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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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Megaloblastic Anemia, also known as imerslund-grasbeck syndrome, is related to congenital intrinsic factor deficiency and imerslund-grasbeck syndrome 2. An important gene associated with Megaloblastic Anemia is CUBN (Cubilin), and among its related pathways/superpathways are Metabolism and Diseases of glycosylation. The drugs Hydroxocobalamin and Cyanocobalamin have been mentioned in the context of this disorder. Affiliated tissues include kidney and skin, and related phenotypes are vitamin b12 deficiency and malabsorption of vitamin b12
Related ID:
MESH:D000749
ICD11:623613402

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
1-9/1000000
41
252
12

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

Category
Name
MGI
Related Gene
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Publications
No data available

References Literature

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