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HEREDITARY DISEASE DETECTION遗传病检测

脑白质病

 

脑白质病检测包共收录与脑白质病相关115个基因,99种疾病。如:髓鞘发育不良性脑白质营养不良、巨脑性白质脑病伴皮层下囊肿、异染性脑白质营养不良、伴脊髓与脑干受累以及脑白质乳酸升高的脑白质病等。


主要疾病如下:

1

leukodystrophy hypomyelinating type 2 (HLD2)或称Pelizaeus-Merzbacher-like disease autosomal recessive type 1

髓鞘发育不良性脑白质营养不良2
(佩梅样病1型)

2

leukodystrophy hypomyelinating type3 (HLD3)

髓鞘发育不良性脑白质营养不良3

3

leukodystrophy hypomyelinating type4 (HLD4)

髓鞘发育不良性脑白质营养不良4

4

leukodystrophy hypomyelinating type5 (HLD5)

髓鞘发育不良性脑白质营养不良5

5

Leukodystrophy, hypomyelinating, 6

髓鞘发育不良性脑白质营养不良6

6

Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism

髓鞘发育不良性脑白质营养不良7型 伴或不伴少牙畸形和/或低促性腺激素性性腺功能减退

7

Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism

髓鞘发育不良性脑白质营养不良8型 伴或不伴少牙畸形和/或低促性腺激素性性腺功能减退

8

leukodystrophy hypomyelinating type9 (HLD9)

髓鞘发育不良性脑白质营养不良9

9

Leukoencephalopathy with ataxia

脑白质病变伴共济失调

10

Megalencephalic leukoencephalophathy with subcortical cysts (MLC)

巨脑性白质脑病伴皮层下囊肿

11

Megalencephalic leukoencephalopathy with subcortical cysts 2A

巨脑性白质脑病伴皮层下囊肿2A

12

Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation

巨脑性白质脑病伴皮层下囊肿2B型 缓慢型 伴或不伴精神发育迟缓

13

Leukoencephalopathy, cystic, without megalencephaly

囊性脑白质病变不伴巨脑症

14

Vanishing white matter disease (VWM)

白质消融性白质脑病

15

Vanishing white matter disease (VWM)

白质消融性白质脑病

16

Vanishing white matter disease (VWM)

白质消融性白质脑病

17

Vanishing white matter disease (VWM)

白质消融性白质脑病

18

Vanishing white matter disease (VWM)

白质消融性白质脑病

19

Ovarioleukodystrophy

卵巢性脑白质营养不良

20

Ovarioleukodystrophy

卵巢性脑白质营养不良

21

Ovarioleukodystrophy

卵巢性脑白质营养不良

22

Metachromaticle leukodystorphy (MLD)

异染性脑白质营养不良

23

Metachromatic leukodystrophy due to SAP-b deficiency

异染性脑白质营养不良

24

X-linked adrenoleukodystrophy (X-ALD)

X-连锁肾上腺脑白质营养不良

25

X-linked adrenoleukodystrophy (X-ALD)adult

X-连锁肾上腺脑白质营养不良 成年型

26

Krabbe Disease

球型细胞脑白质营养不良

27

Leukoencephalopathy with Dystonia and Motor Neuropathy 

脑白质营养不良伴肌张力不全及运动神经病

28

Autosomal Dominant Leukodystrophy (ADLD)

脑白质营养不良 常染色体显性遗传

29

Hereditary diffuse leukoencephalopathy with axonal spheroids

遗传性弥漫性白质脑病伴轴索球样体

30

Leukoencephylopath with brain stem and spinal cord involvement and lactate elevation (LBSL)

伴脊髓与脑干受累以及脑白质乳酸升高的脑白质病

31

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy,  CADASIL

常染色体显性遗传性脑动脉病伴皮层下梗死和白质脑病

32

Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2

脑动脉病 常染色体显性遗传 伴皮层下梗死和脑白质病变,2

33

Autosomal-recessive spastic ataxia with leukoencephalopathy (arsal) 

