序號

單基因疾病

Single Gene Disorder

基因

Gene

發生率

帶因率

v1.0

v2.0

v3.0

1

甲型海洋性貧血

α-thalassemia

HBA1

HBA2

-

Asian 4/100-5/100

●

●

●

2

乙型海洋性貧血

β-thalassemia

HBB

-

Asian 1/100-2/100

●

●

●

3

威爾森氏症

Wilson Disease

ATP7B

1 /30,000

1/87

●

●

●

4

楓糖尿症

Maple Syrup Urine Disease

BCKDHA

BCKDHB

DBT

1/185,000

1/216

●

●

●

5

囊腫纖維症

Cystic Fibrosis

CFTR

White American

1/2,500-1/3,500

White American

1/26-1/30

●

●

●

6

裘馨氏肌肉萎縮症

Muscular Dystrophy, Duchenne Type

DMD

1/3,500-1/5,000

1/1,750-1/2,500

●

●

●

7

貝克氏肌肉萎縮症

Muscular Dystrophy, Becker Type

8

血友病A型

Hemophilia A

F8

1/4,000-1/5,000

1/2000-1/2500

●

●

●

9

血友病B型

Hemophilia B

F9

1/20,000

1/10,000

●

●

●

10

X染色體脆折症

Fragile X Syndrome

FMR1

Female 1/2,500-1/8,000

Male 1/4,000-1/5,000

Female 1/250

●

●

●

11

G6PD缺乏症 (蠶豆症)

Glucose-6-Phosphate Dehydrogenase Deficiency G6PD Deficiency

G6PD

Asian 3/100

Asian 1/50

●

●

●

12

肝醣儲積症第二型(龐貝氏症)

Glycogen Storage Disease II (Pompe Disease)

GAA

Asian 1/50,000

American1/40,000

Asian 1/123

American 1/100

●

●

●

13

半乳糖血症

Galactosemia

GALT

1/30,000-1/60,000

1/87-1/123

●

●

●

14

法布瑞氏症

Fabry Disease

GLA

1/40,000- 1/60,000

1/100-1/123

●

●

●

15

高雪氏症

Gaucher Disease

GBA

1/50,000-1/100,000

1/112-1/159

●

●

●

16

感覺神經性聽損

Sensorineural Hearing Loss

GJB2

SLC26A4

1/500

1/3,000

1/11

1/29-1/50

●

●

●

17

黏多醣症第一型 (賀勒氏症)

Mucopolysaccharidosis, Type I (Hurler Syndrome)

IDUA

Severe 1/100,000

Mild 1/500,000

Severe 1/159

Mild 1/354

●

●

●

18

苯酮尿症

Phenylketonuria

PAH

American

1/10,000-1/15,000

American 1/50-1/62

●

●

●

19

胎兒型染色體隱性多囊性腎臟病

Autosomal Recessive Polycystic Kidney Disease (ARPKD)

PKHD1

1/20,000-1/40,000

1/71-1/100

●

●

●

20

脊髓性肌肉萎縮症

Spinal Muscular Atrophy

SMN1

1/8000-1/10,000

1/50

●

●

●

16

感覺神經性聽損

Sensorineural Hearing Loss

OTOF

GJB3

1/180,000

1/1,600,000

1/214

1/636

●

●

21

家族性胰島素過多症

Familial Hyperinsulinism

ABCC8

-

1/166

●

●

22

新生兒糖尿病

Diabetes, Neonatal

23

黏多醣症第六型(馬洛托-拉米氏症)

Mucopolysaccharidosis, Type VI (Maroteaux-Lamy Syndrome)

ARSB

1/250,000-1/600,000

1/251-1/388

●

●

24

卡納萬病（海綿狀腦白質營養不良症）

Canavan Disease

ASPA

1/100,000

1/158

●

●

25

瓜胺酸血症第一型

Citrullinemia, Type I

ASS1

1/57,000

1/120

●

●

26

肢帶型肌失養症2A型

Limb-Girdle Muscular Dystrophy, Type 2A

CAPN3

-

1/160

●

●

27

尤塞氏症候群3A型

Usher Syndrome, Type IIIA

CLRN1

1/800,000

1/449

●

●

28

先天性腎上腺增生症

Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia 1

CYP21A2

1/15,000

1/62

●

●

29

二氫硫辛醯胺脫氫酶缺乏症

Dihydrolipoamide Dehydrogenase Deficiency

DLD

1/1,000,000

1/500

●

●

30

肢帶型肌失養症2B型

Limb-Girdle Muscular Dystrophy, Type 2B

DYSF

-

1/270

●

●

31

范可尼氏貧血症C型

Fanconi Anemia, Complementation Group C

FANCC

1/160,000

1/200

●

●

32

肢帶型肌失養症2I型

Limb-Girdle Muscular Dystrophy, Type 2I

FKRP

-

1/246

●

●

33

Walker-Warburg 綜合症
Walker-Warburg Syndrome

FKTN

-

1/500

●

●

34

肝醣儲積症第一型

Glycogen Storage Disease, Type lA

G6PC

1/100,000

1/158

●

●

35

戊二酸血症第一型

Glutaricaciduria, Type I

GCDH

1/30,000-1/40,000

1/87-1/100

●

●

36

戴薩克斯症(家族性黑矇癡呆症)

Tay-Sachs Disease

HEXA

-

1/300

●

●

37

GM2神經節苷脂儲積症

GM2 Gangliosidosis

38

β-氨基糖苷酶假性缺陷

Beta-Hexosaminidase Pseudodeficiency

39

血鐵沉積症(血色素沉著病)

Hemochromatosis, Type 1

HFE

-

1/10

●

●

40

黏多醣症第二型 (韓特氏症)

Mucopolysaccharidosis, Type II (Hunter Syndrome)

