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产品: Meddx_301GeDNA

Meddx 301遗传病基因测试

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  • 适用于18岁或以上男士及女士

  • 婚前检查、计划生育、有家族性遗传病历史

  • 准备进行人工辅助生殖

 

重点检查项目:

  • 女性会进行301种测试,男性会进行279种测试

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  • 需12毫升血液
  • 测试301种遗传病基因
  • 美国化验
  • 报告需时约3至4星期
  • 测试由美国基因INVITAE上市公司供应
  • 女性会进行301种测试,男性会进行279种测试

 

世界上有20%的主要健康问题与遗传有关!
大部分经遗传而发病的病患,也是严重的疾病!

 

子女若能遗传到父母的优良基因,固然值得欣喜,但如果父母带有遗传隐性疾病基因而不知,有可能会遗传给下一代。与唐氏综合症的机率相比,遗传隐性疾病的发病更高,香港最常见的遗传隐性疾病是地中海贫血症、耳聋、脆性X综合症、脊髓性肌肉萎缩症。基因检测技术普及,只需抽血,便可检测301种遗传隐性疾病基因,令下一代的健康有更多保障。

 

如果呈阳性测试,将提供香港妇产专科医生咨询服务!

 


 

香港最常见的遗传隐性疾病

 

蚕豆症(G6PD
相对普遍的香港遗传病,新生儿每1000 男婴就有50 人患蚕豆症,而每1,000 女婴便有4人患有此遗传病。如能一早验出胎儿遗传蚕豆症,可提早计划未来。

 

甲型及乙型地中海贫血
香港约有12%父母携带地贫基因,情况严重者胎儿会无法存活,而这类母亲到怀孕后期,高血压及大量出血风险亦会提升。如能一早验出胎儿遗传地贫,可提早计划未来。而乙型地贫患者出生后亦需终生输血,有些父母之前或会选择停止怀孕

 

脆性X综合症(Fragile X Syndrome)
智力发展迟缓和自闭症

 

耳聋( GJB2)
新生婴儿出生缺陷最常见的原因之一,研究统计约每五百个新生婴儿就有一个患有听力障碍

 

脊髓性肌肉萎缩症
运动神经元退化,引致肌肉萎缩、无力,最终引致死亡

 

囊性纤维变性
影响肺部及胰脏,患者需接受长期治疗或肺移植

 

庞贝氏症
患者体内无法分解肝糖,故会引致肌肉无力,心脏发大等,初生婴儿患此病,一般活不过1至2岁

 

常见疾病包括:

瓜氨酸血症第一型 Citrullinemia type 1
半乳糖血症(肠淋巴组织相关) Galactosemia(GALT-related)
3-β-羟基类固醇脱氢酶II型缺乏症(先天性肾上腺增生症) 3-beta-hydroxysteroid dehydrogenase typeⅡdeficiency(congenital adrenal hyperplasia)
白胺酸代谢异常症 3-hydroxy-3-methylglutarayl-CoA(HMG-CoA)lyase deficiency
苯丙氨酸羟化酶缺乏症(包括苯丙酮尿症(PKU)) Phenylalanine hydroxylase deficiency (including phenylketonuria (PKU))
I型酪氨酸血症 Tyrosinemia type I
β-硫解酶缺乏症 Beta-ketothiolase deficiency
肉碱棕榈酰转移酶II缺乏症 Carnitine palmitoyltransferase II deficiency
戊二酸尿症1型 Glutaric acidemia type I
同型半胱氨酸尿症(与CBS相关) Homocystinuria (CBS-related)
异戊酸血症 Isovaleric acidemia
枫糖浆尿病(MSUD)2型 Maple syrup urine disease (MSUD) type 2
甲基丙二酸血症(与MMAA相关) Methylmalonic acidemia (MMAA-related)
甲基丙二酸血症(与MMAB相关) Methylmalonic acidemia (MMAB-related)
甲基丙二酸血症(与MUT相关) Methylmalonic acidemia (MUT-related)
丙酸血症(与PCCA相关) Propionic acidemia (PCCA-related)
丙酸血症(与PCCB相关) Propionic acidemia (PCCB-related)
生物素酶缺乏症 Biotinidase deficiency

