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HEREDITARY DISEASE DETECTION遗传病检测

糖脂代谢检测包

 

糖脂代谢检测包共收录与糖脂代谢相关171个基因,200种疾病。主要包括:青少年发病的成年型糖尿病、胰岛素依赖型糖尿病、永久性性新生儿糖尿病等。


主要疾病如下:

1

Maturity-onset diabetes of the young, type 1

青少年发病的成年型糖尿病(MODY 1

2

Maturity-onset diabetes of the young, type 2

青少年发病的成年型糖尿病(MODY 2

3

Maturity-onset diabetes of the young, type 3

青少年发病的成年型糖尿病(MODY 3

4

Maturity-onset diabetes of the young, type 4

青少年发病的成年型糖尿病(MODY 4

5

Maturity-onset diabetes of the young, type 5

青少年发病的成年型糖尿病(MODY 5

6

Maturity-onset diabetes of the young, type 6

青少年发病的成年型糖尿病(MODY 6

7

Maturity-onset diabetes of the young, type 7

青少年发病的成年型糖尿病(MODY 7

8

Maturity-onset diabetes of the young, type 8

青少年发病的成年型糖尿病(MODY 8

9

Maturity-onset diabetes of the young, type 10

青少年发病的成年型糖尿病(MODY 10

10

Maturity-onset diabetes of the young, type 11

青少年发病的成年型糖尿病(MODY 11

11

Maturity-onset diabetes of the young, type 13

青少年发病的成年型糖尿病(MODY 13

12

Diabetes mellitus, neonatal, with congenital hypothyroidism

新生儿糖尿病伴甲状腺功能减退

13

Diabetes mellitus, permanent neonatal

永久性性新生儿糖尿病(PNDM)

14

Diabetes mellitus, permanent neonatal

永久性性新生儿糖尿病(PNDM)

15

Diabetes mellitus, permanent neonatal

永久性性新生儿糖尿病(PNDM)

16

Diabetes mellitus, permanent neonatal

永久性性新生儿糖尿病(PNDM)

17

Diabetes mellitus, permanent neonatal

永久性性新生儿糖尿病(PNDM)

18

Diabetes mellitus, transient neonatal, 1

短暂性新生儿糖尿病(TNDM) 1

19

Diabetes mellitus, transient neonatal 2

短暂性新生儿糖尿病(TNDM) 2

20

Diabetes mellitus, transient neonatal, 3

短暂性新生儿糖尿病(TNDM) 3

21

{Diabetes mellitus, transient neonatal}

短暂性新生儿糖尿病(TNDM) 

