61. Lowe, Syndrome : Sites Et Documents Francophones Translate this page Synonyme(s) MeSH Oculo-cérébro-rénal, syndrome. Arborescence(s) du thesaurus MeSH contenant le mot-clé Lowe, syndrome oculocerebrorenal syndrome http://www.chu-rouen.fr/ssf/pathol/lowesyndrome.html

Lowe, syndrome Menu général CISMeF Synonyme(s) CISMeF oculo-cérébro-rénal, syndrome. Synonyme(s) MeSH Oculo-cérébro-rénal, syndrome Arborescence(s) Lowe, syndrome oculocerebrorenal syndrome maladies et malformations congénitales, héréditaires et néonatales maladies urologiques et appareil génital mâle métabolisme et nutrition, maladies système nerveux, maladies Position du mot-clé dans l' (les) arborescence(s) : Vous pouvez consulter toutes les ressources ou seulement les principales ou utiliser l' outil de recherche les recommandations les documents concernant l' enseignement les documents destinés aux patients Ou consulter ci-dessous une sélection des principales ressources : patient ASL - Association du Syndrome de Lowe [présentation de l'association, informations sur la pathologie, projets, recherche ; pays : France ; ville : Villemomble ; langue : français ; format : html ; accès : gratuit ; non parrainé ; visité le : 09/10/2003]. mots clés : enfant Lowe, syndrome maladies génétiques congénitales maladies rares type(s) : * association patients Lowe, syndrome de

62. JGI Thaps V1.0 Annotation View. 134, 8.2%, gi 12644378 sp Q01968 OCRL_HUMAN Inositol polyphosphate 5phosphatase OCRL-1 (Lowe s oculocerebrorenal syndrome protein) Homo sapiens, View. http://genome.jgi-psf.org/cgi-bin/proteinDemote.pl?db=thaps1&proteinId=110398

63. JGI Thaps V1.0 Annotation , Sequence, View FASTA Sequence. Comment, () (M88162) Lowe oculocerebrorenal syndrome protein Homo sapiens Homo sapiens, 66.1% id. Best Hits,...... http://genome.jgi-psf.org/cgi-bin/proteinDemote.pl?db=thaps1&proteinId=107374

64. Brusa-Torricelli Syndrome (www.whonamedit.com) tumour syndrome AniridiaWilms tumor association Miller’s syndrome (RW Miller) Synonyms Aniridia-nephroblastoma syndrome, oculocerebrorenal syndrome. http://www.whonamedit.com/synd.cfm/2404.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. Brusa-Torricelli syndrome Also known as: Aniridia-Wilms’ tumour syndrome Aniridia-Wilms' tumor association Miller’s syndrome (R. W. Miller) Synonyms: Aniridia-nephroblastoma syndrome, oculocerebrorenal syndrome. Associated persons: P. Brusa R. W. Miller C. Torricelli Max Wilms Description: 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. Bibliography: P. Brusa, C. Torricelli:

65. Apelin; Peptide Ligand For APJ Receptor on chromosome Xq2526.3. Contains the OCRL1 gene for Lowe oculocerebrorenal syndrome protein OCRL-1. Contains ESTs, STSs and GSSs, http://telethon.bio.unipd.it/GETProfiles/Retina/ESTs/Hs.181060.html

The Human Retina transcriptional profile Unigene entry Hs.181060 (Jan, 14th, 2000). Hs.181060 Homo sapiens APELIN Apelin; peptide ligand for APJ receptor SEE ALSO LocusLink OMIM SELECTED MODEL ORGANISM PROTEIN SIMILARITIES H. sapiens PID:g3171882 100 % / 820 aa M. musculus PID:g2766529 - inositol polyphosphate 5-phosphatase II 49 % / 725 aa R. norvegicus PID:g2708493 - synaptojanin II 37 % / 353 aa D. melanogaster PID:g2749755 - /prediction=(method: 34 % / 674 aa C. elegans PID:g3874363 - Similarirty to Human 75 KD inositol-1,4, 5-triphosphate 5-phosphatase 32 % / 626 aa S. cerevisiae PID:e239927 - ORF YNL106c 36 % / 321 aa MAPPING INFORMATION Chromosome X Cytogenetic Position Gene Map 98 Marker A006N02 , Interval DXS1047-DXS998 Gene Map 98 Marker stSG43006 , Interval DXS1047-DXS998 EXPRESSION INFORMATION cDNA sources Brain, Breast, CNS, Colon, Eye, Germ Cell, Kidney, Lung, Ovary, Pancreas, Placenta, Prostate, Stomach, Testis, Tonsil, Uterus, Whole embryo, breast, lung SAGE Gene to Tag mapping mRNA/GENE SEQUENCES (4) Homo sapiens DNA sequence from PAC 454M7 on chromosome Xq25-26.3. Contains the OCRL1 gene for Lowe Oculocerebrorenal Syndrome protein OCRL-1. Contains ESTs, STSs and GSSs Homo sapiens DNA sequence from PAC 454M7 on chromosome Xq25-26.3. Contains the OCRL1 gene for Lowe Oculocerebrorenal Syndrome protein OCRL-1. Contains ESTs, STSs and GSSs

