Lowe Syndrome Association Charnas LR, Nussbaum RL (1994) Lowe syndrome (The oculocerebrorenal syndrome of Lowe). http://www.lowesyndrome.org/lwls/lwls-references.html
Extractions: Home Page Publications Living with Lowe Syndrome Medical and Scientific References 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 Living with Lowe Syndrome Table Of Contents Foreword I. Frequently Asked Questions II. Background III. Medical Features IV. Genetics V. Research VI. Development and Education VII. Parents and Families: Living with LS VIII. The Lowe Syndrome Association IX. Glossary X.Medical and Scientific References X. Medical and Scientific References Following is a list of several significant papers published in recent years:
Oculocerebrorenal Syndrome oculocerebrorenal syndrome up. Related topics http://bioresearch.ac.uk/browse/mesh/detail/C0028860L0028860.html
Extractions: Lowe syndrome mutation database The Lowe Syndrome Mutation Database is produced by Genetic Disease Research Branch within the US National Human Genome Research Institute (NHGRI). "Lowe oculocerebrorenal syndrome is an X-linked disorder caused by mutations in the OCRL1 gene, which encodes a 105- kDa Golgi protein with phosphatidylinositol (4,5) bisphosphate 5- phosphatase activity." Data and information provided include: Reported OCRL1 mutations causing Lowe Syndrome; Numbering of exons, nucleic acid sequence, and protein sequence used in this database; List of investigators; and References. Information on new mutations may be submitted online. Database [Publication Type] Databases, Genetic Molecular Sequence Data Oculocerebrorenal Syndrome ... Phosphoric Monoester Hydrolases
Extractions: (advertisement) Synonyms, Key Words, and Related Terms: Lowe's syndrome, oculocerebrorenal syndrome of Lowe, OCRL, renal Fanconi syndrome, congenital cataracts, neonatal or infantile hypotonia, mental retardation, mental impairment, renal tubular dysfunction Background: In 1952, Lowe and colleagues described an infant with congenital cataracts and mental retardation. When more patients were described, the phenotype was expanded to include the renal Fanconi syndrome, and the X-linked inheritance pattern was noted. The diagnostic triad of the oculocerebrorenal syndrome of Lowe (OCRL) includes congenital cataracts, neonatal or infantile hypotonia with subsequent mental impairment, and renal tubular dysfunction. Pathophysiology: OCRL is caused by an inherited mutation in the gene . The OCRL1 protein is a phosphatidylinositol 4,5-bisphosphate (PtdIns[4,5]P2) 5 phosphatase that is localized in the Golgi apparatus and appears to play a role in cellular trafficking. Deficiency of this enzyme may impair proper intracellular protein sorting, especially within polarized cells such as the renal epithelium and the optic lens. This may explain the epithelial cell phenotype, ie, the congenital cataracts and renal tubular dysfunction observed in OCRL. Mortality/Morbidity: Slowly progressive renal failure is the major cause of mortality in patients with OCRL. Fanconi syndrome of the renal tubule predisposes these patients to dehydration and metabolic imbalance, which can be severe. Patients with OCRL also have a tendency to develop pneumonia due to hypotonia and poor cough reflex. Other causes of death include infection and status epilepticus, and sudden unexplained death can occur. Death usually occurs in the second or third decade of life.
