21. Alstrom Syndrome UK - Patient UK alstrom syndrome UK Patient UK. A directory of UK health, disease, illness andrelated medical websites that provide patient information. http://www.patient.co.uk/showdoc/26740358/

Alstrom Syndrome UK 49 Southfield Avenue Paignton Devon Tel: 01803 524238 Fax: 01803 524238 Web: www.alstrom.org.uk Best time to telephone: any time (answerphone operates) Alström Syndrome (AS) is a hereditary and very rare disorder which begins to take effect during early childhood. Alstrom Syndrome UK was set up by two parents of affected children. The group combines its aim to reach all affected families in the UK with its desire for high quality medical advice. Features of the group are as follows. Team of medical advisors, including an Opthalmologist, Cardiologist, Geneticists and an RNIB teacher. Family conferences held regularly. Multi-disciplinary clinic held regularly. Affiliated to the International Society of Alstrom Families. Close links with Jackson Laboratory, Maine, USA who are pioneering genetic research into Alström Syndrome. Contact the above address or visit the website for further information. Checked: June 2004 Sponsored links and adverts Patient UK has no control of the content of the following links. Inclusion does not imply endorsement by Patient UK. Health Related Books From Amazon - browse hundreds of books on health and disease. Also, worth a look...

22. Alstrom Syndrome - Patient UK alstrom syndrome Patient UK. A directory of UK health, disease, illness andrelated medical websites that provide patient information. http://www.patient.co.uk/showdoc/40002440/

PatientPlus articles are written for doctors and so the language can be technical. However, some people find that they add depth to the articles found in the other sections of this website which are written for non-medical people. Alstrom Syndrome This autosomal recessive condition is similar to the Bardet-Biedl syndrome (retinitis pigmentosa, deafness obesity , and diabetes mellitus insulin resistance ) - but no mental defect, polydactyly, nor hypogonadism). The gene map locus is 2p13. Features Severe progressive infantile retinal dystrophy (visual acuity of 6/60 or less by 10 years of age and no light perception by age 20) ± nystagmus ; deafness; acanthosis nigricans cardiomyopathy and nephropathy References, footnotes and further reading Alstrom CH, Hallgren B, Nilsson LB Asander H; Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Biedl syndrome. A clinical endocrinological and genetic examination based on a large pedigree. Acta Psychiat. Neurol. Scand.

23. Alstrom Syndrome .Although this disorder bears many similarities (retinitis pigmentosa,......alstrom syndrome. ALMS, 2p13. ALMS1. 203800. 606844, Kim Flintoff. Brief http://leedsdna.info/tests/Alstrom_Syndrome.htm

last update: Disease Names/Indications Locus/Gene(s) OMIM(s) Contact ALSTROM SYNDROME ALMS Kim Flintoff Brief Description Although this disorder bears many similarities (retinitis pigmentosa, deafness, obesity, and diabetes mellitus) to the Bardet-Biedl syndrome (OMIM ), there is no mental defect, polydactyly, or hypogonadism . The retinal lesion causes nystagmus and early loss of central vision in contrast to loss of peripheral vision first, as in other pigmentary retinopathies. Reporting time *WLU per case Level 1 7 linked markers at 2-4 weeks * WLU does not include cost of DNA extraction (32-48 WLU) or report writing. Summary Developed from research interest of Geoff Woods. Microsatellite markers available for linkage, full gene mutation scanning also available. Linked markers: Marker Physical location Golden path website (18/07/02) ALMS(AJ417593) Contact: Kim Flintoff

24. GeneReviews: Alstrom Syndrome Your browser does not support HTML frames so you must view alstrom syndrome ina slightly less readable form. Please follow this link to do so. http://www.genetests.org/query?dz=alstrom

25. Alstrom Syndrome Articles, Support Groups, And Resources alstrom syndrome articles, support groups, and resources for patients from MedHelp International (www.medhelp.org) http://www.medhelp.org/HealthTopics/Alstrom_Syndrome.html

[Health Topics A-Z] A B C D ... Z Alstrom Syndrome Support Groups: Alstrom Syndrome International Med Help International Search Medical Forums / Message Boards ... Site Map Revised: 9/7/2005

26. Detail Sourcebook Listing Title Alstrom Syndrome International , Mutual support and networkingfor families affected by Alstrom s syndrome.......Title, alstrom syndrome International. http://www.medhelp.org/amshc/amshc244.htm

