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カテゴリ 先天性遺伝子オレゴン 周波数 珍しい (U.S.)

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関連医師の種類 family practitioner internist genetics specialist 郵便番号 して下さいローカル その結果、コンピュータを見つけるのに役立つ場合は医師のアドバイスに生成される. MEDgleを完了させるかは、プロバイダとの専門医師やクレームの正確な提案では特定のタイプをお勧めしていません.

アルストローム症候群 - 心不全とビジョンの問題と遺伝性疾患 に定義されています アルストローム症候群 Alström syndrome is a rare genetic disorder. * Heart failure (Dilated cardiomyopathy) in over 60% of cases, usually within the first few weeks after birth, but sometimes the onset is in adolescence or adulthood. * Light sensitivity and vision problems (Cone-rod dystrophy) in all cases, usually within 15 months of birth and progressively worsening until about 20 years of age いくつかの共通の現象 難聴 腫れぼったい顔 腫れ足と脚 ビジョンの問題 いくつかの関連診断 1 - 7 of 115 診断 血管性浮腫 シスチン尿 薬物や毒素 急性腎不全 急性尿細管壊死 甲状腺機能低下症 吸入乱用   より 私はありますか？ 'アルストローム症候群'? 加えて、以下の診断テストをされるとの診断に役立つかどうかを確認する必要があります: 診断テストの検索結果を得るために 'アルストローム症候群' 1 - 5 of 18 診断テスト 血清T3の アルストローム症候群 および 血清T3の 血清T4の無料です アルストローム症候群 および 血清T4の無料です 血清TSHが アルストローム症候群 および 血清TSHが 尿素 アルストローム症候群 および 尿素 完全な代謝パネルを開きます アルストローム症候群 および 完全な代謝パネルを開きます 包括的な目の試験を受けます アルストローム症候群 および 包括的な目の試験を受けます 発達テスト アルストローム症候群 および 発達テスト 心エコー図 アルストローム症候群 および 心エコー図 心電図 Electrocardiogram アルストローム症候群 および 心電図 テストを聞いて standard technique of representing hearing loss アルストローム症候群 および テストを聞いて 肝機能検査 elevated liver enzymes アルストローム症候群 および 肝機能検査 血漿尿酸 アルストローム症候群 および 血漿尿酸 血清クレアチニン アルストローム症候群 および 血清クレアチニン 血清トリグリセリド Triglyceride Test アルストローム症候群 および 血清トリグリセリド 空腹時脂質プロファイル アルストローム症候群 および 空腹時脂質プロファイル 血清電解質 アルストローム症候群 および 血清電解質 血清グルコース アルストローム症候群 および 血清グルコース 音声の受信しきい値のSRT アルストローム症候群 および 音声の受信しきい値のSRT 詳細については、ログインしてください、ログイン情報（クリックしてログインする）無料です 治療の手順を 'アルストローム症候群'? 常に患者さんの健康管理や介護のプロバイダによって決定されるべき疾患の治療. 下記の手順または関連する治療薬の一覧です Alstrom Syndrome: 治療の手順の検索結果 'アルストローム症候群' 1 - 2 of 2 治療の手順 ランキングは、コンピュータが生成されます. あなたの健康管理プロバイダを参照してください. 特殊教育 アルストローム症候群 および 特殊教育 音声療法 アルストローム症候群 および 音声療法 薬の検索結果 'アルストローム症候群' 1 - 2 of 2 薬 ランキングは、コンピュータが生成されます. あなたの健康管理プロバイダを参照してください.   Insulin アルストローム症候群 および Insulin   thyroid replacement アルストローム症候群 および thyroid replacement ウェブ検索結果調査のための アルストローム症候群 ウェブ（すべて）  |  治療  |  薬  |  テスト  |  調査  |  ダイエット その結果 1 - 50 - Alstrom Syndrome Alstrom syndrome 1 (ALMS1) Human protein-coding gene ALMS1. Represented by 214 ESTs ... Homo sapiens Alstrom syndrome 1 splice variant (ALMS1) mRNA, partial cds, alternatively spliced ... http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=184720   www.ncbi.nlm.nih.gov - summary ALMS1 - Alstrom syndrome 1 - Genetics Home Reference The official name of this gene is "Alstrom syndrome 1." ALMS1 is the gene's official symbol. ... Alström syndrome - caused by mutations in the ALMS1 gene ... http://ghr.nlm.nih.gov/gene=alms1   ghr.nlm.nih.gov - summary Alstrom syndrome 1 homolog (human) (Alms1) Mouse protein-coding gene Alms1. Represented by 85 ESTs from 51 cDNA libraries. ... Mus musculus Alstrom syndrome 1 homolog (human) (Alms1), mRNA. PA ... http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Mm&CID=246967   www.ncbi.nlm.nih.gov - summary Alstrom syndrome 1 pseudogene (ALMS1P) Human pseudo gene ALMS1P. Represented by 13 ESTs from 8 cDNA libraries. ... Homo sapiens Alstrom syndrome 1 pseudogene, mRNA (cDNA clone IMAGE:4850300) PA. AK307160.1 ... http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=278983   www.ncbi.nlm.nih.gov - summary Usher syndrome - Wikipedia, the free encyclopedia This syndrome is characterized by deafness and a gradual vision loss. ... syndrome, including Alport syndrome, Alstrom syndrome, Bardet-Biedl syndrome, ... http://en.wikipedia.org/wiki/Usher_syndrome   en.wikipedia.org - summary Alström syndrome - Genetics Home Reference MedlinePlus Encyclopedia: Alström syndrome ... Alstrom-Hallgren syndrome. Alstrom syndrome. See How are genetic conditions and genes named? ... http://ghr.nlm.nih.gov/condition=alstromsyndrome   ghr.nlm.nih.gov - summary Talk:Alstrom syndrome - Wikipedia, the free encyclopedia Talk:Alstrom syndrome. From Wikipedia, the free encyclopedia. Jump to: navigation, search ... This article is within the scope of WikiProject Medicine. ... http://en.wikipedia.org/wiki/Talk:Alstrom_syndrome   en.wikipedia.org - summary MedlinePlus Medical Encyclopedia: Alström syndrome Alström syndrome is an inherited disease marked by blindness, ... Alström Syndrome International -- www.jax.org/alstrom/ Outlook (Prognosis) Return to top ... http://www.nlm.nih.gov/medlineplus/ency/article/001665.htm   www.nlm.nih.gov - summary Bardet-Biedl syndrome - Wikipedia, the free encyclopedia The Bardet-Biedl syndrome is a ciliopathic human genetic disorder that produces ... nephronophthisis, Alstrom syndrome, Meckel-Gruber syndrome and some forms of ... http://en.wikipedia.org/wiki/Bardet-Biedl_syndrome   en.wikipedia.org - summary Encyclopedia A-Az on Yahoo! Health Health encyclopedia of diseases and conditions covering symptoms, definitions, alternative names, causes, incidence, ... Alstrom's Syndrome. Alternating ... http://health.yahoo.com/health/ency/   health.yahoo.com - summary Alström Syndrome -- GeneReviews -- NCBI Bookshelf Figure 1. Age Range of Onset of Features in Alstrom Syndrome ... Alstrom syndrome protein 1 ... Alstrom Syndrome International. 14 Whitney Farm Rd. Mt Desert ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=alstrom   www.ncbi.nlm.nih.gov - summary Alström syndrome - Related Gene(s) - Genetics Home Reference Related Gene(s) ALMS1: Alstrom syndrome 1. Reviewed: August 2008. Published: April 24, 2009. Lister Hill National Center for Biomedical Communications ... http://ghr.nlm.nih.gov/condition=alstromsyndrome/show/Related+Gene(s)   ghr.nlm.nih.gov - summary Dandy-Walker syndrome - Wikipedia, the free encyclopedia Dandy-Walker syndrome is one such disease, part of an emerging class of diseases ... disease, nephronophthisis, Alstrom syndrome, Meckel-Gruber syndrome and some ... http://en.wikipedia.org/wiki/Dandy-Walker_syndrome   en.wikipedia.org - summary Cytoskeletal part - Gene Category - Genetics Home Reference ALMS1: Alstrom syndrome 1. ALS2: amyotrophic lateral sclerosis 2 (juvenile) ... MID1: midline 1 (Opitz/BBB syndrome) MYH7: myosin, heavy chain 7, cardiac muscle, beta ... http://ghr.nlm.nih.gov/ghr/genesByCategory/show/GO_0005575,G...   ghr.nlm.nih.gov - summary Joubert syndrome - Wikipedia, the free encyclopedia Joubert syndrome is one such disease, part of an emerging class of diseases ... disease, nephronophthisis, Alstrom syndrome, Meckel-Gruber syndrome and some ... http://en.wikipedia.org/wiki/Joubert_syndrome   