Microvillus inclusion disease

A congenital hereditary disorder with autosomal recessive inheritance. It is characterized by intractable watery DIARRHEA during infancy. The early onset form manisfests in the neonatal period and late-onset appears within the first 3 or 4 months of life. Definite diagnosis is made by TRANSMISSION ELECTRON MICROSCOPY, where shortening or absence of apical microvilli with pathognomonic microvillus inclusions in mature ENTEROCYTES and peripheral accumulation of PAS REACTION - positive granules or vesicles in immature ENTEROCYTES is observed. Mutations in the MYO5B gene have been identified. OMIM: 251850

Also Known As:

Congenital Familial Protracted Diarrhea With Enterocyte Brush-Border Abnormalities; Davidson disease; Diarrhea 2, With Microvillus Atrophy; Intractable diarrhea of infancy; Microvillus atrophy, congenital

Digestive System Diseases: 1068
- Gastrointestinal Diseases: 6062
  - Intestinal Diseases: 1640
    - Malabsorption Syndromes: 644
      - Microvillus inclusion disease: 68
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Lysosomal Storage Diseases: 2180
      - Nervous System Lysosomal Storage Diseases
        Mucolipidoses: 801
        Microvillus inclusion disease: 68
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Mucolipidoses: 801
        Microvillus inclusion disease: 68
    - Inborn Errors Carbohydrate Metabolism
      - Mucolipidoses: 801
        Microvillus inclusion disease: 68
  - Malabsorption Syndromes: 644
    - Microvillus inclusion disease: 68
  - Metabolic Brain Diseases: 218
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Mucolipidoses: 801
        Microvillus inclusion disease: 68
Cells
- Cellular Structures
  - Cell Surface Extensions
    - Microvilli
      - Microvillus inclusion disease: 68
Musculoskeletal Diseases: 751
- Bone Diseases: 5970
  - Metabolic Bone Diseases: 6343
    - Mucolipidoses: 801
      - Microvillus inclusion disease: 68
Nervous System Diseases: 14737
- Central Nervous System Diseases: 4371
  - Brain Diseases: 16141
    - Metabolic Brain Diseases: 218
      - Inborn Metabolic Brain Diseases: 2
        Nervous System Lysosomal Storage Diseases
        Mucolipidoses: 801
        Microvillus inclusion disease: 68
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Lysosomal Storage Diseases: 2180
      - Nervous System Lysosomal Storage Diseases
        Mucolipidoses: 801
        Microvillus inclusion disease: 68
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Mucolipidoses: 801
        Microvillus inclusion disease: 68
    - Inborn Errors Carbohydrate Metabolism
      - Mucolipidoses: 801
        Microvillus inclusion disease: 68

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Pieter Roelofs Research Topics

Disease

Drug/Important Bio-Agent (IBA)