Detail Sourcebook Listing Title: Alstrom Syndrome International Description: Mutual support and networking for families affected by Alstrom's syndrome. Supports medical research intiatives to more fully understand the syndrome's complexities and develop better therapies. Provides information resources to families, educators, researchers and physicians. Scope: International network Number Groups: 4 affiliated groups (Canada, France, Brazil, UK Founded: Address: 14 Whitney Farm Rd. Mount Desert, Maine, 04660 United States Telephone: 1-800-371-3628 or (207)288-6385 Email: jdm@jax.org Web Address: http://www.jax.org/alstrom This information has been generously provided by The American Self Help Clearinghouse and hosted by Med Help International . Please send corrections/updates to admin@selfhelpgroups.org Updated: 02/2005

27. Alstrom Syndrome- Medco.com alstrom syndrome is an inherited disease characterized by progressive blindness,deafness, earlyonset type 2 diabetes mellitus, and obesity. http://www.medcohealth.com/medco/consumer/ehealth/ehsarticle.jsp?topicID=HE:Dise

28. The Health Library — Genetics And Birth Defects alstrom syndrome. alstrom syndromeMedlinePlus Medical Encyclopedia AlstromSyndromealstrom syndrome International alstrom syndromeGenetics Home http://healthlibrary.stanford.edu/resources/internet/bodysystems/genetic_mca_ac.

Diseases and Disorders Use these links to jump directly to your topic of interest in Genetics and Birth Defects: Genetics: General Genetics Gene Therapy Genetic Counseling Genetic Testing ... Genetics of Specific Diseases Birth Defects: General Birth Defects Cardiovascular Defects Connective Tissue Disorders Craniofacial Anomalies ... S - W Multiple Congenital Anomalies (#, A - C) Jump to: A B C D ... P Q R S T U ... W X Y Z 22q11 Deletion What is 22q?:International 22q11.2 Deletion Syndrome Foundation 22q and You Newsletter:Children's Hospital of Philadelphia 22q11.2 Deletion Syndrome:Genetics Home Reference, NLM 22q11.2 Deletion Syndrome:GeneReviews 22q13 Deletion 22q13 Deletion (Phelan-McDermid Syndrome):Chromosome 22 Central 22q13.3 Deletion Syndrome:GeneReviews Alstrom Syndrome Alstrom Syndrome:MedlinePlus Medical Encyclopedia Alstrom Syndrome:Alstrom Syndrome International Alstrom Syndrome:Genetics Home Reference, NLM Alstrom Syndrome:GeneReviews Andersen-Tawil Syndrome Cause of Rare Genetic Disorder Points to Faulty Ion Channel:Howard Hughes Medical Institute Correlation Between Long QT Syndrome And Andersen Syndrome:QTsyndrome.ch Andersen-Tawil Syndrome:Genetics Home Reference, NLM Andersen-Tawil Syndrome:GeneReviews Angelman Syndrome Angelman Syndrome:NINDS Facts About Angelman Syndrome:Angelman Syndrome Foundation Angelman Syndrome:Genetics Home Reference, NLM

29. Alstrom Syndrome UK (Specific Eye Conditions Web Site) alstrom syndrome UK alstrom.jpg (3493 bytes). alstrom syndrome UK, 49 SouthfieldAvenue, Paignton, Devon, TQ3 1LH. Tel +44 (0)1803 524238 EMail http://www.eyeconditions.org.uk/alstrom.htm

SP ecific E ye C ondition S www.eyeconditions.org.uk Alstrom Syndrome UK Alstrom Syndrome UK, 49 Southfield Avenue, Paignton, Devon, TQ3 1LH Tel: +44 (0)1803 524238 E-Mail: info@alstrom.org.uk Website: www.alstrom.org.uk What is Alström Syndrome? Alström Syndrome is a very rare, hereditary genetic disorder comprised of many component conditions, first described by C.H. Alström in Sweden in 1959. The symptoms of the components of the condition arise at different stages making diagnosis difficult. The features of this very complex disorder are childhood blindness, early hearing loss, diabetes, kidney failure and cardiomyopathy, a heart condition which if left untreated can lead to heart failure. Cardiomyopathy may be the first symptom to present with Alström Syndrome, in many of the children with Alström Syndrome cardiomyopathy has presented during the first 6 months of life. What does Alström Syndrome UK do? Alström Syndrome UK has 3 key aims: to alleviate the suffering of those with Alström Syndrome to provide support for them, their carers and the professionals who are working with them

30. Alstrom Syndrome - Overview alstrom syndrome. Alternative names. AlstromHallgren syndrome; Alstroem sretino-otodiabetic syndrome. Definition. an inherited disease characterized by http://www.humed.com/humc_ency/ency/article/001665.htm

Injury Disease Nutrition Poison ... Prevention Alstr¶m syndrome Definition: Alstr¶m syndrome is an inherited disease characterized by progressive blindness deafness , early-onset type 2 diabetes mellitus , and obesity . Intelligence is not affected. Causes, incidence, and risk factors: Alstr¶m syndrome is an autosomal recessive inherited disorder, which means that a person must inherit a copy of the defective gene from both parents in order to be affected. It is extremely rare, but is more common in Holland and Sweden than in the United States. The mutated gene, , was recently identified, but it is not yet known how this gene causes the disorder.