 

初生婴儿代谢病筛查范围包括:

脆性X综合症 Fragile X syndrome
脊髓性肌肉萎缩症 Spinal muscular atrophy
⍺型地中海型贫血 Alpha-thalassemia
布卢姆综合征/布卢姆—托雷—Machacek综合征 Bloom syndrome
杜兴氏肌肉萎缩症(DMD) DMD-related dystrophinopathy(including Duchenne/Becker muscular dystrophy and dilated cardiomyopathy)
高雪氏症 Gaucher disease
庞贝氏症 Glycogen storage disease typeⅡ(Pompe disease)
黏脂质症第四型 Mucolipidosis typeⅣ
色盲症(CNGB3相关) Achromatopsia (CNGB3-related)
多囊性肾病变(PKHD1相关) Polycystic kidney disease (PKHD1-related)
先天性重症肌无力综合症(与CHRNE相关) Congenital myasthenic syndrome (CHRNE-related)
先天性重症肌无力综合症(与RAPSN相关) Congenital myasthenic syndrome (RAPSN-related)
IX因子缺乏症(血友病B) Factor IX deficiency (hemophilia B)*
6-磷酸葡萄糖脱氢酶(G6PD)缺乏症 Glucose-6-phosphate dehydrogenase(G6PD)deficiency

 

其他包括:

囊肿性纤维化/囊肿性纤维变性/囊肿纤维症/纤维性囊肿 Cystic fibrosis and other CFTR-related disorders
家族性轴突海绵退化 Canavan disease
先天性糖基化障碍(磷酸甘露糖变位酶2引起) Congenital disorder of glycosylation(PMM2-related)
二氢硫辛酰胺脱氢酶缺乏症/线粒体二氢硫辛酸脱氢酶缺乏 Dihydrolipoamide dehydrogenase deficiency(DLD)
家族性自主神经失调症/赖利-戴综合征 Familial dysautonomia
家族性高胰岛素血症(ABCC8相关) Familial hyperinsulinism(ABCC8-related)
范可尼贫血C型 Fanconi anemia type C
与FKTN相关(包括沃克-瓦尔堡综合症) FKTN-related disorder(including Walker-Warbury syndrome)
GJB2相关的DFNB1非综合征性听力损失和耳聋 GJB2-related DFNB1 nonsyndromic hearing loss and deafness
肝糖储积症1A型 Glycogen storage disease type la
Hbβ链相关的血红蛋白病(包括贝他海洋性贫血和镰刀型红血球疾病) HBB-related hemoglobinopathies(including beta-thalassemia and sickle cell disease)
Krabbe氏症(球细胞脑白质失养症) Krabbe disease
枫糖尿症1A型 Maple syrup urine disease(MSUD)type 1A
枫糖尿症1B型 Maple syrup urine disease(MSUD)type 1B
中链脂肪酸去氢酵素缺乏症 Medium chain acyl-CoA dehydrogenase(MCAD)deficiency
3-甲基戊二酸尿酸Ⅲ型(Costeff视神经萎缩) 3-methylglutaconic aciduria typeⅢ(Costeff optic atrophy)
11-β-羟化酶缺陷型先天性肾上腺增生 11-beta-hydroxylase-deficient congenital adrenal hyperplasia
17-α-羟化酶缺陷型先天性肾上腺增生 17-alpha-hydroxylase-deficient congenital adrenal hyperplasia
脂蛋白血症 Abetalipoproteinemia
酰基辅酶A脱氢酶9(ACAD9)缺陷 ACAD9 deficiency
肠炎性皮炎 Acrodermatitis enteropathica
腺苷脱氨酶缺乏症( ADA缺乏症) Adenosine deaminase deficiency
I型粘多糖贮积病(包括Hurler,HurlerScheie和Scheie综合征) Mucopolysaccharidosis type I (including Hurler, HurlerScheie, and Scheie syndromes)
肾上腺肌病2 Nemaline myopathy 2
神经元类脂褐藻病(CLN3相关) Neuronal ceroid-lipofuscinosis (CLN3-related)
尼曼-匹克病A / B型 Niemann-Pick disease type A/B
鸟氨酸转氨甲酰酶(OTC)缺乏症 Ornithine transcarbamylase (OTC) deficiency*
垂体综合征 Pendred syndrome
1型根状软骨发育不良/ Refsum病(与PEX7相关) Rhizomelic chondrodysplasia punctata type 1/Refsum disease (PEX7-related)
史密斯·莱姆利·奥普兹综合征 Smith-Lemli-Opitz syndrome
Tay-Sachs病/己糖胺酶A缺乏症 Tay-Sachs disease/hexosaminidase A deficiency
TMEM216相关疾病(包括Joubert综合征2和Meckel综合征2) TMEM216-related disorders (including Joubert syndrome 2 and Meckel syndrome 2)
Usher综合征IF / PCDH15型相关疾病 Usher syndrome type IF/PCDH15-related disorders
II型/ USH2A型Usher综合征相关疾病 Usher syndrome type IIA/USH2A-related disorders
IIIA型Usher综合征 Usher syndrome type IIIA
肾上腺神经营养不良 X-linked adrenoleukodystrophy*
X连锁严重合并免疫缺陷病(X-SCID) X-linked severe combined immunodeficiency (X-SCID)*
Zellweger频谱障碍(与PEX1相关) Zellweger spectrum disorder (PEX1-related)
Zellweger频谱障碍(与PEX6相关) Zellweger spectrum disorder (PEX6-related)
心律失常综合征(SAMHD1相关) Aicardi-Goutieres syndrome (SAMHD1-related)
醛固酮合酶 Aldosterone synthase deficiency
溶酶体贮积病 Alpha-mannosidosis
地贫X连锁性智力障碍综合征 Alpha-thalassemia X-linked intellectual disability syndrome*
Alport综合征(与COL4A3相关) Alport syndrome (COL4A3-related)
Alport综合征(与COL4A4相关) Alport syndrome (COL4A4-related)
X连锁Alport综合征(与COL4A5相关) Alport syndrome, X-linked (COL4A5-related)*