en.wikipedia.org - summary MedTerms Medical Dictionary A-Z List - A AIDS wasting syndrome. AIDS-related complex. AIH (artificial insemination by husband) ... Alstrom syndrome. Alstrom-Hallgren syndrome. Alstrom-Hallgren syndrome ... http://www.medicinenet.com/htmlalphaidx/dict_A.htm   www.medicinenet.com - summary IGF1 - NextBio IGF1: The somatomedins, or insulin-like growth factors (IGFs) ... Impaired IGF1-GH axis and new therapeutic options in Alstrom Syndrome patients: a case series ... http://www.nextbio.com/b/home/home.nb?q=IGF1&tab=news   www.nextbio.com - summary Alström Syndrome -- GeneReviews -- NCBI Bookshelf Search for. Within This book All books PubMed. Bookshelf " GeneReviews " Alström Syndrome. Figure 1. Age Range of Onset of Features in Alstrom Syndrome ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part...   www.ncbi.nlm.nih.gov - summary Marden-Walker syndrome - Wikipedia, the free encyclopedia Marden-Walker syndrome (MWS) "is comprised of blepharophimosis, microcephaly, ... disease, nephronophthisis, Alstrom syndrome, Meckel-Gruber syndrome and some ... http://en.wikipedia.org/wiki/Marden-Walker_syndrome   en.wikipedia.org - summary Meckel syndrome - Wikipedia, the free encyclopedia ... and liver disease, nephronophthisis, Alstrom syndrome, and some forms of retinal ... The Meckel?Gruber Syndrome proteins MKS1 and meckelin interact and are ... http://en.wikipedia.org/wiki/Meckel_syndrome   en.wikipedia.org - summary Intracellular non-membrane-bounded organelle - Gene Category - Genetics ... ALMS1: Alstrom syndrome 1. ALS2: amyotrophic lateral sclerosis 2 (juvenile) ... SBDS: Shwachman-Bodian-Diamond syndrome ... USH1C: Usher syndrome 1C (autosomal ... http://ghr.nlm.nih.gov/GenesByCategory/GO_0005575,GO_0043226...   ghr.nlm.nih.gov - summary Alstrom's Syndrome - Yahoo! Health Alstrom Syndrome International. International network. ... Provides support and networking for families affected by Alstrom syndrome. ... http://health.yahoo.com/children-resources/alstrom-s-syndrom...   health.yahoo.com - summary Search Results - Genetics Home Reference People with Prader-Willi syndrome typically... ALMS1: Alstrom syndrome 1. Gene summary ... Alström syndrome ... http://ghr.nlm.nih.gov/search?query="Obesity"   ghr.nlm.nih.gov - summary 203800 http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=203800   www.ncbi.nlm.nih.gov - summary Orofaciodigital syndrome - Wikipedia, the free encyclopedia ... disease, nephronophthisis, Alstrom syndrome, Meckel-Gruber syndrome and some ... OFD syndrome type Figuera at NIH's Office of Rare Diseases ... http://en.wikipedia.org/wiki/Orofaciodigital_syndrome   en.wikipedia.org - summary Search Results - Genetics Home Reference ALMS1: Alstrom syndrome 1. Gene summary ... to diabetes and obesity (two common features of Alström syndrome).... MKKS: McKusick-Kaufman syndrome. Gene summary ... http://ghr.nlm.nih.gov/search?query="Obesity"&show=genes   ghr.nlm.nih.gov - summary Senior-Løken syndrome - Wikipedia, the free encyclopedia ... disease, nephronophthisis, Alstrom syndrome, Meckel-Gruber syndrome and some ... for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36" ... http://en.wikipedia.org/wiki/Senior-L%C3%B8ken_syndrome   en.wikipedia.org - summary MIM Gene map Multiple mitochondrial dysfunctions syndrome. 