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HEREDITARY DISEASE DETECTION遗传病检测

遗传性肌病检测包

 

遗传性肌病检测包共收录与遗传性肌病相关167个基因,261种疾病。如:杜氏/贝氏肌营养不良、肢带型肌营养不良、先天性肌营养不良、先天性骨骼肌病等。

 

1

Duchenne muscular dystrophy; Becker muscular dystrophy

杜氏/贝氏肌营养不良 DMD BMD

2

Emery-Dreifuss muscular dystrophy,X-linked, type 1

Emery-Dreifuss肌营养不良 EMD X连锁1

3

Emery-Dreifuss muscular dystrophy 6, X-linked

Emery-Dreifuss肌营养不良 EMD X连锁6

4

Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Emery-Dreifuss肌营养不良 4型 常染色体显性

5

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Emery-Dreifuss肌营养不良 5型 常染色体显性

6

Emery-Dreifuss muscular dystrophy 7, AD

Emery-Dreifuss肌营养不良 7型 常染色体显性

7

Emery-Dreifuss muscular dystrophy,autosomal dominant

Emery-Dreifuss肌营养不良  EMD 常染色体显性

8

Emery-Dreifuss muscular dystrophy,autosomal recessive

Emery-Dreifuss肌营养不良  EMD 常染色体隐性

9

Limb girdle muscular dystrophies LGMD1A

肢带型肌营养不良1A

10

Limb girdle muscular dystrophies LGMD1B

肢带型肌营养不良1B

11

Limb girdle muscular dystrophies LGMD1C

肢带型肌营养不良1C

12

Limb girdle muscular dystrophies LGMD1E

肢带型肌营养不良1E

13

Limb girdle muscular dystrophies LGMD1F

肢带型肌营养不良1F

14

Limb girdle muscular dystrophies LGMD2A

肢带型肌营养不良2A

15

Limb girdle muscular dystrophies LGMD2B

肢带型肌营养不良2B

16

Limb girdle muscular dystrophies LGMD2C

肢带型肌营养不良2C

17

Limb girdle muscular dystrophies LGMD2D

肢带型肌营养不良2D

18

Limb girdle muscular dystrophies LGMD2E

肢带型肌营养不良2E

19

Limb girdle muscular dystrophies LGMD2F

肢带型肌营养不良2F

20

Limb girdle muscular dystrophies LGMD2G

肢带型肌营养不良2G

21

Limb girdle muscular dystrophies LGMD2H

肢带型肌营养不良2H

22

Limb girdle muscular dystrophies LGMD2I

肢带型肌营养不良2I

23

Limb girdle muscular dystrophies LGMD2J

肢带型肌营养不良2J

24

Limb girdle muscular dystrophies LGMD2K

肢带型肌营养不良2K

25

Limb girdle muscular dystrophies LGMD2L

肢带型肌营养不良2L

26

Limb girdle muscular dystrophies LGMD2M

肢带型肌营养不良2M

27

Limb girdle muscular dystrophies LGMD2N

肢带型肌营养不良2N

28

Limb girdle muscular dystrophies LGMD2O

肢带型肌营养不良2O

29

Limb girdle muscular dystrophies LGMD2P

肢带型肌营养不良2P

30

Limb girdle muscular dystrophies LGMD2Q

肢带型肌营养不良2Q

31

Limb girdle muscular dystrophies LGMD2R

肢带型肌营养不良2R

32

Limb girdle muscular dystrophies LGMD2S

肢带型肌营养不良2S

33

Limb girdle muscular dystrophies LGMD2T

肢带型肌营养不良2T

34

Limb girdle muscular dystrophies LGMD2U

肢带型肌营养不良2U

35

?Muscular dystrophy, limb-girdle, type 2Y

肢带型肌营养不良2Y

36

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 

先天性肌营养不良 MDDGA1

37

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2

先天性肌营养不良 MDDGA2

38

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3

先天性肌营养不良 MDDGA3

39

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4

先天性肌营养不良 MDDGA4

40

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5

先天性肌营养不良 MDDGA5

41

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6

先天性肌营养不良 MDDGA6

42

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7

先天性肌营养不良 MDDGA7

43

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8

先天性肌营养不良 MDDGA8

44

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9

先天性肌营养不良 MDDGA9

45

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10

先天性肌营养不良 MDDGA10

46

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11

先天性肌营养不良 MDDGA11

47

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12

先天性肌营养不良 MDDGA12

48

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13

先天性肌营养不良 MDDGA13

49

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14

先天性肌营养不良 MDDGA14

50

Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1

先天性肌营养不良 MDDGB1

51

Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2

先天性肌营养不良 MDDGB2

52

Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3

先天性肌营养不良 MDDGB3

53

Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4

先天性肌营养不良 MDDGB4

54

Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5

先天性肌营养不良 MDDGB5

55

Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6

先天性肌营养不良 MDDGB6

56

Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14

先天性肌营养不良 MDDGB14

57

Ullrich congenital muscular dystrophy 1

Ullrich先天性肌营养不良 1

58

Ullrich congenital muscular dystrophy 1

Ullrich先天性肌营养不良 1

59

Ullrich congenital muscular dystrophy 1

Ullrich先天性肌营养不良 1

60

?Ullrich congenital muscular dystrophy 2

?Ullrich先天性肌营养不良 2

61

Muscular dystrophy, congenital

先天性肌营养不良

62

Muscular dystrophy, congenital merosin-deficient

先天性肌营养不良 MDC1A

63

Muscular dystrophy, congenital, due to partial LAMA2 deficiency

先天性肌营养不良 由于部分性LAMA2缺乏导致的

64

Congenital muscular dystrophy with integrin defect

先天性肌营养不良 伴Integrinα7缺陷

65

Rigid spine syndrome

先天性肌营养不良 Rigid spine 综合征

66

Congenital muscle dystrophy with mitochondrial structural abnormalities (megaconial type)

先天性肌营养不良症伴线粒体结构异常

67

Miyoshi muscular dystrophy 1

Miyoshi肌营养不良 1

68

Miyoshi muscular dystrophy 3

Miyoshi肌营养不良 3

69

Muscular dystrophy with epidermolysis bullosa simplex

肌营养不良症伴单纯型大疱性表皮松解症

70

Tibial muscular dystrophy (Udd)