Alström综合征 Alström syndrome
安德曼综合征/神经元病和a病的PN体发育不全 Andermann syndrome
精氨酸血症 Arginase deficiency
精氨酸琥珀酸尿症 Argininosuccinic aciduria
芳香酶缺乏症 Aromatase deficiency
天冬酰胺合成酶缺乏症 Asparagine synthetase deficiency
天冬氨酰葡糖尿 Aspartylglucosaminuria
缺乏维生素E的共济失调 Ataxia with vitamin E deficiency
共济失调毛细血管扩张 Ataxia-telangiectasia
自身免疫性多内分泌病伴念珠菌病和外胚层发育不良 Autoimmune polyendocrinopathy with candidiasis and ectodermal dysplasia
常染色体隐性遗传性耳聋77(DFNB77) Autosomal recessive deafness 77 (DFNB77)
Charlevoix-Saguenay(ARSACS)的常染色体隐性痉挛性共济失调 Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
Bardet-Biedl综合征(与BBS1相关) Bardet-Biedl syndrome (BBS1-related)
Bardet-Biedl综合征(与BBS2相关) Bardet-Biedl syndrome (BBS2-related)
Bardet-Biedl综合征(与BBS10相关) Bardet-Biedl syndrome (BBS10-related)
Bardet-Biedl综合征(与BBS12相关) Bardet-Biedl syndrome (BBS12-related)
IV型Bartter综合征(与BSND相关) Bartter syndrome type IV (BSND-related)
氨甲酰磷酸合成酶I缺乏症 Carbamoylphosphate synthetase I deficiency
肉碱棕榈酰转移酶I缺乏症 Carnitine palmitoyltransferase I deficiency
木匠综合症(与RAB23相关) Carpenter syndrome (RAB23-related)
软骨-头发发育不全-血管发育异常谱系疾病 Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders
脑性黄瘤病 Cerebrotendinous xanthomatosis
进行性神经性腓骨萎缩症(与NDRG1相关) Charcot-Marie-Tooth disease (NDRG1-related)
与X染色体相关的神经系统疾病(与GJB1相关) Charcot-Marie-Tooth disease, X-linked (GJB1-related)*
胆囊吞噬 Chorea-acanthocytosis
脉络膜炎 Choroideremia*
慢性肉芽肿病(与CYBA相关) Chronic granulomatous disease (CYBA-related)
慢性肉芽肿性疾病(与CYBB相关) Chronic granulomatous disease (CYBB-related)*
柠檬酸缺乏症 Citrin deficiency
库卡因综合征A型 Cockayne syndrome type A
库卡因综合征B型 Cockayne syndrome type B
科恩综合症 Cohen syndrome
合并丙二酸和甲基丙二酸尿症(ACSF3相关) Combined malonic and methylmalonic aciduria (ACSF3-related)
联合氧化磷酸化缺陷(与GFM1相关) Combined oxidative phosphorylation deficiency (GFM1-related)
联合氧化磷酸化缺乏症(与TSFM相关) Combined oxidative phosphorylation deficiency (TSFM-related) T
合并垂体激素缺乏症(与LHX3相关) Combined pituitary hormone deficiency (LHX3-related)
合并垂体激素缺乏症(与PROP1相关) Combined pituitary hormone deficiency (PROP1-related)
合并SAP缺乏症 Combined SAP deficiency
先天性巨核细胞血小板减少症 Congenital amegakaryocytic thrombocytopenia
先天性糖基化疾病(与ALG6相关) Congenital disorder of glycosylation (ALG6-related)
先天性糖基化疾病(与MPI相关) Congenital disorder of glycosylation (MPI-related)
先天性鱼鳞病(TGM1相关) Congenital ichthyosis (TGM1-related)
先天性对无汗症疼痛不敏感 Congenital insensitivity to pain with anhidrosis
先天性中性粒细胞减少症(与HAX1相关) Congenital neutropenia (HAX1-related)
角膜营养不良和知觉性耳聋 Corneal dystrophy and perceptive deafness
醛固酮合酶 Aldosterone synthase deficiency
膀胱炎 Cystinosis
D-双功能蛋白缺乏症 D-bifunctional protein deficiency
DHDDS相关疾病(包括先天性糖基化/色素性视网膜炎59) DHDDS-related disorders (including congenital disorder of glycoslylation/retinitis pigmentosa 59)
营养不良性大疱性表皮松解症(与COL7A1相关) Dystrophic epidermolysis bullosa (COL7A1-related)
