophy,Renal Oculocerebrodystrophy,Renal-Oculocerebrodystrophies,Lowe Syndrome,Lowe-Bickel Syndrome,Lowe Bickel Syndrome,Lowe-Terrey-MacLachlan Syndrome,Lowe Terrey MacLachlan Syndrome,Oculocerebrorenal Dystrophy,Dystrophies, Oculocerebrorenal,Dystrophy, Oculocerebrorenal,Oculocerebrorenal Dystrophies,Cerebro-Oculo-Renal Syndrome,Cerebro Oculo Renal Syndrome,Cerebro-Oculo-Renal Syndromes,Lowe Oculocerebrorenal Syndrome,Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency,Phosphatidylinositol 4,5 Bisphosphate 5 Phosphatase Deficiency
Description
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)
Pervious tree
Next tree
Other locations in tree
- Brain Diseases, Metabolic, Inborn
- Renal Tubular Transport, Inborn Errors
- Renal Tubular Transport, Inborn Errors
- Abnormalities, Multiple
- Genetic Diseases, X-Linked
- Amino Acid Transport Disorders, Inborn
- Renal Tubular Transport, Inborn Errors
- Brain Diseases, Metabolic, Inborn
- Amino Acid Transport Disorders, Inborn
- Brain Diseases, Metabolic, Inborn
- Renal Tubular Transport, Inborn Errors
Legal notice
The U.S. National Library of Medicine is the creator, maintainer, and provider of the data above.
The version of the data is 2010 MeSH. Last reviewed April 26, 2010. No modification has been made in the content of the file.
Neither the United States Government, nor any of its agencies, contractors, subcontractors or employees makes any warranties, expressed or implied, with respect to data contained in the database, and, furthermore, assumes no legal liability for any party's use, or the results of such use, of any part of the database.
You will not assert any proprietary rights to any portion of the database, or represent the database or any part thereof to anyone as other than a United States Government database.
The MeSH data carry an international copyright outside the United States, its Territories or Possessions. These terms and conditions are in effect as long as the user retains any of the MeSH data obtained from this site.