Delayed Development Disease; NiemannPick Disease (Classic Infantile and Juvenile); NoonanSyndrone; oculocerebrorenal syndrome (Lowe Syndrome); Oral-Facial http://www.rogerknapp.com/knap/eci.htm
Extractions: Delayed Development Evaluating children for proper development is sometimes difficult since there is such a wide variety in the rate of different children. Check with your doctor or compare your child with others of the same age. If you have concerns then you should call this Early Childhood Intervention (ECI) line and have your child evaluated. It can't hurt. Satisfy yourself that your child is in the normal range. ECI is paid by the government and can give your child therapy if they are behind the normal range of development or have disabilities. They serve up to age three. ECI services for children: ECI services for families: education and counseling.
Renal Glucosuria From Pediatrics / Nephrology be associated with tubular disorders such as Fanconi syndrome, cystinosis, Wilsondisease, hereditary tyrosinemia, or oculocerebrorenal syndrome (Lowe syndrome http://author.emedicine.com/ped/topic1991.htm
Extractions: AUTHOR INFORMATION Section 1 of 11 Authored by Leonard G Feld, MD, PhD , Chairman, Department of Pediatrics, Atlantic Health System, Professor, Department of Pediatrics, University of Medicine and Dentistry of New Jersey Leonard G Feld, MD, PhD, is a member of the following medical societies: American Academy of Pediatrics American College of Physician Executives American Diabetes Association American Heart Association ... Society for Experimental Biology and Medicine , and Society of Pediatric Research Edited by Laurence Finberg, MD , Clinical Professor, Department of Pediatrics, University of California at San Francisco and Stanford University; Robert Konop, PharmD , Clinical Assistant Professor, Department of Pharmacy, Section of Clinical Pharmacology, University of Minnesota; Luther Travis, MD
Fanconi Syndrome From Pediatrics / Nephrology An exception to this mode of inheritance is oculocerebrorenal syndrome,which is transmitted as an Xlinked recessive trait. In http://author.emedicine.com/PED/topic756.htm
1Up Health > Health Links Directory > Conditions And Diseases: O Obesity (50) Obsessive Compulsive Disorder (64) Ochronosis (4) Ocular Migraine (9)Ocular Motility Disorders (8) oculocerebrorenal syndrome (5) ODD and CD (10 http://www.1uphealth.com/links/conditions-and-diseases-o.html
Extractions: The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only they do not constitute endorsements of those other sites. Home Contact Us Privacy Links Directory
Neonatology On The Web: Inborn Errors Of Metabolism Galactosemia and Lowe's syndrome (oculocerebrorenal syndrome, an Xlinked recessivedisorder with congenital cataracts, proximal RTA, and mental retardation http://www.neonatology.org/syllabus/iem.03.html
Extractions: Algorithms for Evaluation william.wilcox@cshs.org Suspected IEM with Metabolic Acidosis, Diagnostic Flowchart The presence of metabolic acidosis is an important finding and the starting point for one of the two algorithms. If the anion gap is normal and associated with hyperchloremia, this suggests loss of bicarbonate either from the gastrointestinal tract or kidneys. The presence of renal tubular acidosis does not rule out an IEM, however. Galactosemia and Lowe's syndrome (oculocerebrorenal syndrome, an X-linked recessive disorder with congenital cataracts, proximal RTA, and mental retardation) as well as many other metabolic disorders which present later are associated with a RTA, usually a proximal RTA. RTA is often found with disorders of energy metabolism. Elevated anion gap acidosis can be divided into 3 categories depending on the presence of ketones and glucose level. Because the normal ketones (acetoacetic acid and 3-hydroxybutyrate) come from the oxidation of fatty acids, their absence associated with significant hypoglycemia can be suggestive of a fatty acid oxidation disorder. These disorders often present later in life with a Reye syndrome picture or "SIDS". The presence of ketones in the urine (may only be 1+) hypoglycemia suggests an organic aciduria or lactic acidosis. Hyperglycemia and ketonuria defines diabetes mellitus. Metabolic acidosis cannot be further differentiated without the results of the amino and organic acids. If these are normal (except for the changes found with lactic acidosis), then the lactate/pyruvate ratio and the glucose level will allow differentiation into 1) glycogen storage disease, gluconeogenesis disorders, or endocrine causes; 2) disorders of pyruvate metabolism; or 3) defects in mitochondrial energy metabolism.