Lowe Syndrome Mutation Database Lowe oculocerebrorenal syndrome is an Xlinked disorder caused by mutationsin the OCRL1 gene, which encodes a 105- kDa Golgi protein with http://bioresearch.ac.uk/whatsnew/detail/3025683.html
Extractions: Back to whats new page. Lowe syndrome mutation database The Lowe Syndrome Mutation Database is produced by Genetic Disease Research Branch within the US National Human Genome Research Institute (NHGRI). "Lowe oculocerebrorenal syndrome is an X-linked disorder caused by mutations in the OCRL1 gene, which encodes a 105- kDa Golgi protein with phosphatidylinositol (4,5) bisphosphate 5- phosphatase activity." Data and information provided include: Reported OCRL1 mutations causing Lowe Syndrome; Numbering of exons, nucleic acid sequence, and protein sequence used in this database; List of investigators; and References. Information on new mutations may be submitted online. Database [Publication Type] Phosphoric Monoester Hydrolases Molecular Sequence Data Oculocerebrorenal Syndrome
Oculocerebrorenal Syndrome oculocerebrorenal syndrome . (also called Lowe's syndrome), hypotonia at birth with developmental delay. http://www.amersham-health.com/medcyclopaedia/Volume%20VII/OCULOCEREBRORENAL%20S
Extractions: *For Medical Professionals only, registration required Oculocerebrorenal syndrome, (also called Lowe's syndrome), hypotonia at birth with developmental delay. Delayed physical development, cataract and glaucoma, and renal tubular dysfunction are the main features. There is also hypophosphataemic rickets. Radiologically, the features are those of osteoporosis and rickets. For a general description, see Lowes syndrome
Extractions: (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Ophthalmology Metabolic Disorders Last Updated: March 30, 2001 Rate this Article Email to a Colleague Synonyms and related keywords: Lowe syndrome AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: DM Alcorn, MD , Director of Pediatric Ophthalmology, Lucile Packard Children's Hospital, Department of Ophthalmology, Stanford University School of Medicine DM Alcorn, MD, is a member of the following medical societies: American Academy of Ophthalmology , and American Association for Pediatric Ophthalmology and Strabismus Editor(s): Andrew Lawton, MD , Medical Director of Neuro-Ophthalmology Service, Section of Ophthalmology, Baptist Eye Center, Baptist Health Medical Center; Donald S Fong, MD, MPH , Assistant Clinical Professor of Ophthalmology, UCLA School of Medicine; Consulting Physician, Department of Ophthalmology, Southern California Permamente Medical Group; Brian R Younge, MD
Oculocerebrorenal Syndrome Of Lowe Homo sapiens. OCRL. oculocerebrorenal syndrome of Lowe http://telethon.bio.unipd.it/GETMaps/retina/ESTs/Hs.181060.html
Extractions: (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Last Updated: February 22, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: Lowe's syndrome, oculocerebrorenal syndrome of Lowe, OCRL, renal Fanconi syndrome, congenital cataracts, neonatal or infantile hypotonia, mental retardation, mental impairment, renal tubular dysfunction AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Melissa Wasserstein, MD , Assistant Professor, Departments of Human Genetics and Pediatrics, Mount Sinai School of Medicine Melissa Wasserstein, MD, is a member of the following medical societies: American Society of Human Genetics Editor(s): Ian Krantz, MD , Assistant Professor, Department of Pediatrics, University of Pennsylvania and Children's Hospital of Philadelphia; Robert Konop, PharmD
Extractions: This article has been cited by other articles: Gahl, W. A., Brantly, M., Kaiser-Kupfer, M. I., Iwata, F., Hazelwood, S., Shotelersuk, V., Duffy, L. F., Kuehl, E. M., Troendle, J., Bernardini, I. (1998). Genetic Defects and Clinical Characteristics of Patients with a Form of Oculocutaneous Albinism (Hermansky-Pudlak Syndrome). N Engl J Med [Abstract] [Full Text] ANIKSTER, Y., LUCERO, C., GUO, J., HUIZING, M., SHOTELERSUK, V., BERNARDINI, I., McDOWELL, G., IWATA, F., KAISER-KUPFER, M. I., JAFFE, R., THOENE, J., SCHNEIDER, J. A., GAHL, W. A. (2000). Ocular Nonnephropathic Cystinosis: Clinical, Biochemical, and Molecular Correlations. Pediatr Res [Abstract] [Full Text] Ungewickell, A. J., Majerus, P. W. (1999). Increased levels of plasma lysosomal enzymes in patients with Lowe syndrome.
