81. %104200 ALPORT SYNDROME, AUTOSOMAL DOMINANT DiBona, GF alport s syndrome a genetic defect in biochemical composition ofbasement membrane of glomerulus, lens, and inner ear? (Editorial) J. Lab. http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:104200] -e

82. Genetic Diseases, Inborn Topics covered include alport syndrome, autism and deafness a Some backgroundinformation on basic genetic concepts is also available here. http://omni.ac.uk/browse/mesh/D030342.html

low graphics Genetic Diseases, Inborn broader: Congenital, Hereditary, and Neonatal Diseases and Abnormalities other: Abnormalities Fetal Diseases Infant, Newborn, Diseases narrower: Achondroplasia Adrenal Hyperplasia, Congenital Ataxia Telangiectasia Chromosome Disorders ... Clinical genetics : a self study for health care providers A manual or studying guide providing health care professionals with the necessary background information, skills and tools to recognize the need for a genetics referral, identify area resources and providing supportive care for individuals and families with a genetic disorder. After completing this manual, health care providers should be able to (1)identify individuals and families who might benefit from genetic services, (2)assist them in accessing these services, and (3)answer questions they might have following a genetic consultation. This textbook is part of the Virtual Hospital at the University of Iowa, a digital library that makes available a collection of electronic multimedia health information resources for health professionals and patients. Teaching Materials Genetics, Medical

83. Nephritis, Hereditary This fact sheet focuses on alport s syndrome (a genetic disease that causesprogressive kidney damage), published in April 2003. Issues covered include the http://omni.ac.uk/browse/mesh/D009394.html

low graphics Nephritis, Hereditary Nephritis, Hereditary / genetics broader: Urogenital Abnormalities other: Bladder Exstrophy Cryptorchidism Epispadias Hypospadias ... Polycystic Kidney Diseases Nephritis, Hereditary / genetics GeneReviews : Alport syndrome Notes for physicians on Alport syndrome (hereditary nephritis). This document includes diagnosis, a clinical description, differential diagnosis, management, genetic counselling, and molecular genetics. Posted in August 2001, this resource forms part of GeneReviews (formerly GeneClinics profile), a peer-reviewed clinical genetic information resource that is funded by the US National Institutes of Health (NIH) and produced by the University of Washington, Seattle. This resource contains a summary and bibliographical references of the review. Last revised in December 2003. Nephritis, Hereditary / genetics Alport's syndrome One in a series of patient-oriented fact sheets produced by the Australian Kidney Foundation. This fact sheet focuses on Alport's syndrome (a genetic disease that causes progressive kidney damage), published in April 2003. Issues covered include the genetics of Alport's, common clinical signs and symptoms, diagnosis, treatment, and current research areas. This 2 page document is in PDF, which requires Adobe Acrobat Reader. Patient Education Handout [Publication Type] Last modified: 16 Sep 2005

84. Medicine - UserLogin alport s syndrome A genetic defect in biochemical composition of basement membraneof Genetic heterogeneity among kindreds with alport syndrome. http://www.md-journal.com/pt/re/medicine/fulltext.00005792-199909000-00005.htm

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85. Geneticagroup alport syndrome and mental retardation clinical and genetic dissection of thecontiguous gene deletion syndrome in Xq22.3 (ATSMR). J Med Genet 39359-365, http://www.unisi.it/ricerca/dip/bio_mol/LABORATORI/RENIERI/reniergroup.htm

