61. GeneClinics: Diseases And Overviews Syndrome Alexander Disease AlphaMannosidosis Alpha-Thalassemia X-Linked MentalRetardation Syndrome Alport Syndrome alstrom syndrome Alzheimer Disease http://www.geneclinics.org/profiles/

Funded by NIH, HRSA, and DOE Index of Review Titles The following is a list of titles of reviews in the GeneReviews database. If your search term is not listed below, try searching for your term. A B C D ... Contact Us Children's Health System and University of Washington, Seattle Funding Support National Institutes of Health Health Resources and Services Administration US Department of Energy Technical Support University of Washington Seattle, Washington Administrative Support University of Washington School of Medicine Children's Hospital Regional Medical Center Seattle, Washington

62. University Of Leeds - Molecular Medicine Unit We have other areas of interest within the group and are currently seeking the genesfor; alstrom syndrome (causing progressive blindness, deafness, obesity http://www.leeds.ac.uk/medicine/res_school/mol_med/res_woods.htm

Dr. Geoff Woods Neuro-developmental Group Group Leader: Dr. Geoff Woods Clinical Geneticist Related publications Personnel Senior Post-doctoral Researcher Microcephaly Dr Emma Roberts Technician Microcephaly Daniel Hampshire Technician Microcephaly Kelly Springell Visiting Researcher Microcephaly Gabriela Ferraz Leal Post-doctoral Researcher Alstrom Dr Jacquelyn Bond Research Assistant Progeria Meera Mahadevan Clinical Geneticist Aicardi Goutieres Dr Yanick Crow Sequencing technician shared with Professor C Inglehearn's team Sheila Scott P/T Research Co-ordinator in Pakistan shared with Professor C Inglehearn's team HussainJafri P/T Research Co-ordinator in Yorkshire shared with Professor RF Mueller SaghiraMalik Research Interests The principle interest of our group is primary microcephaly. People whose head size (and hence brain size) is substantially below normal have micrcoephaly. Of the many causes of microcephaly there is a group of autosomal recessive disorders called the "Primary Microcephalies". In primary microcephaly the structure of the brain is normal but the cerebral cortex is reduced in surface area to 50%-60% of normal. The affected individuals have moderate mental retardation but no physical retardation (no cerebral palsy). Our strategy has been to ascertain and clinically characterise consanguineous families of Northern Pakistani origin with primary microcephaly and to use autozygosity mapping to either find novel loci or determine if families are linked to known loci. We then seek common haplotypes between families linked to the same locus and finally use sequencing to find pathogenic mutations in candidate genes.

63. UK Self Help Groups: A Alpha Thalassaemia. ATRX Support Group. alstrom syndrome. alstrom syndrome UK, Tel01803 524 238. Alternating Hemiplegia. Alternating Hemiplegia, Tel 01753 546 268. http://www.ukselfhelp.info/a.htm

Main Index IMPORTANT - Please use www.ukindex.info and/or the links at the foot of this page to help maintain this free resource. Abducted Children contact Both Parents Forever , Tel 01689 854 543 also REUNITE (International Child Abduction Centre) Abortion see under Pregnancy Abuse Action on Elder Abuse , Tel 020 8764 7648/Helpline 0808 808 8141 Voice UK , Tel 01332 202 555 Achondroplasia contact Bone Dysplasia Group c/o Child Growth Foundation , Tel 020 8995 0257 also Restricted Growth Association Acne Support Group , Tel 020 8841 4747 Click here for books about Acne Acoustic Neuroma BANA (British Acoustic Neuroma Association) , Tel 01623 632 143 also , Tel 01953 860 692 Acromelagy contact Pituitary Foundation , Tel 0870 774 3355 Acute Anxiety Disorder see under Phobia Acute Idiopathic Polyneuritis contact GBS Support Group , Tel 01529 304 615/Helpline 0800 374 803 Adams-Oliver Syndrome Adams-Oliver Syndrome Society , Tel 029 2056 1388 Addison's Disease Addison's Disease Self Help Group , Tel 01483 830 673 Additives Additives Survivors Network Adipogenital Syndrome contact LMBBS , Tel 01892 685 311 Adoption and Fostering/Adopted Adults/Natural Parents Adoption UK , Tel 01295 660 121/Helpline 0870 7700 450 BAAF Adoption and Fostering , Tel 020 7593 2000 Fostering Network , Tel 020 7620 6400 Natural Parents Network , Tel 01273 307 597 NCH Action for Children , Tel 020 7704 7000 NORCAP , Tel 01865 875 686 Post Adoption Centre , Tel 020 7284 0555