66. GASNet Anesthesiology: Contents M - R Nyhan. Lesch Nyhan Syndrome. Oculocerebrorenal. Lowe Syndrome (oculocerebrorenal syndrome). Opitz. Smith - Lemli - Opitz Syndrome. Optic Neuropathy. http://www.gasnet.org/pediatric-syndromes/m2r_br.php

Contents M - R - pediatric syndromes - Mandibular Dysostosis Treacher - Collins Syndrome (Mandibulofacial Dysostosis) Maple Syrup Maple Syrup Urine Disease (Branched Chain Ketonuria) Marble Bone Disease Albers - Schönberg Disease (Osteopetrosis, Marble Bone Disease) Marfan Marfan's Syndrome Marie Charcot - Marie - Tooth Disease Maroteaux Maroteaux - Lamy Disease McArdle McArdle Disease (Type V Glycogen Storage Disease) McCune McCune - Albright Syndrome Meckel Meckel's Syndrome MEN - Type II Sipple's Syndrome (MEN - type II) Menkes Menkes' Syndrome Merritt Kasabach - Merritt Syndrome Mikity Wilson - Mikity Syndrome Miller Miller's Syndrome Möbius Möbius Syndrome Moon Lawrence - Moon - Biedl Syndrome Morquio Morquio Syndrome (Mucopolysaccharidosis Type IV) Moschkowitz Moschkowitz Disease (Thrombotic Thrombocytopenic Purpura) Moss Gorlin - Chaudhry - Moss Syndrome Mucopolysaccharidosis Type I Hurler Syndrome (Mucopolysaccharidosis Type I) Mucopolysaccharidosis Type II Hunter's Syndrome (Mucopolysaccharidosis Type II) Mucopolysaccharidosis Type III Sanfilippo Syndrome (Mucopolysaccharidosis Type III) Mucopolysaccharidosis Type IV Morquio Syndrome (Mucopolysaccharidosis Type IV) Mucopolysaccharidosis Type V Scheie Disease (Mucopolysaccharidosis Type V) Myasthenia Gravis Myasthenia Gravis Myositis Myositis Ossificans (Fybrodysplasia Ossificans) Myotonia Myotonic Dystrophy (Steinert's Disease) Necrolysis Lyell Disease (Toxic Epidermal Necrolysis) Neonatal Ectopia Cordis Neonatal Ectopia Cordis Neurofibromatosis Neurofibromatosis (von Recklinghausen Syndrome) Nielsen

67. Disease - Fanconi´s Syndrome - Hartford, Connecticut , Saint Francis Care Lowe´s disease (oculocerebrorenal syndrome), a rare genetic disorder of the eyes, brain, and kidneys, can also cause Fanconi´s syndrome. http://www.saintfranciscare.com/12161.cfm

@import url(main.css); About Us Health Information Adam Article Manager CareMail Signup ... Ways To Help Adam Article Manager Back Back to main Health Information page Kidney anatomy Definition: 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. Alternative Names: De Toni-Fanconi syndrome Causes And Risk: The kidneys can also be damaged by prescribed drugs such as cidofovir (used to treat AIDS-related cytomegalovirus disease), gentamicin, tetracycline used after its expiration date, and azathioprine (used to suppress the immune system after organ transplantation, or to treat certain autoimmune disorders). Symptoms: Excess amounts of the following substances in the urine: amino acids, glucose, phosphate, magnesium, potassium, bicarbonate, and sodium.

