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HEREDITARY DISEASE DETECTION遗传病检测

性腺疾病

 

遗传性耳聋检测包共收录与遗传性耳聋相关164个基因,171种疾病。如:46XY性反转、卵巢发育不全、性腺发育不全、隐睾病等。


主要疾病如下:

1

46XX sex reversal 1

46XX性反转 1

2

46XY sex reversal 2, dosage-sensitive

46XY性反转 2

3

46XY sex reversal 3

46XY性反转 3

4

?46XY sex reversal 5

46XY性反转 5

5

46XY sex reversal 6

46XY性反转 6

6

46XY sex reversal 7

46XY性反转 7

7

46XY sex reversal 8

46XY性反转 8

8

{46XY sex reversal 8, modifier of}

46XY性反转 8

9

46XY sex reversal 9

46XY性反转 9

10

Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete

先天性肾上腺皮质功能不全 伴部分或全部的46XY性反转

11

Adrenoleukodystrophy

脑白质肾上腺素萎缩症

12

Glucocorticoid deficiency, due to ACTH unresponsiveness

糖皮质激素缺乏

13

Glucocorticoid deficiency 2

糖皮质激素缺乏 2

14

Glucocorticoid deficiency 4

糖皮质激素缺乏 4

15

Persistent Mullerian duct syndrome, type I

Persistent Mullerian duct 综合症(PMDSI

16

Persistent Mullerian duct syndrome, type II

Persistent Mullerian duct 综合症(PMDSII

17

{Prostate cancer, susceptibility to}

{前列腺癌 易感性}

18

Androgen insensitivity

雄激素不敏感症

19

Androgen insensitivity, partial, with or without breast cancer

部分性雄激素不敏感综合征伴或不伴乳腺癌

20

Hypospadias 1, X-linked 

尿道下裂 1 X连锁

21

Hypospadias 2, X-linked

尿道下裂 2 X连锁

22

Pseudovaginal perineoscrotal hypospadias

假阴道会阴阴囊尿道下裂

23

Leydig cell hypoplasia with hypergonadotropic hypogonadism

Leydig细胞发育不全伴高促性腺激素性性腺功能低下症

24

Mullerian aplasia and hyperandrogenism

苗勒氏管发育不全和雄激素过多症

25

Spermatogenic failure 8

精子产生障碍 8

26

Luteinizing hormone resistance, female

女性促黄体激素伴随抗激素性

27

{Breast cancer}

{乳腺癌}

28

{HFE hemochromatosis, modifier of}

{HFE血色病 修饰型}

29

17,20-lyase deficiency, isolated

单纯性1720-裂解酶缺乏

30

Estrogen resistance

抗雌性激素

31

Premature ovarian failure 1

卵巢早衰 1

32

Premature ovarian failure 3

卵巢早衰 3

33

Premature ovarian failure 4

卵巢早衰 4

34

Premature ovarian failure 5

卵巢早衰 5

35

Premature ovarian failure 6

卵巢早衰 6

36

Premature ovarian failure 7

卵巢早衰 7

37

Ovarian dysgenesis 1

卵巢发育不全1

38

Ovarian dysgenesis 2

卵巢发育不全2

39

Ovarian dysgenesis 3

卵巢发育不全3

40

Congenital bilateral absence of vas deferens

先天性双侧输精管缺如

41

Lipoid adrenal hyperplasia

类脂性肾上腺增生

42

Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency

11β-羟化酶缺乏症引起的先天性肾上腺增生

43

Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency

21-羟化酶缺乏导致的非典型雄激素过多症

44

Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency

21-羟化酶缺乏症引起的先天性肾上腺增生

45

17-alpha-hydroxylase/17,20-lyase deficiency

17α 羟化酶/17,20碳链裂解酶缺乏症

46

17 beta-hydroxysteroid dehydrogenase 3 deficiency

17β-羟基类固醇脱氢酶3缺乏

47

3-beta-hydroxysteroid dehydrogenase, type II, deficiency

3β-羟化类固醇脱氢酶缺乏 2

48

Aromatase deficiency

芳香化酶缺乏症

49

Precocious puberty, male

男性性早熟 

50

?Precocious puberty, central, 1

?中枢性性早熟 1

51

Precocious puberty, central, 2

中枢性性早熟 2

52

Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)