605711 ... Alstrom syndrome, 203800 (3) LD, Fd, REc. Copyright © 1966-2009 Johns Hopkins University ... http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?chromosome=2p13   www.ncbi.nlm.nih.gov - summary Molecular function - Gene Category - Genetics Home Reference ADAMTS10: ADAM metallopeptidase with thrombospondin type 1 motif, 10. ALMS1: Alstrom syndrome 1 ... LEPRE1: leucine proline-enriched proteoglycan (leprecan) 1 ... http://ghr.nlm.nih.gov/ghr/genesByCategory/show/GO_0003674   ghr.nlm.nih.gov - summary MIM Gene map Alstrom syndrome gene. 606844. Alstrom syndrome, 203800 (3) LD, Fd, REc. 2p13. ANXA4, ANX4 ... DNA-depletion syndrome, hepatocerebral form, 251880 ... http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l203800   www.ncbi.nlm.nih.gov - summary Intracellular organelle part - Gene Category - Genetics Home Reference ALMS1: Alstrom syndrome 1. ALS2: amyotrophic lateral sclerosis 2 (juvenile) ... MID1: midline 1 (Opitz/BBB syndrome) ... SBDS: Shwachman-Bodian-Diamond syndrome ... http://ghr.nlm.nih.gov/ghr/genesByCategory/show/GO_0005575,G...   ghr.nlm.nih.gov - summary Genetic obesity syndromes. ... Alstrom syndrome, Cohen syndrome, Albright's hereditary osteodystrophy ... Bardet-Biedl Syndrome/genetics. Brain/abnormalities. Chromosomes, Human, Pair 1 ... http://www.ncbi.nlm.nih.gov/pubmed/18230893?ordinalpos=11&it...   www.ncbi.nlm.nih.gov - summary Ellis-van Creveld syndrome - Wikipedia, the free encyclopedia ... disease, nephronophthisis, Alstrom syndrome, Meckel-Gruber syndrome and some ... dysplasia) · Polyostotic fibrous dysplasia (McCune-Albright syndrome) ... http://en.wikipedia.org/wiki/Ellis-van_Creveld_syndrome   en.wikipedia.org - summary PubMed-Link Search Results - Genetics Home Reference Condition summary. ALMS1:Alstrom syndrome 1. Gene summary. Published: April 17, 2009. Lister Hill National Center for Biomedical Communications ... http://ghr.nlm.nih.gov/search/term=16720663?area=pubmed-id   ghr.nlm.nih.gov - summary Alms1(BBB) - NextBio Alstrom syndrome. Crotamiton. Cortex of cerebrum. Patau's syndrome. Dropropizine. Superior vena cava. Hypoxic-ischemic brain in... Phenethicillin ... http://www.nextbio.com/b/home/home.nb?q=BBB   www.nextbio.com - summary AceView: gene:ALMS1, a comprehensive annotation of human, mouse and ... AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed ... Homo sapiens complex locus ALMS1, encoding Alstrom syndrome 1. ... http://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?exdb...   www.ncbi.nlm.nih.gov - summary Alstrm syndrome Alstrm syndrome is a very rare inherited disease that can lead to blindness, ... Alstrm Syndrome International -- www.alstrom.org. Outlook (Prognosis) ... http://adam.about.com/encyclopedia/infectiousdiseases/Alstrm-syndrome.htm   adam.about.com - summary Intracellular - Gene Category - Genetics Home Reference ALMS1: Alstrom syndrome 1. ALPL: alkaline phosphatase, liver/bone/kidney ... MKKS: McKusick-Kaufman syndrome ... OCRL: oculocerebrorenal syndrome of Lowe ... http://ghr.nlm.nih.gov/GenesByCategory/GO_0005575,GO_0005623...   ghr.nlm.nih.gov - summary MIM Morbid map Alpha-thalassemia myelodysplasia syndrome, somatic, 300448 (3) ... Alstrom syndrome, 203800 (3) ALMS1, ALSS, KIAA0328. 