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         Alport Syndrome Genetics:     more detail
  1. Molecular Pathology and Genetics of Alport Syndrome (Contributions to Nephrology)
  2. The Molecular Genetics of X-Linked Alport Syndrome (Acta Biomedica Lovaniensia) by Caiying Guo, 1995-11
  3. Familial nephritis: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Maria, PhD Basile, 2005
  4. Hereditary nephropathy with hearing loss: "Alport's syndrome" (Acta paediatrica Scandinavica : Supplement) by Ulla Marianne Iversen, 1974

61. Dysmorphic Child Referral Guidelines
and hematuria in alport syndrome, the need for valve prolapse in Marfan syndrome,recurrent otitis genetics/DYSMORPHOLOGY SPECIALTY REFERRAL (In Developmental
Attention Deficit Hyperactivity Disorder Cerebral Palsy Chromosomal Disorder Dysmorphic Child Malformation Syndrome Myelodysplasia Sensory Impairment, Profound Ventriculoperitoneal Shunts ... MAMC Intranet or WRMC Internet Referral Guidelines Guideline Updated: October 2001 Specialty: Developmental Pediatrics
Dysmorphic Child Referral Guideline
  • Major and/or minor congenital malformations. A congenital malformation defined as major if it is of medical and/or cosmetic significance (e.g., cleft lip/cleft palate, congenital heart defect, hydrocephalus, hemihypertrophy, etc.). A minor congenital anomaly is one with little or no medical or cosmetic significance (e.g., fifth finger clinodactyly, single transverse palmar crease, and partial 2-3 syndactyly of the toes).
Initial Diagnosis and Management
  • Based upon the pregnancy history, family history, medical/surgical history, and physical examination, the diagnosis of a certain specific multiple malformation syndrome may become obvious. In many cases, however, it is difficult to definitively establish a recognizable syndrome for the child's physical and developmental findings.

62. JN 2002; Vol.15 N°3: 320-323
Molecular genetics has considerably clarified the field of hereditary nephritis MYH9disease ) must be clearly differentiated from alport syndrome (type IV
Table of Contents Case report J NEPHROL 2002; 15: 320-323 Hereditary nephritis with macrothrombocytopenia: Phenotypic variety and the genotypic defect Carlo Basile , Palmira Schiavone , Laurence Heidet Division of Nephrology, Hospital of Martina Franca - Italy ABSTRACT: A number of patients present to nephrologists with end-stage renal failure of unknown cause and many have small kidneys, making renal biopsy inadvisable. A small number may have clues to the diagnosis of hereditary nephritis, as in the patient we present here.
In conclusion, this case serves to remind us: 1) that in patients presenting late to nephrologists with bilateral small kidneys, the diagnosis can still be made in some instances on the basis of other clinical signs known to be associated with recognized inherited syndromes; 2) that there are various types of inherited thrombocytopenia associated with nephritis; screening for nephritis is mandatory in all of them. Key words: Alport syndrome, Epstein syndrome, Hereditary nephritis, Macrothrombocytopenia, May-Hegglin anomaly, MYH9 gene Introduction
A number of patients present to nephrologists with end-stage renal failure of unknown cause and many have small kidneys, making renal biopsy inadvisable. A small number may have clues to the diagnosis of hereditary nephritis. The importance of making a diagnosis relates not only to the patient's own prognosis but also permits screening and counselling of relatives, to avoid the late presentation as in the patient we present here.

63. Speech Pathology Items Sorted Alphabetically
Molecular Pathology and genetics of alport syndrome(Contributions to Nephrology, Vol 117) items.
Speech Pathology
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Molecular Pathology and Genetics of Alport Syndrome (Contributions to Nephrology, Vol 117)
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65. Genetics And Hearing Loss
genetics and Hearing Loss. cysts in the neck and kidney anomalies; Waarenburg syndromemay be of hair, and wide spaced eyes; and alport syndrome may result in
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Genetics and Hearing Loss
Hereditary factors account for about 50% of children with a moderate to profound hearing loss. Genetic counseling and genetic testing to determine the cause of a child's hearing loss and to supply information for the family is important for management of health problems which may accompany hearing loss. Genetic information is useful because some syndromes associated with deafness may have other health issues. For example, a deaf child with Usher syndrome may develop retinitis pigmentosa causing night blindness; Pendred syndrome is associated with a goiter; BOR syndrome or Melnick-Frase syndrome may cause ear pits, cysts in the neck and kidney anomalies; Waarenburg syndrome may be associated with heterochromia (eyes with different colors), white forelock of hair, and wide spaced eyes; and Alport syndrome may result in progressive kidney disease. Jervell Lange-Nielsen (JLN) syndrome is another example of a condition that emphasizs benefits of genetic testing. Children with JLN syndrome may develop heart disease and a prolonged QT interval on EKG reading. Thus, there are many genetic diseases with or without associated findings which may cause hearing loss with or without a positive family history. Therefore, early detection of a hearing loss in a child who inherited a syndromic form of hearing loss provides an opportunity to prevent or control other symptoms related to the hearing loss. The vast majority of inherited types of hearing loss are not associated with a syndrome(1) of other health problems but a careful analysis of the family history and clinical examination may be needed. Some parents may also benefit from genetic counseling in understanding the possibilities of hearing loss in future children or their risk of inheritance of genetic conditions in which hearing loss is a feature.