22

{Diabetes mellitus, noninsulin-dependent}

非胰岛素依赖型糖尿病

23

{Diabetes mellitus, noninsulin-dependent}

非胰岛素依赖型糖尿病

24

Diabetes mellitus, noninsulin-dependent

非胰岛素依赖型糖尿病

25

{Diabetes mellitus, noninsulin-dependent}

非胰岛素依赖型糖尿病

26

{Diabetes mellitus, noninsulin-dependent}

非胰岛素依赖型糖尿病

27

{Diabetes mellitus, noninsulin-dependent, association with}

非胰岛素依赖型糖尿病

28

{Diabetes mellitus, noninsulin-dependent, 2}

{非胰岛素依赖型糖尿病 2}

29

{Diabetes mellitus, noninsulin-dependent, 5}

非胰岛素依赖型糖尿病 5

30

Diabetes mellitus, noninsulin-dependent, late onset

非胰岛素依赖型迟发型糖尿病

31

Diabetes mellitus, insulin-dependent, 2

胰岛素依赖型糖尿病 2

32

Diabetes mellitus, insulin-dependent, 20

胰岛素依赖型糖尿病 20

33

{Diabetes mellitus, insulin-dependent}

{胰岛素依赖型糖尿病}

34

{Diabetes mellitus, type I, susceptibility to}

{I型糖尿病 易感性}

35

{Diabetes mellitus, type II, susceptibility to}

{II型糖尿病 易感性}

36

Diabetes mellitus, type II

II型糖尿病

37

{Diabetes, type 2}

{2型糖尿病 }

38

{Diabetes mellitus, type 2, susceptibility to}

{2型糖尿病 易感性}

39

Hyperproinsulinemia

高前胰岛素血症

40

Hypoinsulinemic hypoglycemia with hemihypertrophy

低胰岛素性低血糖症伴偏身肥大症

41

Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young

范可尼肾小管综合征 4型 伴青少年发病的成人型糖尿病

42

Hypoglycemia of infancy, leucine-sensitive

亮氨酸过敏的婴儿低血糖症

43

Diabetes mellitus, insulin-resistant, with acanthosis nigricans

胰岛素抵抗型糖尿病伴黑棘皮症

44

Insulin resistance, severe, digenic

重度胰岛素抵抗

45

{Microvascular complications of diabetes 7}

{糖尿病微血管并发症 7}

46

Hyperinsulinemic hypoglycemia, familial, 1

家族性高胰岛素低血糖症 1

47

Hyperinsulinemic hypoglycemia, familial, 2

家族性高胰岛素低血糖症 2

48

Hyperinsulinemic hypoglycemia, familial, 3

家族性高胰岛素低血糖症 3

49

Hyperinsulinemic hypoglycemia, familial, 4

家族性高胰岛素低血糖症 4

50

Hyperinsulinemic hypoglycemia, familial, 5

家族性高胰岛素低血糖症 5

51

Hyperinsulinemic hypoglycemia, familial, 7

家族性高胰岛素低血糖症 7

52

Insulin resistance, severe

严重胰岛素抵抗综合征

53

Hyperinsulinism-hyperammonemia syndrome

高胰岛素血症高氨血症综合征

54

Hemolytic anemia due to hexokinase deficiency

己糖激酶缺乏症引起的溶血性贫血

55

Lipodystrophy, congenital generalized, type 1

先天性全身脂肪代谢障碍 1

56

Lipodystrophy, congenital generalized, type 2

先天性全身脂肪代谢障碍 2

57

?Lipodystrophy, congenital generalized, type 3

先天性全身脂肪代谢障碍 3

58

Lipodystrophy, congenital generalized, type 4

