21. Lowe Syndrome - DNA Analysis The OculoCerebro-Renal Syndrome of Lowe (OCRL) is a rare X-linked disordercharacterized by congenital cataracts, neuromuscular hypotonia, http://www.bcmgeneticlabs.org/tests/dna/lowe.html

LOWE SYNDROME DNA ANALYSIS See also: Phosphatidylinositol-4,5- Bisphosphate Phosphatase - Biochemical Analysis Open Page in New Window Print This Page Return to Search The Oculo-Cerebro-Renal Syndrome of Lowe (OCRL) is a rare X-linked disorder characterized by congenital cataracts, neuromuscular hypotonia, mental retardation, infantile glaucoma in half of affected males, vitamin D-resistant rickets, and renal tubular dysfunction. Affected males have a mean IQ in the moderate mental retardation range, and most exhibit maladaptive behaviors. Heterozygote carrier females have distinctive mild "snowflake" lenticular opacities that are detectable by slit-lamp ocular examination after pupillary dilation. The Lowe Syndrome gene at chromosome Xq25-q26 is , which encodes a phosphatidylinositol 4,5 bisphosphate (PtdIns[4,5]P2) 5-phosphatase that has been localized to the trans-Golgi network. The complex phenotype of Lowe Syndrome is due to an inborn error of inositol phosphate metabolism, and diagnostic testing in affected males is available through biochemical enzyme analysis. Multiple mutations in the gene have been identified including missense and nonsense mutations, small deletions and insertions, and larger genomic deletions. The gene consists of 24 exons, of which 23 are coding. Approximately 97% of males with a definite clinical diagnosis of Lowe Syndrome have mutations identified in the

22. Phosphatidylinositol-4, 5-Bisphospate Phosphatase - Biochemical Analysis Phosphatidylinositol4,5- Bisphoshate Phosphatase, lowe syndrome, OCRL, The Oculo-Cerebro-Renal Syndrome of Lowe (OCRL, lowe syndrome) is a multisystem http://www.bcmgeneticlabs.org/tests/biochem/phosphatidylinositol-4.html

PHOSPHATIDYLINOSITOL-4, 5-BISPHOSPHATE PHOSPHATASE Lowe Syndrome, OCRL BIOCHEMICAL ANALYSIS See also: Lowe Syndrome - DNA Analysis Open Page in New Window Print This Page Return to Search Description: The Oculo-Cerebro-Renal Syndrome of Lowe (OCRL, Lowe Syndrome) is a multisystem disorder characterized by neuromuscular hypotonia and failure to thrive, congenital dense cataracts (and risk for infantile glaucoma), renal failure associated with broad-spectrum aminoaciduria, rickets, and mental and developmental retardation. The disease is inherited as an X-linked trait. The OCRL gene encodes an enzyme, phosphatidylinositol-4, 5-bisphosphate phosphatase, that is involved in inositol metabolism. This assay utilizes a radiolabeled substrate and the conversion of substrate to product is measured following separation by thin layer chromatography. Specimen Requirements: The assay is performed on cultured skin fibroblasts only. For fibroblasts, send two T25 flasks of confluent cells in an insulated container by overnight carrier. Contact the laboratory for information regarding prenatal diagnosis studies. Prenatal diagnosis for Lowe syndrome can be performed on cultured amniocytes or chorionic villus cells. Prior approval by the laboratory is required. Normal Range: Fibroblasts: 2-5 nmoles/min/mg protein

23. Oculocerebrorenal Dystrophy (Lowe Syndrome) Article describes oculocerebrorenal dystrophy, also known as lowe syndrome, itssymptoms, diagnosis, and treatment. http://rarediseases.about.com/od/rarediseaseso/a/071704.htm

var zLb=8; var zIoa1 = new Array('Elsewhere on the Web','Lowe Syndrome Association','http://www.lowesyndrome.org/index.html','UK Lowe Syndrome Trust','http://www.lowetrust.com/'); zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a70' About Rare / Orphan Diseases Rare Diseases I - L Rare Diseases: L Oculocerebrorenal Dystrophy (Lowe Syndrome) Rare Diseases Essentials Rare Diseases: Basic Information Rare Diseases Support Groups ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/6.htm','');w(xb+xb); FREE Newsletter Sign Up Now for the Rare / Orphan Diseases newsletter! See Online Courses Search Rare / Orphan Diseases Stay up to date! Compare Prices Email to a friend ... Print this page Elsewhere on the Web Lowe Syndrome Association UK Lowe Syndrome Trust Most Popular Muscular Dystrophy ALD and Lorenzo's Oil Progeria Syndromes Leprosy (Hansen's Disease) ... The Elephant Man What's Hot Muscular Dystrophy Autoimmune Kidney Disease Minamata Disease Charcot-Marie-Tooth Disease ... Meckel-Gruber Syndrome adunitCM(150,100,'x55') Oculocerebrorenal Dystrophy (Lowe Syndrome) From Mary Kugler Your Guide to Rare / Orphan Diseases FREE Newsletter.