Department of Molecular Biology Medical Genetics Laboratory Coordinator: Prof. Alessandra Renieri La Struttura Coworkers Dr. Francesca Ariani Dr. Mirella Bruttini Dr. Ilaria Longo Dr. Francesca Mari Dr. Ilaria Meloni Dr. Chiara Pescucci Alessandra Renieri, M.D., Ph.D. Associate Professor in Medical Genetics M.D. University of Siena, Italy, 1989 Ph.D. (Medical Genetics). University of Siena, Italy, 1993 Medical Genetics Specialty degree, University of Florence, Italy, 1998 Click here for a detailed CV Research activity My research interests focus on the causes of nephropathy and mental retardation. For the former, my laboratory is concentrated, since several years, on molecular basis of Alport syndrome, a hereditary nephropathy which may be transmitted both as X-linked as well as an autosomal recessive or autosomal dominant trait. We have performed mutation analysis in both COL4A5 gene on the X chromosome and COL4A3/COL4A4 genes on chromosome 2 in several patients. Our results suggest that the autosomal form of Alport syndrome may be a model between dominant and recessive inheritance, leading to important implications for clinical practice and genetic counseling. We have identified several novel mutations in MECP2 gene in patients with Rett syndrome, a neurodegenerative disorders affecting young girls. We have collaborated with Dr. Zappella (Neuropsychiatry, Siena) in an attempt to determine if a genotype/ phenotype correlation exists. We have found that the a benign variant of Rett phenotype, called Presereved Speech Variant, most frequently results from either missense mutations or mutations giving rise to a late truncated form of the MECP2 gene. We will now attempt to find modifier genes which may change prognosis of these patients. Also, we have recently identified a truncating mutation in MECP2, which causes XLMR in males. Thus, mutations in this gene give rise to XLMR different from Rett syndrome.

86. Geneticalliance.org Disease InfoSearch Condition Search Organization Search Directory InclusionGuidelines What is a Genetic Disease? alport syndrome Support Groups http://www.geneticalliance.org/ws_display.asp?filter=support_groups_by_disease&t

87. Genetic Hearing Loss (Apr.2000) Genetic heterogeneity had been confirmed for alport’s syndrome. The gene on theXchromosome has been identified as COL4A5, which codes for a certain form http://www.utmb.edu/otoref/Grnds/Genetic-HL-0004/Genetic-HL-0004.htm

TITLE: Genetic Hearing Loss SOURCE: Grand Rounds Presentation, UTMB, Dept. of Otolaryngology DATE: April 5, 2000 RESIDENT PHYSICIAN: Stephanie Cordes, M.D FACULTY PHYSICIAN: Norman Friedman, M.D. SERIES EDITOR: Francis B. Quinn, Jr., M.D. Return to Grand Rounds Index "This material was prepared by resident physicians in partial fulfillment of educational requirements established for the Postgraduate Training Program of the UTMB Department of Otolaryngology/Head and Neck Surgery and was not intended for clinical use in its present form. It was prepared for the purpose of stimulating group discussion in a conference setting. No warranties, either express or implied, are made with respect to its accuracy, completeness, or timeliness. The material does not necessarily reflect the current or past opinions of members of the UTMB faculty and should not be used for purposes of diagnosis or treatment without consulting appropriate literature sources and informed professional opinion." Introduction Deafness is the most common sensory defect, affecting 1.3-2.3 per 1000 children.  Studies based on pupil records in schools for the deaf have attributed about 50% of childhood sensorineural hearing impairment to genetic factors.  About 20% to 25% of cases have been assigned to identifiable environmental causes, prenatal, perinatal, or postnatal, whereas 25%-30% are classified as sporadic cases of unknown etiology, composed to some degree of nonsyndromic genetic hearing losses.  Advances in diagnosis and therapy including the development of immunizations against infectious agents, which cause hearing loss, should cause a relative increase in the prevalence of genetic sensorineural hearing loss.  This relative increase will mandate an increase in the clinicians familiarity with the full spectrum of these disorders.

88. UK NKF - Should Members Of The Family Have Tests To Look For Alport's Syndrome? This description of the inheritance of alport s syndrome applies to the 9 out of10 families who have the commoner genetic problem. http://www.kidney.org.uk/Medical-Info/alports/tests.html

Alport's Syndrome Should members of the family have tests to look for Alport's Syndrome? This description of the inheritance of Alport's syndrome applies to the 9 out of 10 families who have the commoner genetic problem. Some families are more complicated, and advice should be taken from a specialist in genetics. The need for testing family members will be discussed from the point of view of a man with Alport's syndrome, and then from the point of view of a woman with Alport's syndrome. Who to test if a man has Alport's syndrome His parents Alport's syndrome should have been inherited from his mother, though occasionally the genetic abnormality has occurred for the first time in the affected person. His mother should have urine tests for blood. If there is blood in the urine, kidney function and blood pressure should be tested, and a kidney specialist consulted. If the mother is completely clear, the father should be checked, in case there is a rarer variant of Alport's syndrome. His brothers There is a 50:50 chance that a brother will have Alport's syndrome. Urine should be tested for blood. If he has blood in the urine, kidney function and blood pressure should be measured, and a kidney specialist consulted. A brother might have Alport's syndrome, and could pass this onto his daughters. If there is no blood in the urine on several tests, he should not have the Alport's syndrome gene, and so cannot pass the condition onto his children.

