21. OCRL CD972367, 274, CTTTGAA^TCTgTGAAGGAACA, Lowe oculocerebrorenal syndrome,1. CD002182, 285, GGCTGTA^GAGagAGGTTTGCAT, Lowe oculocerebrorenal syndrome,2. http://www.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 Am J Hum Genet 5 - Gal (2001) OCRL Locus-specific database Unpublished data 6 - Lin (1998) Mol Genet Metab ...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

22. Lowe Syndrome Association OlivosGlander IM, Janne PA, Nussbaum RL (1995) The oculocerebrorenal syndromegene 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

23. 12398-cpr HUMMOLGEN DIAGnostics/Clinical Research November, 15 1998 Ataxia Telangiectasiaand 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

24. HUM-MOLGEN Archive: DIAG: 6 Messages This DIAG message contains 6 professional requests 1) Ataxia Telangiectasia andLowe 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

25. Retina International's Scientific Newsletter - Syndrome Loci Lowe oculocerebrorenal syndrome, OCRL, 309000, OCRL1, xl, Xq2526.DXS100- DXS553, Inborn error of inositol phosphate metabolism. http://www.retina-international.org/sci-news/syndrom.htm

Retina International's Scientific Newsletter Disease Database Syndromes Recent update from: 08.02.2001 Disease Gene locus MIM Gene Gene MIM MoI Assignment Linked Marker [cM] Remarks References ADRP and sensorineural deafness ad 9q34-ter D9S121, ASS Extreme variable age of onset First subjective problems in the third decade Slowly progressive Kearns-Sayre syndrome KS mt mitochondrial Lowe Oculocerebrorenal Syndrome OCRL xl Inborn error of inositol phosphate metabolism NARP syndrome ATPase 6 mt mitochondrial Norrie disease ND NDP xl tel- DXS7 (L1.28) -MAOB-NDP- DXS426-cen Affects 1:100000 Severe Mental Retardation, Spasticity, and Tapetoretinal Degeneration ar Parents were at least first cousins Stickler syndrome STL ad MoI = Mode of Inheritance: a: autosomal, ad: autosomal dominant, ar: autosomal recessive, xl: x-linked, mt: mitochondrial References Attree,O., Olivos,I.M., Okabe,I., Bailey,L.C., Nelson,D.L., Lewis,R.A., McInnes,R.R., and Nussbaum,R.L. The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. 1992; Nature. 358: 239-242. Link to PudMed Goto Top Berger,W., Meindl,A., van de Pol,T.J., Cremers,F.P., Ropers,H.H., Doerner,C., Monaco,A., Bergen,A.A.B., Lebo,R., Warburg,M., and et al. Isolation of a candidate gene for Norrie disease by positional cloning. 1992; Nat.Genet. 1: 199-203.

26. OCULOCEREBRORENAL SYNDROME (Search FastHealth.com) OCULOCEREBRORENAL SYNDROME Dictionary FastHealth Email This! oc·u·lo·ce·re·bro·re·nal syndromen 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

27. FastHealth Medical Dictionary O-Onc octopamine, octoploid, octose, octreotide, ocular, ocularist, ocular micrometer,oculi, oculist, oculocerebrorenal syndrome, oculocutaneous, oculoglandular http://www.fasthealth.com/dictionary/index_o-onc.php

Dictionary FastHealth Email This! O-Onc Onc-Ori Ori-Ove ... Ove-Oz O to Oncologist O o- oat-cell cancer oat-cell carcinoma ... Z Published under license with Merriam-Webster, Incorporated. © 1997-2000. FastNurse Drug Search Hospital Search Find a Physician ... Dead Links

28. Vesicle Trafficking oculocerebrorenal syndrome. http://www-users.med.cornell.edu/~taryan/wwweb-docs/vesicle.htm

Vesicle trafficking is a common locus of the origin or manifestation of many human pathologies. Although nerve terminals obviously rely heavily on the careful orchestration of vesicle trafficking steps to sustain and modulate neurotransmission, all cells must have correct targetting and delivery of specific proteins to the cell surface or internal organelles. The following is a list of either known or suspected diseases of vesicular traffic. Click on the disease to see the link (or potential link) to vesicle trafficking. Vesicle Trafficking Diseases Mad Cow Disease Atherosclerosis Type II Diabetes Alzheimer's Disease ... Oculocerebrorenal Syndrome

