Crigler-Najjar Syndrome, Type I (CN1)

Alias:

Crigler-Najjar Syndrome

Crigler-Najjar Syndrome Type 1

Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Type 1

Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency

Bilirubin Udp Glucuronyl Transferase Deficiency

Bilirubin-Ugt Deficiency Type 1

Bilirubin-Ugt Deficiency

Crigler Najjar Syndrome

Familial Nonhemolytic Unconjugated Hyperbilirubinemia

Bilirubin Glucuronosyltransferase Deficiency

Hereditary Unconjugated Hyperbilirubinaemia

Hereditary Unconjugated Hyperbilirubinemia

Hyperbilirubinemia, Crigler-Najjar Type I

Congenital Familial Nonhemolytic Jaundice

Deficiency of Glucuronosyltransferase

Udp Glucuronyl Transferase Deficiency

Crigler-Najjar Disease or Syndrome

Glucuronyl Transferase Deficiency

Glucuronyltransferase Deficiency

Crigler Najjar Syndrome, Type 1

Cns - [crigler-Najjar Syndrome]

Crigler-Najjar Syndrome Type I

Crigler-Najjar Syndrome 1

Ugt Deficiency

Hblrcn1

Cn-I

Cn1

Favorite

基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

Crigler-Najjar Syndrome, Type I（也称为Crigler-Najjar综合症，类型II和扩张性心肌病，伴有高促性腺激素性性腺功能减退症）与Crigler-Najjar综合症，类型II和扩张性心肌病，伴有高促性腺激素性性腺功能减退症有关。与Crigler-Najjar Syndrome, Type I相关的基因是UGT1A1（UDP葡萄糖醛酸转移酶家族1成员A1），其相关通路/超通路包括代谢和核受体元通路。在该疾病的背景下，已提到过过氧化脲和肝提取物。相关组织包括肝脏和大脑，相关表型为肝脏异常和黄疸。

Related ID：

MALACARDS：CRG003

OMIM：218800

MESH：D003414

ICD11：291439191