Matches in DBpedia 2016-04 for { <http://dbpedia.org/resource/Alström_syndrome> ?p ?o }
- Alström_syndrome abstract "Alström syndrome, also called Alstrom-Halgren Syndrome, is a rare genetic disorder caused by mutations in the gene ALMS1. It is among the rarest genetic disorders in the world, as currently it has only 266 reported cases in medical literature and over 501 known cases in 47 countries. It was first described by Carl-Henry Alström in Sweden in 1959. Alstrom syndrome is sometimes confused with Bardet-Biedl syndrome, which has similar symptoms. Bardet-Biedl syndrome tends to have later onset in its symptoms. The risk where two carrier parents can both pass the gene and therefore have a child affected by the syndrome is 25% with each pregnancy. The risk to have a child who is the carrier of the gene like the parents is 50% with each pregnancy. A chance for a child to receive normal genes from both parents and be considered to be \"genetically\" normal is 25%. The risk for carrying the gene is equivalent for both male and female.According to a 2007 article by Joy et al. published in the Orphanet Journal of Rare Diseases:\"Alström syndrome (AS) is a rare autosomal recessive disease characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss. Associated endocrinologic features include hyperinsulinemia, early-onset type 2 diabetes, and hypertriglyceridemia.Thus, AS shares several features with the common metabolic syndrome, namely obesity, hyperinsulinemia, and hypertriglyceridemia. Mutations in the ALMS1 gene have been found to be causative for AS with a total of 79 disease-causing mutations having been described.\" Estimates have ranged from 1 in 10,000 to fewer than 1 in 1,000,000 individuals in the general population.".
- Alström_syndrome icd10 "Q87.8".
- Alström_syndrome omim "203800".
- Alström_syndrome thumbnail Alström_syndrome.jpg?width=300.
- Alström_syndrome wikiPageExternalLink alstrom.org.uk.
- Alström_syndrome wikiPageExternalLink ALMS1.
- Alström_syndrome wikiPageExternalLink ojrd.com.
- Alström_syndrome wikiPageExternalLink www.alstrom.org.
- Alström_syndrome wikiPageExternalLink 5201933a.pdf.
- Alström_syndrome wikiPageExternalLink NBK1267.
- Alström_syndrome wikiPageExternalLink 203800,606844,203800,606844.
- Alström_syndrome wikiPageExternalLink Alstrom+syndrome.htm.
- Alström_syndrome wikiPageID "5473657".
- Alström_syndrome wikiPageLength "25657".
- Alström_syndrome wikiPageOutDegree "77".
- Alström_syndrome wikiPageRevisionID "705673295".
- Alström_syndrome wikiPageWikiLink ACE_inhibitor.
- Alström_syndrome wikiPageWikiLink ALMS1.
- Alström_syndrome wikiPageWikiLink Adipose_tissue.
- Alström_syndrome wikiPageWikiLink Amniocentesis.
- Alström_syndrome wikiPageWikiLink Anisotropy.
- Alström_syndrome wikiPageWikiLink Autosome.
- Alström_syndrome wikiPageWikiLink Bar_Harbor,_Maine.
- Alström_syndrome wikiPageWikiLink Bardet–Biedl_syndrome.
- Alström_syndrome wikiPageWikiLink CT_scan.
- Alström_syndrome wikiPageWikiLink Cardiomyopathy.
- Alström_syndrome wikiPageWikiLink Carl-Henry_Alström.
- Alström_syndrome wikiPageWikiLink Category:Ciliopathy.
- Alström_syndrome wikiPageWikiLink Category:Rare_diseases.
- Alström_syndrome wikiPageWikiLink Chorionic_villus_sampling.
- Alström_syndrome wikiPageWikiLink Ciliopathy.
- Alström_syndrome wikiPageWikiLink Cone_dystrophy.
- Alström_syndrome wikiPageWikiLink Diabetes_mellitus_type_2.
- Alström_syndrome wikiPageWikiLink Dialysis.
- Alström_syndrome wikiPageWikiLink Diffusivity.
- Alström_syndrome wikiPageWikiLink Digoxin.
- Alström_syndrome wikiPageWikiLink Dipeptidyl_peptidase-4_inhibitor.
- Alström_syndrome wikiPageWikiLink Disease.
- Alström_syndrome wikiPageWikiLink Dominance_(genetics).
- Alström_syndrome wikiPageWikiLink Echocardiography.