先天性全身脂肪代谢障碍 4

59

Lipodystrophy, familial partial, type 2

家族性部分脂肪代谢障碍 2

60

Lipodystrophy, familial partial, type 3

家族性部分脂肪代谢障碍 3

61

Lipodystrophy, familial partial, type 4

家族性部分脂肪代谢障碍 4

62

?Lipodystrophy, familial partial, type 5

家族性部分脂肪代谢障碍 5

63

?Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome

?部分性脂肪营养不良、先天性白内障和神经退行性疾病综合征

64

Obesity, autosomal dominant

常染色体显性肥胖

65

Obesity, mild, early-onset

早发性轻度肥胖

66

Obesity, morbid, due to leptin deficiency

由于瘦素缺乏导致的病态肥胖  单基因型肥胖  严重胰岛素抵抗

67

Obesity, morbid, due to leptin receptor deficiency

由于瘦素受体缺乏导致的病态肥胖  单基因型肥胖 严重胰岛素抵抗

68

?Obesity, hyperphagia, and developmental delay

肥胖 暴食及发育迟缓  单基因型肥胖 严重胰岛素抵抗

69

Obesity with impaired prohormone processing

肥胖伴受损的激素原处理

70

Obesity, adrenal insufficiency, and red hair due to POMC deficiency

肥胖 肾上腺皮质功能不全 红发 单基因型肥胖 严重胰岛素抵抗

71

{Obesity, susceptibility to, BMIQ4}

{肥胖症 易感性 BMIQ4}

72

{Obesity, susceptibility to, BMIQ12}

{肥胖 易感性 BMIQ12}

73

{Obesity, early-onset, susceptibility to}

{早发型肥胖 易感性}

74

Obesity, severe

严重型肥胖

75

Obesity, severe

严重型肥胖

76

{Obesity, severe, susceptibility to, BMIQ9}

肥胖 易感型

77

{Obesity, susceptibility to, BMIQ14}

肥胖 易感型

78

Congenital disorder of glycosylation, type Ia

先天性糖基化障碍 Ia

79

Congenital disorder of glycosylation, type Ib

先天性糖基化障碍 Ib

80

Congenital disorder of glycosylation, type Ic

先天性糖基化障碍 Ic

81

Congenital disorder of glycosylation, type Id

先天性糖基化障碍 Id

82

Congenital disorder of glycosylation, type Ie

先天性糖基化障碍 Ie

83

Congenital disorder of glycosylation, type If

先天性糖基化障碍 If

84

Congenital disorder of glycosylation, type Ig

先天性糖基化障碍 Ig

85

Congenital disorder of glycosylation, type Ih

先天性糖基化障碍 Ih

86

?Congenital disorder of glycosylation, type Ii

先天性糖基化障碍 Ii

87

Congenital disorder of glycosylation, type Ij

先天性糖基化障碍 Ij

88

Congenital disorder of glycosylation, type Ik

先天性糖基化障碍 Ik

89

Congenital disorder of glycosylation, type Il

先天性糖基化障碍 Il

90

Congenital disorder of glycosylation, type Im

先天性糖基化障碍 Im

91

Congenital disorder of glycosylation, type In

先天性糖基化障碍 In

92

Congenital disorder of glycosylation, type Io

先天性糖基化障碍 Io

93

Congenital disorder of glycosylation, type Ip

先天性糖基化障碍 Ip

94

Congenital disorder of glycosylation, type Iq

先天性糖基化障碍 Iq