24. Oculocerebrorenal Dystrophy (Lowe Syndrome) This inherited disorder is linked to the X (female) chromosome, so the majorityof individuals affected by it are male. The syndrome consists of eye, http://rarediseases.about.com/b/a/099461.htm

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a70' About Rare / Orphan Diseases Rare Diseases Essentials ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/6.htm','');w(xb+xb); FREE Newsletter Sign Up Now for the Rare / Orphan Diseases newsletter! See Online Courses Search Rare / Orphan Diseases Oculocerebrorenal Dystrophy (Lowe Syndrome) Rare/Orphan Diseases Blog Main From Mary Kugler Your Guide to Rare / Orphan Diseases FREE Newsletter. Sign Up Now! July 17, 2004 Oculocerebrorenal Dystrophy (Lowe Syndrome) This inherited disorder is linked to the X (female) chromosome, so the majority of individuals affected by it are male. The syndrome consists of eye, muscle, and kidney disorders. Email a Friend Display Latest Headlines Read Archives Advertisement Most Popular Muscular Dystrophy ALD and Lorenzo's Oil Progeria Syndromes Leprosy (Hansen's Disease) ... The Elephant Man What's Hot Muscular Dystrophy Autoimmune Kidney Disease Minamata Disease Charcot-Marie-Tooth Disease ... Meckel-Gruber Syndrome adunitCM(150,100,'x55') Topic Index Email to a Friend Our Story Be a Guide ... Patent Info.

25. Lowe Syndrome Lowe s Syndrome Association, Inc. 222 Lincoln St West Lafayette, IN 47906Phone (317) 7433634 Contact Kaye McSpadden E-mail kayeuulsa@aol.com 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

26. RDInfo- Research And Development Information Charity Details in June 2000 as an affiliate of the USA lowe syndrome Association (LSA).The charity initiates and funds medical research into lowe syndrome in the UK, http://www.rdinfo.org.uk/queries/ListCharityDetails.asp?CharityID=1136

27. RDInfo - Research And Development Information Details Of The lowe syndrome Trust. This organisation funds the award(s) listed below Call for Research Proposals in lowe syndrome, £50000 in the first instance. http://www.rdinfo.org.uk/Queries/ListGrantsFromCharity.asp?CharityID=1136&Closin

28. LOWE SYNDROME : Contact A Family - For Families With Disabled Children: Informat Contact a Family is a UK charity for families with disabled children. We offerinformation on specific conditions and rare disorders. http://www.cafamily.org.uk/Direct/l39.html

printer friendly LOWE SYNDROME home how we can help medical information index of conditions ... how you can help Did you find this page helpful? yes no Lowe syndrome: Oculo-Cerebro-Renal syndrome This condition is a rare, inheritable, progressive metabolic disease affecting the eyes, brain and kidneys. The eye is affected by cataracts present from birth; glaucoma nystagmus (rolling of the eyes) and strabismus (squint) are also common. Corneal opacity due to overgrowth of scar tissue can occur in about half the patients, and may cause blindness if it covers the central portion of the cornea. Renal tubular dysfunction, which causes loss of phosphate, acidosis, short stature, and renal rickets, is treatable with phosphate and bicarbonate replacement therapy. Learning ability varies from mild to normal or severe difficulties. Behavioural problems are also common. Seizures affect about half of the children diagnosed with the syndrome. There is no specific treatment available although medications may be helpful for the neurological and behavioural abnormalities. Inheritance patterns X-linked. The gene causing Lowe syndrome has been identified and over 70 different alterations in the gene have been described in patients. The gene encodes an enzyme (phosphatidylinositol 4,5 bisphosphate 5-phosphatase) the function of which can be tested in a small sample of skin that has been cultured in the laboratory. Demonstrating loss of function of the enzyme is the most straightforward and definitive laboratory test for Lowe syndrome.