- Alström_syndrome wikiPageWikiLink Endocrinology.
- Alström_syndrome wikiPageWikiLink Exenatide.
- Alström_syndrome wikiPageWikiLink Gene.
- Alström_syndrome wikiPageWikiLink Genetic_disorder.
- Alström_syndrome wikiPageWikiLink Genetic_testing.
- Alström_syndrome wikiPageWikiLink Genotype.
- Alström_syndrome wikiPageWikiLink Glucagon-like_peptide-1.
- Alström_syndrome wikiPageWikiLink Glucose.
- Alström_syndrome wikiPageWikiLink HMG-CoA.
- Alström_syndrome wikiPageWikiLink Hyperinsulinemia.
- Alström_syndrome wikiPageWikiLink Hypertriglyceridemia.
- Alström_syndrome wikiPageWikiLink Jackson_Laboratory.
- Alström_syndrome wikiPageWikiLink Kyphosis.
- Alström_syndrome wikiPageWikiLink Learning_disability.
- Alström_syndrome wikiPageWikiLink Magnetic_resonance_imaging.
- Alström_syndrome wikiPageWikiLink Maine.
- Alström_syndrome wikiPageWikiLink Meckel_syndrome.
- Alström_syndrome wikiPageWikiLink Meglitinide.
- Alström_syndrome wikiPageWikiLink Metformin.
- Alström_syndrome wikiPageWikiLink Myelin.
- Alström_syndrome wikiPageWikiLink Nephronophthisis.
- Alström_syndrome wikiPageWikiLink Niacin.
- Alström_syndrome wikiPageWikiLink Nystagmus.
- Alström_syndrome wikiPageWikiLink Obesity.
- Alström_syndrome wikiPageWikiLink Pericardium.
- Alström_syndrome wikiPageWikiLink Peritoneum.
- Alström_syndrome wikiPageWikiLink Phenotype.
- Alström_syndrome wikiPageWikiLink Photosensitivity.
- Alström_syndrome wikiPageWikiLink Polycystic_kidney_disease.
- Alström_syndrome wikiPageWikiLink Polycystic_liver_disease.
- Alström_syndrome wikiPageWikiLink Pramlintide.
- Alström_syndrome wikiPageWikiLink Preimplantation_genetic_diagnosis.
- Alström_syndrome wikiPageWikiLink Primary_ciliary_dyskinesia.
- Alström_syndrome wikiPageWikiLink Retinopathy.
- Alström_syndrome wikiPageWikiLink Sensorineural_hearing_loss.
- Alström_syndrome wikiPageWikiLink Steatosis.
- Alström_syndrome wikiPageWikiLink Subcutaneous_tissue.
- Alström_syndrome wikiPageWikiLink Syndrome.
- Alström_syndrome wikiPageWikiLink Thiazolidinedione.
- Alström_syndrome wikiPageWikiLink Transaminase.
- Alström_syndrome wikiPageWikiLink Transneuronal_degeneration.
- Alström_syndrome wikiPageWikiLink University_of_Southampton.
- Alström_syndrome wikiPageWikiLink Wikt:dystrophy.
- Alström_syndrome wikiPageWikiLink X-ray.
- Alström_syndrome wikiPageWikiLinkText "Alström syndrome".
- Alström_syndrome caption "Transaxial image of the chest at the level of the heart illustrating the typical degree of subcutaneous and epicardial adipose tissue in a patient with Alström syndrome; hence the difficulty in imaging by echocardiography.".
- Alström_syndrome diseasesdb "465".
- Alström_syndrome icd "Q87.8".
- Alström_syndrome medlineplus "1665".
- Alström_syndrome name "Alstrom syndrome".
- Alström_syndrome omim "203800".
- Alström_syndrome wikiPageUsesTemplate Template:Citation_needed.
- Alström_syndrome wikiPageUsesTemplate Template:Infobox_disease.
- Alström_syndrome wikiPageUsesTemplate Template:Or.
- Alström_syndrome wikiPageUsesTemplate Template:Other_genetic_disorders_by_mechanism.
- Alström_syndrome wikiPageUsesTemplate Template:Reflist.
- Alström_syndrome wikiPageUsesTemplate Template:Research_help.
- Alström_syndrome subject Category:Ciliopathy.
- Alström_syndrome subject Category:Rare_diseases.
- Alström_syndrome hypernym Disorder.