29. Health Library - Lowe Syndrome LS; OCRL; Oculocerebrorenal Dystrophy; oculocerebrorenal syndrome; RenalOculocerebrodystrophy.Disorder Subdivisions. None. General Discussion. http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

30. Lowe Sendromlu Bir Olgunun Davranis Fenotipine Yaklasim; Background. The Lowe syndrome or oculocerebrorenal syndrome is a rare X linkedrecessive hereditary diseases which involves ocular defects, nervous system http://www.ctf.istanbul.edu.tr/dergi/online/1998v29/s1/981o1.htm

31. Pap9814.html oculocerebrorenal syndrome of Lowe Variation in phenotype. Isabelle M. Russell-Eggitt,FRCOphth, William G. van't Hoff, MD, David SI Taylor, FRCP FRCOphth. http://med-aapos.bu.edu/AAPOS1999/post9957.html

Oculocerebrorenal syndrome of Lowe - Variation in phenotype Isabelle M. Russell-Eggitt, FRCOphth, William G. van't Hoff, MD, David S.I. Taylor, FRCP FRCOphth Great Ormond Street Hospital for Children NES Trust, London, UK Introduction: Oculocerebrorenal syndrome of Lowe is a rare metabolic disorder first described in 1952. The defective gene is on the X chromosome. Children with Lowe syndrome commonly present to an ophthalmologist since all affected males have congenital cataracts and many develop glaucoma in childhood. However the diagnosis may not be made for several years. This is in part due to lack of awareness of the spectrum of presentation. Methods: We have reviewed the notes of 10 males with Lowe syndrome. We have details of the mutation in the gene OCRLI in 5 of these cases so far. Results: Age at diagnosis of the 6 patients born in the last 10 years varied from 4 weeks to 3 years I month (mean 13 months). One case born in 1963 was not diagnosed until he was 7 years old. Factors identified as contributing to a delay in diagnosis included: lack of opacities in maternal lenses, persistent hyaloid vessel (which was thought to make a metabolic disorder unlikely), presence of other possible causes for the hypotonia (such as perinatal asphyxia or maternal toxoplasmosis), lack of characteristic facies in infancy, arninoaciduria being absent on spot testing initially and early developmental milestones being considered to be 'too good for Lowe'.

32. Associazione Italiana Sindrome Di Lowe Roschinger W, Muntau AC, Rudolph G, Roscher AA, Kammerer S. Carrier assessment infamilies with lowe oculocerebrorenal syndrome novel mutations in the OCRL1 http://aislo.negrisud.it/referenze.html

REFERENZE MEDICO-SCIENTIFICHE Peverall J, Edkins E, Goldblatt J, Murch A. Identification of a novel deletion of the entire OCRL1 gene detected by FISH analysis in a family with Lowe syndrome. Clin Genet. 2000 Dec;58(6):479-82. Gropman A, Levin S, Yao L, Lin T, Suchy S, Sabnis S, Hadley D, Nussbaum R. Unusual renal features of Lowe syndrome in a mildly affected boy. Am J Med Genet. 2000 Dec 18;95(5):461-6. Monnier N, Satre V, Lerouge E, Berthoin F, Lunardi J. OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling. Hum Mutat. 2000;16(2):157-65. Roschinger W, Muntau AC, Rudolph G, Roscher AA, Kammerer S. Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination. Mol Genet Metab. 2000 Mar;69(3):213-22. Dressman MA, Olivos-Glander IM, Nussbaum RL, Suchy SF. Ocrl1, a PtdIns(4,5)P(2) 5-phosphatase, is localized to the trans-Golgi network of fibroblasts and epithelial cells. J Histochem Cytochem. 2000 Feb;48(2):179-90. Harrison M, Odell EW, Sheehy EC. Dental findings in Lowe syndrome. Pediatr Dent. 1999 Nov-Dec;21(7):425-8. Review.

