Extractions: (advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Patient Education Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Ophthalmology Metabolic Disorders Last Updated: March 30, 2001 Rate this Article Email to a Colleague Synonyms and related keywords: 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; Donald S Fong, MD, MPH
Lowe Syndrome Association Nussbaum RL (1992) The Lowe's oculocerebrorenal syndrome gene encodes a protein highly Nussbaum RL (1994) Lowe syndrome (The oculocerebrorenal syndrome of Lowe). Chapter 123 http://www.lowesyndrome.org/lwls/lwls-references.html
Extractions: Home Page Publications Living with Lowe Syndrome Medical and Scientific References LSA Information About the LSA News Donations Membership ... LSA-Talk Lowe Syndrome What is Lowe Syndrome? FAQ Diagnosis Testing Labs ... Living with LS Booklet Conferences 2004 Plans Past Conferences Research Research Fund Current RFP Grants International French LSA UK Trust Australia Links Living with Lowe Syndrome Table Of Contents Foreword I. Frequently Asked Questions II. Background III. Medical Features IV. Genetics V. Research VI. Development and Education VII. Parents and Families: Living with LS VIII. The Lowe Syndrome Association IX. Glossary X.Medical and Scientific References X. Medical and Scientific References Following is a list of several significant papers published in recent years:
Lowe's Syndrome Information Diseases Database Lowe's syndrome LoweTerry-MacLachlan syndrome Oculocerebral syndrome oculocerebrorenal syndrome Lowe-Bickel syndrome, Disease Database Information 5 synonyms or equivalents were found. Lowe's syndrome. aka/or Terry-MacLachlan syndrome. aka/or. Oculocerebral syndrome. aka/or. oculocerebrorenal syndrome. aka/or. Lowe-Bickel syndrome http://www.diseasesdatabase.com/ddb29146.htm
Extractions: (advertisement) Synonyms, Key Words, and Related Terms: Lowe's syndrome, oculocerebrorenal syndrome of Lowe, OCRL, renal Fanconi syndrome, congenital cataracts, neonatal or infantile hypotonia, mental retardation, mental impairment, renal tubular dysfunction, Lowe-Terrey-MacLachlan syndrome Background: In 1952, Lowe and colleagues described an infant with congenital cataracts and mental retardation. When more patients were described, the phenotype was expanded to include the renal Fanconi syndrome, and the X-linked inheritance pattern was noted. The diagnostic triad of the oculocerebrorenal syndrome of Lowe (OCRL) includes congenital cataracts, neonatal or infantile hypotonia with subsequent mental impairment, and renal tubular dysfunction. Pathophysiology: OCRL is caused by an inherited mutation in the gene . The OCRL1 protein is a phosphatidylinositol 4,5-bisphosphate (PtdIns[4,5]P2) 5 phosphatase that is localized in the Golgi apparatus and appears to play a role in cellular trafficking. Deficiency of this enzyme may impair proper intracellular protein sorting, especially within polarized cells such as the renal epithelium and the optic lens. This may explain the epithelial cell phenotype, ie, the congenital cataracts and renal tubular dysfunction observed in OCRL. Mortality/Morbidity: Slowly progressive renal failure is the major cause of mortality in patients with OCRL. Fanconi syndrome of the renal tubule predisposes these patients to dehydration and metabolic imbalance, which can be severe. Patients with OCRL also have a tendency to develop pneumonia due to hypotonia and poor cough reflex. Other causes of death include infection and status epilepticus, and sudden unexplained death can occur. Death usually occurs in the second or third decade of life.
Oculocerebrorenal Syndrome Other characters, oculocerebrorenal syndrome,. Print this article, (also called Lowe s syndrome), hypotonia at birth with developmental delay. http://www.amershamhealth.com/medcyclopaedia/medical/Volume VII/OCULOCEREBRORENA
Extractions: Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters 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
Lowe's Syndrome Lowe s syndrome,. Print this article, (Charles Upton Lowe, 20th century, American paediatrician), (also called oculocerebrorenal syndrome), a rare Xlinked http://www.amershamhealth.com/medcyclopaedia/medical/Volume VI 1/LOWES SYNDROME.
Extractions: Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Lowe's syndrome, (Charles Upton Lowe, 20th century, American paediatrician), (also called oculocerebrorenal syndrome), a rare X-linked hereditary disease probably due to abnormal inositol phosphate metabolism. Renal tubular dysfunction with metabolic acidosis develops, associated with delayed psychomotor development, noninflammatory arthropathy with pain and cataracts. MR shows white matter abnormalities in the periventricular area and centrum semiovale. Mild ventriculomegaly may be present and sometimes minor migration anomalies with polymicrogyria.