95

?Congenital disorder of glycosylation, type Ir

先天性糖基化障碍 Ir

96

Congenital disorder of glycosylation, type Is

先天性糖基化障碍 Is

97

Congenital disorder of glycosylation, type It

先天性糖基化障碍 It

98

Congenital disorder of glycosylation, type Iu

先天性糖基化障碍 Iu

99

Congenital disorder of glycosylation, type Iw

先天性糖基化障碍 Iw

100

?Congenital disorder of glycosylation, type Ix

先天性糖基化障碍 Ix

101

?Congenital disorder of glycosylation, type Iy

先天性糖基化障碍 Iy

102

Congenital disorder of glycosylation, type IIa

先天性糖基化障碍 IIa

103

Congenital disorder of glycosylation, type IIb

先天性糖基化障碍 IIb

104

Congenital disorder of glycosylation, type IIc

先天性糖基化障碍 IIc

105

Congenital disorder of deglycosylation

先天性去糖基化障碍

106

Diarrhea 1, Congenital

先天性腹泻 1

107

Diarrhea 3, Congenital

先天性腹泻 3

108

Diarrhea 4, Congenital

先天性腹泻 4

109

Diarrhea 5, Congenital

先天性腹泻 5

110

Diarrhea 6

腹泻 6

111

?Diarrhea 7

?腹泻7

112

Pancreatic agenesis 1

胰腺发育不全 1

113

Pancreatic agenesis 2

胰腺发育不全 2

114

Pancreatic agenesis and congenital heart defects

胰腺发育缺陷和先天性心脏缺陷

115

{Fibrocalculous pancreatic diabetes, susceptibility to}

{纤维钙化性胰腺糖尿病 易感性}

116

Tropical calcific pancreatitis

热带性钙化性胰腺炎

117

Pancreatitis, hereditary

遗传性胰腺炎

118

Pancreatitis, hereditary

遗传性胰腺炎

119

{Pancreatitis, chronic, susceptibility to}

慢性胰腺炎 易感

120

{Pancreatitis, chronic, protection against}

慢性胰腺炎 易感

121

{Pancreatitis, idiopathic}

特发性胰腺炎 易感

122

Mandibuloacral dysplasia with type B lipodystrophy

下颌骨发育不良伴B 型脂肪代谢障碍

123

Mandibuloacral dysplasia

下颌骨发育不良

124

Hypertriglyceridemia, transient infantile

短暂性新生儿高甘油三酯血症

125

Hyperlipoproteinemia, type Ib

高脂蛋白血症 Ib

126

Hyperlipoproteinemia, type III

高脂蛋白血症 III

127

Encephalopathy, progressive, with or without lipodystrophy

进行性脑病伴脂肪代谢障碍

128

Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome

下颌骨发育不全 耳聋 早老性特征 脂肪营养不良综合征

129

Central hypoventilation syndrome

中枢性低通气综合征

130

Central hypoventilation syndrome, congenital

先天性中枢性低通气综合征

131

Central hypoventilation syndrome, congenital

先天性中枢性低通气综合征

132

Central hypoventilation syndrome, congenital

先天性中枢性低通气综合征

133

Central hypoventilation syndrome, congenital

先天性中枢性低通气综合征

134

Central hypoventilation syndrome, congenital, with or without Hirschsprung disease