33. Mental Retardation oculocerebrorenal syndrome Search PUBMED for oculocerebrorenal syndromeAll Review Therapy Diagnosis. Phenylketonuria 1 more specific http://www.ohsu.edu/cliniweb/C10/C10.496.html

Mental Retardation Back to previous level Angelman Syndrome Search PUBMED for Angelman Syndrome: All Review Therapy Diagnosis ... Angelman Syndrome: U. of Reading Cockayne Syndrome Search PUBMED for Cockayne Syndrome: All Review Therapy Diagnosis ... Cockayne syndrome: Med. Coll. of Wisconsin Cri-du-Chat Syndrome Search PUBMED for Cri-du-Chat Syndrome: All Review Therapy Diagnosis ... Cri-du-Chat Syndrome: OMIM De Lange's Syndrome Search PUBMED for De Lange's Syndrome: All Review Therapy Diagnosis Down Syndrome Search PUBMED for Down Syndrome: All Review Therapy Diagnosis ... Wormian bones: Med. Coll. of Wisconsin Fragile X Syndrome Search PUBMED for Fragile X Syndrome: All Review Therapy Diagnosis ... Gangliosidoses [3 more specific term/s, 3 more link/s] Search PUBMED for Gangliosidoses: All Review Therapy Diagnosis Gaucher's Disease Search PUBMED for Gaucher's Disease: All Review Therapy Diagnosis ... Gaucher's Disease: U. of Pittsburgh Med. Ctr. Hallervorden-Spatz Syndrome Search PUBMED for Hallervorden-Spatz Syndrome: All Review Therapy Diagnosis ... Hallervorden-Spatz disease: Med. Coll. of Wisconsin Hartnup Disease Search PUBMED for Hartnup Disease: All Review Therapy Diagnosis Homocystinuria Search PUBMED for Homocystinuria: All Review Therapy Diagnosis ... Arachnodactyly: Med. Coll. of Wisconsin

34. Sex Chromosome Abnormalities oculocerebrorenal syndrome Search PUBMED for oculocerebrorenal syndromeAll Review Therapy Diagnosis. Orofaciodigital Syndromes http://www.ohsu.edu/cliniweb/C16/C16.131.280.748.html

Sex Chromosome Abnormalities Back to previous level Ectodermal Dysplasia [1 more specific term/s, 1 more link/s] Search PUBMED for Ectodermal Dysplasia: All Review Therapy Diagnosis ... ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 2; EEC2 Fragile X Syndrome Search PUBMED for Fragile X Syndrome: All Review Therapy Diagnosis ... Southern Blot Analysis of Fragile X Syndrome: Virtual Hospital, U. of Iowa Gonadal Dysgenesis, 46,XY Search PUBMED for Gonadal Dysgenesis, 46,XY: All Review Therapy Diagnosis Gonadal Dysgenesis, Mixed Search PUBMED for Gonadal Dysgenesis, Mixed: All Review Therapy Diagnosis Kallmann Syndrome Search PUBMED for Kallmann Syndrome: All Review Therapy Diagnosis ... KALLMANN SYNDROME 1; KAL1 Klinefelter's Syndrome Search PUBMED for Klinefelter's Syndrome: All Review Therapy Diagnosis Oculocerebrorenal Syndrome Search PUBMED for Oculocerebrorenal Syndrome: All Review Therapy Diagnosis Orofaciodigital Syndromes Search PUBMED for Orofaciodigital Syndromes: All Review Therapy Diagnosis ... OROFACIODIGITAL SYNDROME 1; OFD1 Turner's Syndrome Search PUBMED for Turner's Syndrome: All Review Therapy Diagnosis ... Cystic hygroma with monosomy X, or Turner's syndrome, microscopic: U. of Utah Webpath

35. THE LIGHTNING HYPERTEXT OF DISEASE. Packet No. 1 14934 SYNONYMS Lowe syndrome Lowe Bickel syndrome Lowe Terrey MacLachlansyndrome oculocerebrorenal syndrome Renaloculocerebrodystrophy key words http://www.pathinfo.com/cgi-bin/lh.cgi?tx=terrey

