OCRL oculocerebrorenal syndrome of Lowe. Gene symbol OCRL. Phenotype, Nucleotide substitutions,Microlesions, Gross lesions. Lowe oculocerebrorenal syndrome, 42, 25, 6. http://archive.uwcm.ac.uk/uwcm/mg/search/119461.html
Extractions: Mutations in this gene were first reported in 1993 Leahey (1993) Hum Mol Genet Number of entries by mutation type Click on the respective mutation type to view detailed information about the mutations as logged in HGMD. Mutation type Total number of mutations Nucleotide substitutions (missense / nonsense) Nucleotide substitutions (splicing) Nucleotide substitutions (regulatory) Small deletions Small insertions Small indels Gross deletions Complex rearrangements (including inversions) Repeat variations TOTAL Number of entries by phenotype Phenotype Nucleotide substitutions Micro-lesions Gross lesions Lowe oculocerebrorenal syndrome Clicking on the respective phenotype will start a search for that item at the OMIM web site. As HGMD only records the first literature report of a mutation, the possibility that reported mutations may be responsible for more than one disease state cannot be ruled out. Associated data - Mutation map cDNA sequence HGMD options - HGMD search HGMD help HGMD home External sites - OMIM entry for OCRL GDB entry for OCRL GenAtlas entry for OCRL Nomenclature entry for OCRL ... Lowe syndrome mutation database HGMD
Alphabetical Topic Index (AZ) Jump To A B C D E F G H I J K L M Ochronosis Ocular Hypotension Ocular Hypotension Ocular Motility Disorders OcularMotility Disorders oculocerebrorenal syndrome oculocerebrorenal syndrome http://www.uscuh.com/apps/Intermap/topiclist/SectionO.html
Extractions: hypotrichosis table Home Forums Privacy Advertising ... Home On this page... Introduction The tables below records disorders known to involve hypotrichosis. The first table lists disorders where hypotrichosis is a primary symptom. The second table lists disorders where hypotrichosis can be one of several symptoms. Typically the other symptoms are of greater concern and health or life threatening. Many of these conditions involving hypotrichosis as a secondary symptom are ectodermal dysplasias. The clinical distinction between alopecia and hypotrichosis is that alopecia involves hair growth that is later lost. Hypotrichosis is a lack of any hair growth. The distinction between alopecia and hypotrichosis is not clear cut for many disorders. Some dermatologists will disagree with my listing. You may find some disorders in both the alopecia and hypotrichosis listings. This is not necessarily a complete list of disorders involving hypotrichosis. Links to relevant web pages on the Online Mendelian Inheritance in Man (OMIM) web database are also given where possible.
Lowes Syndrom - Små Och Mindre Kända Handikappgrupper Litteratur. Chamas LR, Gahl WA. The oculocerebrorenal syndrome of Lowe. CharnasLR, Nussbaum R. The oculocerebrorenal syndrome of Lowe (Lowe Syndrome). http://www.sos.se/smkh/2000-29-123/2000-29-123.htm
Extractions: HTML-version 1.1 Socialstyrelsen Detta är ett utdrag ur Socialstyrelsens kunskapsdatabas om små och mindre kända handikappgrupper. Med små och mindre kända handikappgrupper avses ovanliga sjukdomar/skador som leder till omfattande funktionshinder och som finns hos högst 100 personer per miljon invånare. Syftet med databasen är att ge aktuell information om små och mindre kända handikappgrupper och om det stöd och den service som dessa grupper behöver. För ytterligare information om aktuell diagnos hänvisas till informationsmaterial, litteratur och databaser som anges under resp diagnos. Orsak till sjukdomen/skadan Symtom Epilepsin behandlas med anti-epileptisk medicin. Resurspersoner info@lowesyndrome.org