常染色体隐性遗传性痉挛性共济失调和脑白质病

34

Leukoencephalopathy due to mitochondrial complex I deficiency

线粒体复合物I缺陷所致白质脑病

35

Leukoencephalopathy due to mitochondrial complex I deficiency

线粒体复合物I缺陷所致白质脑病

36

Leukoencephalopathy due to mitochondrial complex I deficiency

线粒体复合物I缺陷所致白质脑病

37

Leukoencephalopathy due to mitochondrial complex I deficiency

线粒体复合物I缺陷所致白质脑病

38

Leukoencephalopathy due to mitochondrial complex II deficiency

线粒体复合物II缺陷所致白质脑病

39

Leukoencephalopathy due to mitochondrial complex II deficiency

线粒体复合物II缺陷所致白质脑病

40

Leukoencephalopathy due to mitochondrial complex IV deficiency

线粒体复合物IV缺陷所致白质脑病

41

Aicardi-Goutières Syndrome

Aicardi-Goutières综合征

42

Aicardi-Goutières Syndrome

Aicardi-Goutières综合征

43

Aicardi-Goutières Syndrome

Aicardi-Goutières综合征

44

Aicardi-Goutières Syndrome

Aicardi-Goutières综合征

45

Aicardi-Goutières Syndrome

Aicardi-Goutières综合征

46

Aicardi-Goutières Syndrome

Aicardi-Goutières综合征

47

Aicardi-Goutières Syndrome

Aicardi-Goutières综合征

48

Cockayne Syndrome

Cockayne综合征

49

Cockayne Syndrome

Cockayne综合征

50

Cowden syndrome 2

Cowden综合征 2

51

CARASIL syndrome

CARASIL综合征

52

Revesz syndrome(RS)

Revesz综合征

53

Kufor-Rakeb syndrome

Kufor-Rakeb综合征

54

Woodhouse-Sakati syndrome

Woodhouse-Sakati 综合征

55

Lowe Syndrome

Lowe综合征

56

Sj?gren-Larsson syndrome

Sj?gren-Larsson综合症

57

Mitochondrial DNA depletion syndrome

线粒体DNA耗竭综合征

58

Waardenburg syndrome, type 2E, with or without neurologic involvement

Waardenburg综合征 2E型 伴或不伴神经系统受累

59

Allan-Herndon-Dudley syndrome

Allan-Herndon-Dudley综合征

60

Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)

线粒体隐性遗传共济失调综合征 包括SANDOSCAE

61

Multiple mitochondrial dysfunctions syndrome 1

多发性线粒体功能紊乱综合征1

62

hereditary spastic paraplegia2 (SPG2)