66. Info Spec'99
and the alport syndrome, which again involves many genes. Even whether a gene isdominant or recessiveone of the die-hard concepts in medical genetics-needs
Royal College of Physicians and Surgeons of Canada
Collège royal des médecins et chirurgiens du Canada
Annual Meeting
Assemblée annuelle Cancer patients looking for a leader Cancer patients need someone to take up a leadership role so as to provide them with the best possible care. Surgeons are in a good position to provide that leadership, according to Dr. Murray Brennan, Benno C. Schmidt Chair of Clinical Oncology, Memorial Sloan-Kettering Cancer Center, New York. As Dr. Brennan pointed out in a preview of his wide-ranging CAGS lecture, cancer patients have all sorts of specialists, especially in the U.S., but nobody is in charge, "so they get lost." Should the surgeon wish to pick up responsibility for cancer patients, that responsibility must come with an understanding that his or her leadership role must be disease-based, not discipline-based, knowledge-based, or technique-based. An ideal way to begin acquiring that knowledge is to establish data bases of patients with specific types of cancer so that the disease can be fully understood in all of its manifestations from etiology to outcome. "Before we start [treating a patient with cancer], we have to know what the treatments are and what the alternatives are, and we have to be willing to take care of patients whenever the treatment we use doesn't work," he added. Making matters worse, most of the changes taking place in medicine today are "patient-unfriendly."

67. Platelet Disorders | Types Of Inherited Thrombocytopenia
Nature genetics 26(1) 106108); alport syndrome Giant platelets associatedwith hearing loss and kidney problems, also caused by mutations of MYH9.

Inherited Thrombocytopenia
Autosomal Dominant Sex-Linked Recessive ... Inherited Thrombocytosis
I N H E R I T E D T H R O M B O C Y T O P E N I A Autosomal Dominant
Can be passed from a single parent to child, equal risk for boys and girls. One in two chance of each child being affected.
  • May-Hegglin Anomaly : Asymptomatic, giant platelets , white blood cell inclusions. Mutations of a non-muscle myosin gene on chromosome 22 ( ) have recently been identified as the cause of May-Hegglin Anomaly as well as the related Fechtner and Sebastian syndromes. (Kelley et al. Nature Genetics Alport Syndrome : Giant platelets associated with hearing loss and kidney problems, also caused by mutations of MYH9. Thrombocytopenia with normal size platelets : Linked to an unknown gene on chromosome 10 (Drachman et al. Blood 96(1): 118-125; Savoia et al. American Journal Of Human Genetics Paris-Trousseau thrombocytopenia : Small megakaryocytes Mediterranean Thrombocytopenia : Usually asymptomatic, frequently due to mutations in SPIb gene; when both copies of this gene are mutated the more severe Bernard Soulier Syndrome occurs (see below).

68. Mm1,1lect
9.15 am genetics of renal disease (FF) Learning objectives To consider the value bereviewed in relation to a clinical and genetic study of alport's syndrome.,1lect.htm
Molecular Medicine
Monday 9 November 9.15 am Human cytogenetics and its relevance to genetic services (PC) Learning objectives:
  • To consider the clinical situations in which cytogenetic analysis is appropriate, and how results of analysis can be used in risk estimation. To understand the relationship between chromosomal defects and phenotypic abnormality. To be familiar with the clinical phenotype associated with the most commonly occurring cytogenetic abnormalities. To consider the importance of chromosome analysis in the diagnosis and monitoring of cancer patients, especially those with leukaemia.
  • 11.00 am Genetic counselling 1 (AL) Learning objectives:
  • To understand the definition of genetic counselling and its nature as a process. To learn about the organisation of clinical genetics within the UK. To learn about the roles within the multidisciplinary team in clinical genetics. To appreciate the range of clinical problems with which families present. To consider some basic skills and approaches to information-giving and counselling in the genetics clinic.
  • 69. Medical Genetics Publications
    Nature genetics 2000; 24 4548. Autosomal dominant alport syndrome caused bya COL4A3 splice site mutation. Kidney International 2000; 58 1870-1875.

