1. Lowe Syndrome Association Home Page lowe syndrome Association Home Page. Home Page. What is the lowe syndrome Association? In 1983 a handful of parents founded the lowe syndrome Association (LSA). http://www.lowesyndrome.org/

Home Page 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 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. What is the Lowe Syndrome Association? 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

2. 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.

3. Lowe Syndrome / Family Village Library Search Google for "lowe syndrome" Who to Contact. lowe syndrome Association professionals, and others who are interested in lowe syndrome (LS), a rare genetic condition that affects http://www.familyvillage.wisc.edu/lib_lowe.htm

Lowe Syndrome Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search Google for "Lowe Syndrome" Who to Contact Lowe Syndrome Association 222 Lincoln Street West Lafayette IN 47906 E-mail: info@lowesyndrome.org Web: http://www.lowesyndrome.org/ The LSA is an international, voluntary, non-profit organization made up of parents, friends, professionals, and others who are interested in Lowe syndrome (LS), a rare genetic condition that affects boys. We've been working since 1983 to develop a community of support and encouragement for families affected by LS. Where to Go to Chat with Others LSA-Talk Share concerns, questions, experiences and advice regarding Lowe syndrome and issues relating to the LSA. Learn More About It What is Lowe Syndrome? Lowe Syndrome information from OMIM Caring for Children's Teeth in Lowe Syndrome Web Sites Lowe Syndrome Association UK Lowe Syndrome Trust Lowe Syndrome Mutation Database Association du syndrome de Lowe — France ... l'Associazione Italiana della Sindrome di Lowe — Italy Back to [ K - L Family Village Home Library Coffee Shop ... Information Last Updated 1/22/2004 by familyvillage@waisman.wisc.edu

4. Lowe Syndrome lowe syndrome. Lowe's Syndrome Association, Inc. 222 Lincoln St http://www.kumc.edu/gec/support/lowe.html

Lowe syndrome Lowe's Syndrome Association, Inc. 222 Lincoln St West Lafayette, IN 47906 Phone: (317) 743-3634 Contact: Kaye McSpadden E-mail: kayeuulsa@aol.com Also See: National organizations with information on genetic conditions or birth defects - variety of resources To locate a genetic counselor or geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments Genetic Societies Clinical Resources ... Search Genetics Education Center Debra Collins, M.S. CGC , Genetic Counselor, dcollins@kumc.edu This site subscribes to the principles of the HONcode (Health on the Net, Code of Conduct for Medical and Health Web Sites) of the Health On the Net Foundation

5. Lowe Syndrome - DNA Analysis lowe syndrome, DNA Analysis. lowe syndrome DNA ANALYSIS See also Phosphatidylinositol4,5- Bisphoshate Phosphatase - Biochemical Analysis. http://www.bcmgeneticlabs.org/tests/dna/lowe.html

LOWE SYNDROME DNA ANALYSIS See also: Phosphatidylinositol-4,5- Bisphoshate Phosphatase - Biochemical Analysis Open Page in New Window Print This Page Return to Search ... Recommended Flowchart for Lowe Syndrome Diagnostic Testing Reasons for Referral: Lowe Syndrome DNA testing for individuals with phenotypic features. Unusual phenotypes (such as Lowe syndrome in a female) should be discussed in advance. Carrier testing in females with a definite family history of Lowe Syndrome (in conjunction with a careful ophthalmological examination). Prenatal diagnosis in families with an identified mutation in the gene. Note: Prenatal biochemical enzymatic testing on male fetuses can be performed in cases where a familial mutation has not been identified. Testing Methodology: Patient genomic DNA will undergo mutation analysis of exons 10-18 and 19-23 of the OCRL1 gene, a region containing ~93% of identified mutations. Male patients will be analyzed by PCR-based automated fluorescent sequence analysis in both the forward and reverse orientations. If a mutation is identified in the male proband, additional relatives can be sequenced for the familial mutation. DNA sequencing has a detection rate of ~99% and remains the DNA test of choice. In the absence of a male proband, carrier testing on high-risk females can be performed by denaturing high performance liquid chromatography (DHPLC) analysis, that has a lower estimated detection rate (~95%).

