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alstrom综合征 - 遗传疾病与心脏衰竭,视力问题
定义 Alstrom综合征
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
一些常见的症状
听力损失
浮肿的脸
脚和腿肿
视力问题
一些有关的诊断
1 - 7 of
115
诊断
血管性水肿
cystinuria
药物和毒素
急性肾功能衰竭
急性肾小管坏死
甲状腺功能减退
吸入性虐待
更多
我有 'Alstrom综合征'?
此外,下列诊断测试可能需要帮助核实诊断:
诊断测试的搜索结果 'alstrom综合征'
1 - 5 of
18
诊断测试
血清T3
Alstrom综合征 和 血清T3
血清T4自由
Alstrom综合征 和 血清T4自由
血清TSH水平
Alstrom综合征 和 血清TSH水平
发髻
Alstrom综合征 和 发髻
完成代谢小组
Alstrom综合征 和 完成代谢小组
全面眼科检查
Alstrom综合征 和 全面眼科检查
开发测试
Alstrom综合征 和 开发测试
超声心动图
Alstrom综合征 和 超声心动图
心电图
Electrocardiogram
Alstrom综合征 和 心电图
听力测试
standard technique of representing hearing loss
Alstrom综合征 和 听力测试
肝功能检查
elevated liver enzymes
Alstrom综合征 和 肝功能检查
血浆尿酸
Alstrom综合征 和 血浆尿酸
血清肌酐
Alstrom综合征 和 血清肌酐
血清甘油三酯
Triglyceride Test
Alstrom综合征 和 血清甘油三酯
空腹血脂谱
Alstrom综合征 和 空腹血脂谱
血清电解质
Alstrom综合征 和 血清电解质
血清葡萄糖
Alstrom综合征 和 血清葡萄糖
广播电视讲话接待门槛
Alstrom综合征 和 广播电视讲话接待门槛
欲了解更多请登录,登录是免费的(点击登陆)
治疗程序为 'Alstrom综合征'?
管理或治疗疾病应始终取决于患者的卫生保健提供者. 以下是有关治疗程序或药物 Alstrom Syndrome:
治疗程序的搜索结果 'alstrom综合征'
1 - 2 of
2
治疗程序
排名是计算机生成的. 请咨询您的卫生保健提供者.
特殊教育
Alstrom综合征 和 特殊教育
言语治疗
Alstrom综合征 和 言语治疗
药品的搜索结果 'alstrom综合征'
1 - 2 of
2
药物
排名是计算机生成的. 请咨询您的卫生保健提供者.
Insulin
Alstrom综合征 和 Insulin
thyroid replacement
Alstrom综合征 和 thyroid replacement
网络搜索结果 alstrom综合征
网站(所有)
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治疗
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药品
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试验
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研究
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饮食
结果
1 - 50
- Alstrom syndrome1
Alstrom syndrome 1 (ALMS1)
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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
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ALMS1 - Alstrom syndrome 1 - Genetics Home Reference
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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
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Alstrom syndrome 1 homolog (human) (Alms1)
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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
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Alstrom syndrome 1 pseudogene (ALMS1P)
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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
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Usher syndrome - Wikipedia, the free encyclopedia
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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
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Alström syndrome - Genetics Home Reference
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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
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Talk:Alstrom syndrome - Wikipedia, the free encyclopedia
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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
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MedlinePlus Medical Encyclopedia: Alström syndrome
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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
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Bardet-Biedl syndrome - Wikipedia, the free encyclopedia
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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
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Encyclopedia A-Az on Yahoo! Health
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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
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Alström Syndrome -- GeneReviews -- NCBI Bookshelf
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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
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Alström syndrome - Related Gene(s) - Genetics Home Reference
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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
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Dandy-Walker syndrome - Wikipedia, the free encyclopedia
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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
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Cytoskeletal part - Gene Category - Genetics Home Reference
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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
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Joubert syndrome - Wikipedia, the free encyclopedia
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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
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MedTerms Medical Dictionary A-Z List - A
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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
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IGF1 - NextBio
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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
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Alström Syndrome -- GeneReviews -- NCBI Bookshelf
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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
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Marden-Walker syndrome - Wikipedia, the free encyclopedia
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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
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Meckel syndrome - Wikipedia, the free encyclopedia
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... 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
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Intracellular non-membrane-bounded organelle - Gene Category - Genetics ...
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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
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Alstrom's Syndrome - Yahoo! Health
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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
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Search Results - Genetics Home Reference
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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
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203800
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http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=203800
www.ncbi.nlm.nih.gov
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Orofaciodigital syndrome - Wikipedia, the free encyclopedia
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... 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
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Search Results - Genetics Home Reference
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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
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Senior-Løken syndrome - Wikipedia, the free encyclopedia
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... 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
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MIM Gene map
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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
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Molecular function - Gene Category - Genetics Home Reference
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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
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MIM Gene map
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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
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Intracellular organelle part - Gene Category - Genetics Home Reference
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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
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Genetic obesity syndromes.
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... 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
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Ellis-van Creveld syndrome - Wikipedia, the free encyclopedia
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... 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
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PubMed-Link Search Results - Genetics Home Reference
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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
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Alms1(BBB) - NextBio
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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
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AceView: gene:ALMS1, a comprehensive annotation of human, mouse and ...
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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
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Alstrm syndrome
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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
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Intracellular - Gene Category - Genetics Home Reference
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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
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MIM Morbid map
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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
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Cytoplasmic part - Gene Category - Genetics Home Reference
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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
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The ciliopathies: an emerging class of human genetic disorders.
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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
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Browse Genes by Category - Genetics Home Reference
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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
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OMIM Update List for February, 1997
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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
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Chromosome 2 - Genes on chromosome 2 - Genetics Home Reference
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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
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OMIM Update List for April, 2002
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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
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MIM Morbid map
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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
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EST Profile - Hs.184720
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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
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PMID 11087115
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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
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Orphanet: Alström syndrome
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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
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Alström syndrome - Wikipedia, the free encyclopedia
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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
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