21. OCULOCEREBRORENAL SYNDROME (Search FastHealth.com) OCULOCEREBRORENAL SYNDROME Dictionary FastHealth Email This! oc·u·lo·ce·re·bro·re·nal syndrome n a rare human developmental disorder that is inherited http://www.fasthealth.com/dictionary/o/oculocerebrorenal_syndrome.php

Dictionary FastHealth Email This! n Lowe syndrome FastNurse Drug Search Hospital Search ... Dead Links

22. OCRL CM971085, 278, aCAATAA, Gln-Term, Lowe oculocerebrorenal syndrome, 1. CM011445, 280, TGG-TAG, Trp-Term, Lowe oculocerebrorenal syndrome, 2. http://archive.uwcm.ac.uk/uwcm/mg/ns/1/119461.html

OCRL Nucleotide substitutions (missense / nonsense) Accession Number Codon Nucleotide Amino acid Phenotype Reference aCAA-TAA Gln-Term Lowe oculocerebrorenal syndrome TGG-TAG Trp-Term Lowe oculocerebrorenal syndrome CGA-CCA Arg-Pro Lowe oculocerebrorenal syndrome tCGA-TGA Arg-Term Lowe oculocerebrorenal syndrome GGG-GAG Gly-Glu Lowe oculocerebrorenal syndrome GTC-GGC Val-Gly Lowe oculocerebrorenal syndrome cCAT-TAT His-Tyr Lowe oculocerebrorenal syndrome tCAA-TAA Gln-Term Lowe oculocerebrorenal syndrome gCAG-TAG Gln-Term Lowe oculocerebrorenal syndrome GGA-GAA Gly-Glu Lowe oculocerebrorenal syndrome gAAT-GAT Asn-Asp Lowe oculocerebrorenal syndrome GAC-GGC Asp-Gly Lowe oculocerebrorenal syndrome TTT-TCT Phe-Ser Lowe oculocerebrorenal syndrome TGG-TAG Trp-Term Lowe oculocerebrorenal syndrome TGT-TAT Cys-Tyr Lowe oculocerebrorenal syndrome CGA-CAA Arg-Gln Lowe oculocerebrorenal syndrome cCGA-GGA Arg-Gly Lowe oculocerebrorenal syndrome cCGA-TGA Arg-Term Lowe oculocerebrorenal syndrome GTT-GAT Val-Asp Lowe oculocerebrorenal syndrome TAT-TGT Tyr-Cys Lowe oculocerebrorenal syndrome AGCg-AGG Ser-Arg Lowe oculocerebrorenal syndrome CAC-CGC His-Arg Lowe oculocerebrorenal syndrome CACa-CAG His-Gln Lowe oculocerebrorenal syndrome CCT-CTT Pro-Leu Lowe oculocerebrorenal syndrome ATT-AGT Ile-Ser Lowe oculocerebrorenal syndrome tGAA-TAA Glu-Term Lowe oculocerebrorenal syndrome TACt-TAG Tyr-Term Lowe oculocerebrorenal syndrome tCGA-TGA Arg-Term Lowe oculocerebrorenal syndrome cCGA-TGA Arg-Term Lowe oculocerebrorenal syndrome

23. OCRL CD972367, 274, CTTTGAA^TCTgTGAAGGAACA, Lowe oculocerebrorenal syndrome, 1. CD002182, 285, GGCTGTA^GAGagAGGTTTGCAT, Lowe oculocerebrorenal syndrome, 2. http://archive.uwcm.ac.uk/uwcm/mg/ns/4/119461.html

OCRL Small deletions Accession Number Location/ codon Deletion Phenotype Reference CTTTGAA^TCTgTGAAGGAACA Lowe oculocerebrorenal syndrome GGCTGTA^GAGagAGGTTTGCAT Lowe oculocerebrorenal syndrome ATTTCAC^AACaccACCTTTTGCA Lowe oculocerebrorenal syndrome AATAAG^AAAGaCCTTCAGAGA Lowe oculocerebrorenal syndrome CCCCACT^TATaagtatGACTCTAAAA Lowe oculocerebrorenal syndrome TGGAGA^GGAAcAAATGTTAAT Lowe oculocerebrorenal syndrome GAGAGGA^ACAaATGTTAATCA Lowe oculocerebrorenal syndrome AAATGAC^TTCcttcCTTCCTTAGA Lowe oculocerebrorenal syndrome AATGTG^AAGTtTCGGCAACTA Lowe oculocerebrorenal syndrome ACTACAA^AAGgagAAGTTCCAGA Lowe oculocerebrorenal syndrome AGCAAC^AATGgACAGGTTCCC Lowe oculocerebrorenal syndrome ACTTAAT^GACagccagtactgcaAGCCATGGCT Lowe oculocerebrorenal syndrome AGCAAA^GACTctGTAACCATCC Lowe oculocerebrorenal syndrome CAAAGAC^TCTgtAACCATCCTG Lowe oculocerebrorenal syndrome GCCGT^ATGAAaAGACCAATCC Lowe oculocerebrorenal syndrome AG_I19E20_GAG^GACCTgTTCCAGACCC Lowe oculocerebrorenal syndrome CAACCAC^TCTgtGGCTGAAGCA Lowe oculocerebrorenal syndrome TTAAAAACAG_I21E22_gtgatctcccag^CTTCCGAGAT Lowe oculocerebrorenal syndrome TCCACCC^AACcTTATGGCAAG Lowe oculocerebrorenal syndrome References 1 - Lin (1997) Am J Hum Genet 2 - Monnier (2000) Hum Mutat ... Am J Hum Genet 5 - Gal (2001) OCRL Locus-specific database Unpublished data 6 - Lin (1998) Mol Genet Metab ... Hum Mol Genet HGMD