Willkommen Bei Medianovo Translate this page Anzeigen, Okulozerebrorenales Syndrom, oculocerebrorenal syndrome,1. Anzeigen, Okulozerebrorenales Syndrom, oculocerebrorenal syndrome,1. http://www.medianovo.com/media_66/suche_mesh_Al.asp?sel=O
UK Lowe Syndrome Trust The research is entitled Synthetic receptors for inositol phosphates a noveldiagnostic tool for the oculocerebrorenal syndrome of Lowe by Dr Ramon Vilar http://www.lowetrust.com/research_grants.shtml
Extractions: registered charity no 1081241 Home Donations Research Grants About the LST ... Contact The Lowe Syndrome Trust (LST) is very excited about two grants awarded in the UK in 2002. In December a major award of £50,000 over 3 years was made to the Department of Chemistry, Imperial College London to support a Phd studentship to research a chemical test for the OCRL enzyme. The research is entitled "Synthetic receptors for inositol phosphates: a novel diagnostic tool for the oculocerebrorenal syndrome of Lowe" by Dr Ramon Vilar-Compte and Dr Rudiger Woscholski. In June 2002 a grant of £9000 was made to support a Kidney Research Project at Gt Ormond Street Hospital/ICH London, headed by Dr Van't Hoff, Robert Unwin and Guido Laube, to whom Lowe Syndrome patients have donated urine samples so that OCRL kidney cells can be cultured and also made available for other research projects. The research is entitled An investigation of intracellular metabolism in renal proximal tubular cells from patients with LOWE-Syndrome. LSA awards $60,000 for two research grants.
UK Lowe Syndrome Trust biphosphate, 5 phosphatase. Lowe's oculocerebrorenal syndrome is adisorder affecting the brain, eye and kidney. Research funds are http://www.lowetrust.com/research_uk.shtml
Extractions: registered charity no 1081241 Home Donations Research Grants About the LST ... Contact You are invited to apply for research funding from the Lowe Syndrome Trust. Research applications will be also be referred to the local Lowe Syndrome funding sources. USA and North American applications may also be made the Lowe Syndrome Association USA. Lowe Syndrome is caused by a defective gene that results in the deficiency of an enzyme OCRL1 Phosphatidylinositol 4,5-biphosphate, 5 phosphatase. Lowe's oculocerebrorenal syndrome is a disorder affecting the brain, eye and kidney. Research funds are available (£50,000 in the first instance) for funding a research studentship or assistant to (i) establish a data bank of Lowe Syndrome patients worldwide or (ii) to investigate how the enzyme deficiency leads to malfunction in these specific organs. The closing date for applications is 2nd May 2003 Please Email the details of the proposed research proposal using the word.doc form below. For further information please contact Lorraine Thomas
Renal Disease Preoperative Care Oxidase deficiency; oculocerebrorenal syndrome of Lowe. Acquired formMultiple Myeloma; Nephrotic Syndrome; Chronic tubulointerstitial http://www.fpnotebook.com/REN127.htm
Extractions: Home About Links Index ... Editor's Choice Paid Advertisement (click above). Please see the privacy statement Nephrology Surgery Failure Renal Disease Preoperative Care Renal Disease Preoperative Care Preoperative Evaluation in Kidney Disease Book Home Page Cardiovascular Medicine Dental Dermatology Emergency Medicine Endocrinology Gastroenterology General Medicine Geriatric Medicine Gynecology Hematology and Oncology HIV Infectious Disease Jokes Laboratory Neonatology Nephrology Neurology Obstetrics Ophthalmology Orthopedics Otolaryngology Pediatrics Pharmacology Prevention Psychiatry Pulmonology Radiology Rheumatology Sports Medicine Surgery Urology Chapter Nephrology Index Acid and Base Disorders Calcium Chloride Cardiovascular Medicine Dermatology Edema