Anemia, Congenital Dyserythropoietic, Type Ii (CDAN2)

Alias:

Congenital Dyserythropoietic Anemia Type Ii

Cda Ii

Hereditary Erythroblastic Multinuclearity with a Positive Acidified-Serum Test

Congenital Dyserythropoietic Anemia, Type Ii

Congenital Dyserythropoietic Anemia Type 2

Cda Type Ii

Cda Type 2

Sec23b-Cdg

Cdan2

Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum Test

Hempas

Anemia, Dyserythropoietic, Congenital, Type Ii

Dyserythropoietic Anemia, Congenital, Type Ii

Anemia, Dyserythropoietic Congenital, Type Ii

Congenital Dyserythropoietic Anaemia Type Ii

Congenital Dyserythropoietic Anaemia Type 2

Dyserythropoietic Anemia, Congenital Type 2

Anemia, Congenital Dyserythropoietic, 2

Dyserythropoietic Anemia, Hempas Type

Dyserythropoietic Anemia Hempas Type

Cda, Type Ii

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

贫血，先天性红系发育异常，类型II，又称先天性红系发育异常II型，与Cowden综合症7和先天性红系发育异常有关，症状包括黄疸。与贫血，先天性红系发育异常，类型II有关的重要基因是SEC23B（SEC23同源物B，COPII包被复合物成分），其相关通路/超级通路包括蛋白质代谢和MHC I介导的抗原处理和呈递。相关组织包括骨髓和肝脏，相关表型包括网织红细胞增多症和脾肿大。

Related ID：

MALACARDS：ANM042

OMIM：224100

MESH：D000742