    70. Yo Mama
    Often the transplanted kidney is rapidly rejected in such cases. Genetic CounsellingAs outlined above, the genetics of alport syndrome is complex.
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    Look! Ducks! On a lake! Ahhh!!
    2 boxes of chocolate creams with jimmies a box of maple bearclaws one raspberry swizzle twist two boxes of jelly donuts I'm ordering extra jelly donuts because they're Agent Cooper's favorite you know my aunt I told you about with the raccoons She liked jelly donuts they were her favorite but she doesn't remind me at all of Agent Cooper Her son, though, does
    Our friend Melissa is losing her hearing because of the effects of Alport Syndrome. She lost most of her hearing when she was very young so she did have a working hearing aid once, not long ago... but her beagle Blake decided it would fit better in his mouth than Melissa's ear...
    and he made it his snack...
    Unfortunately insurance does not cover the costs of a hearing aid (since they run somewhere around $3000-$4000 new) so now she is stuck with a munched on doggy-snack for a hearing aid!
    Since Blake took a bite out of it, her hearing aid barely works at all and it is very hard for her to hear most things at a normal volume... with your help we hope to spread the word about Aloprt Syndrome and raise money enough to get Melissa a brand-spanking new hearing aid one of these days!
    A familial nephritis characterized by hematuria, progressive renal failure, neurosensory hearing loss, and ocular abnormalities.

    71. Untitled Document
    Shows TB Molecular genetics of alport syndrome. Kidney int 1993;4338-44.
    Ancora oggi rimane dubbia la esistenza di una forma autosomica dominante di Sindrome di Alport. Con il progredire della malattia compare assai frequentemente l'ipertensione arteriosa. Le caratteristiche delle differenti mutazioni presentate dal gene che codifica la sintesi della catena A5 del collagene IV rendono conto delle diverse caratteristiche del quadro clinico presentato dai singoli pazienti e dai loro familiari. I recenti progressi di biologia molecolare relativi allo studio genetico della sindrome di Alport, possono spesso permettere una diagnosi diretta di malattia per mezzo della identificazione della specifica mutazione presentata dai pazienti. BIBLIOGRAFIA 1-Sessa A, Renieri A, Battaglia C: Alport syndrome: clinical molecular and genetic aspects. J Nephrol 1994;7:102-116 2-Sessa A, Meroni M, Battini G: Hereditary nephritis. Contributions to Nephrology 1990;80:1-165 3-Tryggvason K, Zhou J, Hostikka S L, Shows T B: Molecular genetics of Alport syndrome. Kidney int 1993;43:38-44

    72. Pendred Syndrome
    Oxford Monographs on Medical genetics No. physiological, and molecular defects inthe inner ear of a geneknockout mouse model for autosomal alport syndrome.
    Current Feature in TBASE
    by Anna V. Anagnostopoulos JANUARY 2001 [Image taken from: NCBI: Genes and Disease
    Pds Knockouts: A Mouse Model for Pendred Syndrome
    Alternative names for the human Pendred syndrome THYROID HORMONOGENESIS, GENETIC DEFECT IN, IIB
    PENDRIN, INCLUDED OMIM - Clinical Synopsis of Pendred Syndrome
    January 2001 features mice harboring a targeted disruption of the gene ( also known as Pds for Pendred syndrome ), which encodes the solute carrier family 26, member 4. Everett et al. report that ultrastructural characterization of Pds homozygous null mice provides significant clues about the aetiology of deafness in Pendred syndrome . Whereas Pds (+/-) mice enjoy an intact auditory system, Pds (-/-) knockouts are deaf and display circling behavior and severe head-tilting as well as profound inner-ear abnormalities and vestibular dysfunction that mimic the anatomic defects encountered in humans with PDS mutations ( for further information visit

