1. 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://www.emedicine.com/oph/topic516.htm

(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 Oculocerebrorenal Syndrome 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

2. 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

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 A Guide for Parents, Friends, and Professionals (©2000) 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: Attree O, Olivos IM, Okabe I, Bafley LC, Nelson DL, Lewis RA, McInnes RR, Nussbaum RL (1992):

3. 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

Diseases Database Index Sponsors Contact ... Previous Page Lowe's syndrome Information Search 5 synonyms or equivalents were found. Lowe's syndrome aka/or Lowe-Terry-MacLachlan syndrome aka/or Oculocerebral syndrome aka/or Oculocerebrorenal syndrome aka/or Lowe-Bickel syndrome may cause or feature (Follow link for list) belong(s) to the category of (Follow link for list) Lowe's syndrome: Definition(s) via UMLS Code translations and terms via UMLS Lowe's syndrome: specific sites Send Lowe's syndrome to medical search engines (JavaScript enabled browsers only) If your browser has no JavaScript you can still use these: Search using Internet medical databases Search using Internet search engines (non-specialist) We subscribe to the HONcode principles of the Health On the Net Foundation i-medicine.info - the evidence based medicine, informatics and audit portal Valid XHTML 1.0 Served 2004-06-03 01:30:05 Metadata Updated 2004-05-22

4. EMedicine - Oculocerebrorenal Dystrophy (Lowe Syndrome) : Article Excerpt By: Me The diagnostic triad of the oculocerebrorenal syndrome of Lowe (OCRL) includes congenital cataracts, neonatal or infantile hypotonia with subsequent mental http://www.emedicine.com/ped/byname/oculocerebrorenal-dystrophy-(lowe-syndrome).

(advertisement) Excerpt from Oculocerebrorenal Dystrophy (Lowe Syndrome) 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 Please click here to view the full topic text: Oculocerebrorenal Dystrophy (Lowe 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.

5. 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

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 HC The Encyclopaedia of Medical Imaging Volume VII Contacts GE Healthcare Making Waves

6. 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.

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. GS The Encyclopaedia of Medical Imaging Volume VI:1 Contacts GE Healthcare Making Waves

7. 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

8. Oculocerebrorenal Syndrome oculocerebrorenal syndrome. http://bioresearch.ac.uk/browse/mesh/C0028860L0028860.html

low graphics Oculocerebrorenal Syndrome 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] Last modified: 27 May 2004

9. OMIM - LOWE OCULOCEREBRORENAL SYNDROME; OCRL http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309000

10. 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_

Home Links Professional Resources Physicians ... Translate TEXT SEARCH STRUCTURED SEARCHES PubMed Nucleotide OMIN PopSet Taxonomy DNA Sequences Protein Sequences 3D Structures Complete Genomes for: 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.

11. 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

Lowe oculocerebrorenal syndrome This disease is described in an article in GeneReviews SimulConsult Inc.

12. Kidney Resource Page Cystinosis Diabetes Insipidus Fanconi Syndrome Renal Glycosuria Familial hypophosphaturia oculocerebrorenal syndrome Pseudohypoaldosteronism Renal Tubular http://links.nephron.com/

Home Links Professional Resources Physicians ... Translate TEXT SEARCH STRUCTURED SEARCHES PubMed Nucleotide OMIN PopSet Taxonomy DNA Sequences Protein Sequences 3D Structures Complete Genomes for: 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 Acute Kidney Failure Albuminuria Chronic Kidney Disease Cystic Kidneys ... Chronic Kidney Failure 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 ... Scleroderma Interstitial Nephritis Allergic Nephropathies Balkan Nephropathy Myeloma Kidney Chemotherapy ... Heavy Metals RPGN Anti GBM Disease Churg-Strauss Disease Goodpasture Syndrome Microscopic Variant of PAN ... Wegeners Granulomatosis Hereditary Nephritis Alport Syndrome Nail Patella Syndrome Other Conditions

13. GASNet Anesthesiology: Lowe Syndrome Lowe Syndrome (oculocerebrorenal syndrome) symptoms and caveats Lowe Syndrome. - oculocerebrorenal syndrome - http://gasnet.med.yale.edu/pediatric-syndromes/lowe.php

14. Oculocerebrorenal Syndrome Google, WWW Medical.WebEnds.com. oculocerebrorenal syndrome. Cerebrooculorenal Syndrome; Lowe Syndrome; CerebroOculo-Renal Syndrome http://medical.webends.com/kw/Oculocerebrorenal Syndrome

Medical.WebEnds.com - Medical Terminology Dictionary A B C D ... Z WWW Medical.WebEnds.com Oculocerebrorenal Syndrome 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) Google links eMedicine - Oculocerebrorenal Syndrome ... : Article by DM Alcorn, MD http://www.emedicine.com/oph/topic516.htm eMedicine - Oculocerebrorenal Syndrome : Article Excerpt by: DM http://www.emedicine.com/oph/byname/oculocerebrorenal-syndrome.htm

15. 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

search search staff sitemap ABOUT KAROLINSKA INSTITUTET ... print this page 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

16. PharmGKB: Oculocerebrorenal Syndrome oculocerebrorenal syndrome. Alternate Names Cerebro Oculo Renal Syndrome; CerebroOculo-Renal Syndrome; Cerebro-Oculo-Renal Syndromes http://www.pharmgkb.org/do/serve?objId=PA445138&objCls=Disease

17. 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

18. NEJM -- Clinical And Laboratory Findings In The Oculocerebrorenal Syndrome Of Lo Original Article from The New England Journal of Medicine Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference http://content.nejm.org/cgi/content/short/324/19/1318

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services Previous Volume 324:1318-1325 May 9, 1991 Number 19 Next Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function LR Charnas, I Bernardini, D Rader, JM Hoeg, and WA Gahl Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited ... PubMed Citation Abstract Source Information Unit on Neurogenetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892. 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.

19. Short Description Of Cell Lines. Pathology: Lowe Oculocerebrorenal Syndrome *309 Version 4.200205, Short description of cell lines. Pathology Lowe oculocerebrorenal syndrome *309000 OMIM record. By selecting http://www.biotech.ist.unige.it/cldb/pat110.html

Version Short description of cell lines. Pathology: Lowe oculocerebrorenal syndrome OMIM record By selecting the cell line name , you will receive the detailed description of the cell line By selecting one of the terms between parentheses, you will receive the list of all relevant cell lines You can search any term of the list by using the 'Find' utility of your browser human, Caucasian skin, fibroblast GEIMM By Beatrice...

20. Penn State Faculty Research Expertise Database (FRED) Faculty Research Expertise Database. oculocerebrorenal syndrome. CerebroOculo-Renal Syndrome, Lowe Disease. Lowe oculocerebrorenal syndrome, Lowe-Bickel Syndrome. http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D009800

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 1     1-20 of 99    1  | 2  | 3  | 4  | 5  | Next 20