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HEREDITARY DISEASE DETECTION遗传病检测

周围神经病及痉挛性截瘫

 

周围神经病及痉挛性截瘫包共收录与周围神经病及痉挛性截瘫相关116个基因,170种疾病。如:腓骨肌萎缩症 、痉挛性截瘫、周围神经病变、先天性无痛无汗症等。


主要疾病如下:

1

Charcot-Marie-Tooth disease, type 1A

腓骨肌萎缩症 1A

2

Charcot-Marie-Tooth disease, type 1B

腓骨肌萎缩症 1B

3

Charcot-Marie-Tooth disease, type 1C

腓骨肌萎缩症 1C

4

Charcot-Marie-Tooth disease, type 1D

腓骨肌萎缩症 1D

5

Charcot-Marie-Tooth disease, type 1E

腓骨肌萎缩症 1E

6

Charcot-Marie-Tooth disease, type 1F

腓骨肌萎缩症 1F

7

Charcot-Marie-Tooth disease, type 1, 
X-linked dominant

腓骨肌萎缩症 1 X连锁显性

8

Charcot-Marie-Tooth disease, type 2A1

腓骨肌萎缩症 2A1

9

Charcot-Marie-Tooth disease, type 2A2

腓骨肌萎缩症 2A2

10

Charcot-Marie-Tooth disease, type 2B

腓骨肌萎缩症 2B

11

Charcot-Marie-Tooth disease, type 2B1

腓骨肌萎缩症 2B1

12

Charcot-Marie-Tooth disease, type 2B2

腓骨肌萎缩症 2B2

13

Charcot-Marie-Tooth disease, type 2D

腓骨肌萎缩症 2D

14

Charcot-Marie-Tooth disease, type 2E

腓骨肌萎缩症 2E

15

Charcot-Marie-Tooth disease, type 2F

腓骨肌萎缩症 2F

16

Charcot-Marie-Tooth disease, type 2I

腓骨肌萎缩症 2I

17

Charcot-Marie-Tooth disease, type 2J

腓骨肌萎缩症 2J

18

Charcot-Marie-Tooth disease, type 2K

腓骨肌萎缩症 2K

19

Charcot-Marie-Tooth disease, type 2L

腓骨肌萎缩症 2L

20

Charcot-Marie-Tooth disease, dominant intermediate B

腓骨肌萎缩症 中间显性遗传 B

21

Charcot-Marie-Tooth disease, type 2M

腓骨肌萎缩症 2M

22

Charcot-Marie-Tooth disease, type 2N

腓骨肌萎缩症 2N

23

Charcot-Marie-Tooth disease, type 2O

腓骨肌萎缩症 2O

24

Charcot-Marie-Tooth disease, type 2P

腓骨肌萎缩症 2P

25

Charcot-Marie-Tooth disease, type 2Q

腓骨肌萎缩症 2Q

26

Charcot-Marie-Tooth disease, type 2R

腓骨肌萎缩症 2R

27

Charcot-Marie-Tooth disease, type 3 (Dejerine-Sottas disease)

腓骨肌萎缩症 3 (Dejerine-Sottas disease)