遗传性痉挛性截瘫2

63

Spastic paraplegia 35, autosomal recessive

痉挛型截瘫35型 常染色体隐性遗传

64

Spastic paraplegia 44, autosomal recessive

痉挛型截瘫44型 常染色体隐性遗传

65

Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps

遗传性淋巴病 伴肾病 动脉瘤和肌肉痉挛

66

Fucosidosis

岩藻糖苷贮积症

67

GM1-Gangliosidosis

GM1-神经节苷脂沉积症

68

GM2-Gangliosidosis

GM2-神经节苷脂沉积症

69

Pantothenate kinase-associated neurodegeneration

神经退行性疾病伴脑铁沉积 1

70

Neurodegeneration with brain iron accumulation 2B

神经退行性疾病伴脑铁沉积 2B

71

Infantile neuroaxonal dystrophy 1

婴儿神经轴索营养不良 1

72

Neuronal ceroid lipofuscinoses

神经元蜡样脂质褐素沉积症

73

Neuronal ceroid lipofuscinoses

神经元蜡样脂质褐素沉积症

74

Neuronal ceroid lipofuscinoses

神经元蜡样脂质褐素沉积症

75

Neuronal ceroid lipofuscinoses

神经元蜡样脂质褐素沉积症

76

Neuronal ceroid lipofuscinoses

神经元蜡样脂质褐素沉积症

77

Neuronal ceroid lipofuscinoses

神经元蜡样脂质褐素沉积症

78

Neuronal ceroid lipofuscinoses

神经元蜡样脂质褐素沉积症

79

Ceroid lipofuscinosis, neuronal

神经元蜡样脂质褐素沉积症

80

Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant

神经元蜡样脂质褐素沉积症北方癫痫相关

81

Neuronal ceroid lipofuscinoses

神经元蜡样脂质褐素沉积症

82

Neuronal ceroid lipofuscinoses

神经元蜡样脂质褐素沉积症

83

Neuronal ceroid lipofuscinoses

神经元蜡样脂质褐素沉积症

84

Ceroid lipofuscinosis, neuronal

神经元蜡样脂质褐素沉积症

85

Neuronal ceroid lipofuscinoses

神经元蜡样脂质褐素沉积症

86

Trichothiodystrophy with hypersensitivity to sunlight

毛发低硫营养不良伴阳光过敏

87

Trichothiodystrophy with hypersensitivity to sunlight

毛发低硫营养不良伴阳光过敏

88

Trichothiodystrophy with hypersensitivity to sunlight

毛发低硫营养不良伴阳光过敏

89

Trichothiodystrophy with hypersensitivity to sunlight

毛发低硫营养不良不伴阳光过敏

90

Xeroderma pigmentosum, group B

着色性干皮病 B

91

Nonketotic hyperglycinemia

甘氨酸脑病

92

Nonketotic hyperglycinemia

甘氨酸脑病

93

Nonketotic hyperglycinemia

甘氨酸脑病

94

Brain Calcification with Leukoencephalopathy 

特发性基底节钙化

95

Brain Calcification with Leukoencephalopathy 

特发性基底节钙化

96

Brain Calcification with Leukoencephalopathy 

特发性基底节钙化

97

Propionic Acidemia

丙酸血症

98

Propionic Acidemia

丙酸血症

99

Malpe Syrup Urine Disease

枫糖尿症

100

Malpe Syrup Urine Disease

枫糖尿症

101

Malpe Syrup Urine Disease

枫糖尿症

102

Glutaricaciduria, type I

戊二酸尿症I

103

D-2-hydroxyglutaric aciduria

D-2-羟基戊二酸尿症

104

D-2-hydroxyglutaric aciduria 

D-2-羟基戊二酸尿症

105

L-2-Hydroxyglutaric Aciduria

L-2-羟基戊二酸尿症

106

Combined SAP deficiency

SAP结合缺乏症

107

Multiple sulfatase deficiency

多种硫酸酯酶缺乏症

108

Peroxisomal D-bifunctional protein deficiency

过氧化物酶体双功能蛋白缺乏症

109

Peroxisomal Acyl-CoA Oxidase Deficiency

过氧化物酶体酰基辅酶A氧化酶缺乏症

110

Pyruvate Carboxylase Deficiency

丙酮酸羧化酶缺乏症

111

HMG-CoA lyase deficiency

HMG-CoA裂解酶缺乏症

112

D-bifunctional protein deficiency 

D-bifunctional 蛋白缺乏症

113

Peroxisomal acyl-CoA- oxidase deficiency 

过氧化物酶体酰基辅酶A氧化酶缺乏

114

Leukoencephalopathy with dystonia and motor neuropathy

白质脑病伴肌张力障碍和运动神经病变
SCPX缺乏)

115

Leukoencephalopathy thalamus and brain stem involvement & lactate elevation (LTBL) 

联合性氧化磷酸化缺乏症 12

116

?Retinal arteries, tortuosity of

?视网膜动脉扭曲

117

Cerebroretinal Microangiopathy with Calcifications and Cysts (CRMCC)

脑视网膜微血管病伴钙化和囊肿

118

Brain small vessel disease with or without ocular anomalies

脑小血管病 伴或不伴眼睛异常

119

Porencephaly 1

脑穿通畸形1

120

Giant axonal neuropathy 

巨轴索神经病

121

Cerebrotendinous xanthomatosis (CTX) 

脑腱黄瘤病

122

Leukoencephalopathy (hypomyelination) with brain stem and spinal cord involvement (HBSL)

低髓鞘化伴脑干和脊髓受累和腿部痉挛

123

Charcot-Marie-Tooth disease X1CMTX1

腓骨肌萎缩症X1

124

Muscular dystrophy, congenital merosin-deficient

先天性肌营养不良

125

Oculodentodigital dysplasia

眼齿趾发育不良

126

Nasu-hakola disease

Nasu-hakola

127

Nasu-hakola disease

Nasu-hakola

128

Canavan disease

Canavan

129

Pelizaeus-Merzbacher disease (PMD)

佩梅病  

130

Krabbe disease, atypical

Krabbe

131

Alexander disease

亚历山大病

132

Menkes disease  

Menkes

133

Sandhoff disease, infantile, juvenile, and adult forms

Sandhoff病 婴儿型 青少年型和成人型

134

Sallas Disease

Salla

135

Parkinson disease 14, autosomal recessive

帕金森氏病 14型 常染色体隐性遗传

136

Fabry Disease 

法布里病

137

Fabrydisease, cardiac variant

心脏变性性法布里病

138

Wilson disease

肝豆状核变性

 

 

 

 

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