1. Lowe Syndrome Association Home Page Information about this disease and the international organization that deals with it. http://www.lowesyndrome.org/

breadCrumbs("www.lowesyndrome.org",">>","index.html","breadcrumbs","breadcrumbsTitle","breadcrumbs","0"); Welcome to the LSA Lowe Syndrome (LS) is a rare genetic condition that causes physical and mental handicaps, and medical problems. Also called the oculo-cerebro-renal (OCRL) syndrome, it was first described in 1951 by Dr. Charles Lowe and colleagues. In 1983 a handful of parents founded the Lowe Syndrome Association (LSA). The LSA is an international, voluntary, non-profit organization made up of parents, friends, professionals, and others who are interested in Lowe syndrome, a rare genetic condition that affects boys. The primary purposes of the LSA are: to foster communication among families, to promote a better understanding of the syndrome, to provide medical and educational information, and to encourage and support research. Since Lowe syndrome is rare, affected families often feel isolated and alone. If you know of such a family, you can help by giving them information about the Lowe Syndrome Association If you are a family affected by Lowe syndrome, please contact us . You are but an email message away from linking with other families living with this rare and complicated condition. If our work inspires you to want to help, think about becoming a

2. Lowe Syndrome Association Home Page lowe syndrome Association http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

3. Living With Lowe Syndrome lowe syndrome Association. Glossary of Common Medical Terms in lowe syndrome X. Medical and Scientific References. This publication was made possible http://www.lowesyndrome.org/Lowe Syndrome/Publications/Living with Lowe Syndrome

breadCrumbs("www.lowesyndrome.org",">>","index.html","breadcrumbs","breadcrumbsTitle","breadcrumbs","0"); 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 Table of Contents Foreword I. Frequently Asked Questions II. Background A. Historical Review B. Incidence and Prevalence III. Medical Features A. Diagnosis B. Eyes 1. Cataracts 2. Glaucoma 3. Corneal degeneration 4. Strabismus 5. Nystagmus 6. Enucleation C. Brain and central nervous system 1. Intellectual impairment 2. Seizure disorders 3. Behavior problems 4. Physical changes in the brain 5. Hypotonia D. Kidneys 1. Kidney "wasting" and replacement therapy 2. Other abnormal lab findings 3. Nephrocalcinosis

4. Lowe Syndrome (LS) lowe syndrome, the synonyms, a summary and list of major features. http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome401.html

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome Lowe syndrome (LS) Synonyms Lowe-Terrey-MacLachlan syndrome oculocerebrorenal (OCR, OCRL) syndrome Summary A syndrome of congenital cataracts, hydrophthalmia, delayed growth and mental development, vitamin D-resistant rickets, aminoaciduria, and reduced production of ammonia by the kidneys. Additional manifestations include areflexia, hypotonia, glaucoma, corneal keloid, and noninflammatory arthropathy. Major Features Eyes: Cataracts, hydrophthalmia, corneal opacity, glaucoma, corneal keloid, and nystagmus. Thorax: Pectus excavatum. Muscles: Hypotonia and hypoplasia. Bones and joints: Vitamin D resistant rickets, joint hypermobility, noninflammatory arthropathy, osteoporosis, and fractures. Nervous system: Intention tremor, seizures, and diminished deep tendon reflexes. Urogenital system: Renal tubular dysfunction, underdeveloped glomeruli, and progressive renal failure. Cryptorchidism is the main genital abnormality. Biochemical and metabolic features: Hyperchloremic acidosis, acid urine, reduced ammonia production, proteinuria, aminoaciduria, phosphaturia, carnitine wasting, and elevated creatine kinase, aspartate aminotransferase, lactate dehydrogenase, total serum proteins, alpha-2-globulin, and high density lipoprotein.