DOE Document - The Oculocerebrorenal Syndrome Gene Product Is A The oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder affecting the lens, kidney, and CNS. The predicted amino acid sequence of the OCRL gene, OCRL1, was used to develop http://rdre1.inktomi.com/click?u=http://www.osti.gov/energycitations/product.bib
Extractions: low graphics other: Down Syndrome Fragile X Syndrome Homocystinuria 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]
Kidney Resource Page Citematch abstract by journal, date or author. oculocerebrorenal syndrome. oculocerebrorenal syndrome News. Popular Weblinks to oculocerebrorenal syndrome. http://links.nephron.com/diseases_categories/other_conditions/oculocerebrorenal_
Extractions: All Subjects Free Text obesity hypertension dialysis diabetes kidney kidney disease glomerulonephritis kidney failure 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 - abstract by journal, date or author Oculocerebrorenal Syndrome Oculocerebrorenal Syndrome Navigation HOME NEWS WEBLINKS JOURNALS ... BOARDS Oculocerebrorenal Syndrome News Newsdesk search tools will use either Oculocerebrorenal Syndrome as a subject or override the titles and ids Popular Weblinks to Oculocerebrorenal Syndrome We will develop a CMF to enter URLs and titles that will be specific to Oculocerebrorenal Syndrome Oculocerebrorenal Syndrome AV Presentations We can make Powerpoint presentations for Oculocerebrorenal Syndrome and have them autoload from MS PPT into a ZOPE folder object as compressed jpg files.
Lowe Oculocerebrorenal Syndrome Lowe oculocerebrorenal syndrome. This disease is described in an article in GeneReviews. Copyright 2002 SimulConsultInc. http://www.simulconsult.com/resources/c0028860.html
Extractions: All Subjects Free Text obesity hypertension dialysis diabetes kidney kidney disease glomerulonephritis kidney failure 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 - abstract by journal, date or author links.nephron.com HOME NEWS PRESENTATIONS LINKS ... MSH ISSUES IN NEPHROLOGY Chronic Kidney Disease Anemia of Kidney Disease Blood Pressure: Management and Consequences Vascular Calcification ... End Stage Renal Disease DISEASES Syndromes and Reviews
Extractions: WWW Medical.WebEnds.com Cerebrooculorenal Syndrome; Lowe Syndrome; Cerebro-Oculo-Renal Syndrome; Lowe Disease; Lowe Oculocerebrorenal Syndrome; Lowe-Bickel Syndrome; Lowe-Terrey-MacLachlan Syndrome; Oculocerebrorenal Dystrophy; Renal-Oculocerebrodystrophy 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)
Congenital, Hereditary, And Neonatal Diseases And Abnormalities Aicardi Syndrome (not on MeSH oculocerebrorenal syndrome oculocerebrorenal syndrome - oculocerebrorenal syndrome - oculocerebrorenal syndrome - oculocerebrorenal syndrome http://www.mic.ki.se/Diseases/c16.html
Extractions: Diseases and Disorders Links pertaining to Congenital, Hereditary, and Neonatal Diseases and Abnormalities Alert! Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Start Page Contents: Abnormalities Aicardi Syndrome (not on MeSH) Amniotic Band Syndrome Anencephaly ... Wolf-Hirschhorn Syndrome (not on MeSH) Congenital, Hereditary, and Neonatal Diseases and Abnormalities The US National Organization for Rare Disorders , including a Rare Disease Database , and a List of Disease-specific Organizations Search Jablonski's MCA/MR Syndromes Database [Congenital Abnormalities associated with Mental Retardation] - NLM (US) Indice delle malattie [in Italian] - InformaGene (IT) A Short History of Mapping [P Murphy] GENATLAS: Pathology Search [J Frezal] - Univ Rene Descartes, Paris (FR) OrphaNet [rare diseases] - (FR) A Birth Disorder Information Directory - Spamgid.com
Pap9814.html oculocerebrorenal syndrome of Lowe Variation in phenotype Introduction oculocerebrorenal syndrome of Lowe is a rare metabolic disorder first described in 1952 http://med-aapos.bu.edu/AAPOS1999/post9957.html
Extractions: This article has been cited by other articles: 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). N Engl J Med [Abstract] [Full Text] ANIKSTER, Y., LUCERO, C., GUO, J., HUIZING, M., SHOTELERSUK, V., BERNARDINI, I., McDOWELL, G., IWATA, F., KAISER-KUPFER, M. I., JAFFE, R., THOENE, J., SCHNEIDER, J. A., GAHL, W. A. (2000). Ocular Nonnephropathic Cystinosis: Clinical, Biochemical, and Molecular Correlations.