Endocrinology Examination Failure Glomerulus Laboratory General Pulmonology Magnesium Neurology Pharmacology Phosphorus Potassium Radiology Sodium Surgery Tubule Page Surgery Index Failure Diagnostics (Preooperative) Chemistry panel (repeat within 3 hours of surgery) Complete Blood Count Other tests to consider Arterial Blood Gas Bleeding Time (if suspect uremic bleeding risk) Special concerns in renal falure Hyperkalemia Serum Potassium Consider avoiding general anesthesia Consider Hyperkalemia Management Metabolic Acidosis Reduces Local Anesthesia effect Bleeding risk Decrease Uremia (dialysis on day prior to surgery) Correct Bleeding Time s over 10 minutes Avoid surgery within 12 hours of Heparin ized dialysis Avoid antiplatelet agents within 72 hours of surgery Aspirin Dipyridamole Persantine Avoid other agents with increased bleeding risk
MEDLINEplus Medical Encyclopedia: Fanconis Syndrome Lowe's disease (oculocerebrorenal syndrome), a rare genetic disorder ofthe eyes, brain, and kidneys, can also cause Fanconi's syndrome. http://www.nlm.nih.gov/medlineplus/ency/article/000333.htm
Extractions: Skip navigation Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Contents of this page: Kidney anatomy Alternative names Return to top De Toni-Fanconi syndrome Definition Return to top Fanconi's syndrome is an impairment in proximal tubular function of the kidney. This impairment causes certain compounds, which should be absorbed back into the bloodstream by the kidneys, to be excreted in the urine instead. Some compounds that may be lost in the urine include glucose, amino acids, uric acid, and phosphate. Loss of these compounds can cause problems, such as growth failure, decreased bone mineralization (rickets), and abnormal bone mineralization (osteomalacia). Type two renal tubular acidosis (RTA) occurs when too much bicarbonate is excreted in the urine, causing excess acid in the blood (acidosis). Another problem that may result is dehydration caused by excess urination. Causes, incidence, and risk factors
Extractions: A congenital syndrome in which aniridia (congenital absence of the iris) and nephroblastoma (Wilms' tumour) is associated with mental retardation, craniofacial defects (microcephaly), growth retardation and skeletal anomalies, deformed pinna, genitourinary anomalies, hamartomas, and umbilical and inguinal hernias. Other frequent features include cataract and glycoma, hypospadias, hemihypertrophy, and horseshoe kidney. The syndrome affects both sexes but is more frequent in males.
Slide SubGrids Gene id NM_002592 name Homo sapiens proliferating cell nuclear antigen (PCNA)mRNA, Gene id T63686 name oculocerebrorenal syndrome (lowe syndrome), Gene id http://www3.mdanderson.org/depts/cancergenomics/Designs/CG4_1_B_3_2_3.html
BLASTX+BEAUTY Search Results 789 to_Entrez to_Related to_Related gi 4160528 gnl PID e1371023 (AL022162) dJ454M7.1.1(Lowe oculocerebrorenal syndrome protein OCRL1) (isoform 1) Homo http://medsfgh.ucsf.edu/id/CpDemoProj/BlastxResults/Plate003/500003A12.x2.beauty
Extractions: Content-type: text/html BLAST search performed using the National Center for Biotechnology Information's BLAST WWW Server BEAUTY post-processing provided by the Human Genome Center, Baylor College of Medicine BEAUTY Reference: Kim C. Worley, Brent A. Wiese, and Randall F. Smith (1995). BEAUTY an enhanced BLAST-based search tool that integrates multiple biological information resources into sequence similarity search results. Genome Research RepeatMasker repeats found in sequence: No Repeats Found. BLASTX 1.4.11 [24-Nov-97] [Build 24-Nov-97] Reference: Gish, Warren and David J. States (1993). Identification of protein coding regions by database similarity search. Nat. Genet. 3:266-72. Altschul, Stephen F., Warren Gish, Webb Miller, Eugene W. Myers, and David J. Lipman (1990). Basic local alignment search tool. J. Mol. Biol. 215:403-10. Notice: statistical significance is estimated under the assumption that the equivalent of one entire reading frame in the query sequence codes for protein and that significant alignments will involve only coding reading frames. Query= 500003A12.x2 (692 letters) Translating both strands of query sequence in all 6 reading frames
