【佳學(xué)基因檢測(cè)】基因檢測(cè)發(fā)病率從高到低排序50名

根據(jù)發(fā)病率從高到低列出50種常見(jiàn)的遺傳病的中英文名字如下：

唐氏綜合征 (Down Syndrome)

囊性纖維化 (Cystic Fibrosis)

地中海貧血 (Thalassemia)

先天性心臟病 (Congenital Heart Disease)

多囊腎病 (Polycystic Kidney Disease)

艾爾斯-丹洛斯綜合征 (Ehlers-Danlos Syndrome)

肌萎縮側(cè)索硬化癥 (Amyotrophic Lateral Sclerosis, ALS)

先天性甲狀腺功能減退癥 (Congenital Hypothyroidism)

先天性腦積水 (Congenital Hydrocephalus)

哈謝奇漢綜合征 (Hirschsprung's Disease)

透明軟骨發(fā)育不全癥 (Achondroplasia)

地中海貧血 (Sickle Cell Disease)

透明質(zhì)酸尿癥 (Mucopolysaccharidosis)

先天性肺氣腫 (Congenital Emphysema)

先天性肌無(wú)力 (Congenital Myasthenia)

成骨不全癥 (Osteogenesis Imperfecta)

多發(fā)性硬化癥 (Multiple Sclerosis)

主動(dòng)脈瓣狹窄 (Aortic Valve Stenosis)

膽固醇酯酶缺乏癥 (Cholesteryl Ester Storage Disease)

酪氨酸病 (Phenylketonuria, PKU)

先天性耳聾 (Congenital Deafness)

先天性腎上腺皮質(zhì)增生癥 (Congenital Adrenal Hyperplasia)

腦出血癥 (Cerebral Hemorrhage)

結(jié)節(jié)性硬化癥 (Tuberous Sclerosis)

橄欖球體變性 (Olivopontocerebellar Atrophy)

腦動(dòng)靜脈畸形 (Cerebral Arteriovenous Malformation)

無(wú)尿癥 (Diabetes Insipidus)

先天性白內(nèi)障 (Congenital Cataract)

維生素D依賴性佝僂病 (Vitamin D-dependent Rickets)

偏頭痛 (Migraine)

特發(fā)性肺動(dòng)脈高壓 (Idiopathic Pulmonary Arterial Hypertension)

先天性甲狀腺功能亢進(jìn)癥 (Congenital Hyperthyroidism)

甲狀腺激素抵抗綜合征 (Thyroid Hormone Resistance Syndrome)

兒童白血病 (Childhood Leukemia)

家族性高膽固醇血癥 (Familial Hypercholesterolemia)

腎性尿崩癥 (Nephrogenic Diabetes Insipidus)

家族性非醛酮尿癥 (Familial Non-ketotic Hyperglycinemia)

新生兒角膜混濁癥 (Neonatal Corneal Opacity)

大腦發(fā)育不全 (Cerebral Dysgenesis)

家族性地中海貧血 (Familial Mediterranean Fever)

漢滕病 (Huntington's Disease)

格林巴利綜合征 (Guillain-Barre Syndrome)

維生素B12依賴性巨幼紅細(xì)胞增多癥 (Vitamin B12-dependent Megaloblastic Anemia)

舒曼-古雷克-曼德?tīng)柧C合征 (Schwannomatosis)

畸形性骨發(fā)育不良 (Dysplasia Epiphysealis Hemimelica)

良性肌陣攣性癲癇 (Benign Adult Familial Myoclonic Epilepsy)

骨軟骨發(fā)育不全 (Chondrodysplasia)

特發(fā)性震顫 (Essential Tremor)

遺傳性前列腺增生 (Hereditary Benign Prostatic Hyperplasia)

特發(fā)性視神經(jīng)萎縮 (Idiopathic Optic Atrophy)

腎上腺皮質(zhì)增生癥 (Congenital Adrenal Hyperplasia)

先天性肌無(wú)力 (Congenital Myasthenic Syndromes)

