罕见病涉及到人体各个系统,其中内分泌代谢性罕见病和遗传性神经系统罕见病居多。代谢性疾病即因代谢问题引起的疾病,包括代谢障碍和代谢旺盛等原因。先天性代谢缺陷的发病种类多,症状也复杂多样,属于单基因遗传病,大多表现为常染色体隐性遗传,极少数情况下存在常染色体显性遗传、X染色体连锁伴性遗传甚至线粒体遗传。先天性代谢缺陷主要是由于编码蛋白质的基因发生突变引起特定酶的结构异常从而失活,阻碍对各类营养素的调控,如氨基酸、维生素、核苷酸和脂肪酸等,因此造成遗传代谢紊乱。代谢紊乱造成的人体营养缺陷使得许多常见的食物变成了患者的负担,甚至会危及其生命,例如,苯丙酮尿症属于一种氨基酸代谢缺陷,患者缺乏能将苯丙氨酸羟化代谢为酪氨酸的酶。
疾病名称 | 基因靶点 | 品系编号 | 品系简称 |
β-酮硫解酶缺乏症(Beta-Ketothiolase Deficiency,BKD) | Acat1 | T009791 | Acat1-KO |
原发性肉碱缺乏症 (Carnitine Deficiency) | Slc22a5 | T004732 | Slc22a5-KO |
先天性高胰岛素性低血糖血症 (Congenital Hyperinsulinemic Hypoglycemia) | ABCC8 | T013993 | Abcc8-KO |
KCNJ11 | T015667,T015246 | KCNJ11-KO,KCNJ11-flox | |
UCP2 | T049615 | Ucp2-KO | |
GLUD1 | T027972,T018611 | GLUD1-KO,GLUD1-flox | |
GCK | T017312 | Gck-KO | |
HADH | T027639 | Hadh-KO | |
半乳糖血症 (Galactosemia) | Galt | T028148 | Galt-KO |
Galk1 | T028147 | Galk1-KO | |
Gale | T028146 | Gale-KO | |
遗传性果糖不耐受症 (Hereditary Fructose Intolerance) | Hfi | T054280 | B6-HFI(AldoB) |
Aldob | T028091,T054280 | Aldob-KO,B6-HFI(AldoB) | |
纯合子家族性高胆固醇血症 (Homozygous Hypercholesterolemia) | Ldlr | T001464 | Ldlr-KO |
Ldlrap1 | T029702 | Ldlrap1-KO | |
先天性胆汁酸合成障碍 (Congenital Bile Acid Synthesis Defect) | Cyp27a1 | T013789 | Cyp27a1-KO |
长链3-羟酰基辅酶A脱氢酶缺乏症 (Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency) | Hadha | T031437,T022077 | Hadha-KO,Hadha-flox |
中链酰基辅酶A脱氢酶缺乏症 (Medium Chain Acyl-CoA Dehydrogenase Deficiency) | Acadm | T031547,T022187 | Acadm-KO,Acadm-flox |
多种酰基辅酶A脱氢酶缺乏症 (Multiple Acyl-CoA Dehydrogenase Deficiency) | Etfa | T011955 | Etfa-KO |
Etfb | T032734 | Etfb-KO | |
Etfdh | T010489 | Etfdh-KO,Etfdh-flox | |
进行性家族性肝内胆汁淤积症 (Progressive Familial Intrahepatic Cholestasis) | Atp8b1 | T029319 | Atp8b1-KO |
Abcb11 | T013731 | Abcb11-KO | |
Abcb4 | T007421 | Abcb4-KO | |
NR1H4 | T009517 | Nr1h4-flox | |
谷固醇血症 (Sitosterolemia) | Abcg5 | T012038 | Abcg5-KO |
Abcg8 | T028548 | Abcg8-KO | |
极长链酰基辅酶A脱氢酶缺乏症(Very Long Chain Acyl-CoA Dehydrogenase Deficiency) | Acadvl | T028535 | Acadvl-KO |