36. GM98: Chr.X anchor marker AFM150xf10. Also on G3 map, click for details, 306.65,P1.14, stSG1667, LOWE'S oculocerebrorenal syndrome .. Also on G3 http://www.ncbi.nlm.nih.gov/genemap98/map.cgi?BIN=617&MAP=GB4

37. Viewbook- Robert Nussbaum Lowe oculocerebrorenal syndrome (OCRL) The laboratory isolated the gene responsiblefor Lowe syndrome, a rare disorder, by positional cloning and demonstrated http://gpp.nih.gov/researchers/viewbook/Nussbaum_Robert.html

Robert Nussbaum M.D., Harvard Medical School, 1975 National Institutes of Health 49 Convent Drive Building 49 / Room 4A72 Bethesda, Maryland 20892-4472 Phone Number: 301-402-2039 Fax Number: 301-402-2170 Email Address: rlnuss@nhgri.nih.gov Web Site: www.nhgri.nih.gov/Intramural_research/People/nussbaum.html Research Interest(s): Digestive / Kidney Diseases Genetics and Human Genome Research Description: Genetic Approaches to Human Disease Dr. Nussbaum's laboratory works on determining the pathogenesis of various human genetic diseases. Lowe oculocerebrorenal syndrome (OCRL) The laboratory isolated the gene responsible for Lowe syndrome, a rare disorder, by positional cloning and demonstrated that the gene encoded an enzyme, a phosphatidylinositol 4,5 bisphosphate 5-phosphatase, that was deficient in fibroblasts from OCRL patients. The laboratory has shown the enzyme is located primarily in the Golgi complex, particularly the trans-Golgi network. Now we need to understand why a defect in this enzyme leads to the clinical signs seen in the syndrome. The work relies heavily on cell biological and mouse genetics approaches, including transgenic and "knock-out" methods.

38. 166.111.30.65/AsMamDB/Hs/Fasta/AsHs878.fasta.txt AsHs878 mRNA1 gnl UG Hs S417617 Human fetal brain oculocerebrorenal syndrome (OCRL1)mRNA, complete cds /cds=(177,2882) /gb=U57627 /gi=1420919 /ug=Hs.278276 http://166.111.30.65/AsMamDB/Hs/Fasta/AsHs878.fasta.txt

39. Untitled seq1 AsHs878 mRNA1 gnl UG Hs S417617 Human fetal brain oculocerebrorenal syndrome(OCRL1) mRNA, complete cds /cds=(177,2882) /gb=U57627 /gi=1420919 /ug=Hs http://166.111.30.65/AsMamDB/Hs/Align/AsHs878.aln.html

Topological Structure Topological Structure

40. Keeping Current In Nephrology Hyperoxaluria Cystinosis Diabetes Insipidus Fanconi Syndrome Renal glycosuria Familiarhypophatemia oculocerebrorenal syndrome Pseudohypoaldosteronism Renal http://www.nephron.com/news/

Home Links Professional Resources Physicians ... Translate KEEPING CURRENT IN NEPHROLOGY HOME NEWS PRESENTATIONS LINKS ... MSH ISSUES IN NEPHROLOGY acidosis and alkalosis adequacy of dialysis anemia mangement blood pressure control calcium phosphorus issues cardiac disease and risk chronic kidney disease diabetic nephropathy drug interactions electrolyte emergencies history of nephrology inflammation and kidney disease nutrition issues patient partnering patient satisfaction peritoneal dialysis quality improvement renal root cause analysis database regulatory and risk management transplantation vascular access DISEASES Syndromes and General Reviews Acute Kidney Failure Albuminuria Chronic Kidney Disease Cystic Kidneys Fanconi Syndrome Glomerulopathies Hematuria Hemolytic-Uremic syndrome Hepatorenal Syndrome Hydronephrosis Hypertension Kidney Neoplasms Kidney Stones Nephritis Papillary Necrosis Prostate disorders Proteinuria Pyelonephritis

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