胫骨肌营养不良症

71

Oculopharyngeal muscular dystrophy

眼咽型肌营养不良

72

Facio-scapulohumeral muscular dystrophy

Facio-scapulohumeral肌营养不良

73

Myotonic dystrophy 1

强直性肌营养不良 1

74

Myopathy, congenital, with fiber-type disproportion

纤维类型不相称型先天性肌病

75

Myopathy, congenital, with fiber-type disproportion

纤维类型不相称型先天性肌病

76

Myopathy,congenital, with fiber-type disproportion

纤维类型不相称型先天性肌病

77

?Myopathy, congenital, Compton-North

?先天性 Compton-North肌病

78

Neuromuscular disease, congenital, with uniform type 1 fiber

先天性神经肌肉病伴单一型纤维肌病

79

Myasthenic syndrome, congenital, 1A, slow-channel

先天性肌无力综合征1A型 慢通道型

80

Myasthenic syndrome, congenital, 1B, fast-channel

先天性肌无力综合征1B型 快通道型

81

Myasthenic syndrome, congenital, 2A, slow-channel

先天性肌无力综合征2A型 慢通道型

82

?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency

先天性肌无力综合征2C型乙酰胆碱受体缺乏型

83

?Myasthenic syndrome, congenital, 3A, slow-channel

先天性肌无力综合征3A型 慢通道型

84

Myasthenic syndrome, congenital, 3B, fast-channel

先天性肌无力综合征3B型 快通道型

85

?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency

先天性肌无力综合征3C型乙酰胆碱受体缺乏型

86

Myasthenic syndrome, congenital, 4A, slow-channel

先天性肌无力综合征4A型 慢通道型

87

Myasthenic syndrome, congenital, 4B, fast-channel

先天性肌无力综合征4B型 快通道型

88

Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency

先天性肌无力综合征4C型乙酰胆碱受体缺乏型

89

Myasthenic syndrome, congenital, 5

先天性肌无力综合征5

90

Myasthenic syndrome, congenital, 6, presynaptic

先天性肌无力综合征6型 突触前型

91

Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects

先天性肌无力综合征8型伴前后突触缺陷

92

Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency

先天性肌无力综合征9型乙酰胆碱受体缺陷相关

93

Myasthenic syndrome, congenital, 10

先天性肌无力综合征10

94

Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency

先天性肌无力综合征10型乙酰胆碱受体缺陷相关

95

Myasthenic syndrome, congenital, 16

先天性肌无力综合征16

96

?Myasthenic syndrome, congenital, 17

先天性肌无力综合征17

97

Dystonia-11, myoclonic

肌阵挛性肌张力障碍11

98

Dystonia 27

肌张力障碍27

99

Bethlem myopathy 1

Bethlem 肌病1

100

Bethlem myopathy 1

Bethlem 肌病1

101

Bethlem myopathy 1

Bethlem 肌病1

102

Bethlem myopathy 2

Bethlem 肌病2

103

Charcot-Marie-Tooth disease, dominant intermediate B

腓骨肌萎缩症 中间显性遗传 B

104

Charcot-Marie-Tooth disease, type 2B1

腓骨肌萎缩症 2B1

105

Charcot-Marie-Tooth disease, axonal, type 2M

轴突型腓骨肌萎缩症 2M

106

Charcot-Marie-Tooth disease, type 2Y

腓骨肌萎缩症 2Y

107

?Myopathy, scapulohumeroperoneal

?腓骨肌萎缩症

108

Lethal congenital contracture syndrome 5

致命性先天性肌挛缩综合征 5

109

Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia

肌萎缩侧索硬化伴或不伴额颞痴呆 14

110

X-linked myopathy with postural muscle atrophy

X-连锁肌病伴随姿势性肌萎缩

111

Nemaline myopathy 1, autosomal dominant or recessive

杆状体肌病 2型 常染色体显性或隐性

112

Nemaline myopathy 2, autosomal recessive

杆状体肌病 2型 常染色体隐性

113

Nemaline myopathy 3

杆状体肌病 3

114

Nemaline myopathy 4

杆状体肌病 4

115

Nemaline myopathy 5 (Amish type)

杆状体肌病 5

116

Nemaline myopathy 6

杆状体肌病 6

117

Nemaline myopathy 7

杆状体肌病 7

118

Nemaline myopathy 8

杆状体肌病 8

119

Nemaline myopathy 9

杆状体肌病 9

120

Centronuclear myopathy, recessive

中央核性肌病 隐性

121

Centronuclear myopathy, dominant

中央核性肌病 显性

122

Centronuclear myopathy, dominant,3

中央核性肌病 显性 3

123

{Centronuclear myopathy, autosomal, modifier of}

中央核性肌病 显性

124

Centronuclear myopathy, dominant,4

中央核性肌病 显性 4

125

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

126

Myopathy, actin, congenital, with cores

先天性肌动蛋白积聚性肌病伴轴空病

127

Cardiomyopathy, familial hypertrophic

家族性肥厚型心肌病

128

Cardiomyopathy, familial hypertrophic

家族性肥厚型心肌病

129

Cardiomyopathy, hypertrophic, 4

肥厚型心肌病 4

130

Cardiomyopathy, dilated, 1G

扩张型心肌病 1G

131

Cardiomyopathy, dilated, 1X

扩张型心肌病 1X

132

Myopathy, early-onset, with fatal cardiomyopathy

早发型肌病伴致命性心肌病

133

Cardiomyopathy, familial restrictive 5

心肌病 家族性限制性 5

134

Myopathy, myosin storage, autosomal dominant

肌球蛋白贮积型肌病 常染色体显性遗传

135

Myopathy, myosin storage, autosomal recessive

肌球蛋白贮积型肌病 常染色体隐性遗传

136

Myopathy, distal, with anterior tibial onset

远端肌病胫骨前肌起病

137

Distal myopathy with rimmed vacuoles (Nonaka) and Hereditary inclusion body myopathy

远端肌病 (Nonaka)

138

Distal myopathy  (Laing)

远端肌病 (Laing)