Dorlands Medical Dictionary lens. aminoaciduria cataract, capsular thickening occurring in aminoaciduria,homocystinuria, and oculocerebrorenal syndrome. atopic http://www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspzQzpgzEzzSzppdocszSzuszS
Membraan Transportsystemen 3 Fanconi Renotubular syndrome II. The oculocerebrorenal syndromeof Lowe 1 Lowe Syndrome (OCRL). Mendelian Hypophosphatemias http://www.homepages.hetnet.nl/~b1beukema/ziekmembraan.html
Extractions: Membraan transportsystemen Congenitale selectieve Na D -Glucose Cotransport Defecten Glucose-Galactose Malabsorption Renal Glycosuria Transportdefecten van aminozuren over de celmembraan Cystinurie ( Type I) (CSNU) Cystinurie (Type II) (CSNU 2) Cystinurie (Type III) (CSNU 3) 2 Ziekte van Hartnup Lysinurische eiwit intolerantie ( LPI of Dibasicaminoaciduria II ) Iminoglycinuria : Familial Iminoglycinuria Renal Tubular Acidosis : (RTA) : Classical hypokalemic distal renal tubular acidosis (Type I RTA) Proximal renal tubular acidosis (Type II RTA) Renal tubular acidosis Type III The renal Fanconi Syndrome : Fanconi Renotubular Syndrome Fanconi Renotubular Syndrome I Fanconi Renotubular syndrome II The Oculocerebrorenal Syndrome of Lowe : Lowe Syndrome (OCRL) Mendelian Hypophosphatemias : Hereditary hypophosphatemia with hypercalciuria (HHRH) ( Type I ) Hypophosphatemic bone disease (HBD) ( Type II ) X-Linked Hypophosphatemia ( XLH ) ( Type III ) Autosomal dominant vitamin D resistant rickets ( not HBD ) ( Type IV ) Autosomal recessive hypophosphatemic rickets ( Type V ) Hereditary Renal Hypouricemia Hereditary Renal Hypouricemia Lysosomale transport stoornissen : Cystinosis and Sialic Acid Storage Disorders : Infantiele cystinose Juveniele cystinose volwassen cystinose Salla Disease ... Infantile Free Sialic Acid Storage Disease ( ISSD ) Other disorders of Lysosomal Membrane Transport :
Extractions: Course Homepage Course Topics Course Homework The table below was compiled by the staff of the National Center for Biotechnology Information. This list contains many of the early genes that were cloned by positional cloning. Many additional genes have also been discovered using this technique. I would like to the thank the staff of NCBI, in particular Tyra Wolfsberg and John Pearson, for making this site available. Low-Complexity Segments Possible Non-Globular Regions Disease Gene Symbol Year Accession Number OMIM Number Number Percent Number Percent Aarskog-Scott Syndrome Achondroplasia FGFLR Adenomatous Polyposis Coli APC Adrenoleukodystrophy, X-linked ALD Agammaglobulinemia, X-linked BTK Alagille Syndrome AGS Alzheimer Disease (Chromosome 14) Alzheimer Disease (Chromosome 1) Amyotrophic Lateral Sclerosis Angelman Syndrome AS Anhidrotic Ectodermal Dysplasia EDA Aniridia Ataxia Telangiectasia ATM Barth Syndrome BTHS Basal Cell Nevus Syndrome BCNS Best Macular Dystrophy BMD Bloom Syndrome BLM Breast Cancer, Type 1
Distribution Of 27 Blast Hits On The Query Sequence 76267 gi 1332523 emb Z73496.1 HSU120E2 Human DNA sequence from cosmid cU120E2,on chromosome X contains Lowe oculocerebrorenal syndrome (OCRL) ESTs and STS http://mycor.nancy.inra.fr/poplardb/BlastN/F02D08.blastn.html