29. Lowe Syndrome Association Call for Proposal lowe syndrome Association will support research which willlead to a better understanding of the metabolic basis of lowe syndrome, http://ard.huji.ac.il/huard/pageExecuter.jsp?ardNum=246

30. Lowe Syndrome lowe syndrome, also known as oculocerebro-renal syndrome, is a rare inheritedmetabolic disease that affects males. This disorder is characterized by lack http://www.bchealthguide.org/kbase/nord/nord109.htm

var hwPrint=1;var hwDocHWID="nord109";var hwDocTitle="Lowe Syndrome";var hwRank="1";var hwSectionHWID="nord109-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. 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. Resources March of Dimes Birth Defects Foundation

31. Charles Upton Lowe (www.whonamedit.com) Lowe s syndrome Oculocerebrorenal dystrophy syndrome characterised by severe In 2005, mutations in the OCRL1 gene for lowe syndrome were shown (3) to http://www.whonamedit.com/doctor.cfm/2932.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. A recommendation: Hypography is an open community about science and all things related Charles Upton Lowe American paediatrician, born August 24, 1921, Pelham, New York. Associated eponyms: Lowe's syndrome Oculocerebrorenal dystrophy syndrome characterised by severe psychomotor retardation with growth and mental retardation/deterioration, hyperactivity with bizarre choreoathetoid movements, and screaming. Biography: We thank Richard Alan Lewis, M.D., M.S., for submitting the biography of Charles Upton Lowe. Lewis is Professor, Departments of Ophthalmology, Medicine, Pediatrics, and Molecular and Human Genetics Faculty Associate, Huffington Center on Aging. Lewis was directly involved in the mapping and cloning of the gene for Lowe Syndrome. Charles Upton Lowe, M.D.

32. Flora London Marathon - Iain's Lowe Syndrome Trust Donation Page London Marathon is one of the world s greatest charity fund raising events.About 20000 runners will raise a staggering £25 million for their charities in http://www.justgiving.co.uk/iainstemp

Iain's Lowe Syndrome Trust Donation Page Page creator: Iain Stemp Event: Flora London Marathon 2005 Event Date: 17th Apr 2005 The FA Cup Trophy came to Histon About my charity: Lowe Syndrome Trust Charity supports children and families with Lowe Syndrome and initiates and funds medical research So far I have raised: Bookmark this page Tell a friend My personal message: If you would rather not donate online, then feel free to send sponsorship to me, or to Lowe Syndrome Trust (details on www.lowetrust.com). 18 April 05 The crowds were out in force yesterday in London and I was very pleased to manage to keep running and finish the race. Although my time of 3 hr 24 mins 9 seconds was one of the slowest of the 15 or so marathons I've run, this one meant a lot to me. The reasons being that it has been over 8 years since I last ran a marathon seriously and having concentrated mostly on mountain biking I was carrying a few running related injuries (caused by increasing the training) in to the race yesterday. I wasn't totally confident that I would be able to finish, but so glad I did and for reasons and a cause close to my heart. Jamie, my 10 yr old son with LS, was watching the race yesterday on TV and said that he would like to run it one day, how I wish that that could be true, he certainly would enjoy the many bands and drums on the couse. But then again he would stop and dance at each one!

33. Healthfinder® — Lowe Syndrome Association, Inc. - LSA The lowe syndrome Association, Inc. (LSA) fosters communication among familiesof boys with this genetic disease. LSA provides information on the syndrome http://www.healthfinder.gov/orgs/HR2056.htm

Help Advanced Search News Library ... Organizations Lowe Syndrome Association, Inc. - LSA Organization URL(s) info@lowesyndrome.org www.lowesyndrome.org/ Other Contact Information 18919 Voss Road Dallas, TX 75287 612-869-5693 (Voice) 612-866-3222 (FAX) Description The Lowe Syndrome Association, Inc. (LSA) fosters communication among families of boys with this genetic disease. LSA provides information on the syndrome and supports research. It also sponsors conferences every 2 years. Online Resources Questions and Answers about Lowe Syndrome http://www.lowesyndrome.org/Lowe%20Syndrome/FAQ/faqEnglish.html Print Resources LSA publishes a booklet about Lowe Syndrome and the group. A publication list is available. Serial publication: On the Beam (newsletter), three issues per yearnews on research, letters and photographs from parents, and articles by professionals in the field. Related Topics Genetics Lowe's Syndrome Rare Diseases Review Date Wed Sep 1, 2004 About Us Accessibility Freedom of Information Act Privacy ... Office of Disease Prevention and Health Promotion,

34. Hill Health Topics A-Z - Lowe Syndrome lowe syndrome. National Organization for Rare Disorders. Important It is possiblethat the main title of the report lowe syndrome is not the name you http://www.healthwise.net/hillhealth/Content/StdDocument.aspx?DOCHWID=nord109&SE

35. Lowe Syndrome In Australia The AKF will be an initial point of contact for lowe syndrome families, lowe syndrome is caused by a defective gene that results in the deficiency of an http://members.optusnet.com.au/~aalexx/index_files/Page473.htm