Ehlers-Danlos综合征,皮肤稀疏型 Ehlers-Danlos syndrome, dermatosparaxis type
埃利伟氏综合征/软骨外胚层发育不良 Ellis-van Creveld syndrome (EVC-related)
埃利斯·凡·克里夫德综合征(与EVC2相关) Ellis-van Creveld syndrome (EVC2-related)
Emery-Dreifuss肌营养不良症(与EMD相关) Emery-Dreifuss muscular dystrophy (EMD-related)*
增强型S-锥体综合征/色素性视网膜炎37 Enhanced S-cone syndrome/retinitis pigmentosa 37
丙二酸脑病 Ethylmalonic encephalopathy
法布里病/安德森-法布里( Anderson-Fabry)病 Fabry disease*
家族性高胆固醇血症(与LDLR相关) Familial hypercholesterolemia (LDLR-related)
家族性高胆固醇血症(LDLRAP1相关) Familial hypercholesterolemia (LDLRAP1-related)
家族性高胰岛素血症(与KCNJ11相关) Familial hyperinsulinism (KCNJ11-related)
范可尼贫血A型 Fanconi anemia type A
范可尼贫血G型 Fanconi anemia type G
与FKRP相关(包括沃克-瓦尔堡综合症) FKRP-related disorders (including Walker-Warburg syndrome)
富马酸盐水合酶缺乏症 Fumarate hydratase deficiency
半乳糖激酶缺乏症半乳糖血症 Galactokinase deficiency galactosemia
吉特曼综合征(SLC12A3相关) Gitelman syndrome (SLC12A3-related)
II型戊二酸血症(与ETFA相关) Glutaric acidemia type II (ETFA-related)
II型戊二酸血症(与ETFDH相关) Glutaric acidemia type II (ETFDH-related)
甘氨酸脑病(与AMT相关) Glycine encephalopathy (AMT-related)
甘氨酸脑病(与GLDC相关) Glycine encephalopathy (GLDC-related)
糖原贮积病Ib型 Glycogen storage disease type Ib
糖原贮积病III型 Glycogen storage disease type III
糖原贮积病IV型/成人聚葡聚糖体病 Glycogen storage disease type IV/adult polyglucosan body disease
糖原贮积病V型 Glycogen storage disease type V
磷酸果糖激酶缺乏症 Glycogen storage disease type VII
GRACILE综合征/ BCS1L相关疾病(包括线粒体复合体III缺乏症,Bjornstad综合征,Leigh综合征) GRACILE syndrome/BCS1L-related disorders (including mitochondrial complex III deficiency, Bjornstad syndrome, Leigh syndrome)
胍基乙酸甲酯甲基转移酶缺乏症 Guanidinoacetate methyltransferase deficiency
遗传性果糖不耐症 Hereditary fructose intolerance
遗传性血色素沉着病(与HJV相关) Hereditary hemochromatosis (HJV-related)
遗传性血色素沉着病(与TFR2相关) Hereditary hemochromatosis (TFR2-related)
赫曼斯基·普德拉克综合症(与HPS1相关) Hermansky-Pudlak syndrome (HPS1-related)
赫曼斯基·普德拉克综合症(与HPS3相关) Hermansky-Pudlak syndrome (HPS3-related)
整体羧化酶合成酶缺乏症 Holocarboxylase synthetase deficiency
由于MTHFR缺乏引起的同型半胱氨酸尿症 Homocystinuria due to MTHFR deficiency
同型半胱氨酸尿症,钴胺素E型 Homocystinuria, cobalamin E type
1型水let综合征 Hydrolethalus syndrome type 1
高蛋白血症-高氨血症-尿蛋白尿症(HHH)综合征 Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome
少汗性外胚层增生不良症(与EDA相关)* Hypohidrotic ectodermal dysplasia (EDA-related)*
低磷症 Hypophosphatasia
遗传性包涵体肌病 Inclusion body myopathy 2
大结节表皮松解术(LAMA3相关) Junctional epidermolysis bullosa (LAMA3-related)
大结节表皮松解症(与LAMB3相关) Junctional epidermolysis bullosa (LAMB3-related)
大结节表皮松解术(LAMC2相关) Junctional epidermolysis bullosa (LAMC2-related)
LAMA2相关性肌营养不良 LAMA2-related muscular dystrophy
莱伯先天性黑ur病2 Leber congenital amaurosis 2
莱伯先天性黑ur病5 Leber congenital amaurosis 5
莱伯先天性黑度8 / CRB1相关疾病 Leber congenital amaurosis 8/CRB1-related disorders
