Extractions: (advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Ophthalmology Metabolic Disorders Last Updated: June 7, 2005 Rate this Article Email to a Colleague Synonyms and related keywords: OCRS, Lowe syndrome AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: DM Alcorn, MD , Director of Pediatric Ophthalmology and Strabismus, Lucile Packard Children's Hospital; Associate Professor, Departments of Ophthalmology and Pediatrics, Stanford University School of Medicine DM Alcorn, MD, is a member of the following medical societies: American Academy of Ophthalmology , and American Association for Pediatric Ophthalmology and Strabismus Editor(s): Andrew Lawton, MD , Medical Director of Neuro-Ophthalmology Service, Section of Ophthalmology, Baptist Eye Center, Baptist Health Medical Center; Francisco Talavera, PharmD, PhD
EMedicine - Oculocerebrorenal Syndrome Article By DM Alcorn, MD oculocerebrorenal syndrome oculocerebrorenal syndrome (OCRS) is an X-linked recessive metabolic disorder described by Lowe and coworkers in 1952. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Penn State Faculty Research Expertise Database (FRED) Lowe oculocerebrorenal syndrome LoweBickel Syndrome. Lowe-Terrey-MacLachlan Syndrome Oculocerebrorenal Dystrophy http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Oculocerebrorenal Syndrome Lowe oculocerebrorenal syndrome is an Xlinked disorder caused by mutations inthe OCRL1 gene, which encodes a 105- kDa Golgi protein with http://bioresearch.ac.uk/browse/mesh/D009800.html
Extractions: low graphics Lowe syndrome mutation database The Lowe Syndrome Mutation Database is produced by Genetic Disease Research Branch within the US National Human Genome Research Institute (NHGRI). "Lowe oculocerebrorenal syndrome is an X-linked disorder caused by mutations in the OCRL1 gene, which encodes a 105- kDa Golgi protein with phosphatidylinositol (4,5) bisphosphate 5- phosphatase activity." Data and information provided include: Reported OCRL1 mutations causing Lowe Syndrome; Numbering of exons, nucleic acid sequence, and protein sequence used in this database; List of investigators; and References. Information on new mutations may be submitted online. Phosphoric Monoester Hydrolases Oculocerebrorenal Syndrome Molecular Sequence Data Databases, Genetic ... Database [Publication Type]
Oculocerebrorenal Syndrome giving the alternative clinical name of oculocerebrorenal syndrome. The Website of the Lowe Syndrome Trust provides more information about this rare http://omni.ac.uk/browse/mesh/D009800.html
Extractions: low graphics other: Acidosis, Renal Tubular UK Lowe syndrome trust Lowe syndrome is a genetic disorder, mainly to be found in boys, characterised by multiple mental and physical handicaps. The eyes the nervous system and the kidneys are affected, giving the alternative clinical name of Oculocerebrorenal Syndrome. The Web site of the Lowe Syndrome Trust provides more information about this rare disorder, its clinical manifestations, and the treatment and care of children who suffer from it. Information is given on the Trust's support for research, its fundraising and other activities. There are links to other useful sites and pages for parents of Lowe Syndomr children. Oculocerebrorenal Syndrome
Listing By Alphabetical Subject Heading: Embryology The eyes the nervous system and the kidneys are affected, giving the alternativeclinical name of oculocerebrorenal syndrome. http://omni.ac.uk/browse/subject-listing/QS604.html
Extractions: up American Society for the Surgery of the Hand : congenital abnormalities of the upper extremity This brief patient information leaflet on congenital abnormalities of the upper extremity is produced by the American Society for Surgery of the Hand (ASSH). It describes the causes of congenital abnormalities of the upper extremity and provides examples of congenital abnormalities of the hand and arm. Also discussed are the emotional feelings parents may experience if their newborn child is born with a congenital abnormality. Patient Education Handout [Publication Type] Infant, Newborn Hand Arm ... Assessment of screening strategies for Fragile X syndrome in the UK This review assesses the feasibility and acceptability of population screening strategies for Fragile X syndrome (FXS), an inherited form of learning disability that was defined in the late 1970s by cytogenetic detection of an associated fragile site on the X chromosome (Xq27.3). It concluded that programmes of systematic case- finding and cascade testing could achieve benefits for those women most at risk. Authored by Professor Marcus Pembrey et al, and published in March 2001, this review is made available on the Web by the National Coordinating Centre for Health Technology Assessment at the University of Southampton's Wessex Institute for Health Research and Development. The executive summary is available in HTML, and the full-text document is available in PDF, which requires Adobe Acrobat Reader. Review [Publication Type] Prenatal Diagnosis Mass Screening Fragile X Syndrome / diagnosis ... Birth Defects Foundation The Birth Defects Foundation (BDF) is a UK based charity that provides support for families, creates awareness and encourages prevention of birth defects, and funds vital medical research to improve child health. The Web site provides details of the foundation's work, information for prospective parents on ways to reduce risks of birth defects, and actions to take in checking for genetic risks. Access is provided to publications in PDF format requiring the Adobe Acrobat Reader. There is also information about current research and support services.
