Imerslund-Grasbeck syndrome

An autosomal recessive congenital form of megaloblastic anemia due to vitamin B12 deficiency; proteinuria is also present. The disorder is caused by a defect in the vitamin B12/intrinsic factor receptor (CUBN gene mutation). Mutations in the AMN gene have also been identified. OMIM: 261100

Also Known As:

Enterocyte cobalamin malabsorption; Enterocyte intrinsic factor receptor, defect of; Megaloblastic Anemia 1

Hemic and Lymphatic Diseases: 6
- Hematologic Diseases: 3366
  - Anemia: 38331
    - Macrocytic Anemia: 391
      - Megaloblastic Anemia: 839
        Imerslund-Grasbeck syndrome: 19
Digestive System Diseases: 1042
- Gastrointestinal Diseases: 5874
  - Intestinal Diseases: 1601
    - Malabsorption Syndromes: 639
      - Imerslund-Grasbeck syndrome: 19
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Malabsorption Syndromes: 639
    - Imerslund-Grasbeck syndrome: 19
- Nutrition Disorders: 404
  - Malnutrition: 20403
    - Deficiency Diseases: 514
      - Avitaminosis: 1294
        Vitamin B Deficiency: 65
        Vitamin B 12 Deficiency: 2140
        Imerslund-Grasbeck syndrome: 19
Urogenital Diseases: 126
- Urologic Diseases: 799
  - Urination Disorders: 94
    - Proteinuria: 24183
      - Imerslund-Grasbeck syndrome: 19
- Female Urogenital Diseases and Pregnancy Complications
  - Female Urogenital Diseases
    - Urologic Diseases: 799
      - Urination Disorders: 94
        Proteinuria: 24183
        Imerslund-Grasbeck syndrome: 19
- Male Urogenital Diseases
  - Urologic Diseases: 799
    - Urination Disorders: 94
      - Proteinuria: 24183
        Imerslund-Grasbeck syndrome: 19
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Urological Manifestations: 9
    - Proteinuria: 24183
      - Imerslund-Grasbeck syndrome: 19

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