24. Lowe Syndrome Association OlivosGlander IM, Janne PA, Nussbaum RL (1995) The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex. http://www.lowesyndrome.org/otb/otb1996v15n1-EnzymeDiscovery.html

Home Page On The Beam 1996 v.15:1 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 On The Beam Researchers discover Lowe syndrome gene causes enzyme deficiency Diagnostic test available soon In a stunning year-end announcement, researchers reported that they have discovered the basic metabolic defect in Lowe syndrome. In a paper published in the December 1995 issue of Human Molecular Genetics , Robert L. Nussbaum, M.D., and his colleagues at the National Institutes of Health in Bethesda, Maryland, reported their discovery that the defective Lowe syndrome gene causes the deficiency of an enzyme that is essential to inositol metabolism. The team's research indicated that cell lines from fibroblasts (skin samples) of individuals with Lowe syndrome are missing an enzyme called phosphatidylinositol 4,5-biphosphate 5 phosphatase. This enzyme removes one molecule of phosphate from a phospholipid called phosphatidylinositol 4,5-biphosphate (or PtdIns[4,5]P

25. The Lowe S Oculocerebrorenal Syndrome Gene Encodes A Protein 358239a0 The Lowe s oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate5-phosphatase. Olivier http://www.nature.com/cgi-taf/DynaPage.taf?file=/nature/journal/v358/n6383/abs/3

26. Entrez PubMed Abstract, Cataracts and glaucoma in patients with oculocerebrorenal syndrome. No abstract, oculocerebrorenal syndrome of Lowe Ryoikibetsu Shokogun Shirizu. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?dispmax=100&db=PubMed&doptcmdl=Doc

27. Entrez PubMed Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstra

28. Www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Oculocerebrorenal+Syndrome MedlinePlus Medical Encyclopedia Fanconi’s syndrome Lowe s disease (oculocerebrorenal syndrome), a rare genetic disorder of the eyes, brain, and kidneys, can also cause Fanconi s syndrome. http://www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Oculocerebrorenal Syndrome

29. Lowe Oculocerebrorenal Syndrome Lowe oculocerebrorenal syndrome. This disease is described in an article in GeneReviews. Copyright © 2002 SimulConsult ® Inc. http://simulconsult.com/resources/c0028860.html

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

30. ORPHANET - Rare Diseases - Orphan Drugs Order the Orphanet book, Printing version, DISEASE Lowe syndrome, Synonym(s) Lowe oculocerebrorenal syndrome, ICD E72.0, No description is available, MIM 309000, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=534

31. ORPHANET - Maladies Rares - Médicaments Orphelins oculocerebrorenal syndrome) situé en Xq26.1 et de nombreuses mutations ont été identifiées. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=534

32. Lowe Syndrome Pp. 13181325. LOWE oculocerebrorenal syndrome IN A FEMALE WITH A BALANCED X;20 TRANSLOCATION MAPPING OF THE X CHROMOSOME BREAKPOINT. 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.

33. Congenital, Hereditary, And Neonatal Diseases And Abnormalities NailPatella Syndrome - MedStudents (BR). oculocerebrorenal syndrome. The Int l Lowe Syndrome Association, Inc. Aicardi Syndrome (not on MeSH). 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

34. Free Online ICD9/ICD9CM Codes And Medical Dictionary oculocerebrorenal syndrome Cerebrooculorenal Syndrome Lowe Syndrome CerebroOculo-Renal Syndrome Lowe Disease Lowe oculocerebrorenal syndrome Lowe http://icd9.chrisendres.com/index.php?action=dictdtl&recordid=8502

35. Dictionary Definition Of OCULOCEREBRORENAL SYNDROME Displaying dictionary terms starting with letter OC oculocardiac oculocardiac reflex oculocephalic reflex oculocephalogyric reflex oculocerebrorenal oculocerebrorenal syndrome oculocutaneous oculocutaneous http://www.dictionarybarn.com/OCULOCEREBRORENAL-SYNDROME.php

