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HEREDITARY DISEASE DETECTION遗传病检测

心血管病

 

心血管病检测包共收录与心血管病相关213个基因,271种疾病。如:家族性肥厚型心肌病、 扩张型心肌病、限制型心肌病、左室心肌致密化不全等。

 

主要疾病如下:

1

Cardiomyopathy, hypertrophic, 1

肥厚型心肌病,1

2

Cardiomyopathy, hypertrophic, 1, digenic

肥厚型心肌病,1

3

Cardiomyopathy, hypertrophic, 2

肥厚型心肌病,2

4

Cardiomyopathy, hypertrophic, 3

肥厚型心肌病,3

5

Cardiomyopathy, hypertrophic, 4

肥厚型心肌病,4

6

Cardiomyopathy, hypertrophic 6

肥厚型心肌病,6

7

Cardiomyopathy, hypertrophic, 7

肥厚型心肌病,7

8

Cardiomyopathy, hypertrophic, 8

肥厚型心肌病,8

9

Cardiomyopathy, familial hypertrophic, 9

肥厚型心肌病,9型,家族性

10

Cardiomyopathy, hypertrophic, 10

肥厚型心肌病,10

11

Cardiomyopathy, hypertrophic, 11

肥厚型心肌病,11

12

Cardiomyopathy, hypertrophic, 12

肥厚型心肌病,12

13

Cardiomyopathy, hypertrophic, 13

肥厚型心肌病,13

14

Cardiomyopathy, hypertrophic, 14

肥厚型心肌病,14

15

Cardiomyopathy, hypertrophic, 15

肥厚型心肌病,15

16

Cardiomyopathy, hypertrophic, 16

肥厚型心肌病,16

17

Cardiomyopathy, hypertrophic, 17

肥厚型心肌病,17

18

Cardiomyopathy, hypertrophic, 18

肥厚型心肌病,18

19

?Cardiomyopathy, hypertrophic, 19

?肥厚型心肌病,19

20

Cardiomyopathy, hypertrophic, 22

肥厚型心肌病,22

21

Cardiomyopathy, hypertrophic, 24

肥厚型心肌病,24

22

Cardiomyopathy, hypertrophic, 25

肥厚型心肌病,25

23

Cardiomyopathy, hypertrophic, 23, with or without LVNC

肥厚型心肌病,23型伴或不伴LVNC

24

Cardiomyopathy, familial hypertrophic

肥厚型心肌病,家族性

25

Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy

耳聋,常染色体显性遗传(22型)伴肥厚型心肌病

26

Cardiomyopathy, familial restrictive, 1

家族性限制型心肌病,1

27

Cardiomyopathy, familial restrictive, 3

家族性限制型心肌病,3

28

Cardiomyopathy, familial restrictive, 4

家族性限制型心肌病,4

29

Cardiomyopathy, dilated, 1A

扩张型心肌病,1A

30

Cardiomyopathy, dilated, 1AA, with or without LVNC

扩张型心肌病,1AA型,伴或不伴LVNC

31

Cardiomyopathy, dilated, 1BB

扩张型心肌病,1BB

32

Cardiomyopathy, dilated, 1C, with or without LVNC

扩张型心肌病,1C型,伴或不伴LVNC

33

Cardiomyopathy, dilated, 1CC

扩张型心肌病,1CC

34

Cardiomyopathy, dilated, 1DD

扩张型心肌病,1DD

35

Cardiomyopathy, dilated, 1D

扩张型心肌病,1D

36

Cardiomyopathy, dilated, 1EE

扩张型心肌病,1EE

37

Cardiomyopathy, dilated, 1E

扩张型心肌病,1E

38

Cardiomyopathy, dilated, 1FF

扩张型心肌病,1FF

39

Cardiomyopathy, dilated, 1GG

扩张型心肌病,1GG

40

Cardiomyopathy, dilated, 1G

扩张型心肌病,1G

41

Cardiomyopathy, dilated, 1II

扩张型心肌病,1II

42

Cardiomyopathy, dilated, 1I

扩张型心肌病,1I

43

Cardiomyopathy, dilated, 1JJ

扩张型心肌病,1JJ

