Imerslund-Grasbeck Syndrome 1 (IGS1)

Imerslund-Grasbeck Syndrome 1(来自ICD-11)

别称:

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

Megaloblastic Anemia, Finnish Type

Enterocyte Cobalamin Malabsorption

Imerslund-Grasbeck Syndrome Type 1

Mga1

Igs1

Enterocyte Intrinsic Factor Receptor, Defect of

Defect of Enterocyte Intrinsic Factor Receptor

Immerslund-Grasbeck Syndrome

Imerslund-Grasbeck Syndrome

Megaloblastic Anemia, 1

Megaloblastic Anemia 1

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Imerslund-Grasbeck Syndrome 1, also known as pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria, is related to imerslund-grasbeck syndrome 2 and vitamin b12 deficiency. An important gene associated with Imerslund-Grasbeck Syndrome 1 is CUBN (Cubilin), and among its related pathways/superpathways are Plasma lipoprotein assembly, remodeling, and clearance and Cobalamin (Cbl, vitamin B12) transport and metabolism. Affiliated tissues include kidney and skin, and related phenotypes are proteinuria and megaloblastic anemia

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