139

Myopathy, distal, Tateyama type

远端型肌病 Tateyama

140

Myopathy, distal, 4

远端肌病 4

141

Welander Distal Myopathy

Welander远端肌病

142

Myopathy, spheroid body

球状体肌病

143

Nemaline myopathy 2, autosomal recessive

线状体肌病 2型 常染色体隐性遗传

144

Reducing body myopathy

还原体肌病

145

Hyaline body myopathy, dominant (myosin storage myopathy)

透明体肌病 显性

146

Myotubular Myopathy

肌管性肌病

147

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia

遗传性包涵体肌病伴Paget

148

Creatine phosphokinase, elevated serum

血清肌酸磷酸激酶升高

149

Scapuloperoneal myopathy

肩腓骨肌病

150

Muscle hypertrophy

肌肉肥大

151

Myostatin-related muscle hypertrophy

肌肉生长抑制素相关肌肉肥大

152

Rippling muscle disease, dominant

波纹肌肉病 显性

153

Brody myopathy

Brody肌病

154

Cap myopathy

CAP 肌病

155

Cap myopathy

CAP 肌病

156

Multiminicore disease with external ophtalmoplegia

微轴空肌病伴眼外肌麻痹

157

Proximal myopathy and ophthalmoplegia

近端肌病和眼肌麻痹

158

Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-onset; EMARDD

肌病 无反射 呼吸吞咽困难 早发(EMARDD)

159

Myopathy, areflexia, respiratory distress, and dysphagia,early-onset, mild variant

轻度变异型早发性肌病、反射消失、呼吸窘迫和吞咽困难

160

Vocal cord and pharyngeal dysfunction with distal myopathy; VCPDM /   
Amyotrophic lateral sclerosis 21

声带及吞咽功能障碍伴远端肌病/肌萎缩侧索硬化症 21

161

Myofibrillar myopathy, 1

肌原纤维肌病 MFM1

162

Myofibrillar myopathy, 2

肌原纤维肌病 MFM2

163

Myofibrillar myopathy, 3

肌原纤维肌病 MFM3

164

Myofibrillar myopathy, 4

肌原纤维肌病 MFM4

165

Myopathy, myofibrillar, 5

肌原纤维肌病 MFM5

166

Myofibrillar myopathy, 6

肌原纤维肌病 MFM6

167

Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related

肌原纤维肌病 αB crystallin相关性 致命性婴儿型肥大

168

Paramyotonia congenita

先天性肌强直症

169

Myotonia congenita, atypical, acetazolamide-responsive

非典型先天性肌强直 乙酰唑胺反应型

170

Myotonia congenita, dominant (Thomsen)

先天性肌强直 显性(Thomsen)

171

Myotonic dystrophy 2

肌强直性营养不良 2

172

Myotonia, recessive (Becker)

肌强直 隐性(Becker)

173

Myosclerosis

肌硬化症

174

Myasthenia, congenital, 12, with tubular aggregates

先天性肌强直 12型伴管状凝聚物

175

Myasthenic syndrome, congenital, 13, with tubular aggregates

先天性肌强直 13型伴管状凝聚物

176

Myasthenic syndrome, congenital, 14, with tubular aggregates

先天性肌强直 14型伴管状凝聚物

177

?Myasthenic syndrome, congenital, 15, without tubular aggregates

先天性肌强直 15型不伴管状凝聚物

178

Progressive external ophthalmoplegia, autosomal dominant 1

进行性眼外肌麻痹常染色体显性 1

179

Progressive external ophthalmoplegia, autosomal recessive 1

进行性眼外肌麻痹常染色体隐性 1

180

?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3

线粒体DNA缺失进行性眼外肌麻痹常染色体隐性 3

181

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4

线粒体DNA缺失进行性眼外肌麻痹常染色体显性 4

182

Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

周围神经病 肌病 声音嘶哑伴耳聋

183

Mitochondrial myopathy and sideroblastic anemia/
Myopathy, Lactic Acidosis, and Sideroblastic Anemia,1

