BC43.00
家族遗传性扩张型心肌病
Familial-genetic dilated cardiomyopathy
- 上级条目
- BC43.0 扩张型心肌病
- 层级
- 5 级
定义
家族性遗传性扩张型心肌病是一个家族的多个成员中存在的扩张型心肌病，或存在已知与扩张型心肌病显著相关的基因突变。 附加信息：候选细胞骨架和Z盘编码基因，其中大多数被假设会导致力传递异常，包括δ-肌聚糖、β-肌聚糖、结蛋白、核纤层蛋白A/C、后长春新碱、肌肉LIM蛋白、连接素、α-肌动蛋白-2、nebulette、肌球蛋白、，和ZASP（Z带选择性剪接PDZ结构域蛋白）
Familial-genetic dilated cardiomyopathy is the presence of dilated cardiomyopathy that is present in multiple members of a pedigree, or in the presence of a genetic mutation known to be significantly associated with dilated cardiomyopathy. Additional information: Candidate cytoskeletal and Z disk–encoding genes, most of whom are hypothesized to lead to abnormalities in force transmission, include δ-sarcoglycan, β-sarcoglycan, desmin, lamin A/C, metavinculin, muscle LIM protein, titin, α-actinin-2, nebulette, myopalladin, and ZASP (Z band alternatively spliced PDZ domain protein)
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索引词 可用于检索该条目的同义词与别名
- 家族遗传性扩张型心肌病
- 家族性扩张型心肌病
- 家族性充血性心肌病 [possible translation]
- 原发性家族性扩张型心肌病 [possible translation]
- 家族性充血性扩张型心肌病
- 原发性家族性扩张型心肌病
- 家族性孤立性扩张型心肌病
- 脂肪酸氧化代谢异常引起的扩张型心肌病
- 扩张型心肌病伴脂肪酸氧化或酮生成障碍
- 原发性肉碱缺乏症性扩张型心肌病
- 原发性肉碱缺乏症性扩张型低动力性心肌病
- 丙二酰CoA脱羧酶缺乏引起的扩张型心肌病
- 丙二酸尿症引起的扩张型心肌病
- 丙二酰CoA脱羧酶缺乏引起的扩张型低动力性心肌病
- 丙二酰辅酶A脱羧酶缺乏引起的扩张型心肌病
- 线粒体肌病引起的扩张型心肌病
- 线粒体病伴扩张型心肌病
- 线粒体扩张型心肌病
- 组织细胞样心肌病
- 局灶性脂质心肌病
- 小儿黄色瘤样心肌病
- 嗜酸性心肌病
- 嗜酸细胞心肌病
- 细胞色素C氧化酶缺乏症引起的扩张型心肌病
- Barth综合征导致的扩张型心肌病
- Kearns–Sayre综合征导致的扩张型心肌病
- MELAS导致的扩张型心肌病
- MELAS致扩张型心肌病[线粒体脑肌病伴高乳酸血症和脑卒中样发作]
- MERRF导致的扩张型心肌病
- MERRF致扩张型心肌病[肌阵挛癫痫伴破碎样红纤维综合征]
- 神经肌肉疾病引起的扩张型心肌病
- 神经肌肉疾病伴扩张型心肌病
- 抗肌萎缩蛋白病引起的扩张型心肌病
- Duchenne肌营养不良症导致的扩张型心肌病
- Becker肌营养不良症导致的扩张型心肌病
- 核纤层蛋白病引起的扩张型心肌病
- LMNA基因突变致家族性扩张型心肌病伴心脏传导阻滞
- 核纤层蛋白病引起的扩张型心肌病[LMNA]
- 核纤层蛋白A/C突变引起的扩张型心肌病
- lamin A/C突变引起的扩张型心肌病
- Emery-Dreifus肌营养不良症导致的扩张型心肌病
- 肢肌营养不良导致的扩张型心肌病
- 先天性肌营养不良症导致的扩张型心肌病
- 脊髓性肌萎缩引起的扩张型心肌病
- SMA[脊髓性肌萎缩]引起的扩张型心肌病
- 多发性肌炎导致的扩张型心肌病
- 心肌扩张型心肌病
- X连锁婴儿扩张型心肌病
- 溶酶体贮积病引起的扩张型心肌病
- 溶酶体贮积病引起的扩张型低动力性心肌病
- 溶酶体贮积症引起的扩张型心肌病
- 黏多糖贮积症引起的扩张型心肌病
- 黏多醣贮积病引起的扩张型低动力性心肌病
- 黏多糖病引起的扩张型心肌病
- 鞘脂类代谢障碍引起的扩张型心肌病
- 鞘脂类代谢障碍引起的扩张型低动力性心肌病
- 神经鞘脂贮积病引起的扩张型低动力性心肌病
- 神经鞘脂贮积病引起的扩张型心肌病
- 鞘脂沉积病引起的扩张型低动力性心肌病
- 鞘脂沉积病引起的扩张型心肌病
- 戈谢病所致扩张型心肌病
英文词条（50）
- Familial-genetic dilated cardiomyopathy
- familial congestive cardiomyopathy
- familial dilated cardiomyopathy
- primary familial dilated cardiomyopathy
- Familial isolated dilated cardiomyopathy
- Dilated cardiomyopathy due to fatty acid oxidation disorder