606844. 2p13 ... http://www.ncbi.nlm.nih.gov/Omim/getmorbid.cgi?start=135   www.ncbi.nlm.nih.gov - summary Cytoplasmic part - Gene Category - Genetics Home Reference ALMS1: Alstrom syndrome 1. ALS2: amyotrophic lateral ... binding protein 2 (Rett syndrome) MED12: mediator complex subunit 12 ... syndrome of ... http://ghr.nlm.nih.gov/GenesByCategory/GO_0005575,GO_0044464...   ghr.nlm.nih.gov - summary The ciliopathies: an emerging class of human genetic disorders. Cilia and flagella are ancient, evolutionarily conserved organelles that project ... Bardet-Biedl syndrome, Alstrom syndrome, and Meckel-Gruber syndrome. ... http://www.ncbi.nlm.nih.gov/pubmed/16722803   www.ncbi.nlm.nih.gov - summary Browse Genes by Category - Genetics Home Reference ADAMTS10: ADAM metallopeptidase with thrombospondin type 1 motif, 10 ... ALMS1: Alstrom syndrome 1. BSCL2: Bernardinelli-Seip congenital lipodystrophy 2 (seipin) ... http://ghr.nlm.nih.gov/GenesByCategory/GO_0008150,GO_0009987,GO_0010467   ghr.nlm.nih.gov - summary OMIM Update List for February, 1997 193300 VON HIPPEL-LINDAU SYNDROME; VHL. 201910 ADRENAL HYPERPLASIA III. 203800 ALSTROM SYNDROME. 300074 X-CHROMOSOME CONTROLLING ELEMENT Xce (MOUSE) HOMOLOG ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?2.1997   www.ncbi.nlm.nih.gov - summary Chromosome 2 - Genes on chromosome 2 - Genetics Home Reference ABCA12: ATP-binding cassette, sub-family A (ABC1), member 12. ACVR1: activin A ... ALMS1: Alstrom syndrome 1. ALS2: amyotrophic lateral sclerosis 2 (juvenile) ... http://ghr.nlm.nih.gov/chromosome=2/show/Genes   ghr.nlm.nih.gov - summary OMIM Update List for April, 2002 606844 ALSTROM SYNDROME GENE; ALMS1. 606845 PDZ PROTEIN INTERACTING SPECIFICALLY WITH TC10 ... 203800 ALSTROM SYNDROME; ALMS. 226200 ENTEROKINASE DEFICIENCY ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?4.2002   www.ncbi.nlm.nih.gov - summary MIM Morbid map Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis, 300194 (2) ... Alstrom syndrome, 203800 (3) ALMS1, ALSS, KIAA0328. 606844. 2p13 ... http://www.ncbi.nlm.nih.gov/Omim/getmorbid.cgi?start=142   www.ncbi.nlm.nih.gov - summary EST Profile - Hs.184720 Hs.184720 - ALMS1: Alstrom syndrome 1. Breakdown by Body Sites. Hs.184720. adipose tissue ... EST profiles show approximate gene expression patterns as ... http://www.ncbi.nlm.nih.gov/UniGene/ESTProfileViewer.cgi?uglist=Hs.184720   www.ncbi.nlm.nih.gov - summary PMID 11087115 11087115 2001 03 15 2001 05 31 2007 11 14 1521-6543 50 1 2000 Jul IUBMB Life Two ... was mapped to chromosome 2p13 and is a new candidate gene for Alstrom syndrome. ... http://www.ncbi.nlm.nih.gov/pubmed/11087115   www.ncbi.nlm.nih.gov - summary Orphanet: Alström syndrome The portal for rare diseases and orphan drugs ... Alström syndrome is a multisystemic disorder characterized by cone-rod dystrophy, ... http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=64   www.orpha.net - summary Alström syndrome - Wikipedia, the free encyclopedia Alstrom syndrome (OMIM 203800): a case report and literature review. ... alstrom at NIH/UW GeneTests. Alström Syndrome International home page ... http://en.wikipedia.org/wiki/Alstrom_syndrome   en.wikipedia.org - summary もっと表示 1  2