64. Ctitle Researchers at Southampton University have identified the gene responsiblefor alstrom syndrome, a disorder that can be fatal in children. http://www.foot.com/info/info_news_archive.jsp?article=1217

65. Useful Information & Contacts uk/. Stickler Syndrome Support Group, 020 8977 5991, Thyroide EyeDisease Association, 01626 852 980, alstrom syndrome UK, 01803 524238, http://www.site4sight.org.uk/PatientInfo/General/Useful.htm

You Are Here : The O.R.N. Home Information For Health Search This Site CONTACTS SELF HELP GROUPS Organisation Telephone Number Web Address CATS Eyes www.cats-eyes.freeserve.co.uk The Dystonia Society www.dystonia.org.uk Aniridia Network www.aniridia-network.net British Diabetic Association http://www.diabetes.org.uk National Diabetic Retinopathy Network Macular Disease Society http://www.maculardisease.org International Glaucoma Association http://www.iga.org.uk British Retinitis Pigmentosa Society http://www.brps.demon.co.uk/ Albinism Society Nystagmus Network http://www.btinternet.com/~lynest/nystag01.htm National Federation of the Blind Partially Sighted Society Guide Dogs for the Blind Association Under construction Royal National Institute for the Blind The Royal London Society for the Blind Opportunities for People with Disabilities The Foundation for Communication for the Disabled Action for Blind People http://www.afbp.org/

66. SearchUK alstrom syndrome Contains information about this syndrome, medical references,International Society for alstrom syndrome Families (SASF), and other resources http://www.searchuk.co.uk/Top/Health/Conditions_and_Diseases/Rare_Disorders/Alst

SearchUK http://searchuk.co.uk/

67. Members Click on the icon for information. Action for ME Action on Pain Alpha 1 AwarenessAlliance alstrom syndrome UK Arthritis Care Autism Unravelled. http://www.lmca.demon.co.uk/docs/members.htm

LIST OF LMCA MEMBERS How to join LMCA About LMCA LMCA Factsheet How to join List of Member Organisations ... Annual Review 2000 View/save the Annual Review 2000 as a PDF file. View + print the Application Form You need the programme Adobe Acrobat Reade r to view PDF files. Click on the icon for information. Action for ME Action on Pain Alpha 1 Awareness Alliance Alstrom Syndrome UK Arthritis Care Autism Unravelled BackCare ... Epilepsy Action Fellowship of Depressives Anonymous Fibromyalgia Association UK Gauchers Association Gorlin Syndrome Group Grown Up Congenital Heart Patients Association ... IBS Network Incontact (National Action on Incontinence) Insulin Dependent Diabetes International Glaucoma Association Interstitial Cystitis Support Group Juvenile Diabetes Foundation (UK) ... Lincolnshire Post-Polio Network LINK Centre for Deafened People Lupus UK Lymphoedema Support Network Macmillan Cancer Relief Manic-Depression Fellowship Marfan Association UK ... ME Association Meniere's Society

68. Educational Psychologist http//lena.jax.org/alstrom/, alstrom syndrome. http//www.fraxa.org/,Fragile X. http//www.findinfo.com/tourettes.htm, Tourette's Syndrome. http://www.educational-psychologist.co.uk/syndrom.htm

Syndromes http://www.rarediseases.org/ National Organization for Rare Disorders, a very useful site. http://www.cafamily.org.uk/home.html CAF directory on rare disorders, used by many professionals. http://www.hhmi.org/GeneticTrail/ Site dealing with genetic disorders http://home.wanadoo.nl/euro-ataxia/ Deals with hereditary ataxias deafblindscotland.org.uk/info/usher/ Usher Syndrome http://www.williams-syndrome.org/ Williams Syndrome pwsa-uk.demon.co.uk/index Prader-Willi Syndrome paston.co.uk/users/maygurney/dsa.html Support group for parents with young Downs Syndrome children http://lena.jax.org/alstrom/ Alstrom Syndrome http://www.fraxa.org/ Fragile X http://www.findinfo.com/tourettes.htm Tourette's Syndrome http://www.nfa.zetnet.co.uk/ Neurofibromatosis www.specialyoga.com Yoga for children with Down's Syndrome http://www.tourettesyndrome.co.uk/ A really wnderful site run by a family dealing with Touretts Syndrome If you find the information you are looking for but are confused as to how this may be implemented in your child's classroom we offer advice via e-mail seek advice.