31. Mendelian: Alstrom Syndrome alstrom syndrome further evidence for linkage to human chromosome 2p13 Refinement of genetic localization of the alstrom syndrome on chromosome 2p1213 http://obesitygene.pbrc.edu/cgi-bin/ace/tree/ogm2k?name=Alstrom Syndrome&class=M

32. Alstrom Syndrome Genetics Studied At Jackson Laboratory Scientists at The Jackson Laboratory are working towards identifying the genethat causes Alström Syndrome. The research is providing increased http://www.sciencedaily.com/releases/1998/07/980720081033.htm

@import "/styles/navbar.css"; @import "/styles/tabStyles.css"; Set home page Bookmark site Add search Latest News ... Email to friend Text Size A A A Front Page ... Advertise With Us Source Jackson Laboratory Date Print this page Email to friend Alstrom Syndrome Genetics Studied At Jackson Laboratory Bar Harbor Scientists at The Jackson Laboratory are working towards identifying the gene that causes Alström Syndrome. The research is providing increased understanding of the genetic basis for the disease and may offer fundamental insights into the underlying causes of obesity, diabetes, and sensory defects in humans. Related News Stories (October 19, 2000) full story Knockout Mouse Reveals Genetic Mechanism In Defective Mammalian Ear Developoment (March 2, 1999) full story Oxidants Link Obesity To Diabetes (December 20, 2004) Individuals with the metabolic syndrome are at risk of coronary heart disease, stroke, vascular disease, and type 2 diabetes. Although risk factors for this syndrome are known to include obesity, ... full story (April 2, 1997)

33. PHP : Resource Details alstrom syndrome International information, and coordination worldwide tofamilies and professionals in order to treat and cure alstrom syndrome. http://www.php.com/include/agency/agency_item.php?AgencyID=740&where_keywords=

34. Homozygosity Mapping At Alstrom Syndrome To Chromosome 2p. alstrom syndrome is a rare autosomal recessive disorder characterized by pigmentaryretinal degeneration, sensorineural hearing loss, childhood obesity, http://bioinformatics.well.ox.ac.uk/~lon/Pubs/0009063741.html

Homozygosity mapping at Alstrom syndrome to chromosome 2p. Collin GB, Marshall JD, Cardon LR and Nishina PM Hum Mol Genet Alstrom syndrome is a rare autosomal recessive disorder characterized by pigmentary retinal degeneration, sensorineural hearing loss, childhood obesity, non-insulin-dependent diabetes mellitus, hyperlipidemia and chronic nephropathy. Features occasionally observed include acanthosis nigricans, hypogonadism, hypothyroidism, alopecia, short stature and cardiomyopathy. We report here the results of a linkage study in a large French Acadian kindred, as a first step in identifying the molecular basis of Alstrom syndrome. Evidence of a founder effect made if feasible to use a homozygosity mapping strategy to identify the chromosomal location of the Alstrom gene. In a genome-wide screen, haplotype sharing for a region on chromosome 2 was observed in all affected individuals. Two point linkage analysis resulted in a maximum lod score of 3.84 (theta = 0.00) for marker D2S292. By testing additional markers, the disease gene was localized to a 14.9 cM region on chromosome 2p. University of Oxford Wellcome Trust Centre Bioinformatics Home Publications

35. Birth Disorder Information Directory - A See Fechtner Syndrome. Alstroem s Syndrome. See alstrom syndrome. AlstromSyndrome (Alstroem s Syndrome). alstrom syndrome alstrom syndrome; ALMS1 http://www.bdid.com/defectag.htm