44

Cardiomyopathy, dilated, 1J

扩张型心肌病,1J

45

Cardiomyopathy, dilated, 1KK

扩张型心肌病,1KK

46

Cardiomyopathy, dilated, 1L

扩张型心肌病,1L

47

Cardiomyopathy, dilated, 1LL

扩张型心肌病,1LL

48

?Cardiomyopathy, dilated, 1M

?扩张型心肌病,1M

49

Cardiomyopathy, dilated, 1MM

扩张型心肌病,1MM

50

Cardiomyopathy, dilated, 1NN

扩张型心肌病,1NN

51

Cardiomyopathy, dilated, 1O

扩张型心肌病,1O

52

Cardiomyopathy, dilated, 1P

扩张型心肌病,1P

53

Cardiomyopathy, dilated, 1R

扩张型心肌病,1R

54

Cardiomyopathy, dilated, 1S

扩张型心肌病,1S

55

Cardiomyopathy, dilated, 1T

扩张型心肌病,1T

56

Cardiomyopathy, dilated, 1U

扩张型心肌病,1U

57

Cardiomyopathy, dilated, 1V

扩张型心肌病,1V

58

Cardiomyopathy, dilated, 1W

扩张型心肌病,1W

59

Cardiomyopathy, dilated, 1X

扩张型心肌病,1X

60

Cardiomyopathy, dilated, 1Y

扩张型心肌病,1Y

61

Cardiomyopathy, dilated, 1Z

扩张型心肌病,1Z

62

?Cardiomyopathy, dilated, 2A

?扩张型心肌病,2A

63

?Cardiomyopathy, dilated, 2B

?扩张型心肌病,2B

64

Cardiomyopathy, dilated, 3B

扩张型心肌病,3B

65

Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis

扩张型心肌病伴羊毛状发,角皮病和牙发育不全

66

Cardiomyopathy, dilated, with woolly hair and keratoderma

扩张型心肌病伴羊毛状发和角皮病

67

Left ventricular noncompaction 1, with or without congenital heart defects

左心室心肌致密化不全,1型,伴或不伴先天性心脏病

68

Left ventricular noncompaction 3

左心室心肌致密化不全,3

69

Left ventricular noncompaction 4

左心室心肌致密化不全,4

70

Left ventricular noncompaction 5

左心室心肌致密化不全,5

71

Left ventricular noncompaction 6

左心室心肌致密化不全,6

72

Left ventricular noncompaction 7

左心室心肌致密化不全,7

73

Left ventricular noncompaction 8

左心室心肌致密化不全,8

74

Left ventricular noncompaction 9

左心室心肌致密化不全,9

75

Left ventricular noncompaction 10

左心室心肌致密化不全,10

76

Myopathy, early-onset, with fatal cardiomyopathy

早发型肌病伴致命性心肌病

77

Ventricular tachycardia, catecholaminergic polymorphic, 1

儿茶酚胺敏感性多形性室性心动过速,1

78

Ventricular tachycardia, catecholaminergic polymorphic, 2

儿茶酚胺敏感性多形性室性心动过速,2

79

Ventricular tachycardia, catecholaminergic polymorphic, 4

儿茶酚胺敏感性多形性室性心动过速,4

80

Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness

儿茶酚胺敏感性多形性室性心动过速,5型,伴或不伴肌无力

81

Aortic aneurysm, familial thoracic 4

家族性胸主动脉瘤,4

82

Aortic aneurysm, familial thoracic 6

家族性胸主动脉瘤,6

83

Aortic aneurysm, familial thoracic 7

家族性胸主动脉瘤,7

84

Aortic aneurysm, familial thoracic 8

家族性胸主动脉瘤,8

85

Pulmonary hypertension, primary, 2

原发性肺动脉高压,2

86

Pulmonary hypertension, primary, 4

原发性肺动脉高压,4

87

Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated

原发性肺动脉高压,芬氟拉明或右芬氟拉明相关性

88

Pulmonary hypertension, familial primary, 1, with or without HHT

家族性原发性肺动脉高压(1型)伴或不伴HHT

89

Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis

高尿酸血症、肺动脉高压、肾衰和碱中毒

90

Arterial tortuosity syndrome

动脉迂曲综合征

91

Supravalvar aortic stenosis

主动脉瓣上狭窄

92

Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1

脑动脉病伴皮层下梗死和脑白质病变,1

93

Atrial septal defect 3

房间隔缺损,3

94

Atrial septal defect 4

房间隔缺损,4

95

Atrial septal defect 5

房间隔缺损,5

96

Atrial septal defect 6

房间隔缺损,6

97

Atrial septal defect 7, with or without AV conduction defects

房间隔缺损,7型,伴或不伴房室传导缺陷

98

Atrial septal defect 9

房间隔缺损,9

99

{Atrioventricular septal defect, susceptibility to, 2}

{房室间隔缺损,2型,易感性}

100

Atrioventricular septal defect 4

房室间隔缺损,4

101

Atrioventricular septal defect 5

房室间隔缺损,5

102

Ventricular septal defect 1

室中隔缺损,1

103

Ventricular septal defect 3

室中隔缺损,3

104

Atrial fibrillation, familial, 3

家族性心房颤动,3

105

Atrial fibrillation, familial, 4

家族性心房颤动,4

106

Atrial fibrillation, familial, 6

家族性心房颤动,6

107

Atrial fibrillation, familial, 7

家族性心房颤动,7

108

Atrial fibrillation, familial, 9

家族性心房颤动,9

109

Atrial fibrillation, familial, 10

家族性心房颤动,10

110

Atrial fibrillation, familial, 11

家族性心房颤动,11

111

Atrial fibrillation, familial, 12

家族性心房颤动,12

112

Atrial fibrillation, familial, 13

家族性心房颤动,13

113

Atrial fibrillation, familial, 14

家族性心房颤动,14

114

Atrial fibrillation, familial, 16

家族性心房颤动,16

115

Atrial fibrillation, familial, 17

家族性心房颤动,17

116

?Atrial fibrillation 15

?心房颤动,15

117

Atrial septal defect 2

心房间隔缺损,2

118

Atrial standstill 2

心房静止,2

119

Atrial standstill, digenic

心房静止

120

Tetralogy of Fallot

法乐氏四联症

121

Tetralogy of Fallot

法乐氏四联症

122

Tetralogy of Fallot

法乐氏四联症

123

Tetralogy of Fallot

法乐氏四联症

124

Tetrology of Fallot

法乐氏四联症

125

Pheochromocytoma

嗜铬细胞瘤

126

Pheochromocytoma

嗜铬细胞瘤

127

Pheochromocytoma

嗜铬细胞瘤

128

Pheochromocytoma

嗜铬细胞瘤

129

{Pheochromocytoma, susceptibility to}

{嗜铬细胞瘤,易感性}

130

{Pheochromocytoma, susceptibility to}

{嗜铬细胞瘤,易感性}

131

Brugada syndrome 1

Brugada综合征,1

132

Brugada syndrome 2

Brugada综合征,2

133

Brugada syndrome 3

Brugada综合征,3

134

Brugada syndrome 4

Brugada综合征,4

135

Brugada syndrome 5

Brugada综合征,5

136

Brugada syndrome 6

Brugada综合征,6

137

Brugada syndrome 7

Brugada综合征,7

138