69. Nohmlgwithhits 7401, 1, USH3A, Usher syndrome, type 3, 606397, 3, 3q21q25, Usher syndrome3A. 7840, 1, ALMS1, alstrom syndrome, 606844, 3, 2p13, alstrom syndrome1. http://fantom2.gsc.riken.go.jp/supplement/disease_genes/nohmlgwithhits.html

Human Disease Genes with no Mouse Orthologs with hits in the FANTOM2 set Human LocusID number of clones Human Gene Symbol Phenotype OMIM GI Human Chromosomal Position Human Gene Name (Disease Name) Pseudo-Zellweger syndrome acetyl-Coenzyme A acyltransferase 1 (peroxisomal 3-oxoacyl-Coenzyme A thiolase) ACACA Acetyl-CoA carboxylase deficiency acetyl-Coenzyme A carboxylase alpha Alcoholism, susceptibility to alcohol dehydrogenase IB (class I), beta polypeptide Bardet-Biedl syndrome 4 Bardet-Biedl syndrome 4 BLMH Alzheimer disease, susceptibility to bleomycin hydrolase C1r/C1s deficiency, combined complement component 1, s subcomponent C8 deficiency, type I complement component 8, alpha polypeptide Ceroid-lipofuscinosis, neuronal-5, variant late infantile ceroid-lipofuscinosis, neuronal 5 Methemoglobinemia due to cytochrome b5 deficiency cytochrome b-5 CYLD Cylindromatosis, familial cylindromatosis (turban tumor syndrome) Warfarin sensitivity cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9 SARDH Sarcosinemia sarcosine dehydrogenase DPYD Thymine-uraciluria dihydropyrimidine dehydrogenase Factor XIIIA deficiency coagulation factor XIII, A1 polypeptide

70. Alstrom Syndrome alstrom syndrome. A Medical Encyclopedia Maryland Medical System. A resourcewith information on over 4000 medical topics including alstrom syndrome. http://www.bloodandmarrowtransplant.com/medical-terms/04180.htm

Alstrom syndrome A Medical Encyclopedia Article provided by Maryland General Hospital A resource with information on over 4000 medical topics including: Alstrom syndrome Previous Next

71. Surgery Door Support Groups ALPHA 1 AWARENESS ALLIANCE. alstrom syndrome UK. alstrom syndrome UK. ALTERATINGHEMIPLEGIA SUPPORT GROUP. ALTERATING HEMIPLEGIA SUPPORT GROUP. AMNEASIER. http://www.surgerydoor.co.uk/sg/detailtest.asp?keyword=RARE SYNDROME

72. Surgery Door Support Groups ALBINISM FELLOWSHIP. ALBINISM FELLOWSHIP. alstrom syndrome UK. ALSTROMSYNDROME UK. ALZHEIMER'S RESEARCH TRUST. ALZHEIMER'S RESEARCH TRUST. http://www.surgerydoor.co.uk/sg/detailtest.asp?keyword=GENETICS

73. Subject Topics Alkalosis/Alkalemia/Baseosis ?/? Allergies Alport SyndromeAlport ? alstrom syndrome Alstrom ? Alzheimer's Disease http://www.kingdoctor.com/cgi-bin/showtopic.asp?topic=A

74. CMGS-Wolfram Syndrome/11.2.99 The association of DM and optic atrophy also occurs in Friedrich's ataxia,Refsumdisease, alstrom syndrome, Lawrence Moon syndrome, Kearn- Sayre syndrome and http://www.ich.ucl.ac.uk/cmgs/wolfram.htm

Wolfram Syndrome Wolfram syndrome is an autosomal recessive disorder characterised by juvenile-onset diabetes mellitus and optic atrophy. The acronym DIDMOAD is used to describe the syndrome (diabetes insipidus, diabetes mellitus, optic atrophy and deafness). The median age of death is 30 years (range 25-49 years). Psychiatric disorders have also been associated with Wolfram syndrome. In a study of 68 patients, 60% were reported to have episodes of severe depression, organic psychosis or organic brain syndrome. Presumed carriers may be predisposed to psychiatric illness. Differential diagnosis includes congenital rubella syndrome, Leber's hereditary optic atrophy and thiamine responsive anaemia with DM and deafness. The association of DM and optic atrophy also occurs in Friedrich's ataxia,Refsum disease, Alstrom syndrome, Lawrence- Moon syndrome, Kearn- Sayre syndrome and deafness and diabetes in the 3243 mitochondrial DNA mutation. The estimated prevalence in the U.K. is 1/770,000 with a carrier frequency of 1/354 (lower than the 1/100,00 in the U.S. population but this is probably due to methodological differences) Mapping of the gene Positional cloning was used Using microsatellite repeat polymorphisms reported in the Genethon map of the human genome, the Wolfram gene had been found to be linked to markers on the short arm of chromosome 4 with a maximum LOD score between D4S431-D4S394.