IDS

1/100,000-1/170,000

1/50,000-1/85,000

●

●

41

家族性自主神經失調症

Familial Dysautonomia

IKBKAP

1/1,000,000

1/500

●

●

42

性聯遺傳嚴重免疫缺陷

Severe Combined Immunodeficiency, IL2RG-Related (X-Linked)

IL2RG

1/50,000-1/100,000

1/25,000-1/50,000

●

●

43

黏多醣症第3C型(聖菲利柏氏症)

Mucopolysaccharidosis, Type IIIC (Sanfilippo Syndrome)

HGSNAT

1/70,000

1/134

●

●

44

黏脂質症第四型

Mucolipidosis IV

MCOLN1

1/40,000

1/100

●

●

45

甲基丙二酸血症Vitamin B12-Responsive型

Methylmalonic Aciduria, Vitamin B12-Responsive

MMAA

1/50,000-1/100,000

1/112-1/159

●

●

46

甲基丙二酸血症cblB 型

Methylmalonic Acidemia, cblB Type

MMAB

1/50,000-1/100,000

1/112-1/159

●

●

47

先天巨核細胞缺乏血小板低下症

Congenital Amegakaryocytic Thrombocytopenia

MPL

-

1/500

●

●

48

甲基丙二酸血症 mut(0) 型

Methylmalonic Aciduria, mut(0) Type

MUT

1/50,000-1/100,000

1/112-1/159

●

●

49

桿狀體肌症第二型

Nemaline Myopathy 2

NEB

1/1,000,000

1/500

●

●

50

CI型尼曼匹克氏症

Niemann-Pick Disease, Type CI

NPC1

1/150,000

1/194

●

●

51

CII型尼曼匹克氏症

Niemann-Pick Disease, Type CII

NPC2

1/150,000

1/194

●

●

52

眼睛皮膚白化症第二型

Oculocutaneous Albinism Type 2, OCA2

OCA2

1/20,000

1/71

●

●

53

尤塞氏綜合症1F型

Usher Syndrome, Type 1F 

PCDH15

1/730,000

1/428

●

●

54

布盧姆綜合症

Bloom Syndrome

RECQL3
(BLM)

1/1,000,000

1/500

●

●

55

肢帶型肌失養症2D型

Limb-Girdle Muscular Dystrophy, Type 2D

SGCA

-

1/126

●

●

56

肢帶型肌失養症2E型

Limb-Girdle Muscular Dystrophy, Type 2E

SGCB

-

1/126

●

●

57

A型尼曼匹克症

Niemann-Pick Disease, Type A

SMPD1

1/250,000

1/251

●

●

58

B型尼曼匹克症

Niemann-Pick Disease, Type B

59

Joubert 氏症候群（家族性小腦蚓部發育不全)

Joubert Syndrome 2

TMEM216

1/1,000,000

1/500

●

●

60

眼睛皮膚白化症第一型

Oculocutaneous Albinism Type 1, OCA1

TYR

1/20,000

1/71

●

●

61

變異性紅斑角皮症第一型

Erythrokeratodermia Variabilis Et Progressiva 1

GJB3

-

-

●

●

62

鐮刀型貧血/鐮刀型紅血球疾病

Sickle Cell Anemia, Sickle-Cell Disorders

HBB

1/1,000,000

1/500

●

16

感覺神經性聽損

Sensorineural Hearing Loss

MTRNR1

-

-

●

63

Triple A症候群

Achalasia-Addisonianism-Alacrima Syndrome (Triple A Syndrome)