莱伯先天性黑ur病10 / CEP290相关疾病 Leber congenital amaurosis 10/CEP290-related disorders
莱伯先天性黑ur病13 Leber congenital amaurosis 13
利氏症候群,法属加拿大型 Leigh syndrome, French Canadian type
致命的先天性挛缩症候群1 /致命性关节软化伴前角细胞病 Lethal congenital contracture syndrome 1/lethal arthrogryposis with anterior horn cell disease
白质消失的白质脑病(与EIF2B5相关) Leukoencephalopathy with vanishing white matter (EIF2B5-related)
肢带型肌营养不良症2A型(钙皮病) Limb-girdle muscular dystrophy type 2A (calpainopathy)
肢带型肌营养不良症2B型(营养不良症) Limb-girdle muscular dystrophy type 2B (dysferlinopathy)
肢带型肌营养不良症2C型 Limb-girdle muscular dystrophy type 2C
肢带型肌营养不良症2D型 Limb-girdle muscular dystrophy type 2D
肢带型肌营养不良症2E型 Limb-girdle muscular dystrophy type 2E
脂质先天性肾上腺增生(与STAR相关) Lipoid congenital adrenal hyperplasia (STAR-related)
脂蛋白脂肪酶缺乏症 Lipoprotein lipase deficiency
长链3-羟酰基辅酶A脱氢酶(LCHAD)缺乏 Long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency
赖氨酸尿蛋白不耐受 Lysinuric protein intolerance
溶酶体酸性脂肪酶缺乏症(包括沃尔曼病和胆固醇酯贮积病) Lysosomal acid lipase deficiency (includes Wolman disease and cholesterol ester storage disease)
主要组织相容性复合物II类缺陷(与CIITA相关) Major histocompatibility complex class II deficiency (CIITA-related)
皮质下囊肿1型大脑白质脑病 Megalencephalic leukoencephalopathy with subcortical cysts type 1
脑膜疾病/ ATP7A相关疾病*(包括枕角综合征和末梢遗传性运动神经病) Menkes disease/ATP7A-related disorders* (including occipital horn syndrome and distal hereditary motor neuropathy)
异色性白细胞营养不良(与ARSA相关) Metachromatic leukodystrophy (ARSA-related)
甲基丙二酸血症伴高半胱氨酸尿症,钴胺素C型 Methylmalonic acidemia with homocystinuria, cobalamin C type
甲基丙二酸血症伴高胱氨酸尿症,钴胺素D型 Methylmalonic acidemia with homocystinuria, cobalamin D type
小眼/无眼球畸形(与VSX2相关) Microphthalmia/clinical anophthalmia (VSX2-related)
线粒体复合体I缺乏/李综合征(NDUFAF5相关) Mitochondrial complex I deficiency/Leigh syndrome (NDUFAF5-related)
线粒体复合体I缺乏/李综合征(NDUFS6相关) Mitochondrial complex I deficiency/Leigh syndrome (NDUFS6-related)
线粒体DNA耗竭综合征(与MPV17相关) Mitochondrial DNA depletion syndrome (MPV17-related)
线粒体肌病和铁粒幼细胞贫血1 Mitochondrial myopathy and sideroblastic anemia 1
线粒体神经胃肠道脑病(MNGIE) Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease
梅克尔综合征 MKS1-related disorders
II / III型血脂异常(与N-乙酰氨基葡萄糖-1-磷酸转移酶相关) Mucolipidosis type II/III (GNPTAB-related)
III型血脂异常(与GNPTG相关) Mucolipidosis type III (GNPTG-related)
II型粘多糖贮积病(亨特综合征)* Mucopolysaccharidosis type II (Hunter syndrome)*
IIIA型黏多糖贮积症(Sanfilippo A综合征) Mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)
黏多糖贮积症IIIB型 Mucopolysaccharidosis type IIIB
IIIC型黏多糖贮积症(Sanfilippo综合征)/色素性视网膜炎73 Mucopolysaccharidosis type IIIC (Sanfilippo syndrome)/retinitis pigmentosa 73
IIID型黏多糖贮积症(Sanfilippo综合征) Mucopolysaccharidosis type IIID (Sanfilippo syndrome)
IVB型粘多糖贮积病(Morquio B综合征)/ GM1神经节病 Mucopolysaccharidosis type IVB (Morquio B syndrome)/ GM1 gangliosidosis
透明质酸酶缺乏症 Mucopolysaccharidosis type IX