75. A Cash Appeal By The Winchester NewsEXTRA To Help A Five-year-old. Regional Jour target. The story of JohnJames Entwistle, who has alstrom syndrome,was first featured in the NewsEXTRA in November last year. His http://www.holdthefrontpage.co.uk/campaigns/2002/03mar/020316xtra.shtml

HTFP site search Email Login Password New users sign up Regional press campaigns - this story published 16.3.2002 NewsEXTRA doubles pledges by Holdthefrontpage staff A cash appeal by the Winchester NewsEXTRA to help a five-year-old boy suffering from a rare disease has more than doubled its original target. The story of John-James Entwistle, who has Alstrom Syndrome, was first featured in the NewsEXTRA in November last year. His mother, Jane, was appealing for a runner to take part in this year's London Marathon on behalf of her son and other sufferers of this disorder which affects the heart and sight and causes weight problems. As a result of the article, NewsEXTRA reader Richard Marchmont, (24), who had run the marathon twice before, took up the challenge. A target of £1,000 was set, but thanks to a magnificent response from readers it was soon overtaken and the latest count is more than £2,200 pledged for the Alstrom Syndrome UK charity, with money still coming in. Editor Mary Payne said: "Our readers have been fantastic. Some included messages with their cheques saying that they were so touched by the story about John-James that they just had to help."

76. Links To Other WS Sites alstrom syndrome has many of the same symptoms as Wolfram Syndrome,but not the same disease. Links to other Wolfram Syndrome Sites http://www.wolframsyndrome.net/wswsflinks.htm

Thanks for visiting our site, if you are interested in Wolfram Syndrome please visit the following sites, that tell about the disease . Webmaster's note: We appologize if any of these links are no longer accurate. If you find one that is no longer working, please report it to us so we can either correct it, or remove it. Thanks Learning from others with serious conditions: Band-aides and Blackboards This is a great site with information on coping with many aspects of life with a serious condition. Living with chronic conditions - Good advise from the Mayo Clinic Alstrom Syndrome - has many of the same symptoms as Wolfram Syndrome, but not the same disease. Links to other Wolfram Syndrome Sites: Another Note on Genetics of Brain Disorders Linkage of Wolfram syndrome to chromosome 4p16.1 and evidence for heterogeneity. #598500 WOLFRAM SYNDROME, MITOCHONDRIAL FORM Information regarding a second form of Wolfram Syndrome Morbidity and Mortality in the Wolfram Syndrome Brace yourself. This gives you the cold hard facts. Researchers Identify And Isolate First Gene For A Form Of Insulin-Dependent Diabetes This is an excellent Science Daily article on the discovery of WS gene.

77. Useful Links Alport Syndrome Home Page, 4509. alstrom syndrome International Alstroms SyndromeNewsletter, 3020. American Cleft PalateCraniofacial Association (ACPA), http://www.possum.net.au/links.htm

POSSUM News View a demo of POSSUM in action read more... POSSUM 5.6 users running Windows 95/98 read more... Upcoming release - web enabled POSSUM read more... About Find out about the latest version of POSSUM. FAQ Frequently Asked Questions about POSSUM. Order Print an order form and send it to us. Links Discover syndrome web sites using our new list of useful links. Contact Maybe you'd like to tell us what you think about POSSUM, contribute pictures to the POSSUM database, or make some suggestions about how we can improve this website. Useful Links The information listed below is provided for informational purposes only. There is no implied endorsement by POSSUM. POSSUM does not promote or endorse participation in any specific organization. Every effort is made to ensure that the details for each entry are as current as possible. Syndrome Name POSSUM Number Aarskog Syndrome Parents Support Group (USA) Aarskog Syndrome Parents Support Group (UK) Aicardi Syndrome Foundation Alagille Syndrome Alliance ... WAGR/Aniridia Network

78. Questions And Answers CGD RT) 2002 campaign guest charities The Jennifer Trust for Spinal MuscularAtrophy (SMA) The Haemophilia Society alstrom syndrome UK (AS UK) The Ataxia http://www.jeansforgenes.com/2_about/2068_qanda.php