HOME Ag-Am Aganglionosis Total Intestinal Aganglionosis total intestinal AGANGLIONOSIS, TOTAL INTESTINAL Aganthia with Holoprosencephaly and Situs Inversus Aganthia holoprosencephaly situs inversus AGNATHIA-HOLOPROSENCEPHALY Agammaglobulinemia List of Sites Agenesis of the Cerebellar Vermis List of Sites Agenesis of the Corpus Callosum List of Sites Related Books Aglossia Adactylia (Oromandibular Limb Hypoplasia) Aglossia adactylia AGLOSSIA-ADACTYLIA Also see Hanhart Syndrome Agnathia -Holoprosencephaly See Holoprosencephaly-Agnathia Agyria-Pachygyria Type I See Miller-Dieker (Lissencephaly) Syndrome Aicardi Syndrome List of Sites Aicardi-Goutieres Syndrome (Encephalopathy-Basal Ganglia Calcification) Aicardi-Goutieres syndrome Encephalopathy, Familial Infantile, with Calcification of Basal Ganglia and Chronic Cerebrospinal Fluid Lymphocytosis Related Books Cutis verticis gyrata thyroid aplasia mental retardation ... CUTIS VERTICIS GYRATA, THYROID APLASIA, AND MENTAL RETARDATION Aksu Stockhausen Syndrome (Branchial Arch Defects) branchial arch defects Al-Awadi Farag Teebi Syndrome (Primary Hypogonadism with Partial Alopecia) Al awadi farag teebi syndrome HYPOGONADISM, PRIMARY, AND PARTIAL ALOPECIA

36. Alstrom Syndrome Alternative Names. AlstromHallgren syndrome; Alstroem s retino-otodiabetic syndrome The syndrome has a higher incidence in Holland and Sweden. http://www.valleybaptist.net/ency/article/001665.htm

Disease Injury Nutrition Poison ... Prevention Alstrom syndrome 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. Review Date: 6/16/2001 Reviewed By: Elizabeth Hait, M.D., Department of Pediatrics, Rainbow Babies and Children’s Hospital, Case Western Reserve University, Cleveland, OH. Review provided by VeriMed Healthcare Network.

37. Syndrome alstrom syndrome is a very rare condition, with symptoms including childhood The alstrom syndrome UK Support Group aims to alleviate suffering, http://omni.ac.uk/browse/mesh/D013577.html

low graphics Syndrome broader: Disease Alstrom syndrome: UK support group Alstrom Syndrome is a very rare condition, with symptoms including childhood blindness, early hearing loss, diabetes, cardiomyopathy and kidney failure. The Alstrom Syndrome UK Support Group aims to alleviate suffering, and provide support for those with Alstrom Syndrome, and raise public awareness of the condition. This Web site provides information on what Alstrom Syndrome is, the clinical features, a newsletter and current research. A discussion list for anyone with an interest in this topic is also available, which aims to enable clinicians, carer and sufferers to share experiences. Syndrome Genetic Diseases, Inborn Charities GeneReviews : 22q11 deletion syndrome Notes for physicians on 22q11 Deletion Syndrome (Shprintzen Syndrome, DiGeorge Syndrome (DGS), Velocardiofacial Syndrome (VCFS), Conotruncal Anomaly Face Syndrome (CTAF), Caylor Cardiofacial Syndrome, Opitz G/BBB) covering diagnosis, clinical description, differential diagnosis, management, molecular genetics and genetic counselling. Revised during September 1999. This resource forms part of GeneReviews (formerly GeneClinics profile), an expert-authored, peer-reviewed medical knowledge base being developed at the University of Washington.This resource contains a summary and bibliographical references of the review. Lat reviewed in July 2003. Syndrome Gene Deletion Chromosomes, Human, Pair 22

38. *606844 ALMS1 GENE; ALMS1 (1998) refined the localization of the alstrom syndrome locus to 2p13p12 Nearly all individuals with alstrom syndrome develop type II diabetes (125853) http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:606844] -e

39. 203800 ALSTROM SYNDROME; ALMS (1987) stated that cardiomyopathy is not a feature of alstrom syndrome. (1995) described diabetes insipidus in association with alstrom syndrome in a http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:203800] -e

40. Science Blog -- Alstrom Syndrome Genetics Studied At Jackson Laboratory alstrom syndrome Genetics Studied At Jackson Laboratory for Alström familiesand maintains an Alström Syndrome webpage at http//www.jax.org/alstrom. http://www.scienceblog.com/community/older/1998/B/199801545.html

From: Jackson Laboratory Alstrom Syndrome Genetics Studied At Jackson Laboratory http://www.jax.org/alstrom Because of the common ancestor, the researchers believe the five are "homozygous by descent", meaning that they inherited the same form, or allele, of the defective gene from both their mother and father. That characteristic made possible a strategy known as "homozygosity mapping" to identify the gene's location by looking for a chromosomal region that was identical among all five, and always present in two copies. Contact: The Jackson Laboratory Office of Public Information (207) 288-6051 pubinfo@jax.org http://www.scienceblog.com/community

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