低促性腺激素性性腺功能减退症 1(Kallmann综合症)

53

hypogonadotropic hypogonadism 2 with or without anosmia

低促性腺激素性性腺功能减退症 2

54

Hypogonadotropic hypogonadism 3 with or without anosmia

低促性腺激素性性腺功能减退症 3型 伴或不伴嗅觉缺失

55

Hypogonadotropic hypogonadism 4 with or without anosmia

低促性腺激素性性腺功能减退症 4型 伴或不伴嗅觉缺失

56

Hypogonadotropic hypogonadism 6 with or without anosmia

低促性腺激素性性腺功能减退症 6型 伴或不伴嗅觉缺失

57

Hypogonadotropic hypogonadism 7 without anosmia

低促性腺激素性性腺功能减退症 7型 伴嗅觉丧失

58

Hypogonadotropic hypogonadism 8 with or without anosmia

低促性腺激素性性腺功能减退症 8型 伴或不伴嗅觉缺失症

59

Hypogonadotropic hypogonadism 9 with or without anosmia

低促性腺激素性性腺功能减退症 9型 伴或不伴嗅觉缺失

60

Hypogonadotropic hypogonadism 10 with or without anosmia

低促性腺激素性性腺功能减退症 10型 伴或不伴嗅觉缺失

61

Hypogonadotropic hypogonadism 11 with or without anosmia

低促性腺激素性性腺功能减退症 11型 伴或不伴嗅觉缺失

62

?Hypogonadotropic hypogonadism 12 with or without anosmia

低促性腺激素性性腺功能减退症 12型 伴或不伴嗅觉缺失

63

?Hypogonadotropic hypogonadism 13 with or without anosmia

低促性腺激素性性腺功能减退症 13型 伴或不伴嗅觉缺失

64

Hypogonadotropic hypogonadism 14 with or without anosmia

低促性腺激素性性腺功能减退症 14型 伴或不伴嗅觉缺失

65

{Hypogonadotropic hypogonadism 15 with or without anosmia}

低促性腺激素性性腺功能减退症 15型 伴或不伴嗅觉缺失 

66

{Hypogonadotropic hypogonadism 16 with or without anosmia}

低促性腺激素性性腺功能减退症 16型 伴或不伴嗅觉缺失

67

Hypogonadotropic hypogonadism 17 with or without anosmia

低促性腺激素性性腺功能减退症 17型 伴或不伴嗅觉缺失

68

Hypogonadotropic hypogonadism 18 with or without anosmia

低促性腺激素性性腺功能减退症 18型 伴或不伴嗅觉缺失

69

Hypogonadotropic hypogonadism 19 with or without anosmia

低促性腺激素性性腺功能减退症 19型 伴或不伴嗅觉缺失

70

Hypogonadotropic hypogonadism 20 with or without anosmia

低促性腺激素性性腺功能减退症 20型 伴或不伴嗅觉缺失

71

Hypogonadotropic hypogonadism 21 with anosmia

低促性腺激素性性腺功能减退症 21型 伴嗅觉丧失

72

Hypogonadotropic hypogonadism 22, with or without anosmia

低促性腺激素性性腺功能减退症 22型 伴或不伴嗅觉缺失

73

Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism

先天性肾上腺发育不全伴低促性腺激素性性腺功能减退症

74

Fragile X syndrome

脆性X综合症

75

Ovarian hyperstimulation syndrome

卵巢过度刺激综合征

76

Greig cephalopolysyndactyly syndrome

Greig cephalopolysyndactyly 综合症

77

Pallister-Hall syndrome

Pallister-Hall 综合症

78

Cryptorchidism 

隐睾病

79

?Testicular anomalies with or without congenital heart disease

?睾丸异常 伴有或不伴有先天性心脏病

80

Growth hormone deficiency with pituitary anomalies

生长激素缺乏伴垂体畸形

81

Pituitary hormone deficiency, combined, 2

联合垂体激素缺乏症 2

82

Pituitary hormone deficiency, combined, 3

联合垂体激素缺乏症 3

83

Pituitary hormone deficiency, combined, 4

联合垂体激素缺乏症 4

84

Pituitary hormone deficiency, combined, 5

联合垂体激素缺乏症 5