Questions and Answers Jeans for Genes receives many different questions from supporters. Below we have listed the most common questions which we have been asked and which you may also like to know the answers to: Where does the money go? How much goes on costs? There are many genetic diseases, so why does money only go to a small group of charities? Is the appeal just London based? ... I want to help, but I/a colleague isn't sure about giving money to research. Is there another way we can help? Q. Where does the money go? Back to top of page A. The net proceeds from each year's Jeans for Genes Appeal are distributed among a group of charities to invest in research and support services for families. In 2002, the four permanent partner charities, as well as four guest charities, will benefit from the campaign. These are: Permanent Jeans for Genes charities: Great Ormond Street Hospital Children's Charity (GOSHCC) The Primary Immunodeficiency Association (PiA) The Society for Mucopolysaccharide Diseases (MPS) The Chronic Granulomatous Disorder Research Trust (CGD RT) 2002 campaign guest charities: The Jennifer Trust for Spinal Muscular Atrophy (SMA) The Haemophilia Society Alstrom Syndrome UK (AS UK) The Ataxia-Telangiectasia Society (AT) Research: All Great Ormond Street Hospital Children's Charity's proceeds go to its research partner, the Institute of Child Health. The other three permanent partner charities invite grant applications from hospitals across the country, and sometimes from overseas. These are then peer reviewed - assessed by an independent panel of experts - who allocate funds to the projects they consider to be the most appropriate and hopeful for that disease. The guest charities all have specific projects to fund with the proceeds:

79. Alstrom Syndrome Website Results :: Linkspider UK alstrom syndrome Websites from the Linkspider UK. alstrom syndrome Directory.Complete Results for alstrom syndrome Related Topics. http://www.linkspider.co.uk/Health/ConditionsandDiseases/RareDisorders/AlstromSy

Alstrom Syndrome Websites from Linkspider UK Keyword: Alstrom Syndrome Linkspider UK Directory Alstrom Syndrome Search for Directory Tree: Top Health Conditions and Diseases Rare Disorders : Alstrom Syndrome (6) Add URL Advertise Here! Personalize Amazon ... Weather See Also: Health: Conditions and Diseases: Genetic Disorders Alstrom Syndrome - Contains information about this syndrome, medical references, International Society for Alstrom Syndrome Families (SASF), and other resources. Alstrom Syndrome UK Support Group - Information centre and discussion forum for anyone with an interest in this disorder. Alstr¶m Families at SmartGroups - Mailing list and usegroup for people interested in Alstr¶m Syndrome. Provides links, newsletters, message archive and contact to professionals involved with this rare disorder. NORD - Alstrom Syndrome - A general discussion with resources for further reading. Drkoop.com: Medical Encyclopedia: - Information about alstrom syndrome, the causes, risk factors, symptoms, signs and tests, treatment and prognosis. Alstrom Syndrome of Canada - Information and assistance for concerned parents of children with this rare genetic disorder. Information on workshops, conferences, and medical research.

80. Welcome To ENH.org - Health Encyclopedia: Alstrom Syndrome alstrom syndrome. Alternative Names AlstromHallgren syndrome; Alstroem'sretino-otodiabetic syndrome. Causes, incidence, and risk factors http://www.enh.org/Encyclopedia/ency/article/001665.asp

Disease Reference Injury Reference Test Reference Nutrition Reference ... Symptoms Reference Alstrom syndrome Disease Injury Nutrition Poison ... Z Definition: an inherited disease characterized by progressive blindness juvenile onset diabetes mellitus, obesity deafness , and normal mental capacity. Alternative Names: Alstrom-Hallgren syndrome; Alstroem's retino-otodiabetic syndrome Causes, incidence, and risk factors: This is an autosomal recessive , inherited disorder. It is extremely rare. The syndrome has a higher incidence in Holland and Sweden. Symptoms: Blindness or severe vision impairment in infancy Symptoms of juvenile onset diabetes mellitus Obesity Deafness Dark patches of skin (acanthosis nigricans) Small penis Signs and tests: The eyes are examined by an ophthalmologist (standard ophthalmic examination). Blood tests, such as a chem-20 , may show an elevation of serum triglycerides and hyperglycemia (high blood sugar). Urine tests may show an increase in uric acid levels. Treatment: There is no treatment for this syndrome. Expectations (prognosis): Permanent blindness is likely to develop.

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