骨髓增生異常綜合征 (Myelodysplastic Syndromes)

進(jìn)行性肌萎縮癥 (Progressive Muscular Atrophy)

先天性梅毒 (Congenital Syphilis)

先天性免疫缺陷綜合征 (Congenital Immunodeficiency Syndromes)

家族性高膽固醇血癥 (Familial Hypercholesterolemia)

家族性地中海熱 (Familial Mediterranean Fever)

骨軟骨發(fā)育不全癥 (Osteogenesis Imperfecta)

多發(fā)性內(nèi)分泌腺病 (Multiple Endocrine Neoplasia)

先天性視網(wǎng)膜色素變性 (Congenital Retinal Dystrophy)

糖尿病性視網(wǎng)膜病變 (Diabetic Retinopathy)

類風(fēng)濕性關(guān)節(jié)炎 (Rheumatoid Arthritis)

多發(fā)性軟骨瘤 (Multiple Cartilaginous Exostoses)

先天性發(fā)育不全癥 (Congenital Dysplasia)

腎小管酸中毒 (Renal Tubular Acidosis)

隱性多囊腎病 (Autosomal Dominant Polycystic Kidney Disease)

先天性中樞神經(jīng)系統(tǒng)血管畸形 (Congenital Central Nervous System Vascular Malformations)

先天性單側(cè)肺發(fā)育不全 (Congenital Unilateral Pulmonary Hypoplasia)

先天性甲狀腺腫 (Congenital Goiter)

性染色體隱性遺傳病 (X-linked Recessive Inheritance)

維生素D依賴性佝僂病 (Vitamin D-Dependent Rickets)

成骨不全癥 (Osteopetrosis)

骨髓炎 (Osteomyelitis)

家族性腺瘤性息肉病 (Familial Adenomatous Polyposis)

遲發(fā)性肌萎縮癥 (Late-Onset Muscular Atrophy)

先天性肺氣腫 (Congenital Emphysema)

慢性髓鞘脫失癥 (Chronic Demyelinating Neuropathy)

家族性非介導(dǎo)高膽紅素血癥 (Familial Unconjugated Hyperbilirubinemia)

先天性耳聾 (Congenital Deafness)

先天性白內(nèi)障 (Congenital Cataract)

原發(fā)性骨質(zhì)疏松癥 (Primary Osteoporosis)

家族性甲狀旁腺亢進(jìn)癥 (Familial Hyperparathyroidism)

胰島素抵抗綜合征 (Insulin Resistance Syndrome)

腦神經(jīng)元肌纖維溶解 (Neuronal Ceroid Lipofuscinoses)

腎小管葡萄糖吸收異常癥 (Renal Glucose Absorption Defect)

葡萄糖-半乳糖吸收不良 (Glucose-Galactose Malabsorption)

線粒體腦肌病 (Mitochondrial Myopathy)

先天性血小板減少癥 (Congenital Thrombocytopenia)

先天性淋巴細(xì)胞減少癥 (Congenital Lymphocytopenia)

先天性心臟傳導(dǎo)阻滯 (Congenital Heart Block)

先天性血管性水腫 (Congenital Vascular Edema)

家族性腺瘤性結(jié)腸息肉病 (Familial Adenomatous Colonic Polyposis)

多囊胰腺病 (Polycystic Pancreas Disease)

惡性高熱與神經(jīng)精神障礙 (Malignant Hyperthermia with Neuro-Psychiatric Disorders)

先天性胰島素過(guò)度分泌癥 (Congenital Hyperinsulinism)

骨纖維異常增生癥 (Fibrous Dysplasia)

家族性彌漫性纖維化 (Familial Diffuse Fibrosis)

先天性甲狀腺功能亢進(jìn)癥 (Congenital Hyperthyroidism)

肢端肥大癥 (Acromegaly)

這些遺傳病在全球范圍內(nèi)影響著大量的患者，涵蓋了從嬰兒到成人的各個(gè)年齡段和生活階段。