Dictionary definition of OCULOCEREBRORENAL SYNDROME Browse Dictionary by alphabet A B C D ... Z Top Words oca Occam's razor occamy occasional ... occult hydrocephalus Please select first two letters of word you are looking for OA OB OC OD ... OZ fiSearchFormMaxSetId='AX006027'; Top Words occultation occulted occupational deafness occupational dentistry ... Home Sponsored By: Iowa Car Rentals Kansas Car Rentals Kentucky Car Rentals

36. OCULOCEREBRORENAL SYNDROME Definition Home/O/OC/oculocerebrorenal syndrome. Medical Dictionary Search Engine. Advertise on this site! A service of healthlink-net.com. Browse Dictionary Alphabetically. http://www.books.md/O/dic/oculocerebrorenalsyndrome.php

Home O OC /OCULOCEREBRORENAL SYNDROME Medical Dictionary Search Engine Advertise on this site! A service of health-link-net.com Browse Dictionary Alphabetically A B C D ... Home

37. Disease Directory : Genetic Disorders : Lowe Syndrome syndrome,. Print this article, (Charles Upton Lowe, 20th century, American paediatrician), (also called oculocerebrorenal syndrome; http://www.diseasedirectory.net/Genetic_Disorders/Lowe_Syndrome/default.aspx

Wednesday, June 02, 2004 Genetic Disorders Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome ... Genetic Disorders : Lowe Syndrome 98-67 Lowe Syndrome Association Association du syndrome de Lowe - Association du syndrome de Lowe. back My son with Lowe syndrome Thomas is a walking miracle - Hampstead mum, Lorraine Thomas, set up a charity to help find a cure for her son and other little boys with Lowe Syndrome, an incurable genetic disease. Conditions and Diseases - Lowe Syndrome Top Links - Lowe Syndrome Web Site Links. Lowe Syndrome Association - Information about this disease and the international organization that deals with it. eMedicine - Oculocerebrorenal Dystrophy (Lowe Syndrome) : Article ... - Oculocerebrorenal Dystrophy (Lowe Syndrome) - In 1952, Lowe and colleagues described an infant with congenital cataracts and mental retardation. 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. Geometry.Net - Health_Conditions: Lowe Syndrome

38. 12398-cpr HUMMOLGEN DIAGnostics/Clinical Research. November, 15 1998. Ataxia Telangiectasia and. Lowe oculocerebrorenal syndrome. I am seraching http://www.hum-molgen.de/clinical/151198-cpr1.html

HUM-MOLGEN DIAGnostics/Clinical Research November, 15 1998 Ataxia Telangiectasia and Lowe Oculocerebrorenal Syndrome I am seraching for Labs performing molecular diagnosis on Ataxia Telangiectasia and Lowe Oculocerebrorenal Syndrome. This message is especially urgent for AT: the family, with one affected and clinically diagnosed sib, is willing to have another child as soon as possible. Thanks in advance, 08950 Esplugues, Barcelona, Spain E-mail: emonros@HSJDBCN.ORG Tel: +34 93 2532100 ext 2275 Fax: +34 93 2803626

39. HUM-MOLGEN Archive: DIAG: 6 Messages This DIAG message contains 6 professional requests 1) Ataxia Telangiectasia and Lowe oculocerebrorenal syndrome 2) BannayanZonana syndrome/ Cowden s disease 3 http://www.hum-molgen.de/mail-archive/1998-Nov/msg00000.html

home genetic news bioinformatics biotechnology ... register for news alert (free) Carlo Gambacorti MD, National Cancer Institute, Milan - Italy: DIAG: 6 messages archive of HUM-MOLGEN mails Author Prev ][Author Next][ Thread Prev ][Thread Next][ Author Index Topic Index To: HUM-MOLGEN@NIC.SURFNET.NL Subject : DIAG: 6 messages From gambacorti@anprisc.anapat.istitutotumori.mi.it Date : Sun, 15 Nov 1998 09:03:20 +0100 Posted-Date: Sun, 15 Nov 1998 09:03:20 +0100 http://www.informatik.uni-rostock.de/HUM-MOLGEN/ Prev by Author: BIOT: October 1998 Prev by thread: BIOT: October 1998 Index(es): Author Thread home genetic news ... sitemap Mail converted by MHonArc WWW: Kai Garlipp Frank S. Zollmann HUM-MOLGEN

40. MeSH-D Terms Associated To MeSH-C Term Oculocerebrorenal Syndrome MeSHD terms associated to MeSH-C term oculocerebrorenal syndrome, G2D Home. The number indicates the strength of the association http://www.bork.embl-heidelberg.de/g2d/c2d.pl?Oculocerebrorenal_Syndrome:unknown

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