Extractions: (advertisement) Synonyms, Key Words, and Related Terms: Fanconi's syndrome, Fanconi anemia, Fanconi's anemia, primary Fanconi syndrome, inherited Fanconi syndrome, secondary Fanconi syndrome, acquired Fanconi syndrome, idiopathic Fanconi syndrome, congenital aplastic anemia, congenital pancytopenia, nephrotic-glucosuric dwarfism with hypophosphatemic rickets, oculocerebrorenal syndrome, oculocerebrorenal syndrome of Lowe, Lowe syndrome, Lowe's syndrome, Lowe-Terrey-MacLachlan syndrome, vitamin D-dependent rickets, cystinosis, cystine storage disease, De ToniFanconi syndrome, Lignac-Fanconi syndrome, Wilson disease, Wilsons disease, galactosemia, glycogen storage disease Background: The renal syndrome that is identified with the Swiss pediatrician Guido Fanconi was actually described in parts and under various names by several investigators who preceded him. The first investigator was Abderhalden, who, in 1903, found cystine crystals in the liver and spleen of a 21-month-old infant and called the disease a familial cystine diathesis." In 1924, Lignac described 3 such children who presented with severe rickets and growth retardation. In 1931, Fanconi described a child who had glucosuria and albuminuria in addition to rickets and dwarfism. Two years later, de Toni added hypophosphatemia to the clinical picture, and, soon after, Debre et al found large amounts of organic acids in the urine of an 11-year-old girl.
Extractions: This article has been cited by other articles: Gahl, W. A., Brantly, M., Kaiser-Kupfer, M. I., Iwata, F., Hazelwood, S., Shotelersuk, V., Duffy, L. F., Kuehl, E. M., Troendle, J., Bernardini, I. (1998). Genetic Defects and Clinical Characteristics of Patients with a Form of Oculocutaneous Albinism (Hermansky-Pudlak Syndrome). N Engl J Med [Abstract] [Full Text] ANIKSTER, Y., LUCERO, C., GUO, J., HUIZING, M., SHOTELERSUK, V., BERNARDINI, I., McDOWELL, G., IWATA, F., KAISER-KUPFER, M. I., JAFFE, R., THOENE, J., SCHNEIDER, J. A., GAHL, W. A. (2000). Ocular Nonnephropathic Cystinosis: Clinical, Biochemical, and Molecular Correlations. Pediatr Res [Abstract] [Full Text] Ungewickell, A. J., Majerus, P. W. (1999). Increased levels of plasma lysosomal enzymes in patients with Lowe syndrome.
Lowe Oculocerebrorenal Syndrome Lowe oculocerebrorenal syndrome This disease is described in an article in GeneReviews. Copyright 2002 SimulConsultInc. http://www.simulconsult.com/resources/c0028860.html
Oculocerebrorenal Syndrome only. oculocerebrorenal syndrome,, Print this article, (also calledLowe's syndrome), hypotonia at birth with developmental delay. http://www.amershamhealth.com/medcyclopaedia/Volume VII/OCULOCEREBRORENAL SYNDRO
Extractions: *For Medical Professionals only, registration required Oculocerebrorenal syndrome, (also called Lowe's syndrome), hypotonia at birth with developmental delay. Delayed physical development, cataract and glaucoma, and renal tubular dysfunction are the main features. There is also hypophosphataemic rickets. Radiologically, the features are those of osteoporosis and rickets. For a general description, see Lowes syndrome
Extractions: Disease : Lowe oculocerebrorenal syndrome OMIM number : Body System : Eye disorder Type : Inheritance pattern : X-Linked Incidence/prevalence : P Population surveyed : UK Date of survey : Number of cases : Size of population surveyed : Frequency figure (1 in ...) : Frequency figure for females : Method (direct/indirect) : Reference : Martin VAF, Carson NAJ. Inborn metabolic disorders with associated ocular lesions in Northern Ireland. Trans Ophthalmol Soc UK 1967:87;847-870. Comments :