Brugada syndrome 8

Brugada综合征,8

139

Brugada syndrome 9

Brugada综合征,9

140

Ehlers-Danlos syndrome, type IV

Ehlers-Danlos综合征,IV

141

Ehlers-Danlos syndrome, cardiac valvular form

Ehlers-Danlos综合征,心脏瓣膜形态

142

Alagille syndrome

Alagille综合征

143

Andersen syndrome

Andersen综合征

144

Axenfeld-Rieger syndrome, type 1

Axenfeld-Rieger综合征,1

145

Barth syndrome

Barth综合征

146

Holt-Oram syndrome

Holt-Oram综合征

147

Ischiocoxopodopatellar syndrome

Ischiocoxopodopatellar综合征

148

Jervell and Lange-Nielsen syndrome

JervellLange-Nielsen综合征

149

Jervell and Lange-Nielsen syndrome 2

JervellLange-Nielsen综合征,2

150

Knobloch syndrome, type 1

Knobloch综合征,1

151

Liddle syndrome

Liddle综合征(即假性醛固酮增多症)

152

Loeys-Dietz syndrome 1

Loeys-Dietz综合征,1

153

Loeys-Dietz syndrome 2

Loeys-Dietz综合征,2

154

Loeys-Dietz syndrome 3

Loeys-Dietz综合征,3

155

Loeys-Dietz syndrome 4

Loeys-Dietz综合征,4

156

Loeys-Dietz syndrome 5

Loeys-Dietz综合征,5

157

Myhre syndrome

Myhre综合征

158

Ritscher-Schinzel syndrome 1

Ritscher-Schinzel综合征,1

159

Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic

Schimmelpenning-Feuerstein-Mims综合征,体细胞嵌合体

160

Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic

Schimmelpenning-Feuerstein-Mims综合征,体细胞嵌合体

161

Timothy syndrome

Timothy综合征

162

Weill-Marchesani syndrome 2, dominant

Weill-Marchesani综合征,2型,显性遗传

163

Wolff-Parkinson-White syndrome

Wolff-Parkinson-White综合征

164

LEOPARD syndrome 1

豹皮综合征,1

165

LEOPARD syndrome 2

豹皮综合征,2

166

LEOPARD syndrome 3

豹皮综合征,3

167

Apparent mineralocorticoid excess

表象性盐皮质激素过多综合征

168

Sick sinus syndrome 1

病态窦房结综合征,1

169

Sick sinus syndrome 2

病态窦房结综合征,2

170

{Sick sinus syndrome 3}

{病态窦房结综合征,3}

171

Atrioventricular septal defect, partial, with heterotaxy syndrome

部分性房室间隔缺损伴内脏异位综合征

172

Hypoplastic left heart syndrome 2

左心发育不良综合征,2

173

Multiple mitochondrial dysfunctions syndrome 1

多发性线粒体功能紊乱综合征,1

174

Lateral meningocele syndrome

脊柱旁脊膜膨出综合征

175

Episodic pain syndrome, familial, 2

家族性发作性疼痛综合征,2

176

Marfan syndrome

马凡综合征

177

Noonan syndrome 1

努南综合征,1

178

Noonan syndrome 3

努南综合征,3

179

Noonan syndrome 4

努南综合征,4

180

Noonan syndrome 4

努南综合征,4

181

Noonan syndrome 5

努南综合征,5

182

Noonan syndrome 6

努南综合征,6

183

Noonan syndrome 7

努南综合征,7

184

Noonan syndrome 8

努南综合征,8

185

Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)

线粒体DNA耗竭综合征,12型(心肌病型)

