Megaloblastic Anemia (IGS)

Alias:

Imerslund-Grasbeck Syndrome

Selective Cobalamin Malabsorption with Proteinuria

Familial Megaloblastic Anemia

Imerslund-Gräsbeck Syndrome

Anemia, Megaloblastic

Juvenile Pernicious Anemia with Proteinuria Due to Selective Intestinal Malabsorption of Vitamin B12

Megaloblastic Anemia Due to Inborn Errors of Metabolism

Defect of Enterocyte Intrinsic Factor Receptor

Recessive Hereditary Megaloblastic Anaemia 1

Recessive Hereditary Megaloblastic Anemia 1

Enterocyte Cobalamin Malabsorption

Grasbeck-Imerslund Syndrome

Megaloblastic Anemia 1

Megaloblastic Anaemia

Anemia Megaloblastic

Mga1 Norwegian Type

Rh-Mga1

Igs

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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

巨幼细胞性贫血，也称为伊默尔松-格拉斯贝克综合症，与先天性内因子缺乏和伊默尔松-格拉斯贝克综合症2有关。与巨幼细胞性贫血有关的重要基因是CUBN（Cubilin），其相关通路/超级通路包括代谢和糖基化疾病。在该疾病的背景下提到了氢化钴胺素和氰钴胺素。附属组织包括肾脏和皮肤，相关表型为维生素B12缺乏和维生素B12吸收不良。

Related ID：

MALACARDS：MGL001

MESH：D000749

ICD11：623613402