89. Entrez PubMed alport syndrome and mental retardation clinical and genetic dissection of thecontiguous gene deletion syndrome in Xq22.3 (ATSMR). Meloni I, Vitelli F, http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

90. Attitudes Towards Genetic Testing For Hearing Impairment Measured and alport syndrome (hearing impairment and renal tubular dysfunction), Currently, the role of genetic testing in the EHDI process is undefined. http://www.medicalnewstoday.com/medicalnews.php?newsid=25281

91. BioStratum Announces Agreements With Genzyme For Alport Syndrome of the genetic basis of the basal lamina defects in alport syndrome. Patients suffering with alport syndrome have no proven therapeutic options. http://www.prnewswire.co.uk/cgi/news/release?id=91337

92. Benign Familial Hematuria,Benign Recurrent Hematuria,Essential Thus, the genetic defects in alport s syndrome and TGBM nephropathy are similar,resulting in abnormal GBM formation; however, the clinical sequelae are http://www.icomm.ca/geneinfo/bfh.htm

93. Autosomal-dominant Giant Platelet Syndromes: A Hint Of The Same Genetic Defect A Genetic linkage of autosomal dominant alport syndrome with leukocyte inclusionsand macrothrombocytopenia (Fechtner syndrome) to chromosome 22q1113. http://www.bloodjournal.org/cgi/content/full/96/10/3447

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Abstract Full Text (PDF) Alert me when this article is cited ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Rights and Permissions PubMed PubMed Citation Articles by Toren, A. Articles by Greinacher, A. Related Collections Hematopoiesis Hemostasis, Thrombosis, and Vascular Biology Blood, 15 November 2000, Vol. 96, No. 10, pp. 3447-3451 HEMOSTASIS, THROMBOSIS, AND VASCULAR BIOLOGY Autosomal-dominant giant platelet syndromes: a hint of the same genetic defect as in Fechtner syndrome owing to a similar genetic linkage to chromosome 22q11-13 Amos Toren Galit Rozenfeld-Granot Bianca Rocca Charles J. Epstein Ninette Amariglio Ferdinando Laghi Raffaele Landolfi Frida Brok-Simoni Lena E. Carlsson Gideon Rechavi and Andreas Greinacher From the Pediatric Hemato-Oncology Department and the Institute of Hematology, the Chaim Sheba Medical Center, Tel-Hashomer, Tel-Aviv, Israel; Research Center on Pathophysiology of Heamostasis, Catholic University of Medicine, Rome, Italy; Department of Pediatrics, University of California, San Francisco, CA; Department of Medicine, Castrovillari Hospital, Castrovillari, Italy; and Institut for Immunology and Transfusion Medicine, Ernst-Moritz- Arndt-University, Greifswald, Germany. Abstract Top Abstract Introduction Patients and methods Results Discussion References

94. Alport' alport s syndrome is progressive hereditary hematuric glomerulonephritis that Specific genetic tests are available for identifying the over 100 known http://www.unict.it/medint/alport.htm

Alport's syndrome is progressive hereditary hematuric glomerulonephritis that generally affects males much more severely than females. There is a juvenile form of the disease in which boys develop renal failure at a mean age of 18 years, and an adult type in which renal failure occurs in men around the age of 35. Alport's syndrome is often associated with progressive hearing loss and occasionally with other nonrenal defects. Genetics Inheritance in the largest and best-studied kindreds is X-linked dominant. Nearly 100 different mutations of the COL4A5 gene that codes for the a5 chain of type IV collagen have been described. COL4A5 is located on the X chromosome at Xq22. In occasional families with early development of renal failure in both genders, autosomal recessive Alport's syndrome results from mutations of COL4A3 or COL4A4, both on chromosome 2 at 2q36. However, other families, particularly those with associated thrombopathy, display autosomal dominant inheritance, with as yet obscure mutations. Pathogenesis The fundamental lesion in most variants of Alport's syndrome is a defect in one of the genes coding for the a3, 4, or 5 chains of type IV collagen in the glomerular basement membrane (GBM). If one a chain is defective, normal assembly of a chain heterotrimers cannot occur. This is believed to lead to formation of imperfect collagen, apparent ultrastructurally as thickening and lamellation of the GBM and other basement membranes.

