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肝脏类疾病

3-羟基-3-甲基戊二酸辅酶A裂解酶缺陷，也称为羟甲基戊二酸尿症，与3-羟基-3-甲基戊二酸辅酶A合成酶-2缺陷和脂酶缺陷合并，症状包括心绞痛。与3-羟基-3-甲基戊二酸辅酶A裂解酶缺陷有关的重要基因是HMGCL（3-羟基-3-甲基戊二酸辅酶A裂解酶）。附属组织包括肝脏和皮质，相关表型为高氨血症和代谢性酸中毒。 HMGCLD – 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency

3-羟基-3-甲基戊二酸辅酶A裂解酶缺陷，也称为羟甲基戊二酸尿症，与3-羟基-3-甲基戊二酸辅酶A合成酶-2缺陷和脂酶缺陷合并，症状包括心绞痛。与3-羟基-3-甲基戊二酸辅酶A裂解酶缺陷有关的重要基因是HMGCL（3-羟基-3-甲基戊二酸辅酶A裂解酶）。附属组织包括肝脏和皮质，相关表型为高氨血症和代谢性酸中毒。 HMGCLD – 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency

疾病英文名：HMGCLD - 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency 疾病分类：罕见病 血液系统疾病 肝脏类疾病 其他别名：…

常染色体隐性遗传
2023-11-10 586
肝外胆管小细胞腺癌，也称为肝外胆管燕麦细胞癌。 Extrahepatic Bile Duct Small Cell Adenocarcinoma

肝外胆管小细胞腺癌，也称为肝外胆管燕麦细胞癌。 Extrahepatic Bile Duct Small Cell Adenocarcinoma

疾病英文名：Extrahepatic Bile Duct Small Cell Adenocarcinoma 疾病分类：非罕见病 肿瘤类疾病 肝脏类疾病 其他别名：Oat Cell…

肝脏类疾病
2023-11-10 285
Gracile Syndrome, also known as Finnish lethal neonatal metabolic syndrome, is related to mitochondrial complex III deficiency, nuclear type 1 and Bjornstad syndrome. An important gene associated with Gracile Syndrome is BCS1L (BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. Affiliated tissues include liver and kidney, and related phenotypes are hearing impairment and intrauterine growth retardation. GRACILE – Gracile Syndrome

Gracile Syndrome, also known as Finnish lethal neonatal metabolic syndrome, is related to mitochondrial complex III deficiency, nuclear type 1 and Bjornstad syndrome. An important gene associated with Gracile Syndrome is BCS1L (BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. Affiliated tissues include liver and kidney, and related phenotypes are hearing impairment and intrauterine growth retardation. GRACILE – Gracile Syndrome

疾病英文名：GRACILE - Gracile Syndrome 疾病分类：罕见病 致命性疾病 肝脏类疾病 其他别名：Finnish Lethal Neonatal Metabol…

常染色体隐性遗传
2023-11-10 636
由于葡萄糖-6-磷酸酶缺乏型Ib的糖原贮病，也称为葡萄糖-6-磷酸酶转运缺陷型Ib的糖原贮病，与糖原贮病Ib和葡萄糖-6-磷酸转位酶缺陷有关。与由于葡萄糖-6-磷酸酶缺乏型Ib的糖原贮病有关的重要基因是SLC37A4（溶质载体家族37成员4）。在该疾病的背景下，已提到恩格列净和降糖药。附属组织包括肝脏和肾脏，相关表型为肝肿大和身材矮小。 GSDIB – Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ib

由于葡萄糖-6-磷酸酶缺乏型Ib的糖原贮病，也称为葡萄糖-6-磷酸酶转运缺陷型Ib的糖原贮病，与糖原贮病Ib和葡萄糖-6-磷酸转位酶缺陷有关。与由于葡萄糖-6-磷酸酶缺乏型Ib的糖原贮病有关的重要基因是SLC37A4（溶质载体家族37成员4）。在该疾病的背景下，已提到恩格列净和降糖药。附属组织包括肝脏和肾脏，相关表型为肝肿大和身材矮小。 GSDIB – Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ib

疾病英文名：GSDIB - Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ib 疾病分…

罕见病
2023-11-10 1,019
维生素K依赖性凝血因子1缺陷症，也称为维生素K依赖性凝血因子1缺陷症，与维生素K依赖性凝血因子2和遗传性维生素K依赖性凝血因子缺陷症有关。与维生素K依赖性凝血因子1缺陷症相关的基因是GGCX（γ-谷氨酰羧化酶），其相关通路/超级通路包括γ-羧化、hypusine形成和aryl硫酸酶激活以及华法林通路、药理学。附属组织包括肝脏和骨髓，相关表型包括脑出血和延长的凝血酶原时间。 VKCFD1 – Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1

