Imerslund-Grasbeck Syndrome 1 (IGS1)

Alias:

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

Related ID：

MALACARDS：IMR002

OMIM：261100

MESH：D000749