85

Pituitary hormone deficiency, combined, 6

联合垂体激素缺乏症 6

86

Brachydactyly, type A2

短指症 A2

87

Brachydactyly, type D

短指症 D

88

Brachydactyly, type E

短指症 E

89

Brachydactyly-syndactyly syndrome

短指并指综合征

90

Cystic fibrosis

囊性纤维化

91

CHARGE syndrome

CHARGE 综合症

92

Obesity, hyperphagia, and developmental delay

肥胖-饮食过多-发育迟缓

93

Obesity, morbid, due to leptin deficiency

瘦素缺乏性肥胖

94

Obesity, morbid, due to leptin receptor deficiency

瘦素受体缺乏性肥胖

95

Obesity with impaired prohormone processing

肥胖 伴进行性激素原受损

96

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

肥胖-肾上腺皮质功能不全-红发  POMC缺乏导致

97

{Obesity, susceptibility to, BMIQ12}

肥胖 BMIQ12型 易感性 

98

{Obesity, early-onset, susceptibility to}

早发性肥胖 易感性

99

Glomerulosclerosis, focal segmental, 7

局灶节段性肾小球硬化症 7

100

Renal-coloboma syndrome

肾功能缺损综合症

101

Townes-Brocks syndrome

Townes-Brocks综合症

102

Townes-Brocks branchiootorenal-like syndrome

Townes-Brocks样综合症

103

Panhypopituitarism, X-linked

全垂体功能减退

104

Campomelic dysplasia with autosomal sex reversal

躯干发育异常伴性反转

105

Adrenocorticotropic hormone deficiency

促肾上腺皮质激素缺乏

106

Pseudohypoaldosteronism, type IIC

假性醛固酮功能低下

107

Pseudohypoaldosteronism, type IIB

假性醛固酮功能低下

108

Hypoaldosteronism, congenital, due to CMO I deficiency

先天性醛固酮减少症  CMO I缺乏导致

109

Hypoaldosteronism, congenital, due to CMO II deficiency

先天性醛固酮减少症  CMO II缺乏导致

110

Hyperaldosteronism, familial, type III

家族性醛固酮增多症 III

111

Robinow syndrome, autosomal dominant

Robinow综合症

112

Ovarian response to FSH stimulation

FSH刺激卵巢反应

113

Hydranencephaly with abnormal genitalia

积水性无脑畸形 伴外生殖器异常

114

Opitz GBBB syndrome, type I

Opitz GBBB 综合症 1

115

Alpha-thalassemia/mental retardation syndrome

α-地中海贫血/智力障碍综合症

116

Cortisone reductase deficiency 1

可的松还原酶缺乏症 1

117

Cortisone reductase deficiency 2

可的松还原酶缺乏症 2

118

Hemochromatosis

血色素沉着病

119

Mental retardation, X-linked 21/34

智力障碍 X连锁 21/34 

120

Glucocorticoid resistance

糖皮质激素耐受

121

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 伴或不伴少牙或(和)性腺功能减退

122

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 伴或不伴少牙或(和)性腺功能减退

123

Cerebellar ataxia and hypogonadotropic hypogonadism

小脑共济失调和低促性腺素性功能减退症

124

Microphthalmia, syndromic 3

小眼畸形综合征 3

125

Microphthalmia, syndromic 6

小眼畸形综合征 6

126

Epileptic encephalopathy, early infantile, 2

早期婴儿癫痫性脑病 2

127

Mental retardation, autosomal dominant 21

智力障碍 21型 常染色体显性

128

Methemoglobinemia, type IV

高铁血红蛋白血症 IV

129

{Congenital anomalies of kidney and urinary tract, susceptibility to}