AAAS

1/1,000,000

1/500

●

64

進行性家族性肝內膽汁滯留症第二型

Progressive Familial Intrahepatic Cholestasis, Type 2

ABCB11

1/50,000-1/100,000

1/112-1/159

●

65

良性反覆性肝內膽汁滯留第二型

Cholestasis, Benign Recurrent Intrahepatic, 2

66

彈性纖維假黃瘤

Pseudoxanthoma Elasticum

ABCC6

1/50,000

1/112

●

67

Arterial Calcification, Generalized, of Infancy, 2

68

腎上腺白質退化症

Adrenoleukodystrophy

ABCD1

1/20,000-1/50,000

1/10,000-1/25,000

●

69

粒線體複合物I缺乏症第20型

Mitochondrial Complex I Deficiency, Nuclear Type 20

ACAD9

1/8,500

1/47

●

70

中鏈醯輔酶Α去氫酶缺乏症

Medium-Chain Acyl-CoA Dehydrogenase Deficiency

ACADM

1/17,000-1/263,500

1/66-1/257

●

71

短鏈脂肪酸去氫酵素缺乏症

Short-Chain Acyl-CoA Dehydrogenase Deficiency

ACADS

1/35,000-1/50,000

1/94-1/112

●

72

長鏈醯輔酶A去氫酶缺乏症

Very Long-Chain Acyl-CoA Dehydrogenase Deficiency

ACADVL

1/40,000-1/120,000

1/100-1/174

●

73

β-酮硫解酶缺乏症

Beta-Ketothiolase Deficiency

ACAT1

1/1,000,000

1/500

●

74

丙二酸及甲基丙二酸綜合酸血症

Combined Malonic and Methylmalonic Aciduria

ACSF3

-

-

●

75

腺苷脫氨酶缺乏症

Adenosine Deaminase Deficiency

ADA

1/200,000-1/1,000,000

1/224-1/500

●

76

膠原蛋白發育異常埃勒斯-當洛斯综合症

Ehlers Danlos Syndrome, Type VIIC

ADAMTS2

1/1,000,000

1/500

●

77

雙側額頂葉多小腦迴

Polymicrogyria, Bilateral Frontoparietal

ADGRG1

1/1,000,000

1/500

●

78

天冬氨醯葡萄糖胺尿症

Aspartylglucosaminuria

AGA

1/1,000,000

1/500

●

79

肝醣儲積症第三型

Glycogen Storage Disease, Type III

AGL

1/100,000

1/159

●

80

原發性高草酸尿症1型

Primary Hyperoxaluria, Type I

AGXT

-

1/289

●

81

自體免疫多腺體症候群

Autoimmune Polyglandular Syndrome, Type I

AIRE

1/90,000-1/200,000

1/150-1/224

●

82

鳩拉二氏症候群

Sjögren-Larsson Syndrome

ALDH3A2

1/250,000

1/250

●

83

遺傳性果糖不耐症

Hereditary Fructose Intolerance

ALDOB

1/20,000-1/30,000

1/71-1/81

●

84

先天糖基化疾病第1C型

Congenital Disorder of Glycosylation, Type Ic

ALG6

-

-

●

85

阿爾斯特倫症候群

Alstrom Syndrome

ALMS1

1/1,000,000

1/500

●

86

低磷酸酯酶症

Hypophosphatasia

ALPL

1/100,000

1/159

●

87

甘氨酸腦病

Glycine Encephalopathy

AMT

GLDC

-

-

1/316

1/125

●

88

MEDNIK症候群

MEDNIK Syndrome

AP1S1

1/1,000,000

1/500

●

89

精胺酸血症

Argininemia

ARG1

1/1000000

1/500

●

90

異染性腦白質退化症

Metachromatic Leukodystrophy

ARSA

1/40,000-1/160,000

1/100-1/200

●

91

性聯隱性遺傳-點狀軟骨發育不良

Chondrodysplasia Punctata, X-Linked Recessive

ARSE

-

-

●

92

精氨基琥珀酸尿症

Argininosuccinic Aciduria

ASL

1/70,000

1/132

●

93

天門冬醯胺合成缺乏症

Asparagine Synthetase Deficiency

ASNS

-

-

●

94

共濟失調微血管擴張症候群

Ataxia-Telangiectasia

ATM

1/40,000-1/100,000

1/101-1/159

●

95

性聯遺傳-智能發展遲緩合併肌肉低張力及臉部畸形症候群

Mental Retardation-Hypotonic Facies Syndrome, X-Linked

ATRX

1/1,000,000

1/500,000

●

96

甲型海洋性貧血/智能發展遲緩症候群

Alpha-Thalassemia/Mental Retardation Syndrome

97

巴德-畢德氏症候群第1型

Bardet-Biedl Syndrome, Type 1

BBS1

Bedouin 1/13,500
 Northern European  1/160,000

Bedouin 1/184
 Northern European 1/200

●

98

巴德-畢德氏症候群第10型

Bardet-Biedl Syndrome, Type 10

BBS10

Bedouin 1/13,500
 Northern European  1/160,000

Bedouin 1/184
 Northern European 1/200

●

99

巴德-畢德氏症候群第12型

Bardet-Biedl Syndrome, Type 12

BBS12

Bedouin 1/13,500
 Northern European 1/160,000

Bedouin 1/184
 Northern European 1/200

●

100

巴德-畢德氏症候群第二型

Bardet-Biedl Syndrome 2

BBS2

1/140,000-1/160,000

1/188-1/201

●

101

視網膜色素病變第74型

Retinitis Pigmentosa 74

1/3,500-1/4,000

1/30-1/32

●

102

假性膽鹼酯酶缺乏症

Pseudocholinesterase Deficiency

BCHE

1/3,200-1/5,000

1/29-1/36

●

103

GRACILE 症候群

GRACILE Syndrome

BCS1L

1/1,000,000

1/500

●

104

Bjornstad氏症候群

Bjornstad Syndrome

105

粒線體第三蛋白複合體缺陷

Mitochondrial Complex III Deficiency, Nuclear Type 1

106

Bartter氏症候群第四型

Bartter Syndrome, Type IV

BSND

American 1/1,000,000

American 1/500

●

107

生物素酶缺乏症

Biotinidase Deficiency

BTD

1/60,000

1/123

●

108

Desbuquois氏發育不全症第一型

Desbuquois Dysplasia, Type I

CANT1

1/1,000,000

1/500

●

109

多發性骨骺發育不全症第七型

Epiphyseal Dysplasia, Multiple, 7

-

-

●

110

高胱胺酸尿症

Homocystinuria due to Cystathionine Beta-Synthase Deficiency

CBS

1/200,000-1/335,000

1/235-1/290

●

111

尤塞氏症候群 1D型

Usher Syndrome, Type ID

CDH23

-

1/277

●

112

體染色體隱性耳聾 12型

Deafness, Autosomal Recessive 12

1/1,000,000

1/500

113

家族性小腦蚓部發育不全第五型