28

Spinal muscular atrophy, distal, autosomal recessive, 4

脊髓性肌萎缩症 常染色体隐性遗传 4型 远端

29

Charcot-Marie-Tooth disease, type 4A

腓骨肌萎缩症 4A

30

Charcot-Marie-Tooth disease, type 4B1

腓骨肌萎缩症 4B1

31

Charcot-Marie-Tooth disease, type 4B2

腓骨肌萎缩症 4B2

32

Charcot-Marie-Tooth disease, type 4B3

腓骨肌萎缩症 4B3

33

Charcot-Marie-Tooth disease, type 4C

腓骨肌萎缩症 4C

34

Charcot-Marie-Tooth disease, type 4D

腓骨肌萎缩症 4D

35

Charcot-Marie-Tooth disease, type 4F

腓骨肌萎缩症 4F

36

Charcot-Marie-Tooth disease, type 4H

腓骨肌萎缩症 4H

37

Charcot-Marie-Tooth disease, type 4J

腓骨肌萎缩症 4J

38

Charcot-Marie-Tooth disease, type 5, X-linked recessive

腓骨肌萎缩症 5 X连锁隐性

39

Charcot-Marie-Tooth disease, type 6, X-linked dominant

腓骨肌萎缩症 6 X连锁显性

40

Charcot-Marie-Tooth disease, recessive intermediate A

腓骨肌萎缩症 中间型 A

41

Charcot-Marie-Tooth disease, recessive intermediate B

腓骨肌萎缩症 中间型 B

42

Charcot-Marie-Tooth disease, recessive intermediate C

腓骨肌萎缩症 中间型 C型 隐性

43

Charcot-Marie-Tooth disease, dominant intermediate C

腓骨肌萎缩症 中间型 C型 显性

44

Charcot-Marie-Tooth disease, dominant intermediate D

腓骨肌萎缩症 中间型 D

45

Charcot-Marie-Tooth disease, dominant intermediate E

腓骨肌萎缩症 中间型 E

46

Charcot-Marie-Tooth disease, dominant intermediate F

腓骨肌萎缩症 中间型 F

47

Charcot-Marie-Tooth disease, foot deformity of

腓骨肌萎缩症 足畸形型

48

Charcot-Marie-Tooth disease, axonal, with vocal cord paresis

腓骨肌萎缩症伴声带麻痹 轴突型

49

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

腓骨肌萎缩症 2S型 轴突型

50

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

腓骨肌萎缩症 2W型 轴突型

51

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

腓骨肌萎缩症 2X型 轴突型

52

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

腓骨肌萎缩症 2U型 轴突型

53

Spinal muscular atrophy, distal, autosomal recessive, 5

远端脊髓性肌萎缩症 常染色体隐性遗传 5

54

Spinal muscular atrophy, lower extremity-predominant 1, AD

脊髓性肌萎缩症 1 AD型 下肢显著型

55

Spinal muscular atrophy, lower extremity-predominant, 2, AD

脊髓性肌萎缩症 2 AD型 下肢显著型

56

Spinal muscular atrophy, distal, congenital nonprogressive

脊髓性肌萎缩症 先天性非进行性远端性

57

Spinal muscular atrophy, distal, X-linked 3

脊髓性肌萎缩症 X连锁遗传 3型 远端性

58

Scapuloperoneal spinal muscular atrophy

脊髓性肩腓肌萎缩症

59

Amyotrophic lateral sclerosis 4, juvenile

青少年型肌萎缩侧索硬化 4

60

Amyotrophic lateral sclerosis 5, juvenile

青少年型肌萎缩侧索硬化 5

61

Primary lateral sclerosis, juvenile

青少年型原发性侧索硬化症

62

Amyotrophic lateral sclerosis 9

肌萎缩侧索硬化 9

63

Emery-Dreifuss muscular dystrophy 3, AR

Emery-Dreifuss型肌营养不良 3 AR

64

Lethal congenital contracture syndrome 5

致命性先天性肌挛缩综合征 5

65

Myopathy, centronuclear

中央核性肌病

66

Neuropathy, congenital hypomyelinating

先天性髓鞘发育不良性神经病

67

Neuropathy, congenital hypomyelinating, 1

先天性髓鞘发育不良性神经病 1

68

Neuropathy, inflammatory demyelinating

炎性脱髓鞘性神经病

69

Neuropathy, recurrent, with pressure palsies