95. Biocenter Oulu alport syndrome a genetic study of 31 families. Hum Genet 90420426, 1992.Mannermaa RM, Oikarinen J. Nucleoside triphosphate binding and hydrolysis by http://www.biocenter.oulu.fi/1-research_projects_and_facilities-2-publications-3

BIOCENTER OULU RESEARCH PROJECTS AND FACILITIES CALENDAR OF EVENTS GRADUATE SCHOOL ... PUBLICATIONS Publications 1992 Antignac C, Zhou J, Sanak M, Cochat P, Roussel B, Deschenes G, Gros F, Knebelmann B, Hors-Cayla MC, Tryggvason K, Gubler MC. Alport syndrome and diffuse leiomyomatosis - Deletions in the 5' end of the COL4A5 collagen gene. Kidney Int 42:1178-1183, 1992. Eskelinen S, Huotari V, Sormunen R, Palovuori R, Kok JW, Lehto V-P. Low intracellular pH induces redistribution of fodrin and instabilization of lateral walls in MDCK-cells. J Cell Physiol 150:122-133, 1992. Henttu P, Liao S, Vihko P. Androgens Up-regulate the Human Prostate-Specific Antigen Messenger Ribonucleic acid (mRNA) but Down-regulate the Prostatic Acid Phosphatase mRNA in the LNCap Cell Line. Endocrinology 130:766-772, 1992. Henttu P, Vihko P. Steroids inversely affect the biosynthesis and secretion of human prostate-specific antigen in the LNCaP cell line. J Steroid Biochem Mol Biol 41:349-363, 1992.

96. Alport Syndrome With Diffuse Leiomyomatosis : When And When Not? -- Miner 154 (6 In contrast, the underlying genetic defect in alport syndrome is a mutation inany one of three genes encoding what have been termed novel type IV collagen http://ajp.amjpathol.org/cgi/content/full/154/6/1633

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS This Article Full Text (PDF) Purchase Article View Shopping Cart Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager ... Cited by other online articles PubMed PubMed Citation Articles by Miner, J. H. American Journal of Pathology. American Society for Investigative Pathology Commentary Alport Syndrome with Diffuse Leiomyomatosis When and When Not? Jeffrey H. Miner From the Department of Medicine, Renal Division, Washington University School of Medicine, St. Louis, Missouri The 1990s have been an exciting and productive decade for the molecular dissection of the etiology of Alport syndrome. Alport syndrome is a hereditary glomerulonephritis accompanied usually by sensorineural deafness, frequently by ocular abnormalities, and rarely by diffuse leiomyomatosis (DL), which is characterized by benign nodular smooth muscle tumors of esophagus, tracheo-bronchial tree, and genital tract. The primary mode of inheritance of

97. Alports Syndrom - Små Och Mindre Kända Handikappgrupper Genetic, Clinical, and Morphologic Heterogeneity in alport´s syndrome. Adv Nephrol1993; 22 1535. Mosby - Year Book, Inc. Hallberg A. alport´s syndrome. http://www.sos.se/smkh/1998-29-067/1998-29-067.htm

Socialstyrelsen 106 30 Stockholm Socialstyrelsen klassificerar sin utgivning i olika dokumenttyper Alports syndrom Sjukdom/skada/diagnos Orsak till sjukdomen/skadan Symtom Diagnostik ... Databasreferenser Dokumentdatum: 2001-02-26 HTML-version 2.0 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. Sjukdom/skada/diagnos Orsak till sjukdomen/skadan X-kromosombundet dominant autosomalt recessivt autosomalt dominant Symtom Diagnostik Praktiska tips Resurspersoner Barnnefrologer med speciell kunskap om Alports syndrom: Professor Ulla Berg, Barnens sjukhus, Huddinge Universitetssjukhus, 141 86 Stockholm

