产品:
Meddx_301GeDNA
Meddx 301遗传病基因测试 (單人)
建议给
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适用于18岁或以上男士或女士
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婚前检查、计划生育、有家族性遗传病历史
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准备进行人工辅助生殖
重点检查项目:
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女性会进行301种测试,男性会进行279种测试
- 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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