线粒体肌病和铁粒幼细胞性贫血/肌病-乳酸性酸中毒-铁粒幼细胞贫血 1

184


Myopathy, Lactic Acidosis, and Sideroblastic Anemia,2

肌病-乳酸性酸中毒-铁粒幼细胞贫血 2

185

Ehlers-Danlos syndrome

Ehlers-Danlos综合征

186

Ehlers-Danlos syndrome

Ehlers-Danlos综合征

187

Scapuloperoneal syndrome, myopathic type

肌病型肩腓肌综合征

188

Heart-hand syndrome, Slovenian type

-手综合征 Slovenian

189

Hutchinson-Gilford progeria

Hutchinson-Gilford早衰综合征

190

Ehlers-Danlos syndrome, musculocontractural type 1

Ehlers-Danlos综合征musculocontractural1

191

King-Denborough syndrome

King-Denborough综合征

192

Pierson syndrome

Pierson综合征

193

Escobar syndrome (multiple pterygium syndrome)

Escobar综合征

194

Brugada syndrome 6

Brugada综合征 6

195

Schwartz-Jampel syndrome

Schwartz-Jampel 综合征

196

Episodic ataxia/myokymia syndrome

发作性共济失调/myokymia综合征

197

TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form

TK2相关线粒体DNA缺失综合征

198

Mitochondrial DNA depletion syndrome 2 (myopathic type)/
TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form

线粒体DNA缺失综合征 2型(myopathic型)/TK2相关线粒体DNA缺失综合征Myopathic

199

Mitochondrial DNA depletion syndrome 10/Sengers syndrome

线粒体DNA缺失综合征 10/Sengers综合征

200

Sengers syndrome

Sengers综合征

201

Bruck syndrome 2

Bruck综合征2

202

Marinesco-Sjoegren syndrome (MSS) 

Marinesco-Sjoegren 综合症

203

Lethal congenital contracture syndrome 4

致死性先天性挛缩综合征 4

204

Lethal congenital contracture syndrome 5

致死性先天性挛缩综合征 5

205

Hereditary myopathy with early respiratory failure (Edstrom myopathy)

先天性疾病伴早期呼吸衰竭(Edstrom肌病)

206

Central core disease, dominant

中央轴空病 显性

207

Central core disease, recessive (transient multiminicore myopathy)