6. Lowe Syndrome Association lowe syndrome Association Home Page. Home Living with lowe syndrome A Guide for Parents, Friends, and Professionals (©2000). Table http://www.lowesyndrome.org/lwls/lwls-toc.html

Home Page Publications Living with Lowe Syndrome 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 Table of Contents Foreword I. Frequently Asked Questions II. Background A. Historical Review B. Incidence and Prevalence

7. Lowe Syndrome Mutation Database eMedicine Oculocerebrorenal Dystrophy (lowe syndrome) Article Oculocerebrorenal Dystrophy (lowe syndrome) - In 1952, Lowe and colleagues described an infant with congenital cataracts and mental retardation. http://research.nhgri.nih.gov/lowe/

Research @ NHGRI 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, 25-Jun-2002 08:57:42 EDT Comments, suggestions and problems to bioinformatics@nhgri.nih.gov www.genome.gov Privacy Site Map ... Home

8. Pediatric Database An in depth look at lowe syndrome starting with a definition, epidemiology, pathogenesis, clinical features, investigations and management. http://www.icondata.com/health/pedbase/files/LOWE(OCU.HTM

9. GeneReviews: Lowe Syndrome 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. 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.

10. Readers Digest Health lowe syndrome, its alternate names, a general discussion and resources. http://www.rd.com/common/nav/index.jhtml?articleId=8612077

11. Lowe Syndrome - Information / Diagnosis / Treatment / Prevention home genetic disorders lowe syndrome lowe syndrome. National Library of Medicine LS lowe syndrome, the synonyms, a summary and list of major features. http://www.healthcyclopedia.com/genetic-disorders/lowe-syndrome.html

Home Health cyclopedia All Topics by Category The Good Health Search Engine Health Conditions A-Z Gurus ... genetic disorders > lowe syndrome Lowe Syndrome Information / Diagnosis / Treatment / Prevention External links (marked with an arrow ) open in a new window. This site is a web directory and does not offer medical advice. We cannot take responsibility for information found on listed sites. This Page Related Topics Medical Definition Health News Web Directory: Related Topics: Neurological Disorders/Brain Diseases Nutrition and Metabolism Disorders Medical Definition: University of Newcastle-upon-Tyne Medical Dictionary: "Lowe's syndrome" Health News: Search millions of published articles for news on Lowe Syndrome Modern Medicine Aging The Ardell Wellness Report HealthFacts Medical Post Medical Update Men's Health and the National Women's Health Report Note: Subscription required to access the full text of articles. Web Directory: Lowe Syndrome Association Information about this disease and the international organization that deals with it. National Library of Medicine: LS Lowe syndrome, the synonyms, a summary and list of major features.

12. EMedicine - Oculocerebrorenal Dystrophy (Lowe Syndrome) : Article By Melissa Was Oculocerebrorenal Dystrophy (lowe syndrome) In 1952, Lowe and colleagues described an infant with congenital cataracts and mental retardation. When more patients were described, the phenotype http://www.emedicine.com/ped/topic1329.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Oculocerebrorenal Dystrophy (Lowe Syndrome) Last Updated: December 12, 2003 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 , Assistant Professor, Department of Pediatrics, University of Pennsylvania and Children's Hospital of Philadelphia; Robert Konop, PharmD

13. Lowe Syndrome Association While not present at birth, many lowe syndrome boys develop kidney problems at approximately one year of age and syndromes. In lowe syndrome, the Fanconi syndrome may be mild and http://www.lowesyndrome.org/ls/lsWhatIs.html

Home Page What is Lowe Syndrome? 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 What is Lowe Syndrome? Lowe Syndrome (LS) is a rare genetic condition that causes physical and mental handicaps, and medical problems. It was first described in 1952 by Drs. Lowe, Terrey, and MacLachlan at the Massachusetts General Hospital in Boston. The condition became known as "Lowe syndrome" named after Dr. Charles Lowe, the senior member of the group that described it. Because of the three major organ systems involved (eyes, brain, and kidney), it is also known as OCRL (oculo-cerebro-renal) syndrome. Boys with Lowe Syndrome are born with cataracts in both eyes, which are usually removed at a few months of age. Most boys are fitted with glasses, contacts, or a combination of the two. Glaucoma is present in about 50% of the boys with Lowe syndrome, though usually not at birth. Prescription eye drop and/or surgery is required to maintain appropriate eye pressure in these cases.

