NodeWorks - Rare Disorders: Alstrom Syndrome thumbnail, 1. alstrom syndrome Clinical features, literature and research. 4. NORD - alstrom syndrome - Sample report, plus links to organisations. http://dir.nodeworks.com/Health/Conditions_and_Diseases/Rare_Disorders/Alstrom_S
Extractions: in entire NodeWorks Directory in Health in Rare Disorders in ++ Alstrom Syndrome Top Health Rare Disorders Alstrom Syndrome A rare disorder inherited as an autosomal recessive genetic trait. Characteristic features of this disorder include progressive loss of vision and hearing beginning in early childhood, diabetes mellitus, and obesity. Alstrom Syndrome Clinical features, literature and research. Includes guidelines for health care professionals. Alstrom Syndrome of Canada Includes information about the condition, and the organisation. Alstrom Syndrome UK Support Group Information centre and discussion forum for anyone with an interest in this disorder. NORD - Alstrom Syndrome Sample report, plus links to organisations. [Fee required for full report] Smart Groups: Alström Families Mailing list, pictures, links and files.
Rare Disorders - 115 Of The Best Sites Selected By Humans Pemphigus Pemphigus Hub -Pemphigus -Pemphigus Vulgaris -Pemphigus -International Pemphigus Foundation Alstrom_Syndrome -NORD - alstrom syndrome -Smart Groups http://www.cbel.com/rare_disorders/?order=alpha
Rare Disorders - 115 Of The Best Sites Selected By Humans Hub 1 Pemphigus 1 -Pemphigus Vulgaris 0 -Pemphigus 0 -International Pemphigus Foundation 0 Alstrom_Syndrome 2 -NORD - alstrom syndrome 2 -Smart http://www.cbel.com/rare_disorders/?order=pop
FORMULAIRE INSCRIPTION RECHERCHE WWW.LACHAINETTE.COM Contacts Rare disease selected alstrom syndrome Id, First name, Country, Web. 882, Jan Marshall, FRANCE, http://www.lachainette.com/US/ContactsPathologie.php?Action=contacter&Id=956
References For Alstrom Syndrome With The MeSH Term Blindness References for alstrom syndrome with the MeSH term Blindness, G2D Home. PMID and date. Follow the link to see the corresponding entry by PubMed http://www.bork.embl-heidelberg.de/g2d/exam_mesh_disease.pl?Blindness:U7840:Alst
References For Alstrom Syndrome With The MeSH Term Acanthosis References for alstrom syndrome with the MeSH term Acanthosis Nigricans, G2D Home. PMID and date. Follow the link to see the corresponding entry by PubMed http://www.bork.embl-heidelberg.de/g2d/exam_mesh_disease.pl?Acanthosis_Nigricans
GeneCard For ALMS1 Approved UCL/HGNC/HUGO Human Gene Nomenclature database symbol ALMS1 (alstrom syndrome 1). mouse (MGD), Alms1, 6, alstrom syndrome 1 homolog (human), http://bioinfo.cnio.es/cgi-bin/db/genecards/carddisp?ALMS1
Extractions: Jackson Laboratory, Bar Harbor, ME 04609-1500, USA. 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
GeneCard For ALMS1 Approved UCL/HGNC/HUGO Human Gene Nomenclature database symbol ALMS1 (alstrom syndrome 1). mouse (MGD), Alms1, , alstrom syndrome 1 homolog (human), , . http://www6.unito.it/cgi-bin/cards/carddisp?ALMS1
CMGS-Wolfram Syndrome/11.2.99 The association of DM and optic atrophy also occurs in Friedrich s ataxia,Refsum disease, alstrom syndrome, Lawrence Moon syndrome, Kearn- Sayre syndrome and http://www.ich.ucl.ac.uk/cmgs/wolfram.htm
Extractions: 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.
Extractions: alopecia androgenetica, hair growth might be negatively influenced by IL-1, directly produced by the outer root sheath keratinocytes. Consequently, identifying the "inflammatory alopecic individual' might be of clinical interest to discriminate among individuals for whom anti-IL-1 strategies might be of therapeutic relevance. 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.
Dictionary Definition Of ALSTROM'S SYNDROME Dictionary definition of alstrom S syndrome. Medical dictionary. Browse Dictionary by alphabet. 0 1 2 3 4 5 6 7 8 9 A B C D E F G H http://www.dictionarybarn.com/ALSTROMS-SYNDROME.php
DBI - Alström Syndrome Kay Parkinson Alström syndrome UK 49 Southfield Avenue Paignton South Devon England, UK. TQ3 1LH alstrom@syndromeUK.freeserve.co.uk. http://www.deafblindinternational.org/review/alstrom.html
Extractions: In clinical medicine, diagnosis is made when four out of five principal features of AS are present. These are degeneration of the retina (retinopathy) at an early age i.e. under 1 year, which is usually first noticed as involuntary eye movements (nystagmus) and/or light sensitivity (photophobia). In addition, infantile obesity, cardiomyopathy (infantile or adolescent), mild to moderate sensorineual hearing loss may also be observed in early childhood, and type 2 diabetes mellitus or high levels of insulin in the blood (hyperinsulinemia) usually begin in adolescence. Presentation of features
MedlinePlus Medical Encyclopedia: Alström Syndrome Alström syndrome. Treatment. There is no specific treatment for this syndrome. Diabetes can be treated with oral medications, insulin, or a combination of both. http://www.nlm.nih.gov/medlineplus/ency/article/001665.htm
Extractions: @import url(http://www.nlm.nih.gov/medlineplus/images/advanced.css); Skip navigation Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Contents of this page: 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. Symptoms Blindness or severe vision impairment in infancy Symptoms of childhood onset of type 2 diabetes Obesity Deafness Dark patches of skin (acanthosis nigricans) Growth retardation Impaired heart function ( cardiomyopathy ), which may lead to heart failure