VI型黏多糖贮积症(Maroteaux-Lamy综合征) Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome)
多种硫酸酯酶缺乏症 Multiple sulfatase deficiency
N-乙酰谷氨酸合酶缺乏症 N-acetylglutamate synthase deficiency
肾性尿崩症(与AQP2相关) Nephrogenic diabetes insipidus (AQP2-related)
肾病综合征/先天性芬兰肾病(与NPHS1相关) Nephrotic syndrome/congenital Finnish nephrosis (NPHS1-related)
肾病综合征/类固醇抵抗性肾病综合征(NPHS2相关) Nephrotic syndrome/steroid-resistant nephrotic syndrome (NPHS2-related)
神经元类固醇脂褐藻病(与MFSD8相关) Neuronal ceroid-lipofuscinosis (MFSD8-related)
神经元类脂褐藻病(PPT1相关) Neuronal ceroid-lipofuscinosis (PPT1-related)
神经元类脂褐藻病(与TPP1相关) Neuronal ceroid-lipofuscinosis (TPP1-related)
神经元类脂褐藻病(CLN5相关) Neuronal ceroid-lipofuscinosis (CLN5-related)
神经元类脂褐藻病(CLN6相关) Neuronal ceroid-lipofuscinosis (CLN6-related)
神经元类固醇脂褐藻病/北部癫痫(与CLN8相关) Neuronal ceroid-lipofuscinosis/Northern epilepsy (CLN8-related)
C型尼曼-皮克病(NPC1相关) Niemann-Pick disease type C (NPC1-related)
尼曼-皮克病C型(与NPC2相关) Niemann-Pick disease type C (NPC2-related)
奈梅亨破裂综合征 Nijmegen breakage syndrome
鸟氨酸氨基转移酶缺乏症 Ornithine aminotransferase deficiency
骨质疏松症(TCIRG1相关) Osteopetrosis (TCIRG1-related)
过氧化物酶体酰基辅酶A氧化酶缺乏症 Peroxisomal acyl-CoA oxidase deficiency
磷酸甘油酸脱氢酶缺乏症/ Neu-Laxova综合征 Phosphoglycerate dehydrogenase deficiency/Neu-Laxova syndrome
polymicrogyria(ADGRG1相关) Polymicrogyria (ADGRG1-related)
与POMGNT1相关的疾病(包括眼部肌肉疾病) POMGNT1-related disorders (including muscle eye brain disease)
桥小脑发育不全(RARS2相关) Pontocerebellar hypoplasia (RARS2-related)
桥小脑发育不全(与SEPSECS相关) Pontocerebellar hypoplasia (SEPSECS-related)
桥小脑发育不全(VRK1相关) Pontocerebellar hypoplasia (VRK1-related)
产后进行性小头畸形伴癫痫发作和脑萎缩/小儿脑和小脑萎缩(与MED17相关) Postnatal progressive microcephaly with seizures and brain atrophy/infantile cerebral and cerebellar atrophy (MED17-related)
全身性原发性肉碱缺乏症 Primary carnitine deficiency
原发性睫状运动障碍(与DNAH5相关) Primary ciliary dyskinesia (DNAH5-related)
原发性睫状运动障碍(DNAI1相关) Primary ciliary dyskinesia (DNAI1-related)
原发性睫状运动障碍(与DNAI2相关) Primary ciliary dyskinesia (DNAI2-related)
原发性高草酸尿症1型 Primary hyperoxaluria type 1
原发性高草酸尿症2型 Primary hyperoxaluria type 2
原发性高草酸尿症3型 Primary hyperoxaluria type 3
2型进行性家族性肝内胆汁淤积 Progressive familial intrahepatic cholestasis type 2
PRPS1相关疾病*(包括5型Charcot-Marie-Tooth病/艺术综合症) PRPS1-related disorders* (including Charcot-Marie-Tooth disease type 5 and Arts syndrome)
脓疱性口病 Pycnodysostosis
丙酮酸羧化酶缺乏症 Pyruvate carboxylase deficiency
丙酮酸脱氢酶缺乏症(PDHA1相关)* Pyruvate dehydrogenase deficiency (PDHA1-related)*
丙酮酸脱氢酶缺乏症(PDHB相关) Pyruvate dehydrogenase deficiency (PDHB-related)
肾小管性酸中毒合并耳聋(ATP6V1B1相关) Renal tubular acidosis with deafness (ATP6V1B1-related)
色素性视网膜炎25 Retinitis pigmentosa 25
色素性视网膜炎26 Retinitis pigmentosa 26
色素性视网膜炎28 Retinitis pigmentosa 28
根状软骨发育不良 Rhizomelic chondrodysplasia punctata type 3
罗伯茨综合征 Roberts syndrome
