Schimke immunoosseous dysplasia

A hereditary autosomal recessive disorder characterized by growth and skeletal abnormalities, hyperpigmented skin areas, kidney disease, and immune deficiency; arteriosclerosis may also occur in some cases. Mutations in the SMARCAL1 gene have been identified. OMIM: 242900

Also Known As:

Immunoosseous Dysplasia, Schimke Type; Immunoosseous dysplasia Schimke type; Schimke Immuno-Osseous Dysplasia

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Primary Immunodeficiency Diseases: 1189
    - Schimke immunoosseous dysplasia: 45
  - Osteochondrodysplasias: 592
    - Schimke immunoosseous dysplasia: 45
Immune System Diseases: 4321
- Immunologic Deficiency Syndromes: 91
  - Primary Immunodeficiency Diseases: 1189
    - Schimke immunoosseous dysplasia: 45
Cardiovascular Diseases: 91362
- Vascular Diseases: 15138
  - Arterial Occlusive Diseases: 3346
    - Arteriosclerosis: 3850
      - Schimke immunoosseous dysplasia: 45
  - Embolism and Thrombosis: 119
    - Embolism: 7935
      - Pulmonary Embolism: 14457
        Schimke immunoosseous dysplasia: 45
Urogenital Diseases: 126
- Urologic Diseases: 799
  - Kidney Diseases: 12250
    - Nephrosis: 1810
      - Nephrotic Syndrome: 9808
        Schimke immunoosseous dysplasia: 45
- Female Urogenital Diseases and Pregnancy Complications
  - Female Urogenital Diseases
    - Urologic Diseases: 799
      - Kidney Diseases: 12250
        Nephrosis: 1810
        Nephrotic Syndrome: 9808
        Schimke immunoosseous dysplasia: 45
- Male Urogenital Diseases
  - Urologic Diseases: 799
    - Kidney Diseases: 12250
      - Nephrosis: 1810
        Nephrotic Syndrome: 9808
        Schimke immunoosseous dysplasia: 45
Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Osteochondrodysplasias: 592
      - Schimke immunoosseous dysplasia: 45
Respiratory Tract Diseases: 6015
- Lung Diseases: 22246
  - Pulmonary Embolism: 14457
    - Schimke immunoosseous dysplasia: 45

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