14. Lowe Syndrome lowe syndrome, also known as oculocerebro-renal syndrome, is a rare inherited metabolic disease that affects males. lowe syndrome. http://www.bchealthguide.org/kbase/nord/nord109.htm

document.write(''); var hwPrint=1; var hwDocHWID="nord109"; var hwDocTitle="Lowe Syndrome"; var hwRank="1"; var hwSectionHWID="nord109"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. Lowe Syndrome Important It is possible that the main title of the report 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 Related Disorders List Information on the following diseases can be found in the Related Disorders section of this report: Cystinosis Cystinuria Vitamin D Resistant Rickets Hypophosphatemic Rickets Renal Fanconi Syndrome Polycystic Kidney Disease-Cataract-Blindness 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.

15. Lowe Syndrome Founded 1983. Fosters communication among families with lowe syndrome. Provides medical and educational information. lowe syndrome. lowe syndrome Association. http://www.bchealthguide.org/kbase/shc/shc29low.htm

document.write(''); var hwPrint=1; var hwDocHWID="shc29low"; var hwDocTitle="Lowe Syndrome"; var hwRank="1"; var hwSectionHWID="shc29low"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="SHC"; Self Help Clearinghouse Lowe Syndrome Lowe Syndrome Association International network. Founded 1983. Fosters communication among families with Lowe syndrome. Provides medical and educational information. 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: 5/1/2003 The above information is based upon information available through the "verified" date at the end of each listing. Since American Self-Help Group Clearinghouse's resources are limited; it is not possible to keep every entry in the American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information and assistance about self-help groups, please contact the American Self-Help Group Clearinghouse in Cedar Knolls, New Jersey, by email at: info@selfhelpgroups.org

16. Lowe Syndrome,oculo-cerebro-renal,OCR,LS,lowe Syndrome,oculo-cerebro-renal,OCR,L lowe syndrome,oculocerebro-renal,OCR,LS,lowe syndrome,oculo-cerebro-renal,OCR,LS. lowe syndrome also known as lowe syndrome Oculo-cerebro-renal OCR LS http://www.icomm.ca/geneinfo/lowe.html

lowe syndrome,oculo-cerebro-renal,OCR,LS The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Lowe syndrome also known as: Lowe syndrome Oculo-cerebro-renal OCR LS (as defined at http://www.lowesyndrome.org/ls/lsWhatIs.html What is Lowe Syndrome? Lowe Syndrome (LS) is a rare genetic condition that causes physical and mental handicaps, and medical problems. It was first described in 1952 by Drs. Lowe, Terrey, and MacLachlan at the Massachusetts General Hospital in Boston. The condition became known as "Lowe syndrome" named after Dr. Charles Lowe, the senior member of the group that described it. Because of the three major organ systems involved (eyes, brain, and kidney), it is also known as OCRL (oculo-cerebro-renal) syndrome. Boys with Lowe Syndrome are born with cataracts in both eyes, which are usually removed at a few months of age. Most boys are fitted with glasses, contacts, or a combination of the two. Glaucoma is present in about 50% of the boys with Lowe syndrome, though usually not at birth. Prescription eye drop and/or surgery is required to maintain appropriate eye pressure in these cases.

17. Lowe Syndrome lowe syndrome Important It is possible that the main title of the report lowe syndrome is not the name you expected. Please check 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 Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Choose a Topic 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.

18. Lowe Syndrome lowe syndrome Association. lowe syndrome lowe syndrome Association International network. Founded 1983. Fosters communication among families with lowe syndrome. 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 Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Choose a Topic 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. Fosters communication among families with Lowe syndrome. Provides medical and educational information. 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: 5/1/2003 The above information is based upon information available through the "verified" date at the end of each listing. Since American Self-Help Group Clearinghouse's resources are limited; 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 and assistance about self-help groups, please contact the American Self-Help Group Clearinghouse in Cedar Knolls, New Jersey, by email at: info@selfhelpgroups.org

19. NORD - National Organization For Rare Disorders, Inc. lowe syndrome. To purchase fulltext report ($7.50) View Cart/Checkout. Copyright 1986, 1987, 1988, 1989, 1990, 1992, 1994, 1997, 1999 Synonyms of lowe syndrome http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Lowe Syndrome

20. Healthfinder® - Lowe's Syndrome Carefully selected government and nonprofit health information on Lowe s Syndrome. healthfinder® home page, details lowe syndrome Association, Inc. http://www.healthfinder.gov/Scripts/SearchContext.asp?topic=505

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