中央轴空病 隐性

208

Epileptic encephalopathy, early infantile, 36

早期幼儿癫痫性脑病 36

209

Congenital disorder of glycosylation, type Ie

先天性糖蛋白糖基化缺陷 Ie

210

Congenital disorder of glycosylation, type Ij

先天性糖蛋白糖基化缺陷 Ij

211

Congenital disorder of glycosylation, type Io

先天性糖蛋白糖基化缺陷 Im

212

Congenital disorder of glycosylation, type Io

先天性糖蛋白糖基化缺陷 Io

213

Congenital disorder of glycosylation, type Iu 

先天性糖蛋白糖基化缺陷 Iu

214

Congenital disorder of glycosylation, type Is

先天性糖蛋白糖基化缺陷 Is

215

Congenital disorder of glycosylation, type It

先天性糖蛋白糖基化缺陷 It

216

Lipodystrophy, familial partial, type 2

家族性部分性脂肪营养不良 2

217

Lipodystrophy, congenital generalized, type 4

先天性泛发性脂肪营养不良 4

218

Neutral lipid storage disease with myopathy without ichthyosis

脂质贮积病伴肌病不伴鱼鳞病

219

HyperCKemia,idiopathic

特发性高CK血症

220

Multiminicore disease, classical form

多轴空病

221

{Malignant hyperthermia susceptibility 1}

{恶性高热 易感性 1}

222

{Malignant hyperthermia susceptibility5}

{恶性高热 5}

223

Danon disease

Danon 

224

Slow channel syndromes

慢通道综合征

225

Slow channel syndromes

慢通道综合征

226

Slow channel syndromes

慢通道综合征

227

Slow channel syndromes

慢通道综合征

228

Fast channel syndromes

快通道综合征

229

Fast channel syndromes

快通道综合征

230

Fast channel syndromes

快通道综合征

231

Acetylcholine receptor deficiency

乙酰胆碱受体缺陷

232

Acetylcholine receptor deficiency

乙酰胆碱受体缺陷

233

Acetylcholine receptor deficiency

乙酰胆碱受体缺陷

234

Acetylcholine receptor deficiency

乙酰胆碱受体缺陷

235

Acetylcholine receptor deficiency

乙酰胆碱受体缺陷

236

Lysyl hydroxylase 3 deficiency

赖氨酰羟化酶-3缺乏

237

Arthrogryposis, Distal, Type 1b 

远端关节弯曲 1b

238

Arthrogryposis, Distal, Type 5 

远端关节弯曲 5

239

Arthrogryposis, Distal, Type 5d

远端关节弯曲 5d

240

Myopathy with exercise intolerance, Swedish type

疾病伴运动障碍

241

Trifunctional protein deficiency 

线粒体三功能蛋白缺陷

242

Hyperkalemic periodic paralysis, type 2

高钾性周期性瘫痪 2

243

Hypokalaemic periodic paralysis, type 1

低钾型周期性麻痹 1

244

Hypokalemic periodic paralysis, type 2

低钾性周期性瘫痪 2

245

Hypokalaemic periodic paralysis, type 3

低钾型周期性麻痹 3

246

Acetazolamide responsive hereditary paroxysmal cerebellar ataxia