Connors Candle Works Alex’s Metal  Art 53 Fairlight St Five Dock 2046 Australian LSA Update AKF  affiliation  Now Kidney Health Australia  (KHA) Peter Brady, Ramesh Babu and Alex Gardiner originally met with the AKF on 18 Sept 2002. The AKF were going through management restructuring, we kept in contact and met again in early June 2003 with Anne Wilson (CEO), Gary Chessel (CFO) and Christine Frew (CMO) of the AKF. Anne, Gary and Christine were very receptive to the idea of affiliation with the ALSA, as the AKF foundation had already been considering the idea of forming affiliations with smaller groups with similar objectives to AKF. The next step is for the AKF board to ratify the ALSA proposal to affiliate the two organizations. The AKF board meets regularly, and we are hoping they will have opportunity to address our proposal in the near future. The benefits of affiliation with the AKF are many: · We will overcome many of the problems associated with the ongoing running of a very small organization including the dealing with government red tape. (eg We will be able to use the AKF Charitable Certification with the Dept of Gaming and Racing) · The AKF can provide assistance with fundraising events · The AKF have offered to host a LSA sub-conference as part of the International Renal Conference next year in Adelaide.

36. Justgiving - Two Castles Run Lowe Syndrome Charity supports children and families with lowe syndrome and initiates and funds The lowe syndrome charity (www.lowetrust.com) will receive your money http://www.justgiving.com/twocastlesrun

Two Castles Run Lowe Syndrome Page creator: andrew thomas Event: two castles run Event Date: 12th Jun 2005 Team Members: Trevor Reidy, Tom Robinson, Jonathan Robinson, Niel About our charity: Lowe Syndrome Trust Charity supports children and families with Lowe Syndrome and initiates and funds medical research Fundraising target: So far we have raised: Fundraising progress Bookmark this page Tell a friend Our personal message: The Two Castles Run is a 10km race from Warwick castle to Kenilworth castle up and down hills. All the team finished in under 60 mins, with the youngest (long haired wanabee rock star Jonathan Robinson) needed St John Ambulance revival for the photo. The lowe charity run team were: Andrew Thomas, Trevor Reidy (www.fatcatcd.co.uk), Jonathan robinson (Generators Now.com) and Tom Robinson who has his own page justgiving.com/tomrobinson - PS donate to this webpage not his! Thanks you for visiting our fundraising page. Please dig deep and sponsor us online. The Lowe Syndrome charity (www.lowetrust.com) will receive your money faster and, if you are a UK taxpayer, an extra 28% in tax will be added to your donation at no cost to you.

37. Justgiving - Two Castles Run - Lowe Syndrome Trust About our charity lowe syndrome Trust Charity supports children and familieswith lowe syndrome and initiates and funds medical research http://www.justgiving.com/tomrobinson

Two Castles Run - Lowe Syndrome Trust Page creator: Thomas Robinson Event: Two Castles Run Event Date: 12th Jun 2005 Team Members: Trevor Reidy, Andrew Thomas, Jonathan Robinson, Niel About our charity: Lowe Syndrome Trust Charity supports children and families with Lowe Syndrome and initiates and funds medical research Fundraising target: So far we have raised: Fundraising progress Bookmark this page Tell a friend Our personal message: I'm unfit, don't like exercise and would prefer not to have to get up early to get to the run on time. So SHOW ME THE MONEY!!! ....and..... I've just humilated myself by putting this picture online. ....and.... Donating through this site is simple, fast and totally secure. It is also the most efficient way to sponsor me: Lowe Syndrome Trust will receive your money faster and, if you are a UK taxpayer, an extra 28% in tax will be added to your gift at no cost to you. So please sponsor me now! Many thanks for your support. Our online sponsors to date: Display Name Date Type Amount Tax Bonus Comment Sarah Donation tony and brenda Donation I am taking it that you completed the course in record time, hope to see you Sunday

38. Lowe Syndrome ThirdAid.com the world s first dedicated online patient to patient medical helpcommunity. http://www.thirdaid.com/conditions/Lowe_Syndrome.htm

39. Lowe-Terry-MacLachlan Syndrome (syn. Of Lowe Syndrome) ThirdAid.com the world s first dedicated online patient to patient medical helpcommunity. http://www.thirdaid.com/conditions/Lowe-Terry-MacLachlan_Syndrome.htm

40. Lowe Syndrome (Specific Eye Conditions Web Site) lowe syndrome Trust, 77 West Heath Road, Hampstead, London NW3 7TH In 1983a handful of parents founded the lowe syndrome Association (LSA). http://www.eyeconditions.org.uk/lowe.htm

SP ecific E ye C ondition S www.eyeconditions.org.uk Lowe Syndrome Trust Lowe Syndrome Trust, 77 West Heath Road, Hampstead, London NW3 7TH Tel: +44 (0)208 458 6791 E-Mail: lthomas@ lowetrust.com Website: www.lowetrust.com 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, contact us. You are but an email message away from linking with other families living with this rare and complicated condition. Return to SPECS Home Page

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