    73. The Infography About Alport's Syndrome
    Karl Tryggvason, editor. Molecular Pathology and genetics of AlportSyndrome, Contributions to Nephrology (Contrib. Nephrol.
    Search The Infography:
    Alport's Syndrome
    A professor whose research specialty is Alport's Syndrome recommends these sources.
    Six Superlative Sources
    CL Atkin. Alport Syndrome Home Page 1/96 to present. MC Gregory, CL Atkin. Alport's Syndrome, Fabry's Disease, and Nail-Patella Syndrome, chapter 19 in RW Schrier, CW Gottschalk (editors), Diseases of the Kidney, 6th ed, Little, Brown and Co., pp. 561-590, 1997. ISBN 0-316-77456-1. Clifford E. Kashtan. Alport Syndrome and Thin Glomerular Basement Membrane Disease, Disease Of The Month in Journal of the American Society of Nephrology, Volume 9, pages 1736-1750, September 1998. Karl Tryggvason, editor. Molecular Pathology and Genetics of Alport Syndrome, Contributions to Nephrology (Contrib. Nephrol. Basel), Volume 117, S. Karger AG, Basel, 1996. Karl Tryggvason. Basement Membrane Diseases Search The Infography
    Advanced Search
    Page Through The Infography Alphabetically Algebras of Smooth Functions
    Alport's Syndrome
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    published by Fields of Knowledge
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    74. EDU2 : Level 3
    alport syndrome Home Pageclinical genetics; Asthma Gene Database; Atlasof genetics and Cytogenetics in Oncology and Haematologyand much more;
    ABCentral Search Helpers Submit a Link ...
  • A Xenopus laevis database :and genes
  • ANEX - Laboratory Animal Data Base (English)
  • An Anopheles Database:genetics
  • Animal Genome Database in JAPAN ...
  • cattle Genome Map Table of Contents *DEVELOPMENTAL*
  • Bio 185L Experiments in Development and Molecular Genetics
  • Davidson Development lab:gene
  • Developmental Genome Anatomy Project:human
  • Mitosis and Cytokinesis Lab:hs ...
  • Wnt genes:and embryogenesis *DROSOPHILA*
  • Berkeley Drosophila Group
  • European Drosophila Genome Project
  • FlyView Home:drosophila genetics
  • Lucchesi Lab Research Interests:gene regulation in drosophila ...
  • The Interactive Fly: A cyberspace guide to Drosophila development:gene *ELEGANS*
  • Caenorhabditis Genetics Center Home Page
  • Caenorhabditis Genetics
  • The Blaxter nematode Lab at ICAPB:nematode genetics
  • Wadsworth's Wonderful Worms:elegans *HUMAN*
  • Biobase / Julio Celis Database :Danish human genome research
  • CHROMOSOME 16 - Center for Human Genome Studies, Los Alamos
  • Center for Human Genome Studies Home Page
  • Chromosome 21 Project ...
  • stanford human genome center *MEDICAL GENETICS*
  • A Collaborative Study of the Genetics of Anorexia Nervosa and Bulimia Nervosa
  • A3243G :human gene and med
  • Alport Syndrome Home Page:clinical genetics
  • Asthma Gene Database ...
  • Center for Medical Genetics - Marshfield, WI USA
  • 75. Bioethics In Asia
    Health, Federal Ministry of Health 7 Federal Medical genetics Centres 10 RegionalMedical genetics Centres 70 Medical genetics Units in alport syndrome M 14.
    pp. 268-270 in Bioethics in Asia Editors: Norio Fujiki and Darryl R. J. Macer, Ph.D.
    Eubios Ethics Institute
    All commercial rights reserved. This publication may be reproduced for limited educational or academic use, however please enquire with the author. 8.2. Medical Genetic Services in Russia V. I. Ivanov Research Centre for Medical Genetics, Moscow, Russia Russia occupies an area of some 170 millions sq. km. populated by about 150 million inhabitants belonging to more than 120 national and ethnic groups, some of which differ essentially in language, life style, culture, religion, etc. (Table 1). About a quarter of the total population belongs to rural residents. Overall birthrate is about 1.2 millions of newborns per year. The European part of Russia is by an order of magnitude more densely inhabited than the Asiatic one is. Especially scarce is the population of North-East Asiatic arctic and subarctic regions. The above features, as well as uneven and scarce geographical distribution of settlements, great distances between them set serious problems in communication and provision of services. Table 1 : Some data on the population of Russia Table 2 : Medical genetics services in Russia.