68. Floppy Infant Syndrome CNS diseases, atonic diplegia, congenital cerebellar ataxia, kernicterus, chromosomal defects, oculocerebrorenal syndrome, cerebral lipidoses, PraderWilli http://www.5mcc.com/Assets/SUMMARY/TP0346.html

Floppy infant syndrome DESCRIPTION: Congenital myopathy marked by hypotonia and muscle weakness CAUSES: CNS diseases, atonic diplegia, congenital cerebellar ataxia, kernicterus, chromosomal defects, oculocerebrorenal syndrome, cerebral lipidoses, Prader-Willi syndrome, spinal cord diseases, spinal cord trauma, Werdnig-Hoffmann disease, peripheral nerve diseases, polyneuritis, familial dysautonomia, congenital sensory neuropathy, neuromuscular junction diseases, myasthenia gravis, infantile botulism, muscle diseases, congenital muscular dystrophy, myotonic dystrophy, glycogen storage disease of muscle and heart, central core disease, nemaline myopathy, mitochondrial myopathies ICD-9-CM: 781.9 other symptoms involving nervous and musculoskeletal systems SEE ALSO: Kernicterus Prader-Willi/Angelman syndrome Myasthenia gravis Botulism Author(s): Mark R. Dambro, MD

69. Genetic And Rare Diseases Information Center - Office Of Rare Diseases Oculocerebrocutaneous syndrome. oculocerebrorenal syndrome. Oculocutaneous albinism immunodeficiency. Oculocutaneous albinism type 1. http://ord.aspensys.com/asp/diseases/diseases.asp?this=O

70. Oc : On Medical Dictionary Online Syndrome Oculocardiac Reflex Oculocerebrorenal Dystrophies Oculocerebrorenal Dystrophy oculocerebrorenal syndrome Oculocutaneous Albinism Oculomotor Muscle http://www.online-medical-dictionary.org/?q=~Oc

71. Human Protein: Q01968 - Inositol Polyphosphate 5-phosphatase OCRL-1 (EC ) (Lowe' Human protein Q01968 Inositol polyphosphate 5-phosphatase OCRL-1 (EC ) (Lowe s oculocerebrorenal syndrome protein). OCRL oculocerebrorenal syndrome of Lowe. http://harvester.embl.de/harvester/Q019/Q01968.htm

Human protein: Q01968 - Inositol polyphosphate 5-phosphatase OCRL-1 (EC ) (Lowe's oculocerebrorenal syndrome protein). EMBL FORUM Length: 901 aa , molecular weight: 104132 Da , CRC64 checksum: UniProt ensEMBL Entrez RZPD ... EBI-Hinxton-"Uniprot-Swissprot-TrEMBL" database General information Entry name Accession number Created Rel. 26, 1-JUL-1993 Sequence update Rel. 40, 16-OCT-2001 Annotation update Rel. 43, 29-MAR-2004 Description and origin of the Protein Description Inositol polyphosphate 5-phosphatase OCRL-1 (EC ) (Lowe's oculocerebrorenal syndrome protein). Gene name(s) OCRL OR OCRL1 OR INPP5F. Organism source Homo sapiens (Human). Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo. NCBI TaxID References Attree,O., Olivos,I.M., Okabe,I., Bailey,L.C., Nelson,D.L., Lewis,R.A., McInnes,R.R., Nussbaum,R.L., The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. Nature Position SEQUENCE FROM N.A. (ISOFORM B).

72. UNSW Embryology-OMIM Glaucoma List DEFECT AND SENSORINEURAL HEARING LOSS *603221 MYOPIA 3; MYP3 106220 ANIRIDIA AND ABSENT PATELLA *309000 LOWE oculocerebrorenal syndrome; OCRL *123580 CRYSTALLIN http://anatomy.med.unsw.edu.au/cbl/embryo/OMIMfind/nerve/glaucomalist.htm