5. Lowe Syndrome (LS) lowe syndrome, the synonyms, a summary and list of major features. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

6. UK Lowe Syndrome Trust The lowe syndrome Trust is a small, voluntary charity funding medical researchinto the incurable children disease called lowe syndrome. http://www.lowetrust.com/

registered charity no Home Fundraising Events About the Charity Lowe ... Contact The Lowe Syndrome Trust is a small, voluntary charity funding medical research into the incurable children' disease called Lowe Syndrome. Since forming in June 2000, the charity has funded five UK research Projects (see side links). Jonathan Ross (Trustee) Appeal Hyde Park FLORA fun run 4th Sept 05 Maps Details. New! Cycle Tour Tower Bridge Reims 2006 click for details New! LONDON MARATHON 2006 click for entry details New! July 2005 UCL Moorfields Eye Hospital Grant Award New! sponsor Skateboarding across Australia donate Richard Desmond new Trust Patron! 12th June Two castles Run donate sponsor forms Black and White Ball Report and Pictures available. Download Jonathan Ross

7. Lowe's Syndrome What is lowe syndrome? In lowe syndrome children are born with problems with their Eyes. Brain and. Kidneys http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

8. Back lowe syndrome is caused by a low activity of the enzyme inositol A completedescription is available from the lowe syndrome Association USA booklet http://www.lowetrust.com/about_lowes.shtml

back Lowe Syndrome (updated August 2005). Lowe syndrome is caused by a low activity of the enzyme inositol polyphosphate 5-phosphatase OCRL-1, which is encoded by the OCRL "Lowe Syndrome" is named after Doctors Lowe, Terrey, and MacLachlan who first described it in 1952 at the Massachusetts General Hospital in Boston. Because of the three major organ systems involved (eyes, brain, and kidney), it is also known as OCRL (Oculo-Cerebro-Renal) syndrome. The syndrome is apparent in all races, cultures and nationalities and mostly affects boys The syndrome is caused by a DNA mutation* - a single defective gene on the X-chromosome - that results in the lack of an enzyme. The mutation can occur without any family history (a spontaneous mutation) or may be inherited through the mother. Babies are born with l cataracts in both eyes, hypotomia (muscle weakness), kidney problems (wasting of essential nutrients) impaired growth, intellectual impairment and later may suffer brittle bones, arthritis, rickets, epilepsy (seizures) and behavior problems (autistic spectrum disorder). Many also have cysts and dental problems. *Lowe syndrome can be caused by mutation in the OCRL1 gene ), mutations in which also cause

9. Lowe Syndrome - DNA Analysis The OculoCerebro-Renal Syndrome of Lowe (OCRL) is a rare X-linked disorder characterized by congenital cataracts, neuromuscular hypotonia, mental http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

10. EMedicine - Oculocerebrorenal Dystrophy (Lowe Syndrome) : Article By Melissa Was Oculocerebrorenal Dystrophy (lowe syndrome) In 1952, Lowe and colleaguesdescribed an infant with congenital cataracts and mental retardation. http://www.emedicine.com/ped/topic1329.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Oculocerebrorenal Dystrophy (Lowe Syndrome) Last Updated: September 15, 2004 Rate this Article Email to a Colleague Synonyms and related keywords: 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 AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Melissa Wasserstein, MD , Assistant Professor, Departments of Human Genetics and Pediatrics, Mount Sinai School of Medicine Melissa Wasserstein, MD, is a member of the following medical societies: American Society of Human Genetics Editor(s): Ian Krantz, MD

11. Lowe Syndrome lowe syndrome, also known as oculocerebro-renal syndrome, is a rare inherited metabolic disease that affects males. This disorder is characterized http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

12. EMedicine - Oculocerebrorenal Syndrome : Article By DM Alcorn, MD Mutations in the OCRL1 gene result in the lowe syndrome phenotype. Charnas LR,Nussbaum RI The Oculocerebrorenal Syndrome of lowe syndrome. http://www.emedicine.com/oph/topic516.htm

(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 Oculocerebrorenal Syndrome 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

13. Newsday.com A Much-needed Lift get a chance to do it now since he is older and can better understand it." Alec has cataracts due to lowe syndrome, a rare genetic condition. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

14. Lowe Syndrome Mutation Database lowe syndrome / Family Village LibraryLearn More About It * Web Sites * Search Google for lowe syndrome . Who to Contact.lowe syndrome Association 222 Lincoln Street West Lafayette IN 47906 http://research.nhgri.nih.gov/lowe/