186

Cardiofaciocutaneous syndrome

--皮肤综合征

187

Cardiofaciocutaneous syndrome 2

--皮肤综合征,2

188

Cardiofaciocutaneous syndrome 3

--皮肤综合征,3

189

Cardiofaciocutaneous syndrome 4

--皮肤综合征,4

190

Heart-hand syndrome, Slovenian type

-手综合征,Slovenian

191

{Long QT syndrome 1, acquired, susceptibility to}

{后天获得性长QT综合征,1型,易感性}

192

{Long QT syndrome 2, acquired, susceptibility to}

{后天获得性长QT综合征,2型,易感性}

193

{Long QT syndrome, acquired, reduced susceptibility to}

{后天获得性长QT综合征,易感性降低}

194

Long QT syndrome 1

QT综合征,1

195

Long QT syndrome 2

QT综合征,2

196

Long QT syndrome-3

QT综合征,3

197

Long QT syndrome 4

QT综合征,4

198

Long QT syndrome 5

QT综合征,5

199

Long QT syndrome 6

QT综合征,6

200

Long QT syndrome-10

QT综合征,10

201

?Long QT syndrome-11

?QT综合征,11

202

Long QT syndrome 12

QT综合征,12

203

Long QT syndrome 13

QT综合征,13

204

Long QT syndrome 14

QT综合征,14

205

Long QT syndrome 15

QT综合征,15

206

Short QT syndrome 1

QT综合征,1

207

Short QT syndrome 2

QT综合征,2

208

Short QT syndrome 3

QT综合征,3

209

?Testicular anomalies with or without congenital heart disease

?睾丸畸形伴或不伴先天性心脏病

210

Pancreatic agenesis and congenital heart defects

胰腺不发育和先天性心脏病

211

Glycogen storage disease of heart, lethal congenital

致命性先天性心型糖原贮积病

212

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2

致命性婴儿型心脑肌病,2型,由于细胞色素c氧化酶缺乏导致的

213

?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3

?致命性婴儿型心脑肌病,3型,由于细胞色素c氧化酶缺乏导致的

214

Conotruncal heart malformations, variable

心脏圆锥干畸形,变异型

215

Cardiac arrhythmia, ankyrin-B-related

ankyrin-B相关性心律失常

216

Heart block, progressive, type IA

进行性心脏传导阻滞,IA

217

Progressive familial heart block, type IB

进行性心脏传导阻滞,IB型,家族性

218

Heart block, nonprogressive

非进行性心脏传导阻滞

219

Cardiac conduction defect, nonspecific

非特异性心脏传导障碍

220

Ventricular fibrillation, familial, 1

家族性心室颤动,1

221

Arrhythmogenic right ventricular dysplasia, familial, 13

家族性致心律失常性右室发育不良,13

222

Arrhythmogenic right ventricular dysplasia 1

致心律失常性右室发育不良,1

223

Arrhythmogenic right ventricular dysplasia 2

致心律失常性右室发育不良,2

224

Arrhythmogenic right ventricular dysplasia 8

致心律失常性右室发育不良,8

225

Arrhythmogenic right ventricular dysplasia 9

致心律失常性右室发育不良,9

226

Arrhythmogenic right ventricular dysplasia 10

致心律失常性右室发育不良,10

227

Arrhythmogenic right ventricular dysplasia 11

致心律失常性右室发育不良,11

228

Arrhythmogenic right ventricular dysplasia 12

致心律失常性右室发育不良,12

229

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

遗传性出血性毛细血管扩张综合征,青少年型

230

Telangiectasia, hereditary hemorrhagic, type 1

遗传性出血性毛细血管扩张症,1

231

Telangiectasia, hereditary hemorrhagic, type 2

遗传性出血性毛细血管扩张症,2

232

{Hypertension, essential, susceptibility to}

{原发性高血压,易感性}

233

Hypertension, essential

{原发性高血压}

234

Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy

早发型高血压(常染色体显性遗传)伴妊娠期恶化

235

Leiomyomatosis and renal cell cancer

平滑肌瘤病和肾细胞癌

236

Friedreich ataxia

Friedreich型共济失调

237

{Osteoarthritis susceptibility 1}

{骨关节炎,易感性,1}

238

Fabry disease

法布里病

239

Danon disease

Danon

240

Naxos disease

Naxos

241

Emery-Dreifuss muscular dystrophy 1, X-linked

Emery-Dreifuss肌营养不良,1型,X连锁遗传

242

Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Emery-Dreifuss肌营养不良,4型,常染色体显性遗传