98. American Hearing Research Foundation (AHRF) Congenital Hearing Loss This database is a catalog of human genes and genetic disorders. alport syndrome.alport syndrome is caused by mutations in COL4A3, COL4A4 or COL4A5. http://www.american-hearing.org/name/cong_hearing.html

Hearing Topics Acoustic Neuroma AutoImmune Inner Ear Disease (AIED) B12 Deficiency Barotrauma Bilateral Vestibulopathy Chiari Malformation Cogan's Patient Story Cogan's Syndrome Congenital Hearing Loss Ear Wax Gentamicin Toxicity Glomus Tumor Hearing Aids Hearing Loss Hearing Testing How We Hear Meniere's Disease Noise Induced Hearing Loss Otosclerosis Ototoxicity From Ear Drops Perilymph Fistula Sudden Hearing Loss Tinnitus Balance Topics Acoustic Neuroma AutoImmune Inner Ear Disease (AIED) B12 Deficiency Barotrauma Bilateral Vestibulopathy Bilateral Vestibulopathy Causes BPPV BPPV - Comments on Recent Papers Cervical Vertigo Chiari Malformation Cogan's Patient Story Cogan's Syndrome Destructive Treatments Drop Attacks Epileptic Vertigo Gentamicin Toxicity Mal de Debarquement (MDD) Medical Treatment of Vertigo Meniere's Disease Microvascular Compression Migraine Associated Vertigo Ototoxicity From Ear Drops Perilymph Fistula Post-Traumatic Vertigo Primary Orthostatic Tremor Surgical Treatment Vestibular Neuritis / Labyrinthitis Vestibular Rehabilitation Vestibular Testing Vestibuloocular Reflex (VOR) Test Timothy C. Hain, MD

99. The Health Library — Urinary System alport SyndromeNKF alport SyndromeKidney Foundation of Canada alportSyndromeGenetics Home Reference, NLM alport SyndromeGeneReviews http://healthlibrary.stanford.edu/resources/internet/bodysystems/urinary_kidney.

Diseases and Disorders Use these links to jump directly to your topic of interest in Urinary System: Diseases: Bladder Diseases Kidney Diseases Kidney Failure Ureteral Diseases ... Urinary Tract Infections Other Topics: General Urinary System Anatomy Diagnostic Procedures Dialysis ... Urination Disorders Kidney Diseases (Jump to: Children With Kidney Disease Diabetic Kidney Disease General Information Infections ... Kidney Surgery Specific Kidney Diseases: Acid-Base Disorders Cancer Chronic Kidney Disease Cysts ... Vascular Kidney Disease General Information Kidney Disease Information:NIDDK Protect Your Kidneys:NIDDK Solitary Kidney:NIDDK The Newsroom (News Flashes About Kidney Disease):NKF ... Effects of Omega-3 Fatty Acids on ... Renal Disease ... :AHRQ Overviews Your Comprehensive Guide To Kidney Disease and Related Conditions:NKF Renal Dysplasia and Cystic Disease:AUA Atlas of Diseases of the Kidney:Current Medicine Nephrology Articles (Index):eMedicine ... Kidney Diseases:MedlinePlus Children With Kidney Disease Overview of Kidney Diseases in Children:NIDDK Growth Failure in Children With Kidney Disease:NIDDK Failure to Grow in Chronic Kidney Disease:MAGIC Foundation Nutrition for Children with Chronic Kidney Diease:NKF ... Chronic Kidney Conditions:Nemours Foundation [for Teens] Acid-Base Disorders Renal Tubular Acidosis:NIDDK Bartter's Syndrome:Merck Manual Bartter Syndrome:eMedicine Chronic Kidney Disease Introduction to Chronic Kidney Disease:Life Options Chronic Kidney Disease (CKD):NKF Chronic Kidney Disease: A Family Affair:NIDDK Nutrition and Chronic Kidney Disease:NKF Diabetes Insipidus

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