复发性神经病伴压迫性麻痹

70

Mononeuropathy of the median nerve, mild

轻度正中神经单神经病

71

Neuropathy, hereditary sensory, type IE

遗传性感觉神经病变 IE

72

Neuropathy, hereditary sensory, type IIC

遗传性感觉神经病变 IIC

73

Hereditary motor and sensory neuropathy, type IIc

遗传性运动和感觉神经病变 IIC

74

Hereditary motor and sensory neuropathy, type VI

遗传性运动和感觉神经病变 VI

75

Hereditary motor and sensory neuropathy, Okinawa type

遗传性运动和感觉性神经病 Okinawa

76

Hereditary motor and sensory neuropathy, Russe type

遗传性运动和感觉神经病变 Russe

77

Neuropathy, hereditary sensory, with spastic paraplegia

遗传性感觉神经病变伴痉挛性截瘫

78

Neuromyotonia and axonal neuropathy

神经性肌强直和秃轴神经病变

79

Neuropathy, distal hereditary motor, type IIA

遗传性远端运动神经病变 IIA

80

Neuropathy, distal hereditary motor, type IIB

遗传性远端运动神经病变 IIB

81

Neuropathy, distal hereditary motor, type IIC

遗传性远端运动神经病变 IIC

82

Neuropathy, distal hereditary motor, type VA

遗传性远端运动神经病变 VA

83

Neuropathy, distal hereditary motor, type VA

遗传性远端运动神经病变 VA

84

Neuropathy, distal hereditary motor, type VB

遗传性远端运动神经病变 VB

85

Neuropathy, distal hereditary motor, type VI

遗传性远端运动神经病变 VI

86

Neuropathy, distal hereditary motor, type VIIA

遗传性远端运动神经病变 VIIA

87

Neuropathy, distal hereditary motor, type VIIB

遗传性远端运动神经病变 VIIB

88

Neuropathy, hereditary sensory and autonomic, type IA

遗传性感觉和自主神经病变 IA

89

Neuropathy, hereditary sensory and autonomic, type IC

遗传性感觉和自主神经病变 IC

90

Neuropathy, hereditary sensory and autonomic, type II

遗传性感觉和自主神经病变 II

91

Neuropathy, hereditary sensory and autonomic, type IIB

遗传性感觉和自主神经病变 IIB

92

Neuropathy, hereditary sensory and autonomic, type V

遗传性感觉和自主神经病变 V

93

Peripheral neuropathy, myopathy, hoarseness, and hearing loss

周围神经病变、肌病、声音沙哑 听力损失

94

Dysautonomia, familial

家族性自主神经异常

95

Congenital cataracts, facial dysmorphism, and neuropathy

先天性白内障、面部先天性畸形和神经病变

96

Small fiber neuropathy

小纤维神经病

97

Mental retardation, autosomal dominant 9

精神发育迟滞 常染色体显性遗传 9

98

Mental retardation, autosomal dominant 13

精神发育迟滞 常染色体显性遗传 13

99

Neurodegeneration with brain iron accumulation 4

神经退行性疾病伴脑铁沉积 4

100

Epileptic encephalopathy, early infantile, 29

早期幼儿癫痫性脑病 29

101

Neuropathy, hereditary sensory, type ID

遗传性感觉神经病 ID

102

Spastic paraplegia 2

痉挛性截瘫 2

103

Spastic paraplegia 3

痉挛性截瘫 3

104

Spastic paraplegia 4

痉挛性截瘫 4

105

Spastic paraplegia 5A, autosomal recessive 

痉挛性截瘫 5A型 常隐

106

Spastic paraplegia 6

痉挛性截瘫 6

107

Spastic paraplegia 7

痉挛性截瘫 7

108

Spastic paraplegia 8

痉挛性截瘫 8

109

Spastic paraplegia 10

痉挛性截瘫 10

110

Spastic paraplegia 11

痉挛性截瘫 11

111

Spastic paraplegia 12

痉挛性截瘫 12

112

Spastic paraplegia 13

痉挛性截瘫 13

113

Spastic paraplegia 15

痉挛性截瘫 15

114

Spastic paraplegia 18

痉挛性截瘫 18

115

Spastic paraplegia 26

痉挛性截瘫 26

116