维生素K依赖性凝血因子1缺陷症，也称为维生素K依赖性凝血因子1缺陷症，与维生素K依赖性凝血因子2和遗传性维生素K依赖性凝血因子缺陷症有关。与维生素K依赖性凝血因子1缺陷症相关的基因是GGCX（γ-谷氨酰羧化酶），其相关通路/超级通路包括γ-羧化、hypusine形成和aryl硫酸酶激活以及华法林通路、药理学。附属组织包括肝脏和骨髓，相关表型包括脑出血和延长的凝血酶原时间。 VKCFD1 – Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1

疾病英文名：VKCFD1 - Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1 疾病分类：非罕见病 血…

常染色体隐性遗传
2023-11-10 1,047
罕见遗传性肝病与高胆红素血症、新生儿暂时性家族性黄疸和胆囊疾病有关。 Rare Genetic Hepatic Disease

罕见遗传性肝病与高胆红素血症、新生儿暂时性家族性黄疸和胆囊疾病有关。 Rare Genetic Hepatic Disease

疾病英文名：Rare Genetic Hepatic Disease 疾病分类：罕见病 肝脏类疾病 其他别名： 疾病简介：罕见遗传性肝病与高胆红素血症、新生儿暂时性家族性黄疸和胆囊…

罕见病
2023-11-10 732
肝纤维肌纤维母细胞炎性假瘤与肝炎性假瘤有关。附属组织包括肝脏。 Fibrohistiocytic Inflammatory Pseudotumor of the Liver

肝纤维肌纤维母细胞炎性假瘤与肝炎性假瘤有关。附属组织包括肝脏。 Fibrohistiocytic Inflammatory Pseudotumor of the Liver

疾病英文名：Fibrohistiocytic Inflammatory Pseudotumor of the Liver 疾病分类：罕见病 肝脏类疾病 其他别名： 疾病简介：肝纤维…

罕见病
2023-11-10 894
丙酮酸激酶缺乏症（肝型）关联组织包括肝脏。 Pyruvate Kinase Deficiency, Liver Type

丙酮酸激酶缺乏症（肝型）关联组织包括肝脏。 Pyruvate Kinase Deficiency, Liver Type

疾病英文名：Pyruvate Kinase Deficiency, Liver Type 疾病分类：罕见病 肝脏类疾病 其他别名： 疾病简介：丙酮酸激酶缺乏症（肝型）关联组织包括肝…

罕见病
2023-11-10 663
Pepck 1 Deficiency, also known as phosphoenolpyruvate carboxykinase deficiency, is related to hypoglycemia and lactic acidosis, and has symptoms including cyanosis and seizures. An important gene associated with Pepck 1 Deficiency is PCK1 (Phosphoenolpyruvate Carboxykinase 1), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Glycosaminoglycan metabolism. Affiliated tissues include liver, and related phenotype is Negative genetic interaction between PTTG1-/- and PTTG1+/+. Pepck 1 Deficiency

Pepck 1 Deficiency, also known as phosphoenolpyruvate carboxykinase deficiency, is related to hypoglycemia and lactic acidosis, and has symptoms including cyanosis and seizures. An important gene associated with Pepck 1 Deficiency is PCK1 (Phosphoenolpyruvate Carboxykinase 1), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Glycosaminoglycan metabolism. Affiliated tissues include liver, and related phenotype is Negative genetic interaction between PTTG1-/- and PTTG1+/+. Pepck 1 Deficiency

疾病英文名：Pepck 1 Deficiency 疾病分类：罕见病 肝脏类疾病 神经精神疾病 其他别名：Phosphoenolpyruvate Carboxykinase Defi…

常染色体隐性遗传 | 线粒体遗传
2023-11-10 500
肝吸虫病，也称为肝片吸虫感染，与胆汁淤积和胆管炎有关。与肝吸虫病相关的重要基因是ALB（白蛋白），其相关通路/超级通路包括代谢和CF气道中的细菌感染。在该疾病的背景下，已提到的药物有三氯苯达唑和抗寄生虫药物。附属组织包括肝脏和淋巴结，相关表型为稳态/代谢和生长/大小/身体部位 Fascioliasis

肝吸虫病，也称为肝片吸虫感染，与胆汁淤积和胆管炎有关。与肝吸虫病相关的重要基因是ALB（白蛋白），其相关通路/超级通路包括代谢和CF气道中的细菌感染。在该疾病的背景下，已提到的药物有三氯苯达唑和抗寄生虫药物。附属组织包括肝脏和淋巴结，相关表型为稳态/代谢和生长/大小/身体部位 Fascioliasis

疾病英文名：Fascioliasis 疾病分类：罕见病 感染性疾病 肝脏类疾病 其他别名：Fasciola Hepatica Infection Sheep Liver Fluke…

感染性疾病
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