Fetal Oculocerebrorenal Syndrome Of Lowe Associated With Elevated Fetal oculocerebrorenal syndrome of Lowe associated with elevated maternal serum and amniotic fluid alphafetoprotein levels RC Miller http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Oculocerebrorenal Syndrome oculocerebrorenal syndrome other Acidosis, Renal Tubular. UK Lowe syndrome trust http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Kidney Resource Page oculocerebrorenal syndrome Presentations. Frequently asked questions foroculocerebrorenal syndrome add av folder (id av) http://links.nephron.com/diseases_categories/other_conditions/oculocerebrorenal_
Extractions: Home Links Physicians RNS and Renal Administrators ... Translate TEXT SEARCH STRUCTURED SEARCHES PubMed MeSH Nucleotide Journals PMC Books OMIN PopSet Taxonomy DNA Sequences Protein Sequences 3D Structures Complete Genomes Books CancerChromosomes Conserved Domains 3D Domains Gene GENSAT GEO Profiles GEO DataSets HomoloGene NCBI Web Site NLM Catalog OMIM PubChem BioAssay PubChem Compound PubChem Substance SNP UniGene UniSTS for: All Subjects Free Text obesity hypertension dialysis diabetes kidney kidney disease glomerulonephritis kidney failure vascular calcification All Journals N England J Med Clin Nephrol Curr Opin Nephrol Hypertens J Am Soc Nephrol Proc Eur Dial Transplant Assoc Semin Nephrol Kidney Int Kidney Int Suppl Am J Kidney Dis Nephrol Dial Transplant Other Citematch Search by Citation - Hubmed works with EndNote and newsreaders CR mg/dL
Arch Neurol Abstract Mitochondrial Defects In Lowe's Mitochondrial defects in Lowe's oculocerebrorenal syndrome. J. M. Gobernado, M. Lousa, A. Gimeno and M. Gonsalvez http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Kidney Resource Page Statins in nephrotic syndrome A new weapon against tissue injury. Familialoculocerebrorenal syndrome Pseudohypoaldosteronism Tuberculosis, http://links.nephron.com/
Extractions: Home Links Physicians RNS and Renal Administrators ... Translate TEXT SEARCH STRUCTURED SEARCHES PubMed MeSH Nucleotide Journals PMC Books OMIN PopSet Taxonomy DNA Sequences Protein Sequences 3D Structures Complete Genomes Books CancerChromosomes Conserved Domains 3D Domains Gene GENSAT GEO Profiles GEO DataSets HomoloGene NCBI Web Site NLM Catalog OMIM PubChem BioAssay PubChem Compound PubChem Substance SNP UniGene UniSTS for: All Subjects Free Text obesity hypertension dialysis diabetes kidney kidney disease glomerulonephritis kidney failure vascular calcification All Journals N England J Med Clin Nephrol Curr Opin Nephrol Hypertens J Am Soc Nephrol Proc Eur Dial Transplant Assoc Semin Nephrol Kidney Int Kidney Int Suppl Am J Kidney Dis Nephrol Dial Transplant Other Citematch Search by Citation - Hubmed works with EndNote and newsreaders CR mg/dL Syndromes and Reviews Acute Kidney Failure Albuminuria Chronic Kidney Disease Cystic Kidneys ... Transplantation Primary Glomerulonephritis IgA Nephropathy Membranous Nephropathy Membranoproliferative Glomerulonephritis Focal Sclerosing Glomerulonephritis ... Minimal Change Glomerulonephritis Secondary Nephritis Aids Nephropathy Amyloidosis Diabetic Nephropathy Hepatitis B and C ... Infectious Glomerulonephritis Interstitial Nephritis
Extractions: A sex-linked recessive disorder of amino acid transport which affects the EYE; NERVOUS SYSTEM; and KIDNEY. Clinical manifestations include CATARACT; GLAUCOMA; developmental delay (which eventually leads to profound cognitive deficits); myopathy; peripheral neuropathy; and hypotonia. There is an associated generalized aminoaciduria of the FANCONI SYNDROME type; renal tubular acidosis (ADIDOSIS, RENAL TUBULAR); and hypophosphatemic RICKETS. This condition has been associated with deficient activity of the enzyme phosphatidylinositol 4,5-bisphosphate-5-phosphatase. (Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8) Synonyms and Source Vocabularies:
Oculocerebrorenal Syndrome Complete online version of The Encyclopaedia of Medical Imaging including textand images from The Encyclopaedia of Medical Imaging s eight book volumes http://www.amershamhealth.com/medcyclopaedia/medical/Volume VII/OCULOCEREBRORENA
Extractions: financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com Oculocerebrorenal syndrome, (also called Lowe's syndrome), hypotonia at birth with developmental delay. Delayed physical development, cataract and glaucoma, and renal tubular dysfunction are the main features. There is also hypophosphataemic rickets. Radiologically, the features are those of osteoporosis and rickets. For a general description, see Lowes syndrome
Mumps Web Folders MH = oculocerebrorenal syndrome AQ = BL CF CI CL CO DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RA RH RI RT SU TH UR US VE VI http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Extractions: This article has been cited by other articles: Moe, O. W., Bonny, O. (2005). Genetic Hypercalciuria. J Am Soc Nephrol [Abstract] [Full Text] Laube, G F, Russell-Eggitt, I M, van't Hoff, W G (2004). Early proximal tubular dysfunction in Lowe's syndrome. Arch. Dis. Child. [Abstract] [Full Text] Tricot, L., Yahiaoui, Y., Teixeira, L., Benabdallah, L., Rothschild, E., Juquel, J.-P., Satre, V., Grunfeld, J.-P., Chauveau, D. (2003). End-stage renal failure in Lowe syndrome. Nephrol Dial Transplant [Full Text] Gahl, W. A., Brantly, M., Kaiser-Kupfer, M. I., Iwata, F., Hazelwood, S., Shotelersuk, V., Duffy, L. F., Kuehl, E. M., Troendle, J., Bernardini, I. (1998). Genetic Defects and Clinical Characteristics of Patients with a Form of Oculocutaneous Albinism (Hermansky-Pudlak Syndrome).