WebMD - Hypopigmentation nord Oculocerebrocutaneous Syndrome nord Oculocerebrorenal Dystrophynord oculocerebrorenal syndrome nord Oculocraniosomatic Syndrome http://my.webmd.com/content/healthwise/84/20816.htm
ORPHANET® : Lowe Syndrome ORPHANET. ORPHANET database access. Lowe syndrome. Direct accessto details Alias Lowe oculocerebrorenal syndrome. Home Page. http://www.orpha.net/static/GB/lowe.html
GASNet Anesthesiology: Contents H - L Londe. Fazio Londe Syndrome. Lowe. Lowe Syndrome (oculocerebrorenal syndrome).Lupus. System Lupus Erythematous. Lyell. Lyell Disease (Toxic Epidermal Necrolysis). http://gasnet.med.yale.edu/pediatric-syndromes/h2l_br.php
Extractions: Contents H - L - pediatric syndromes - Hallerman Hallerman - Streiff Syndrome Hallervorden Hallervorden - Spatz Disease Hand Holt - Oram Syndrome (Heart - Hand Syndrome) Hand Hand - Schuller - Christian Disease (Histiocytosis X) Harlequin Ichtyosiform Erythrodermia (Harlequin fetus) Heart Holt - Oram Syndrome (Heart - Hand Syndrome) Hemochromatosis Hemochromatosis Hemolytic Uremic Syndrome Hemolytic Uremic Syndrome Henoch Henoch - Schönlein Purpura Hereditary Hereditary Angioneurotic Edema Hers Hers Disease (Type VI Glycogen Storage Disease) Higashi Chediak - Higashi Syndrome Hippel Von Hippel - Lindau Syndrome Histiocytosis Hand - Schuller - Christian Disease (Histiocytosis X) Histiocytosis Letterer - Siwe Disease (Acute Disseminated Histiocytosis) Hoffman Werdnig - Hoffman Disease Holt Holt - Oram Syndrome (Heart - Hand Syndrome) Holoprosencephaly Holoprosencephaly Homocystinuria Homocystinuria Hunter Hunter's Syndrome (Mucopolysaccharidosis Type II) Hurler Hurler Syndrome (Mucopolysaccharidosis Type I) Hutchinson Progeria (Hutchinson - Gilford Syndrome) Hypothyroidism Cretinism (Congenital Hypothyroidism) Ichtyosiform Ichtyosiform Erythrodermia (Harlequin fetus) Ivemark Ivemark Syndrome Jampel Schwartz - Jampel Syndrome Jervell Jervell and Lange - Nielsen Syndrome Jeune Jeune's Syndrome (Asphyxiating Thoracic Dystrophy) Johnson Erythema Multiforme Major (Stevens - Johnson Syndrome) Kartagener Kartagener's Syndrome (Immotile Cilia Syndrome) Kasabach Kasabach - Merritt Syndrome Kawasaki Kawasaki's Disease Ketonuria Maple Syrup Urine Disease (Branched Chain Ketonuria) King
UNSW Embryology-OMIM Glaucoma List DEFECT AND SENSORINEURAL HEARING LOSS *603221 MYOPIA 3; MYP3 106220 ANIRIDIA ANDABSENT PATELLA *309000 LOWE oculocerebrorenal syndrome; OCRL *123580 CRYSTALLIN http://anatomy.med.unsw.edu.au/cbl/embryo/OMIMfind/nerve/glaucomalist.htm
UNSW Embryology-OMIM Muscular Dystrophy List TYPE 1; MRX1 *275630 TRIGLYCERIDE STORAGE DISEASE WITH IMPAIRED LONGCHAIN FATTYACID OXIDATION *309000 LOWE oculocerebrorenal syndrome; OCRL *600308 AQUAPORIN http://anatomy.med.unsw.edu.au/cbl/embryo/OMIMfind/skmus/OMIM-dystophy_list.htm
Extractions: MUSCULOSKELETAL DEVELOPMENT Embryology Home Page Select Entries from OMIM Online Mendelian Inheritance in Man (Internet Link) This page is for computers without external internet access. Internet access computers can see the full description of the abnormality from the links below. Back to UNSW Embryology-Musculoskeletal Notes 186 entries found, searching for " muscular dystrophy MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKER TYPES