243

Emery-Dreifuss muscular dystrophy 6, X-linked

Emery-Dreifuss肌营养不良,6型,X连锁遗传

244

Emery-Dreifuss muscular dystrophy 2, AD

Emery-Dreifuss型肌营养不良,2型,AD

245

Emery-Dreifuss muscular dystrophy 3, AR

Emery-Dreifuss型肌营养不良,3型,AR

246

Bethlem myopathy 1

Bethlem肌病,1

247

Bethlem myopathy 1

Bethlem肌病,1

248

Becker muscular dystrophy

Becker型肌营养不良症

249

Duchenne muscular dystrophy

Duchenne型肌营养不良症

250

Muscular dystrophy, congenital merosin-deficient

Merosin缺陷性先天性肌营养不良

251

?Muscular dystrophy, limb-girdle, type 2X

?肢带型肌营养不良,2X

252

Reducing body myopathy, X-linked 1b, with late childhood or adult onset

还原体肌病,X连锁隐性遗传,1b型,伴儿童晚期或成年人发病

253

Myopathy, X-linked, with postural muscle atrophy

肌病,X连锁遗传,伴体位性肌肉萎缩

254

Preeclampsia/eclampsia 5

惊厥前期/子痫,5

255

?Epileptic encephalopathy, early infantile, 47

早期幼儿癫痫性脑病,47

256

Retinal cone dystrophy 4

视锥细胞营养不良,4

257

Craniofrontonasal dysplasia

颅额鼻发育不良

258

Acromesomelic dysplasia, Demirhan type

肢端肢中发育不良,Demirhan

259

Surfactant metabolism dysfunction, pulmonary, 3

肺表面活性物质功能障碍,3

260

Pulmonary venoocclusive disease 1

肺静脉闭塞性疾病,1

261

Paragangliomas 3

副神经节瘤,3

262

Paragangliomas 4

副神经节瘤,4

263

Paraganglioma and gastric stromal sarcoma

副神经节瘤和胃间质肉瘤

264

Pseudohypoaldosteronism, type I

假性醛固酮减少症,I

265

Pseudohypoaldosteronism, type IID

假性醛固酮减少症,IID

266

Pseudohypoaldosteronism, type IIE

假性醛固酮减少症,IIE

267

Hyperaldosteronism, familial, type III

家族性高醛固酮血症,III

268

Lipodystrophy, familial partial, type 3

家族性部分性脂肪营养不良,3

269

Combined oxidative phosphorylation deficiency 9

联合性氧化磷酸化缺乏症,9

270

Combined oxidative phosphorylation deficiency 10

联合性氧化磷酸化缺乏症,10

271

Combined oxidative phosphorylation deficiency 17

联合性氧化磷酸化缺乏症,17

272

Agnathia-otocephaly complex

无下颌并耳畸形复合症

273

Myopathy, congenital, with fiber-type disproportion 1

先天性肌病伴纤维型比例失调,1

274

Myopathy, actin, congenital, with excess of thin myofilaments

先天性肌动蛋白积聚性肌病伴细肌丝过量

275

Myopathy, actin, congenital, with cores

先天性肌动蛋白积聚性肌病伴轴空病

276

Congenital disorder of glycosylation, type Im

先天性糖蛋白糖基化缺陷,Im

277

Mitochondrial complex I deficiency

线粒体复合物I缺乏

278

Mitochondrial respiratory chain complex II deficiency

线粒体呼吸链复合物II缺陷

279

Mitochondrial phosphate carrier deficiency

线粒体磷酸运载体缺乏症

280

Nemaline myopathy 3, autosomal dominant or recessive

线状体肌病,3型,常染色体显性遗传或隐性遗传

281

Insulin resistance, severe, digenic

重度胰岛素抵抗

 

 

 

 

 

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