Joubert Syndrome 5

CEP290

1/80,000-1/100,000

1/142-1/159

●

114

梅克爾症候群第四型

Meckel Syndrome 4

1/13,250-1/40,000

1/58-1/188

115

家族腎視網膜營養不良第六型

Senior-Loken Syndrome 6

1/1,000,000

1/500

116

脈絡膜缺失症

Choroideremia

CHM

1/50,000-1/100,000

1/25,000-1/50,000

●

117

裸淋巴球症候群第二型A組

Bare Lymphocyte Syndrome, Type II, Complementation Group A

CIITA

-

-

●

118

CLN3相關-神經元蠟樣脂褐質儲積症

CLN3-Related Neuronal Ceroid Lipofuscinosis

CLN3

1/100,000

1/159

●

119

神經元蠟樣脂褐質儲積症第五型

Ceroid Lipofuscinosis, Neuronal, 5

CLN5

1/12,500
1/1,000,000

1/56
1/500

●

120

神經元蠟樣脂褐質儲積症第六型

Ceroid Lipofuscinosis, Neuronal, 6

CLN6

1/1,000,000

1/500

●

121

神經元蠟樣脂褐質儲積症第4A型

Ceroid Lipofuscinosis, Neuronal, 4A

●

122

神經元蠟樣脂褐質儲積症第八型

Ceroid Lipofuscinosis, Neuronal, 8

CLN8

1/1,000,000

1/500

●

123

色彩感應失能症第二型

Achromatopsia 2

CNGA3

1/30,000

1/87

●

124

色彩感應失能症第三型

Achromatopsia 3

CNGB3

1/30,000

1/87

●

125

亞伯氏症候群第二型

Alport Syndrome Type 2

COL4A3

1/50,000

1/112

●

126

隱性遺傳亞伯氏症候群

Alport Syndrome, Autosomal Recessive

COL4A4

1/50,000

1/112

●

127

性聯遺傳亞伯氏症候群

Alport Syndrome, X-Linked

COL4A5

1/50,000

1/112

●

128

體染色體隱性表皮溶解水皰肌強直症

Dystrophic Epidermolysis Bullosa, AR

COL7A1

-

1/345

●

129

氨甲醯磷酸合成酶缺失症第一型

Carbamoylphosphate Synthetase I Deficiency

CPS1

1/800,000

1/448

●

130

肉鹼棕櫚醯基轉移酶缺乏第一型

Carnitine Palmitoyltransferase I Deficiency

CPT1A

1/1,000,000

1/500

●

131

肉鹼棕櫚醯基轉移酶缺乏第二型

Carnitine Palmitoyltransferase II Deficiency

CPT2

1/1,000,000

1/500

●

132

胱胺酸症

Cystinosis

CTNS

1/100,000-1/200,000

1/159-1/224

●

133

緻密性成骨不全症

Pycnodysostosis

CTSK

1/1,000,000

1/500

●

134

體染色體隱性遺傳慢性肉芽腫 疾病

Chronic Granulomatous Disease, Autosomal, due to Deficiency of CYBA

CYBA

1/200,000-1/250,000

1/224-1/251

●

135

性聯遺傳慢性肉芽腫疾病

Chronic Granulomatous Disease, X-Linked

CYBB

1/200,000-1/250,000

1/100,000-1/125,000

●

136

性聯遺傳免疫缺失疾病第34型，分枝桿菌感染症

Immunodeficiency 34, Mycobacteriosis, X-Linked

1/1,000,000

1/500

●

137

先天性腎上腺增生症

11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia

CYP11B1

1/100,000-1/200,000

1/159-1/224

●

138

皮質酮甲基氧化酶缺乏症

Corticosterone Methyloxidase Deficiency

CYP11B2

1/1,000,000

1/500

●

139

17-α-羥化酶缺乏引起之先天性腎上腺增生

Adrenal Hyperplasia, Congenital, due to 17-Alpha-Hydroxylase Deficiency

CYP17A1

1/1,000,000

1/500

●

140

維生素D缺乏型侏儒症第一型乙型

Vitamin D Hydroxylation-Deficient Rickets, Type 1B

CYP2R1

1/200,000

1/224

●

141

原發性嬰幼兒型青光眼

Primary Congenital Glaucoma

CYP1B1

1/10,000

1/51

●

142

腦腱性黃瘤症

Cerebrotendinous Xanthomatosis

CYP27A1

1/1,000,000

1/500

●

143

第一型遺傳性維生素D依賴型佝僂症

Vitamin D-Dependent Rickets, Type I

CYP27B1

1/200,000

1/224

●

144

歐門氏症候群

Omenn Syndrome

DCLRE1C

1/1,000,000

1/500

●

145

Smith-Lemli-Opitz 症候群

Smith-Lemli-Opitz Syndrome

DHCR7

1/20,000-1/60,000

1/71-1/123

●

146

視網膜色素病變 59型

Retinitis Pigmentosa 59

DHDDS

-

1/296

●

147

X染色體性聯遺傳先天性角化不全症

Dyskeratosis Congenita, X-Linked

DKC1

1/5,000,000

1/2,500,000

●

148

肌無力症候群第10型

Myasthenic Syndrome, Congenital, 10

DOK7

-

1/1119

●

149

二氫嘧啶脫氫酶缺乏症

Dihydropyrimidine Dehydrogenase Deficiency

DPYD

1/1,000,000

1/500

●

150

少汗性外胚層發育不良症

Hypohidrotic Ectodermal Dysplasia

EDAR

1/20,000

1/71

●

151

Emery-Dreifuss肌失養症

Emery-Dreifuss Muscular Dystrophy

EMD

1/164,000

1/82,000

●

152

致死先天性攣縮綜合徵第二型

Lethal Congenital Contracture Syndrome 2

ERBB3

1/1,000,000

1/500

●

153

大腦-眼眶-臉部-骨骼異常症候群第一型

Cerebrooculofacioskeletal Syndrome 1

ERCC6

1/1,000,000

1/151

●

154

柯凱因氏症候群第B型

Cockayne Syndrome, type B

1/330,000-1/500,000

1/288-1/354

155

德-桑克蒂斯-凱基奧內症候群

De Sanctis-Cacchione Syndrome

1/1,000,000

1/500

156

UV敏感症候群第1型

UV-Sensitive Syndrome 1

-

-

●

157

柯凱因氏症候群第A型

Cockayne Syndrome, Type A

ERCC8

1/330,000-1/500,000

1/288-1/354

●

158

UV敏感症候群第2型

UV-Sensitive Syndrome 2

-

-

159

乙基丙二酸腦病變

Ethylmalonic Encephalopathy

ETHE1

1/1,000,000

1/500

●

160

第一型酪胺酸血症

Tyrosinemia, Type I

FAH

1/100,000

1/92

●

161

范可尼氏貧血症A型

Fanconi Anemia,Complementation Group A

FANCA

1/160,000

1/201

●

162

延胡索酸酶缺乏症

Fumarase Deficiency

FH

1/1,000,000

1/500

●

163

Krabbe氏症(球細胞腦白質失養症)