UNSW Embryology DEVELOPMENT OF NEURAL SYSTEM Embryology Home Page Glaucoma List Select Entry from OMIM Online Mendelian Inheritance in Man (Internet Link) This page is for computers without external internet access. Back to UNSW Embryology- Neural Notes Select Entries from OMIM Online Mendelian Inheritance in Man 101 entries found, searching for "glaucoma" GLAUCOMA 1, OPEN ANGLE, A; GLC1A GLAUCOMA 1, OPEN ANGLE, B; GLC1B GLAUCOMA 3, PRIMARY INFANTILE, A; GLC3A GLAUCOMA-RELATED PIGMENT DISPERSION SYNDROME; GPDS1 GLAUCOMA 1, OPEN ANGLE, E; GLC1E GLAUCOMA 3, PRIMARY INFANTILE, B; GLC3B GLAUCOMA 1, OPEN ANGLE, D; GLC1D GLAUCOMA 1, OPEN ANGLE, F; GLC1F ACKERMAN SYNDROME IRIDOGONIODYSGENESIS, TYPE 1; IRID1 IRIDOGONIODYSGENESIS, TYPE 2; IRID2 GLAUCOMA, JUVENILE SPASTIC PARESIS, GLAUCOMA, AND MENTAL RETARDATION GLAUCOMA 1, OPEN ANGLE, C; GLC1C DYSSEGMENTAL DYSPLASIA WITH GLAUCOMA TETRALOGY OF FALLOT AND GLAUCOMA GLAUCOMA WITH ELEVATED EPISCLERAL VENOUS PRESSURE GLAUCOMA AND SLEEP APNEA GLAUCOMA-LENS ECTOPIA-MICROSPHEROPHAKIA-STIFFNESS-SHORTNESS SYNDROME; GEMSS

73. GEMdatabase - Browse Titles Lowe Syndrome This review focuses on the diagnosis, management, and genetic counseling of patients and families with Lowe oculocerebrorenal syndrome. http://www.gemdatabase.org/GEMDatabase/BrowseTitles.asp?curpage=24

74. GEMdatabase - Selected Title DESCRIPTION This review focuses on the diagnosis, management, and genetic counseling of patients and families with Lowe oculocerebrorenal syndrome. http://www.gemdatabase.org/GEMDatabase/TitleDetailsOne.asp?TitleID=929

75. 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

Disease Database Syndromes Recent update from: 08.03.04 Disease Gene locus MIM Gene Gene MIM MoI Assignment Linked Marker [cM] Remarks References Cerebellar ataxia, ad, with retinal degeneration ADCAII, SCA7 ad Expanding translated CAG repeat Alagille Syndrome AGS ad Chinese boy - Interstitial deletion 46,XY,der(20)dir ins(7;20)(q11.23;p11.23p12.2 or p12.2p13)mat Mother - 46,XX,dir ins(7;20)(q11.23; p11.23p12.2 or p12.2p13) Alström Syndrome ALMS ar Refsum Disease PAHX ar Refsum Disease ar Posterior Column Ataxia with Retinitis Pigmentosa ar Wolfram Syndrome (Diabetes insipidus, diabetes mellitus, optic atrophy and deafness) DIDMOAD ar Vasculopathy, Retinal, With Cerebral Leukodystrophy HERNS, CRV, HRV ar Refsum Disease, infantile IRD ar Refsum Disease, infantile IRD ar Kearns-Sayre syndrome KS mt mitochondrial North Carolina Macular Dystrophy segregating with progressive sensorineural deafness ad Progressive sensorineural deafness present in all affecteds over age 40 Linkage to MCDR1 excluded Severe Mental Retardation, Spasticity, and Tapetoretinal Degeneration MRST ar Parents were at least first cousins Mohr-Tranebjaerg Syndrome MTS xl NARP syndrome mt mitochondrial Norrie disease ND NDP xl tel- DXS7 (L1.28) -MAOB- NDP- DXS426-cen

76. Oculocerebrorenal Syndrome Prev Term ocular toxoplasmosis Next Term oculocerebrorenal syndrome of Lowe oculocerebrorenal syndrome. Used for Used for oculocerebrorenal syndrome of Lowe http://crisp.cit.nih.gov/Thesaurus/00005770.htm

Prev Term: ocular toxoplasmosis Next Term: oculocerebrorenal syndrome of Lowe oculocerebrorenal syndrome Used for: cerebrooculorenal syndrome Used for: Lowe syndrome Used for: oculocerebrorenal syndrome of Lowe Broader Terms: inborn renal tubular transport disorder Broader Terms: mental retardation Broader Terms: syndrome Term Number: Send your comments to: CRISP

77. Syndrome Narrower Terms nephrotic syndrome Narrower Terms oculocerebrorenal syndrome Narrower Terms organic brain syndrome Narrower Terms polycystic ovary syndrome http://crisp.cit.nih.gov/Thesaurus/00007863.htm