Home About NHGRI Newsroom Staff ... Online Research Resources Lowe Syndrome Mutation Database Lowe Syndrome Mutation Database Database of the OCRL1 Mutations Causing Lowe Syndrome 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. A database of mutations causing Lowe syndrome has been established. Information on new mutations may be submitted online. OCRL1 mutation database Reported OCRL1 mutations causing Lowe Syndrome Numbering of exons, nucleic acid sequence, and protein sequence used in this database List of investigators References Other Resources Submit a new mutation Last modified: Tuesday, 07-Jun-2005 16:08:11 EDT Comments, suggestions and problems to bioinformatics@nhgri.nih.gov Privacy Contact Accessibility ... Home

15. UK Lowe Syndrome Trust Patient Register Contact Welcome to the UK lowe syndrome Charity website January 2005 Newsletter Run the New York Marathon November 2005 http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

16. GeneReviews: Lowe Syndrome Your browser does not support HTML frames so you must view lowe syndrome in aslightly less readable form. Please follow this link to do so. http://www.geneclinics.org/profiles/lowe/

Your browser does not support HTML frames so you must view Lowe Syndrome in a slightly less readable form. Please follow this link to do so.

17. Back lowe syndrome. lowe syndrome is caused by a low activity of the enzyme inositol polyphosphate 5phosphatase OCRL-1, which is encoded by the OCRL http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

18. Lowe Syndrome lowe syndrome, also known as oculo cerebro - renal syndrome, is a rare inheritedmetabolic disease that http://my.webmd.com/hw/health_guide_atoz/nord109.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Lowe Syndrome Important It is possible that the main title of the report Lowe Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Cerebro-Oculorenal Dystrophy Lowe's Disease Lowe-Bickel Syndrome Lowe-Terry-MacLachlan Syndrome LS OCRL Oculocerebrorenal Dystrophy Oculocerebrorenal Syndrome Renal-Oculocerebrodystrophy Disorder Subdivisions None General Discussion Lowe Syndrome, also known as oculo-cerebro-renal syndrome, is a rare inherited metabolic disease that affects males. This disorder is characterized by lack of muscle tone (hypotonia), multiple abnormalities of the eyes and bones, the presence at birth of clouding of the lenses of the eyes (cataracts), mental retardation, short stature, and kidney problems. Other findings may include protrusion of the eyeball from the eye socket (enophthalmos); failure to gain weight and grow at the expected rate; weak or absent deep tendon reflexes; and multiple kidney problems (e.g., renal tubular dysfunction, renal hyperaminoaciduria, etc.). Lowe Syndrome is inherited as an X-linked genetic trait and symptoms develop due to lack of the enzyme phosphatidylinositol 4,5-biphosphate 5 phosphatase.

19. Lowe Syndrome Protein OCRL1 Interacts With Rac GTPase In The lowe syndrome protein OCRL1 interacts with Rac GTPase in the transGolgi network Ad le Faucherre1 , Pierrette Desbois1 , V ronique Satre2 http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

20. Lowe Syndrome International network. Founded 1983. For parents, friends, professionals andothers who are interested http://my.webmd.com/hw/health_guide_atoz/shc29low.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... Lowe Syndrome Association Lowe Syndrome Lowe Syndrome Association International network. Founded 1983. For parents, friends, professionals and others who are interested in Lowe Syndrome. Provides medical and educational information and online discussion. Supports medical research. Offers booklet, newsletter. International conference. Dues $15 (can be waived if parents are in need). WRITE: Lowe Syndrome Assn. 222 Lincoln St. W. Lafayette, IN 47906 CALL: 765-743-3634 E-MAIL: info@lowesyndrome.org WEBSITE: http://lowesyndrome.org VERIFIED: 4/22/2005 The above information was "verified" as correct on the date at the end of each entry. Since American Self-Help Group Clearinghouse's database is extensive but staffing is limited and information for these organizations can change, it is not possible to keep every entry in American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information on self-help groups, please visit the American Self-Help Group Clearinghouse web site at http://www.mentalhelp.net/selfhelp

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