Krabbe Disease

GALC

-

1/158

●

164

半乳糖激酶缺乏症

Galactokinase Deficiency

GALK1

1/100,000

1/158

●

165

高磷血症家族性腫瘤性鈣質沉著症

Hyperphosphatemic Familial Tumoral Calcinosis

GALNT3

1/1,000,000

1/500

●

166

先天性腦部肌酸缺乏症候群第二型

Cerebral Creatine Deficiency Syndrome 2 , CCDS2

GAMT

1/1,000,000

1/500

●

167

先天性腦部肌酸缺乏症候群第三型

Cerebral Creatine Deficiency Syndrome 3 , CCDS3

GATM

1/1,000,000

1/500

●

168

肝醣儲積症第四型

Glycogen Storage Disease, Type IV

GBE1

1/100,000

1/159

●

169

成人葡萄糖多聚體病

Adult Polyglucosan Body Neuropathy

1/1,000,000

1/500

170

杜潘症候群

Du Pan Syndrome

GDF5

1/1,000,000

1/500

●

171

軟骨發育不良症, Grebe 型

Chondrodysplasia, Grebe Type

1/1,000,000

1/500

●

172

結合性氧化磷酸化缺乏症第1型

Combined Oxidative Phosphorylation Deficiency 1

GFM1

-

-

●

173

進行性腓骨肌萎縮症

Charcot-Marie-Tooth Disease, X-Linked Dominant, 1

GJB1

-

-

●

174

體染色體隱性聽損1B型

Deafness, Autosomal Recessive 1B

GJB6

1/1,000,000

1/500

●

175

GM1神經節苷脂儲積症第一型

GM1-Gangliosidosis, Type I

GLB1

1/1,000,000

1/500

●

176

GM1神經節苷脂儲積症第二型

GM1-Gangliosidosis, Type II

177

GM1神經節苷脂儲積症第三型

GM1-Gangliosidosis, Type III

178

第四型黏多醣症

Mucopolysaccharidosis, Type IV

1/10,000-5/10,000

1/50-1/71

179

包涵體肌炎

Nonaka Myopathy

GNE

1/1,000,000

1/500

●

180

黏脂質症 第二型

Mucolipidosis, Type II Alpha/Beta

GNPTAB

1/1,000,000

1/500

●

181

黏脂質症 第三型

Mucolipidosis III Alpha/Beta

182

伯納德－蘇里爾症候群第A1型

Bernard-Soulier Syndrome, Type A1

GP1BA

1/1,000,000

1/500

●

183

易感性非動脈炎性前部缺血性視神經病變

Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility to

American 1/10,000-1/50,000

American 1/51-1/112

184

伯納德－蘇里爾症候群第C型

Bernard-Soulier Syndrome, Type C

GP9

1/1,000,000

1/500

●

185

致死先天性攣縮綜合徵

Lethal Congenital Contracture Syndrome 1

GLE1

1/1,000,000

1/500

●

186

原發性高草酸尿症2型

Primary Hyperoxaluria, Type II

GRHPR

-

1/381

●

187

長鏈3-羥基酰基-CoA脫氫酶缺乏症

Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency

HADHA

Finnish 1/62,000

Finnish 1/125

●

188

粒線體三功能蛋白缺乏症

Mitochondrial Trifunctional Protein Deficiency

-

-

189

嚴重先天性嗜中性白血球減少症第三型

Severe Congenital Neutropenia-3

HAX1

1/1,000,000

1/500

●

190

山德霍夫症

Sandhoff Disease

HEXB

-

1/500

●

191

第二型遺傳性血鐵沉著症

Hemochromatosis, Type 2A

HFE2

Caucasian 1/250

Caucasian 1/8

●

192

黑尿症

Alkaptonuria

HGD

1/250,000-1/1,000,000

1/250-1/500

●

193

多發性羧化酶缺乏症

Holocarboxylase Synthetase Deficiency

HLCS

-

1/224

●

194

3-羥基-3-甲基戊二酸尿症

3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency

HMGCL

1/1,000,000

1/500

●

195

Hermansky-Pudlak氏症候群第三型

Hermansky-Pudlak Syndrome, Type III

HPS3

1/500,000-1/1,000,000

1/354-1/500

●

196

第三型17-β-羥基類固醇脫氫酶缺乏症

17-Beta Hydroxysteroid Dehydrogenase III Deficiency

HSD17B3

1/147,000

1/192

●

197

D型雙功能蛋白缺乏症

D-Bifunctional Protein Deficiency

HSD17B4

1/100,000

1/159

●

198

Perrault氏症候群第一型

Perrault Syndrome 1

-

-

199

第二型3-β-羥基類固醇脫氫酶缺乏引起之先天性腎上腺增生

Adrenal Hyperplasia, Congenital, due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency

HSD3B2

1/1,000,000

1/500

●

200

異戊酸血症

Isovaleric Acidemia

IVD

American 1/250,000

American 1/250

●

201

嚴重複合型免疫缺乏症

Severe Combined Immunodeficiency, Autosomal Recessive,T Cell-Negative, B Cell-Positive, NK Cell-Negative