乙酰唑胺反应性遗传性发作性小脑共济失调

247

Episodic ataxia

发作性共济失调

248

Episodic ataxia, type 2

发作性共济失调2

249

Glycogen storage disease type II (Pompe disease)

糖原贮积症II型 庞贝氏症

250

Glycogen storage disease type IIIa

糖原贮积症IIIa

251

Glycogen storage disease type IIIb

糖原贮积症IIIb

252

Glycogen storage disease type IV

糖原贮积症IV

253

Glycogen storage type V (McArdle)

糖原贮积症V

254

Glycogen storage type VII (Tarui)

糖原贮积症VII

255

Glycogen storage disease type IXd (ex type VIII) 

糖原贮积症Ixd VIII

256

Glycogenosis type XIV

糖原贮积病 XIV

257

Glycogenosis type XV

糖原贮积病 XV

258

Glycogen storage disease type 0

糖原贮积症0

259

Polyglucosan body myopathy 1 with or without immunodeficiency

葡萄糖多聚体肌病 1型伴或不伴免疫缺陷

260

Glycogen storage disease of heart, lethal congenital

先天致死性心脏型糖原贮积病

261

Posphoglycerate kinase deficiencey

磷酸甘油酸盐激酶缺乏症

262

Phosphoglycerate mutase deficiency

磷酸甘油麦芽糖酶缺乏症

263

Lactate dehydrogenase-A deficiency

乳酸脱氢酶缺乏症

264

Enolase deficiency/?Glycogen storage disease XIII

烯醇酶缺乏症/糖原贮积病XIII

265

Carnitine palmitoyltransferase deficiency

肉毒碱棕榈酰基转移酶缺乏

266

Carnitine/acylcarnitine translocase deficiency

肉碱脂酰转移酶缺乏症

267

Acyl-CoA dehydrogenase (very long chain) deficiency (VLCAD deficiency)

酰基辅酶A脱氢酶(长链)缺乏症

268

Recurrent myoglobinuria, autosomal recessive

复发性肌红蛋白尿

269

Triglyceride storage disease with ichthyosis

鱼鳞病患者甘油三酯贮积病

270

Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIA)

多种酰基辅酶A脱氢酶缺乏 IIA

271

Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIB)

多种酰基辅酶A脱氢酶缺乏 IIB

272

Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIC)

多种酰基辅酶A脱氢酶缺乏 IIC

273

Primary systemic carnitine deficiency

原发性系统性肉碱缺乏症

274

Glutaric acidemia IIC

戊二酸血症IIC

275

Mitochondrial complex I deficiency 

线粒体复合物I缺乏

276

Mitochondrial complex V deficiency

线粒体复合物V缺乏

277

Coenzyme Q10 deficiency, primary,4

原发性辅酶Q10缺乏4

278

Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) 

脑干和脊髓受累神经髓鞘形成不良伴腿部痉挛

279

Monocarboxylate transporter 8 deficiency 
(MCT8 deficiency)

单羧酸转运蛋白8缺乏

280

Fibrodysplasia ossificans progressiva

进行性骨化性纤维发育不良

281

Brody disease

布洛迪病

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