RPGRIP1L相关疾病(包括乔伯特综合征7,COACH综合征/具有肝缺陷的Joubert综合征和麦克尔综合征5) RPGRIP1L-related disorders (including Joubert syndrome 7, COACH syndrome and Meckel syndrome 5)
RTEL-1相关疾病(包括先天性角化不全) RTEL-1-related disorders (including dyskeratosis congenita)
桑霍夫病 Sandhoff disease
Schimke免疫性骨发育不良 Schimke immuno-osseous dysplasia
严重的合并免疫缺陷(与DCLRE1C相关) Severe combined immune deficiency (DCLRE1C-related)
严重的免疫缺陷/综合症综合症(RAG2相关) Severe combined immunodeficiency/Omenn syndrome (RAG2-related)
严重的先天性中性粒细胞减少症(与VPS45相关) Severe congenital neutropenia (VPS45-related)
唾液酸贮积症 Sialic acid storage disorders
舍格伦-拉尔森综合征 Sjögren-Larsson syndrome
SLC26A2相关疾病(包括营养不良,2型骨质疏松症,1B型软骨发育不良/多发性干multi端发育不良) SLC26A2-related disorders (including diatrophic dysplasia, atelosteogenesis type 2, achondrogenesis type 1B/multiple metaphyseal dysplasia)
SLC35A3相关疾病 SLC35A3-related disorder
痉挛型截瘫15 Spastic paraplegia type 15
痉挛性截瘫49型 Spastic paraplegia type 49
胸腰椎发育不全 Spondylothoracic dysostosis
钢症候群 Steel syndrome
史蒂夫-维德曼综合征 Stüve-Wiedemann syndrome
四氢生物蝶呤缺乏症(PTS相关) Tetrahydrobiopterin deficiency (PTS-related)
短暂性婴儿肝衰竭(与TRMU相关) Transient infantile liver failure (TRMU-related)
酪氨酸羟化酶缺乏症 Tyrosine hydroxylase deficiency
II型酪氨酸血症 Tyrosinemia type II
IB型/ MYO7A型Usher综合征相关疾病 Usher syndrome type IB/MYO7A-related disorders
IC-USH1C型Usher综合征相关疾病 Usher syndrome type IC/USH1C-related disorders
Usher综合征类型ID Usher syndrome type ID
超长链酰基辅酶A脱氢酶(VLCAD)缺乏 Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency
威尔逊氏病 Wilson disease
与WNT10A相关的疾病(包括牙龈炎,真皮不典型增生和Schopf-Schulz-Passarge综合征) WNT10A-related disorders (including odonto-onycho-dermal dysplasia and Schopf-Schulz-Passarge syndrome)
X连锁肌酸转运蛋白缺乏症* X-linked creatine transporter deficiency*
X连锁青少年视网膜分裂症* X-linked juvenile retinoschisis*
X连锁肌管肌病* X-linked myotubular myopathy*
色素干皮补充组A Xeroderma pigmentosum complementation group A
色素干皮补充组C Xeroderma pigmentosum complementation group C
Zellweger频谱障碍(与PEX2相关) Zellweger spectrum disorder (PEX2-related)
Zellweger频谱障碍(与PEX10相关) Zellweger spectrum disorder (PEX10-related)
Zellweger频谱障碍(与PEX12相关) Zellweger spectrum disorder (PEX12-related)
3-甲基巴豆酰基-CoA-羧化酶(3-MCC)缺乏症(MCCC1相关) 3-methylcrotonyl-CoA-caboxylase(3-MCC)deficiency(MCCC1-related)
3-甲基巴豆酰-CoA-羧化酶(3-MCC)缺乏症(MCCC2相关) 3-methylcrotonyl-CoA-caboxylase(3-MCC)deficiency(MCCC2-related)
碱性蛋白尿 Alkaptonuria
Alpha-1抗胰蛋白酶缺乏症 Alpha-1 antitrypsin deficiency
伯纳德-苏利耶综合征(与GP1BA相关) Bernard-Soulier syndrome (GP1BA-related)
伯纳德-苏利耶综合征(与GP9相关) Bernard-Soulier syndrome (GP9-related)
第五凝血因子莱登突变 Factor V Leiden thrombophilia
XI因子缺乏(血友病C) Factor XI deficiency(hemophilia C)
家族性地中海热 Familial Mediterranean fever
遗传性血色素沉着病(与HFE相关) Hereditary hemochromatosis (HFE-related)
凝血酶原相关的血栓形成 Prothrombin-related thrombophilia

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