JAK3

1/50,000

1/112

●

202

遺傳性高胰島素血症性低血糖症第二型

Hyperinsulinemic Hypoglycemia, Familial, 2

KCNJ11

1/1,000,000

1/500

●

203

先天性肌肉失養症

Congenital Muscular Dystrophy

LAMA2

1/40,000-1/50,000

1/100-1/112

●

204

肢帶型肌失養症23型

Limb-Girdle Muscular Dystrophy, Type 23

1/1,000,000

1/500

●

205

Herlitx表皮分解水皰症

Junctional Epidermolysis Bullosa, Herlitz Type

LAMB3

1/1,000,000

1/500

●

206

Non-Herlitx表皮分解水皰症

Junctional Epidermolysis Bullosa, Non-Herlitz Type

207

MAPBP相互作用蛋白缺陷之免疫缺陷

Immunodeficiency due to Defect in Mapbp-Interacting Protein

LAMTOR2

1/1,000,000

1/500

●

208

萊伯氏先天性黑矇症第五型

Leber Congenital Amaurosis Type 5

LCA5

-

1/643

●

209

膽固醇酯缺乏病

Norum Disease

LCAT

1/1,000,000

1/500

●

210

結合性腦下垂體賀爾蒙缺失第3型

Pituitary Hormone Deficiency, Combined, 3

LHX3

1/8,000

1/45

●

211

Stuve-Wiedemann 症候群

Stuve-Wiedemann Syndrome

LIFR

1/1,000,000

1/500

●

212

溶酶體酸性脂肪酶缺乏症

Lysosomal Acid Lipase Deficiency

LIPA

1/40,000-1/300,000

1/100-1/274

●

213

體染色體隱性羊毛狀頭髮/毛髮稀疏症

Autosomal Recessive Woolly Hair/Hypotrichosis

LIPH

1/10,000

1/50

●

214

高脂血症第一型

Hyperlipoproteinemia, Type I

LPL

1/1,000,000

1/500

●

215

法國-加拿大型亞急性壞死性腦脊髓病

Leigh Syndrome, French-Canadian Type

LRPPRC

-

1/100

●

216

闕東二氏症候群

Chediak-Higashi Syndrome

LYST

1/1,000,000

1/500

●

217

α型甘露糖症

Alpha-Mannosidosis

MAN2B1

1/500,000

1/354

●

218

3-甲基巴豆醯輔酵素羧化酵素缺乏症第一型

3-Methylcrotonyl-CoA Carboxylase 1 Deficiency

MCCC1

1/36,000

1/95

●

219

3-甲基巴豆醯輔酵素羧化酵素缺乏症第二型

3-Methylcrotonyl-CoA Carboxylase 2 Deficiency

MCCC2

1/36,000

1/95

●

220

雷特氏症

Rett Syndrome

MECP2

1/9,000-1/10,000

1/4,500-1/5,000

●

221

嚴重新生兒腦病變

Severe Neonatal Encephalopathy

-

-

222

性聯遺傳易感性自閉症第三型

Autism Susceptibility, X-Linked 3

-

-

223

性聯遺傳精神發育遲緩症候群第13型

Mental Retardation, X-Linked, Syndromic 13

-

-

●

224

家族性地中海熱

Familial Mediterranean Fever

MEFV

1/10,000

1/50

●

225

神經元蠟樣脂褐質儲積症第七型

Ceroid Lipofuscinosis, Neuronal, 7

MFSD8

1/1,000,000

1/500

●

226

黃斑失養症

Macular Dystrophy with Central Cone Involvement

227

腦白質病併皮層下囊腫

Leukoencephalopathy with Subcortical Cysts

MLC1

1/1,000,000

1/500

●

228

甲基丙二酸血症併高胱胺酸血症cblC 型

Methylmalonic Aciduria and Homocystinuria, cblC Type

MMACHC

1/200,000

1/224

●

229

先天性醣基化障礙第1B型

Congenital Disorder of Glycosylation, Type IB

MPI

Asian 1/10,000

Asian 1/50

●

230

肝腦粒線體DNA缺乏症候群第六型

Hepatocerebral Mitochondrial DNA Depletion Syndrome Type 6

MPV17

1/1,000,000

1/500

●

231

類共濟失調性毛细血管擴張症

Ataxia-Telangiectasia-Like Disorder 1

MRE11A

1/1,000,000

1/500

●

232

肌小管病變

Myotubular Myopathy

MTM1

1/50,000

1/25,000

●

233

無β脂蛋白血症

Abetalipoproteinemia

MTTP

1/1,000,000

1/500

●

234

尤塞氏症候群 1B型

Usher Syndrome, Type IB

MYO7A

-

1/169

●

235

體染色體聽損第二型

Deafness, Autosomal Recessive 2

1/1,000,000

1/500

236

奈梅亨破損症候群

Nijmegen Breakage Syndrome

NBN

1/100,000

1/159

●

237

進行性神經性腓骨萎縮症第4D型

Charcot-Marie-Tooth Disease, Type 4D

NDRG1

1/10,000-5/10,000

1/51-1/112

●

238

腎病症候群

Nephrotic Syndrome, Type I

NPHS1

Finnish 1/10,000

Finnish 1/51

●

239

類固醇阻抗腎病症候群

Steroid-Resistant Nephrotic Syndrome

NPHS2

1/100,000-3/100,000

1/92-1/159

●

240

增強型S-圓錐徵候症

Enhanced S-cone Syndrome

NR2E3

1/1,000,000

1/500

●

241

色素性視網膜炎第37型

Retinitis Pigmentosa 37

1/10,000-5/10,000

1/23-1/56

242

先天腎上腺發育不良

Adrenal Hypoplasia, Congenital

NR0B1

-

-

●

243

先天性痛不敏感症合併無汗症

Congenital Insensitivity to Pain with Anhidrosis

NTRK1

1/1,000,000

1/500

●

244

3-甲基戊二酸尿症第三型

3-Methylglutaconic Aciduria, Type III

OPA3

1/1,000,000

1/500

●

245

鳥胺酸氨甲醯基轉移酶缺乏症