Extractions: Taxonomy reports Score E Sequences producing significant alignments: (bits) Value Homo sapiens hypothetical prot... Streptococcus pneumoniae ... Human DNA sequence from... Novel human gene mappin... Homo sapiens mRNA for KI... Mus musculus chromosome ... Homo sapiens chromosome ... Homo sapiens chromosome ... Arabidopsis thaliana chro... Arabidopsis thaliana ABA-... Arabidopsis thaliana DNA... Homo sapiens chromosome ... Homo sapiens membrane-bo... Homo sapiens BAC clone RP... Homo sapiens chromosome 5... Homo sapiens chromosome 5... Mus musculus chromosome u... Homo sapiens PAC clone RP... Homo sapiens BAC clone RP... Human DNA sequence fro... Homo sapiens chromosome 1...
C. Elegans sclerosis (ALS), Duchenne muscular dystrophy, dominant myotonia congenita, KleinWaardenburg syndrome, Lowe oculocerebrorenal syndrome, neurofibromatosis type http://www.cbse.ucsc.edu/packard.html
Extractions: Bioinformatic and Microarray Expression Analysis of Nervous System Function Index INTRODUCTION Among several biological systems compatible with genomic technologies, the tiny nematode worm, Caenorhabditis elegans , has emerged as a leading model system. It is the first animal whose genome has been completely sequenced , and more importantly, examination of the C. elegans genome has revealed a dramatic similarity between many of its genes and human genes, including genes involved in cellular differentiation and development, and in particular, the development and function of the nervous system. The C. elegans nervous system contains just over 300 neurons that make about 7000 connections with each other. Most importantly, the developmental origin of each worm neuron is known . This detailed neural model has proved invaluable in understanding human and other vertebrate nervous systems. The University of California, Santa Cruz proposes an interdisciplinary research effort among scientists in Computer Science, Computer Engineering, Applied Mathematics and Statistics, Chemistry and Biochemistry, and Biology to use expression arrays (gene chips) and computational analysis of gene sequences and expression patterns to find and classify all genes important for nervous system development and function in the worm. This project could not be carried out without the individual contributions of the participating biologists, chemists, mathematicians, and computer scientists and engineers. By identifying and analyzing the proteins encoded by these genes in
Untitled Lowe's Syndrome (oculocerebrorenal syndrome) is a condition associatedwith cataracts, mental retardation and kidney disease. Alport's http://www.ofcn.org/cyber.serv/hwp/hwc/eye/news/eye023.html
Extractions: Newsgroups: ofcn.clinic.eye-doctor I was recently informed that retina damage can result from kidney problems even when there exist no other perceived symptomatology. If this is indeed true, is it possible that the damage can be the result of some transient kidney condition? If the kidney difficulty is sufficient to cause damage to the retina, what damage might be expected to other organ systems? Answered by Richard E. Gans, M. D. (xx102@ofcn.org) In order to answer your question, more specific information would be helpful. In general, retina problems can result from transient or chronic kidney disease. Most of the retina damage comes from HIGH BLOOD PRESSURE that often accompanies a kidney condition. The high blood pressure can damage other organ systems. As the kidney condition resolves, the retina problem often improves. Rarely, retinal detachment can result from severe kidney conditions. This is not the typical type of retinal detachment that requires surgery. It is due to leakage of fluid from blood vessels deep inside the eye. Correcting the underlying kidney condition can lead to spontaneous reattachment of the retina.