Spastic paraplegia 28

痉挛性截瘫 28

117

Spastic paraplegia 30

痉挛性截瘫 30

118

Spastic paraplegia 31

痉挛性截瘫 31

119

Spastic paraplegia 33

痉挛性截瘫 33

120

Spastic paraplegia 35

痉挛性截瘫 35

121

Spastic paraplegia 39

痉挛性截瘫 39

122

Spastic paraplegia 42

痉挛性截瘫 42

123

Spastic paraplegia 43

痉挛性截瘫 43

124

Spastic paraplegia 44

痉挛性截瘫 44

125

Spastic paraplegia 45

痉挛性截瘫 45

126

Spastic paraplegia 46

痉挛性截瘫 46

127

Spastic paraplegia 47

痉挛性截瘫 47

128

Spastic paraplegia 48

痉挛性截瘫 48

129

Spastic paraplegia 50

痉挛性截瘫 50

130

Spastic paraplegia 51

痉挛性截瘫 51

131

Spastic paraplegia 52

痉挛性截瘫 52

132

Spastic paraplegia 54

痉挛性截瘫 54

133

Spastic paraplegia 55

痉挛性截瘫 55

134

Spastic paraplegia 56

痉挛性截瘫 56

135

Spastic paraplegia 57

痉挛性截瘫 57

136

Spastic paraplegia 61

痉挛性截瘫 61

137

Spastic paraplegia 63

痉挛性截瘫 63

138

Spastic paraplegia 64

痉挛性截瘫 64

139

Spastic paralysis, infantile-onset

痉挛性瘫痪

140

Roussy-Levy syndrome

Roussy-Levy综合征

141

Roussy-Levy syndrome

Roussy-Levy综合征

142

Arts syndrome

Arts综合征

143

Silver spastic paraplegia syndrome

Silver痉挛性截瘫综合征

144

Alpha-thalassemia myelodysplasia syndrome, somatic

α地中海贫血骨髓增生异常综合征 体细胞

145

Boucher-Neuhauser syndrome

Boucher-Neuhauser综合征

146

Allan-Herndon-Dudley syndrome

Allan-Herndon-Dudley 综合征

147

Troyer syndrome

Troyer 综合征

148

Warburg micro syndrome

Warburg micro 综合征

149

Mast syndrome

Mast 综合征

150

Martsolf syndrome

Martsolf 综合征

151

MASA syndrome

MASA 综合征

152

Menkes syndrome

Menkes 综合征

153

Cowchock syndrome

Cowchock 综合征

154

CRASH syndrome

CRASH 综合征

155

Dejerine-Sottas disease

Dejerine-Sottas

156

Dejerine-Sottas disease

Dejerine-Sottas

157

Dejerine-Sottas disease

Dejerine-Sottas

158

Gerstmann-Straussler disease

Gerstmann-Straussler

159

Cerebral amyloid angiopathy, PRNP-related

脑淀粉样血管病

160

Pontocerebellar hypoplasia, type 9

桥脑小脑发育不全 9

161

Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant

小脑共济失调、耳聋和发作性嗜睡病 常染色体显性遗传

162

Spinocerebellar ataxia, autosomal recessive 1

脊髓小脑共济失调 常染色体隐性遗传 1

163

Spastic ataxia, Charlevoix-Saguenay type

痉挛性共济失调 Charlevoix-Saguenay

164

Spastic ataxia 2, autosomal recessive

痉挛性共济失调 2型 常隐

165

Lipodystrophy, familial partial, type 2

家族性部分性脂肪营养不良 2

166

Combined oxidative phosphorylation deficiency 6

联合性氧化磷酸化缺乏症 6

167

Combined oxidative phosphorylation deficiency 7

联合性氧化磷酸化缺乏症 7

168

Deafness, X-linked 5

耳聋 X连锁遗传 5

169

Insensitivity to pain, channelopathy-associated

无痛症

170

Insensitivity to pain, congenital, with anhidrosis

先天性无痛无汗症

171

Paroxysmal extreme pain disorder,

阵发性剧痛症

172

Metatropic dysplasia

正间向性发育不良

173

Erythermalgia, primary

原发性红斑性肢痛

174

HSAN2D, autosomal recessive

HSAN2D 常染色体隐性遗传

 




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