Ornithine Transcarbamylase Deficiency

OTC

1/14,000-1/77,000

1/7,000-1/38,500

●

246

PCCA基因相關丙酸血症

Propionic Acidemia, PCCA-Related

PCCA

1/100,000

1/159

●

247

PCCB基因相關丙酸血症

Propionic Acidemia, PCCB-Related

PCCB

1/100,000

1/159

●

248

甲型丙酮酸鹽脫氫酶缺乏症

Pyruvate Dehydrogenase E1-Alpha Deficiency

PDHA1

1/1,250,000

1/625,000

●

249

乙型丙酮酸鹽脫氫酶缺乏症

Pyruvate Dehydrogenase E1-Beta Deficiency

PDHB

1/1,000,000

1/500

●

250

脯氨酸肽酶缺乏症

Prolidase Deficiency

PEPD

1/1,000,000-1/2,000,000

1/500-1/708

●

251

粒線體複合物IV 缺乏症

Mitochondrial Complex IV Deficiency

PET100

1/1,000,000

1/500

●

252

過氧化體生合成症 6型

Peroxisome Biogenesis Disorder, Type 6

PEX10

1/1,000,000

1/500

●

253

過氧化體生合成症 3型

Peroxisome Biogenesis Disorder, Type 3

PEX12

1/1,000,000

1/500

●

254

過氧化體生合成症 5型

Peroxisome Biogenesis Disorder, Type 5

PEX2

1/1,000,000

1/500

●

255

Heimler 症候群 2型

Heimler Syndrome 2

PEX6

1/1,000,000

1/500

●

256

過氧化體生合成症 4A型(趙葦格氏症)
Peroxisome Biogenesis Disorder 4A (Zellweger)

257

肢近端型點狀軟骨發育不良第一型

Rhizomelic Chondrodysplasia Punctata, Type I

PEX7

1/100,000

1/159

●

258

過氧化體生合成症 9B型

Peroxisome Biogenesis Disorder 9B

1/50,000

1/112

259

肝醣儲積症第七型

Glycogen Storage Disease, Type VII

PFKM

1/1,000,000

1/500

●

260

磷酸甘油酸脫氫酶缺乏症

Phosphoglycerate Dehydrogenase Deficiency

PHGDH

1/1,000,000

1/500

●

261

Neu-Laxova症候群

Neu-Laxova Syndrome 1

262

慢性兒童型腦硬化症

Pelizaeus-Merzbacher Disease

PLP1

1/200,000-1/500,000

1/100,000-1/250,000

●

263

遺傳性痙攣性下身麻痺第二型

Spastic Paraplegia 2, X-Linked

2/100,000-6/100,000

1/65-1/112

264

先天性醣基化障礙第1A型

Congenital Disorder of Glycosylation, Type IA

PMM2

1/20,000

1/71

●

265

肌營養不良性肌萎縮性疾病 (先天性腦眼異常)

Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies)

POMGNT1

1/14,500-1/123,000

1/60-1/176

●

266

視網膜色素病變 76型

Retinitis Pigmentosa 76

1/1,000,000

1/500

●

267

神經元蠟樣脂褐質儲積症第一型

Ceroid Lipofuscinosis, Neuronal, 1

PPT1

1/1,000,000

1/500

●

268

結合性腦下垂體賀爾蒙缺失第2型

Pituitary Hormone Deficiency, Combined, 2

PROP1

1/8,000

1/45

●

269

藝術症候群

Arts Syndrome

PRPS1

1/1,000,000

1/500,000

●

270

進行性腓骨肌萎縮症第五型

Charcot-Marie-Tooth Disease, Type 5

271

性聯遺傳聽損第一型

Deafness, X-Linked 1

272

線粒體肌病和鐵粒細胞性貧血

Mitochondrial Myopathy and Sideroblastic Anemia

PUS1

1/1,000,000

1/500

●

273

肝醣儲積症第五型 (麥卡德爾症)

Glycogen Storage Disease, Type V (McArdle Disease)

PYGM

1/100,000

1/159

●

274

卡本特氏症候群第一型

Carpenter Syndrome 1

RAB23

1/1,000,000

1/500

●

275

嚴重複合型免疫缺乏症

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive

RAG1

1/1,000,000

1/500

●

276

細胞與體液免疫缺失症(伴隨肉芽腫)

Combined Cellular and Humoral Immune Defects with Granulomas

277

Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity

278

萊伯氏先天性黑矇症第13型

Leber Congenital Amaurosis 13

RDH12

1/1,000,000

1/500

●

279

水平凝視麻痺併漸進性脊柱側彎

Horizontal Gaze Palsy with Progressive Scoliosis, HGPPS

ROBO3

-

-

●

280

Aicardi-Goutieres症候群第三型

Aicardi-Goutieres Syndrome Type 3

RNASEH2C

-

1/1,444

●

281

X染色體性聯遺傳視網膜裂損症

Retinoschisis 1, X-Linked, Juvenile

RS1

1/15,000

1/7,500

●

282

體染色體隱性先天角化不全症第5型

Dyskeratosis Congenita, Autosomal Recessive 5

RTEL1

1/1,000,000

1/500

●

283

查爾瓦克斯-薩格奈痙攣性共濟失調

Spastic Ataxia of Charlevoix-Saguenay

SACS

1/1,000,000

1/500

●

284

腫瘤性石灰沉著症

Tumoral Calcinosis, Normophosphatemic

SAMD9

1/1,000,000

1/500

●

285

Aicardi-Goutieres症候群第五型

Aicardi-Goutieres Syndrome Type 5

SAMHD1

-

1/1,388

●

286

史黛氏症

Shwachman-Diamond Syndrome

SBDS

1/1,000,000

1/500

●

287

老年樣皮膚營養不良及骨結構不良

Geroderma Osteodysplastica

SCYL1BP1
(GORAB)