Prev Term: syndecan Next Term: Synechococcus syndrome Used for: Alstrom syndrome Used for: Bardet Biedel syndrome Used for: Brachmann de Lange syndrome Used for: Cornelia de Lange syndrome Used for: de Lange syndrome Used for: dumping syndrome Used for: Eaton Lambert syndrome Used for: Joubert syndrome Used for: Kenny Caffey syndrome Used for: Lambert Eaton myasthenic syndrome Used for: Lambert Eaton syndrome Used for: LEOPARD syndrome Used for: MLS (Multiple Lentigines /LEOPARD syndrome) Used for: Multiple Lentigines Used for: Multiple Lentigines /LEOPARD syndrome Used for: myasthenic syndrome of Lambert Eaton Used for: Peutz Jeghers syndrome Used for: postgastrectomy syndrome Used for: postpericardiotomy syndrome Used for: Rabson Mendenhall syndrome Used for: Saethre Chotzen syndrome Used for: van der Woude syndrome See for: VDWS Broader Terms: disease /disorder Narrower Terms: adult respiratory distress syndrome Narrower Terms: AIDS Narrower Terms: Alport syndrome Narrower Terms: antiphospholipid syndrome Narrower Terms: Barretts esophagus Narrower Terms: Bartter's syndrome Narrower Terms: Behcet's syndrome Narrower Terms: Bloom syndrome Narrower Terms: carpal tunnel syndrome Narrower Terms: cerebrohepatorenal syndrome Narrower Terms: Chediak Higashi syndrome Narrower Terms: chronic fatigue syndrome Narrower Terms: congenital adrenal hyperplasia Narrower Terms: Conn's syndrome Narrower Terms: cri du chat syndrome Narrower Terms: Cushing's syndrome Narrower Terms: deToni Fanconi syndrome Narrower Terms: DiGeorge's syndrome Narrower Terms: Downs syndrome Narrower Terms:

78. LSA, 9th International Conference On Lowe Syndrome congenital malformations, mental retardation, aminoaciduria, reduced ammonia production by the kidney, Lowe syndrome, oculocerebrorenal syndrome, Xlinked http://mediconf.de/recstitl/20998402.HTM

MediConf World Calendar of Medical Events LSA, 9th International Conference on Lowe Syndrome human genetics, neurology, urology, pediatrics, nephrology, congenital malformations, mental retardation, aminoaciduria, reduced ammonia production by the kidney, Lowe syndrome, oculocerebrorenal syndrome, X-linked progressive inheritance, family life For details on this meeting and more meetings in the same field visit our Medical Specialty Calendar MediConf lists over 10000 future events including conferences, workshops, seminars, symposia and exhibitions in the fields of medicine, healthcare, pharmacology, and biotechnology. Every medical specialty is included, from allergy to zoonoses. MediConf is an excellent source of information for healthcare professionals and the pharmaceutical industry worldwide. Tel. +49 (511) 443330, Fax: +49 (511) 442770, Email: mediconf@aol.com

79. Entrez PubMed using as bait the peripheral Golgi phosphatidylinositol(4,5)P2 5phosphatase OCRL1 that is implicated in a human disease, the oculocerebrorenal syndrome. http://arthritis-research.com/pubmed/9915833

Entrez PubMed Nucleotide Protein ... Books Search PubMed Protein Nucleotide Structure Genome Books CancerChromosomes 3D Domains Domains Gene GEO GEO DataSets HomoloGene Journals MeSH NCBI Web Site OMIM PMC PopSet SNP Taxonomy UniGene UniSTS for Limits Preview/Index History Clipboard ... Text Version Entrez PubMed Overview FAQ Tutorial New/Noteworthy ... E-Utilities PubMed Services Journals Database MeSH Database Single Citation Matcher Batch Citation Matcher ... Cubby Related Resources Order Documents NLM Gateway TOXNET Consumer Health ... PubMed Central Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Genome Links GEO Links HomoloGene Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links UniSTS Links Show: Sort Author Journal Pub Date Text File Clipboard E-mail Order J Biol Chem. 1999 Jan 29;274(5):2953-62. Related Articles, Links Erratum in: J Biol Chem 1999 Apr 30;274(18):12950. Identification and characterization of golgin-84, a novel Golgi integral membrane protein with a cytoplasmic coiled-coil domain. Bascom RA, Srinivasan S, Nussbaum RL.

80. GM98: Chr.X Also on G3 map, click for details, 306.65, P1.14, stSG1667, OCRL, oculocerebrorenal syndrome of Lowe. 306.65, , stSG44630, Homo sapiens full length insert cDNA clone.. http://www.ncbi.nih.gov/genemap/map.cgi?BIN=617&MAP=GB4

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