先天性中枢性低通气综合征 伴或不伴Hirschsprung

135

Porphyria, acute intermittent

急性间歇性卟啉病

136

Porphyria cutanea tarda

迟发型皮肤卟啉病

137

Hemochromatosis, type 1

血色沉着病 1

138

Hemochromatosis, type 2A

血色沉着病 2A

139

Hemochromatosis, type 2B

血色沉着病 2B

140

Hemochromatosis, type 3

血色沉着病 3

141

Hemochromatosis, type 4

血色沉着病 4

142

Bardet-Biedl Syndrome 1

Bardet-Biedl综合征 1

143

Bardet-Biedl Syndrome 2

Bardet-Biedl综合征 2

144

Bardet-Biedl Syndrome 3

Bardet-Biedl综合征 3

145

Bardet-Biedl Syndrome 4

Bardet-Biedl综合征 4

146

Bardet-Biedl Syndrome 5

Bardet-Biedl综合征 5

147

Bardet-Biedl Syndrome 6

Bardet-Biedl综合征 6

148

Bardet-Biedl Syndrome 7

Bardet-Biedl综合征 7

149

Bardet-Biedl Syndrome 8

Bardet-Biedl综合征 8

150

Bardet-Biedl Syndrome 9

Bardet-Biedl综合征 9

151

Bardet-Biedl Syndrome 10

Bardet-Biedl综合征 10

152

?Bardet-Biedl syndrome 11

Bardet-Biedl综合征 11

153

Bardet-Biedl Syndrome 12

Bardet-Biedl综合征 12

154

Bardet-Biedl Syndrome 13

Bardet-Biedl综合征 13

155

?Bardet-Biedl syndrome 14

Bardet-Biedl综合征 14

156

?Bardet-Biedl syndrome 15

Bardet-Biedl综合征 15

157

Bardet-Biedl Syndrome 16

Bardet-Biedl综合征 16

158

Bardet-Biedl Syndrome 17

Bardet-Biedl综合征 17

159

?Bardet-Biedl syndrome 18

Bardet-Biedl综合征 18

160

?Bardet-Biedl syndrome 19

Bardet-Biedl综合征 19

161

Kabuki syndrome 1

Kabuki 综合症1

162

Kabuki syndrome 2

Kabuki 综合症2

163

Malouf syndrome

Malouf综合征

164

Rabson-Mendenhall syndrome

Rabson-Mendenhall 综合症

165

Woodhouse-Sakati syndrome

Woodhouse-Sakati 综合症

166

Wolcott-Rallison syndrome

Wolcott-Rallison 综合症

167

Microcephaly, epilepsy, and diabetes syndrome

小头畸形 癫痫 糖尿病综合症

168

Leigh syndrome, French-Canadian type

Leigh 综合症 French-Canadian

169

Mitchell-Riley syndrome

Mitchell-Riley 综合症

170

SHORT syndrome

SHORT 综合症

171

Mitchell-Riley syndrome

Mitchell-Riley 综合症

172

Fanconi-Bickel syndrome

Fanconi-Bickel 综合症

173

ACTH-independent macronodular adrenal hyperplasia 2

ACTH非依赖性双侧肾上腺大结节样增生 2

174

Wolfram-like syndrome, autosomal dominant

Wolfram综合征 常染色体显性遗传

175

Wolfram syndrome 1

Wolfram 综合症 1

176

Wolfram syndrome 2

Wolfram 综合症 2

177

Johanson-Blizzard syndrome

Johanson-Blizzard 综合症

178

Werner syndrome

Werner 综合征

179

Alstrom syndrome

Alstrom 综合症

180

Autoimmune polyendocrinopathy syndrome

Autoimmune polyendocrinopathy 综合症

181

Down syndrome

Down 综合症

182

Mulibrey nanism

mulibrey矮小症

183

Hyper-IgD syndrome

Hyper-IgD 综合征

184

CINCA syndrome

CINCA 综合征

185

Majeed syndrome

Majeed 综合征

186

Blau syndrome

Blau 综合征

187

Currarino syndrome

Currarino综合征

188

Cowden syndrome 6

Cowden综合征 6

189

Bloom syndrome

Bloom综合征

190

Mitochondrial DNA depletion syndrome 2 (myopathic type) 

线粒体DNA缺失综合征 2

191

Hemophagocytic lymphohistiocytosis, familial, 2

家族性噬血细胞综合征 2

192

Thiamine-responsive megaloblastic anemia syndrome

硫胺素反应性巨幼细胞性贫血综合征

193

Leprechaunism

矮妖精貌综合征

194

Hutchinson-Gilford progeria

早老综合征

195

Autoinflammation, lipodystrophy, and dermatosis syndrome

自身炎症 脂肪营养不良和皮肤病综合征

196

Autoimmune polyendocrinopathy syndrome , type I

自身免疫性多内分泌腺病综合征 I

197

Autoimmune lymphoproliferative syndrome, type IA

自身免疫性淋巴细胞增生综合征 IA

198

Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked

免疫功能失调 多内分泌病变和肠病 X连锁遗传

199

Familial Mediterranean fever, AD

家族性地中海热 常显

200

Familial Mediterranean fever, AR

家族性地中海热 常隐

201

Periodic fever, familial

家族性周期性发热

202

Mitochondrial complex III deficiency, nuclear type 6 

核型线粒体复合物III缺乏-6

203

Acatalasemia

无过氧化氢酶血症

204

Growth retardation, developmental delay, facial dysmorphism

生长迟缓 发育迟缓 面部畸形

205

Hepatic lipase deficiency

肝脂酶缺乏症

206

3-hydroxyacyl-CoA dehydrogenase deficiency

3-羟酰辅酶A脱氢酶缺乏

207

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6

进行性眼外肌麻痹 6型 伴mtDNA缺失 常显

208

Microvillus inclusion disease

微绒毛包涵体病

209

Pyogenic sterile arthritis, pyoderma gangrenosum, and acne

无菌性关节炎化脓 坏疽性脓皮病 痤疮

210

Hemosiderosis, systemic, due to aceruloplasminemia

无铜蓝蛋白血症导致的全身含铁血黄素沉着症

211

Myotonic dystrophy 1

强直性肌营养不良 1

212

Aniridia

无虹膜

213

Microcephalic osteodysplastic primordial dwarfism, type II

小头畸形骨发育不良原始侏儒症 II

 




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