1/1,000,000

1/500

●

288

α1-抗胰蛋白酶缺乏症

Alpha-1 Antitrypsin Deficiency

SERPINA1

European 1/1,500-1/3,500

European 1/20-1/30

●

289

吉特曼症候群

Gitelman Syndrome

SLC12A3

1/40,000

1/100

●

290

Andermann症候群

Andermann Syndrome

SLC12A6

French-Canadian 1/2,000

French-Canadian 1/23

●

291

唾液酸貯積症

Salla Disease

SLC17A5

1/1,000,000

1/500

●

292

唾液酸貯積症嬰兒型

Sialic Acid Storage Disorder, Infantile

293

原發性肉鹼缺乏症

Primary Carnitine Deficiency

SLC22A5

Asian 1/40,000

Asian 1/100

●

294

瓜胺酸血症第二型

Citrullinemia Type II

SLC25A13

1/100,000-1/230,000

1/159-1/240

●

295

高鳥胺酸血症-高氨血症-高瓜胺酸血症候群

Ornithine Translocase Deficiency

SLC25A15

1/1,000,000

1/500

●

296

醯基肉鹼轉位酶缺乏症

Carnitine-Acylcarnitine Translocase Deficiency

SLC25A20

-

-

●

297

軟骨生成不全 IB型

Achondrogenesis IB

SLC26A2

1/1,000,000

1/500

●

298

第2型骨發育不全症

Atelosteogenesis, Type II

●

299

多發性骨骺發育不全第 4型

Epiphyseal Dysplasia, Multiple, 4

●

300

畸型發育不良

Diastrophic Dysplasia

●

301

先天性分泌性氯化物腹瀉

Diarrhea 1, Secretory Chloride, Congenital

SLC26A3

-

-

●

302

關節彎曲,智能遲緩及癲癇發作

Arthrogryposis, Mental Retardation and Seizures

SLC35A3

1/1,000,000

1/500

●

303

肝醣儲積症1B型

Glycogen Storage Disease, Type IB

SLC37A4

1/100,000

1/159

●

304

肝醣儲積症1C型

Glycogen Storage Disease, Type IC

1/100,000

1/159

●

305

腸病變性肢端皮膚炎

Acrodermatitis Enteropathica

SLC39A4

1/500,000

1/354

●

306

角膜失養症和感音性失聰症

Corneal Dystrophy and Perceptive Deafness Syndrome

SLC4A11

1/1,000,000

1/500

●

307

性聯遺傳肌酸缺乏症

X-Linked Creatine Deficiency

SLC6A8

1/1,000,000

1/500,000

●

308

阿米什嬰兒癲癇症候群

Amish Infantile Epilepsy Syndrome

ST3GAL5

1/1,000,000

1/500

●

309

脂肪性先天性腎上腺皮質增生症

Congenital Lipoid Adrenal Hyperplasia

STAR

Asian 1/300,000

Asian 1/127

●

310

多發性硫酸脂酶缺乏症

Multiple Sulfatase Deficiency

SUMF1

1/1,000,000

1/500

●

311

酪胺酸血症第二型

Tyrosinemia, Type II

TAT

1/1,000,000

1/500

●

312

體染色體隱性骨質石化症 1型

Osteopetrosis, Autosomal Recessive 1

TCIRG1

1/250,000

1/250

●

313

第三型遺傳性血鐵沉著症

Hemochromatosis, Type 3

TFR2

-

1/982

●

314

體染色體隱性魚鱗癬第一型

Ichthyosis, Congenital, Autosomal Recessive 1

TGM1

-

1/224

●

315

神經元蠟樣脂褐質儲積症第二型

Ceroid Lipofuscinosis, Neuronal, 2

TPP1

1/1,000,000

1/500

●

316

體染色體隱性脊髓小腦退化性動作協調障礙第七型

Spinocerebellar Ataxia, Autosomal Recessive 7

317

Aicardi-Goutieres症候群第一型

Aicardi-Goutieres Syndrome Type 1

TREX1

-

1/1,037

●

318

侏儒症併肌肉、肝、腦、眼異常

Mulibrey Nanism

TRIM37

1/1,000,000

1/500

●

319

結合性氧化磷酸化缺乏症第3型

Combined Oxidative Phosphorylation Deficiency 3

TSFM

1/1,000,000

1/500

●

320

早發性肌病伴致命性心肌病

Early Onset Myopathy with Fatal Cardiomyopathy

TTN

1/1,000,000

1/500

●

321

肢帶型肌肉失養症第10型

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10

322

共濟失調與維生素E缺乏症

Ataxia with Vitamin E Deficiency

TTPA

1/1,000,000

1/500

●

323

克果納傑氏症第一型

Crigler-Najjar Syndrome, Type I

UGT1A1

1/1,000,000

1/500

●

324

克果納傑氏症第二型

Crigler-Najjar Syndrome, Type II

325

吉伯特氏症候群

Gilbert Syndrome

Asian 1/100

Asian 1/6

●

326

血清膽紅素數量性狀基因座第一型

Bilirubin, Serum Level of, Quantitative Trait Locus 1

1/1,000,000

1/500

327

尤塞氏症候群 1C型

Usher Syndrome, Type IC

USH1C

-

1/485

●

328

體染色體隱性耳聾 18A型

Deafness, Autosomal Recessive 18A

-

-

329

舞蹈症-棘狀紅細胞增多症

Choreoacanthocytosis

VPS13A

-

-

●

330

科恩症候群

Cohen Syndrome

VPS13B

-

-

●

331

小腦發育不全症1A 型

Pontocerebellar Hypoplasia, Type IA

VRK1

1/1,000,000

1/500

●

332

著色性乾皮症

Xeroderma Pigmentosum

XPC

American/European 1/1,000,000

American/European  1/500,000

●

333

體染色體隱性僵直性癱瘓第15型

Spastic Paraplegia 15, Autosomal Recessive

ZFYVE26

1/1,000,000

1/500

●