    76. REFERENCES [J. Biochem. Vol. 128, Pp. 427-434 (2000)]
    Histochem. Cell Biol. 110, 359366 Medline; Tryggvason, K. (1996) MolecularPathology and genetics of alport syndrome, Karger, Stockholm;
  • Rohrbach, D.H. and Timpl, R. (1993) Molecular and Cellular Aspects of Basement Membranes , Academic Press, London
  • Timpl, R. and Brown, J.C. (1996) Supramolecular assembly of basement membranes. Bioassays
  • Kreis, T. and Vale, R. (1999) Guide Book to the Extracellular Matrix and Adhesion Proteins , CRC Press, Boca Raton, FL
  • Junqueira, L.C., Carneiro, J., and Kelley, R.O. (1992) Basic Histology,
  • Sado, Y., Kagawa, M., Naito, I., Ueki, Y., Seki, T., Momota, R., Oohashi, T., and Ninomiya, Y. (1998) Organization and expression of basement membrane collagen IV genes and their roles in human disorders. J. Biochem. [Medline]
  • Hudson, B.G., Reeders, S.T., and Tryggvason, K. (1993) Type IV collagen: structure, gene organization, and role in human diseases. Molecular basis of Goodpasture and Alport syndromes and diffuse leiomyomatosis. J. Biol. Chem. [Medline]
  • Genersch, E., Eckerskorn, C., Lottspeich, F., Herzog, C., Kuhn, K., and Poschl, E. (1995) Purification of the sequence-specific transcription factor CTCBF, involved in the control of human collagen IV genes: Subunits with homology to Ku antigen. EMBO J.
  • 77. Usher Materials - Medical - 27 Records
    Review articles identified include a review of alport syndrome andthe clinical and molecular genetics of Usher syndrome. Clinical
    DB-LINK Home To print this document, you may want to switch to the text only version.
    The National Information Clearinghouse On Children Who Are Deaf-Blind
    About DB-LINK
    DB-LINK Publications

    DB-LINK Databases

    Selected Topics
    Search the DB-LINK Website
    Updated 02/2003
    Usher Syndrome - Medical
    This is only a partial listing from the DB-LINK database. If you are unable to locate the information you need, please contact DB-LINK, (800) 438-9376 or (800) 854-7013 (TTY). Study Shows Vitamin A Slows Blindness: RP Foundation Launches Worldwide Education Campaign / RP Foundation Fighting Blindness. RP Foundation Fighting Blindness News, June 14, 1993, 1993. This announcement advocates taking 15,000 IU of vitamin A (and avoiding high doses of vitamin E) as the first useful treatment that may help people with RP to prolong their vision. Patients and health care professionals are advised to contact the RP Foundation for complete information at 1-(800) 683-5555. Defective Myosin VIIA Gene Responsible for Usher Syndrome Type 1B: Weil, Dominique;Blanchard, Stephane;Kaplan, Josseline;Guilford, Parry;Gibson, Fernando;Walsh, James;Mburu, Philomena;Varela, Anabel;Levilliers, Jacqueline;Weston, Michael D.;Kelley, Phillip M.;Kimberling, William J.;Wagenaar, Mariette;Levi-Acobas, Fabienne;Larget-Piet, Dominique;Munnich, Arnold;Steel, Karen P.;Brown, Steve D. M.;Petit, Christine. NATURE, vol. 374, March 2, 1995, pp. 60-61., 1995.

    78. Useful Links
    alport syndrome Home Page http// Registry http//; com/hotsprings/2179;Joubert syndrome Foundation Corp

    interstate Australasian genetic service
    genetic societies support group sites some genetic educational sites ...
    Useful links
    General Website Links

    79. Arch Ophthalmol -- Page Not Found
    and Ultrastructural Confirmation of alport syndrome in the Lens of Apraclonidinein Horner syndrome Jose Morales FULL TEXT PDF Ophthalmic Molecular genetics.
    Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery MSJAMA Science News Updates Meetings Peer Review Congress
    The page you requested was not found. The JAMA Archives Journals Web site has been redesigned to provide you with improved layout, features, and functionality. The location of the page you requested may have changed. To find the page you requested, click here HOME CURRENT ISSUE PAST ISSUES ... HELP Error 404 - "Not Found"

    80. Department Of Population Genetics, Genomics & Bioinformatics, Members
    number ++31 43 3881167 Function B.Sc. Student Email olaf.brouwers@gen.unimaas.nlHomepage no entry. Current work alport syndrome.

    Name: O. Brouwers
    Adress: Universiteitssingel 50
    Room number: 5.144
    Telephone number: ++31 43 3881167
    Function: B.Sc. Student
    Homepage: [no entry] Current work:
    • Alport syndrome

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