Griscelli syndrome type 2

A hereditary autosomal recessive disorder characterized by immune deficiency, hypopigmentation of the skin and hair, and hemophagocytic lymphohistiocytosis resulting in multiple organ failure. Mutations in the RAB27A gene have been identified. OMIM: 607624

Also Known As:

Albinism, partial with immunodeficiency; Griscelli Syndrome, Type 2; Griscelli syndrome with hemophagocytic syndrome; Partial Albinism And Immunodeficiency Syndrome; Partial albinism and immunodeficiency

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Primary Immunodeficiency Diseases: 1211
    - Griscelli syndrome type 2: 15
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Amino Acid Metabolism: 1
      - Albinism: 494
        Piebaldism: 76
        Griscelli syndrome type 2: 15
  - Genetic Skin Diseases: 51
    - Albinism: 494
      - Piebaldism: 76
        Griscelli syndrome type 2: 15
  - Hereditary Eye Diseases: 19
    - Albinism: 494
      - Piebaldism: 76
        Griscelli syndrome type 2: 15
Immune System Diseases: 4430
- Immunologic Deficiency Syndromes: 91
  - Primary Immunodeficiency Diseases: 1211
    - Griscelli syndrome type 2: 15
Skin and Connective Tissue Diseases
- Skin Diseases: 13402
  - Pigmentation Disorders: 152
    - Hypopigmentation: 847
      - Albinism: 494
        Piebaldism: 76
        Griscelli syndrome type 2: 15
  - Genetic Skin Diseases: 51
    - Albinism: 494
      - Piebaldism: 76
        Griscelli syndrome type 2: 15
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Amino Acid Metabolism: 1
      - Albinism: 494
        Piebaldism: 76
        Griscelli syndrome type 2: 15
Hemic and Lymphatic Diseases: 7
- Lymphatic Diseases: 96
  - Histiocytosis: 536
    - Non-Langerhans-Cell Histiocytosis: 89
      - Hemophagocytic Lymphohistiocytosis: 1987
        Griscelli syndrome type 2: 15

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Susan Hashemi Research Topics

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