- Fatty acid oxidation or ketogenesis disorder with dilated cardiomyopathy
- Dilated cardiomyopathy due to primary carnitine deficiency
- Dilated-hypokinetic cardiomyopathy due to primary carnitine deficiency
- Dilated cardiomyopathy due to malonyl-CoA decarboxylase deficiency
- Dilated-hypokinetic cardiomyopathy due to malonyl-CoA decarboxylase deficiency
- dilated cardiomyopathy due to malonic aciduria
- Dilated cardiomyopathy due to mitochondrial myopathy
- Mitochondrial dilated cardiomyopathy
- mitochondrial disease with dilated cardiomyopathy
- Histiocytoid cardiomyopathy
- focal lipid cardiomyopathy
- infantile xanthomatous cardiomyopathy
- oncocytic cardiomyopathy
- Dilated cardiomyopathy due to Cytochrome C oxidase deficiency
- Dilated cardiomyopathy due to Barth syndrome
- Dilated cardiomyopathy due to Kearns–Sayre syndrome
- Dilated cardiomyopathy due to MELAS
- Dilated cardiomyopathy due to MELAS - [Mitochondrial Encephalopathy, Lactic acidosis and Stroke-like episodes]
- Dilated cardiomyopathy due to MERRF
- Dilated cardiomyopathy due to MERRF - [myoclonic epilepsy with ragged-red fibers]
- Dilated cardiomyopathy due to neuromuscular disease
- Neuromuscular disease with dilated cardiomyopathy
- Dilated cardiomyopathy due to dystrophinopathy
- Dilated cardiomyopathy due to Duchenne muscular dystrophy
- Dilated cardiomyopathy due to Becker muscular dystrophy
- Dilated cardiomyopathy due to laminopathy
- Dilated cardiomyopathy due to lamin A/C mutation
- Dilated cardiomyopathy due to laminopathy [LMNA]
- Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
- Dilated cardiomyopathy due to Emery-Dreifus muscular dystrophy
- Dilated cardiomyopathy due to limb-girdle muscular dystrophy
- Dilated cardiomyopathy due to congenital muscular dystrophy
- Dilated cardiomyopathy due to spinal muscular atrophy
- Dilated cardiomyopathy due to SMA - [spinal muscular atrophy]
- Dilated cardiomyopathy due to polymyositis
- Sarcomeric dilated cardiomyopathy
- X-linked infantile dilated cardiomyopathy
- Dilated cardiomyopathy due to lysosomal storage disorder
- dilated-hypokinetic cardiomyopathy due to lysosomal storage disorder
- Dilated cardiomyopathy due to mucopolysaccharidoses
- dilated-hypokinetic cardiomyopathy due to mucopolysaccharidoses
- Dilated cardiomyopathy due to sphingolipidoses
- dilated-hypokinetic cardiomyopathy due to sphingolipidoses
- Dilated cardiomyopathy due to Gaucher disease
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