先天性肾脏和泌尿系统异常 易感性

130

Bartter syndrome, type 1

Bartter综合征 1

131

Bartter syndrome, type 2

Bartter综合征 2

132

Bartter syndrome, type 3

Bartter综合征 3

133

Bartter syndrome, type 4a

Bartter综合征 4a

134

Bartter syndrome, type 4b, digenic

Bartter综合征 4b

135

Bartter syndrome, type 4b, digenic

Bartter综合征 4b

136

blepharophimosis/ptosis/epicanthus inversus syndrome(BPES)

先天性睑裂狭小综合征

137

Achalasia-addisonianism-alacrimia syndrome

失弛缓症-Addison病无泪综合征

138

Hartsfield syndrome

Hartsfield综合征

139

Hand-foot-uterus syndrome

手足生殖器综合征

140

Bardet-Biedl syndrome 1

Bardet-Biedl综合征 1

141

{Bardet-Biedl syndrome 1, modifier of}

{Bardet-Biedl综合征 1型,修饰型}

142

Bardet-Biedl syndrome 2

Bardet-Biedl综合征 2

143

Bardet-Biedl syndrome 3

Bardet-Biedl综合征 3

144

Bardet-Biedl syndrome 4

Bardet-Biedl综合征 4

145

Bardet-Biedl syndrome 5

Bardet-Biedl综合征 5

146

Bardet-Biedl syndrome 6

Bardet-Biedl综合征 6

147

Bardet-Biedl syndrome 7

Bardet-Biedl综合征 7

148

Bardet-Biedl syndrome 8

Bardet-Biedl综合征 8

149

Bardet-Biedl syndrome 9

Bardet-Biedl综合征 9

150

Bardet-Biedl syndrome 10

Bardet-Biedl综合征 10

151

?Bardet-Biedl syndrome 11

Bardet-Biedl综合征 11

152

Bardet-Biedl syndrome 12

Bardet-Biedl综合征 12

153

McKusick-Kaufman syndrome

McKusick-Kaufman综合征

154

Proud syndrome

Proud综合征

155

?Polyendocrine-polyneuropathy syndrome

?Polyendocrine-polyneuropathy综合征

156

Beare-Stevenson cutis gyrata syndrome

Beare-Stevenson cutis gyrata综合征

157

Apparent mineralocorticoid excess

表象性盐皮质激素过多综合征

158

Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis

Antley-Bixler综合征 伴生殖器官异常及类固醇失调

159

Apert syndrome

Apert综合征

160

?Laurence-Moon syndrome

?Laurence-Moon综合征

161

Boucher-Neuhauser syndrome

Boucher-Neuhauser综合征

162

Peutz-Jeghers syndrome

Peutz-Jeghers综合征

163

Sudden infant death with dysgenesis of the testes syndrome

婴儿猝死伴睾丸发育不全综合征

164

Denys-Drash syndrome

Denys-Drash综合征

165

Frasier syndrome

Frasier综合征

166

Meacham syndrome

Meacham综合征

167

Oliver-McFarlane syndrome

Oliver-McFarlane综合征

168

Polycystic kidney disease, adult type I

多囊肾病 成年人1

169

Pigmented nodular adrenocortical disease, primary, 3

原发性色素结节性肾上腺皮质疾病 3

170

Palmoplantar hyperkeratosis and true hermaphroditism

掌跖角化病和真两性畸形

171

PCWH syndrome

PCWH综合症

172

Anemia, hypochromic microcytic

小细胞低色素性贫血

173

Corneal dystrophy, Fuchs endothelial, 6

角膜营养不良 Fuchs内皮 6

174

[Blood group, John-Milton-Hagen system]

[系统血型 John Milton Hagen]

 

 

 

 

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