Chediak-Higashi Syndrome

A form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections. In many cell types, abnormal lysosomes are present leading to defective pigment distribution and abnormal neutrophil functions. The disease is transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the Aleutian mink, and albino Hereford cattle.

Also Known As:

Chediak-Steinbrinck-Higashi Syndrome; Oculocutaneous Albinism with Leukocyte Defect; Chediak Higashi Syndrome; Chediak Steinbrinck Higashi Syndrome; Chediak-Steinbrinck-Higashi Syndromes

Eye Diseases: 3620
- Hereditary Eye Diseases: 19
  - Albinism: 494
    - Chediak-Higashi Syndrome: 218
Hemic and Lymphatic Diseases: 7
- Hematologic Diseases: 3445
  - Leukocyte Disorders: 8
    - Phagocyte Bactericidal Dysfunction
      - Chediak-Higashi Syndrome: 218
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Primary Immunodeficiency Diseases: 1211
    - Chediak-Higashi Syndrome: 218
Immune System Diseases: 4430
- Immunologic Deficiency Syndromes: 91
  - Primary Immunodeficiency Diseases: 1211
    - Chediak-Higashi Syndrome: 218
  - Phagocyte Bactericidal Dysfunction
    - Chediak-Higashi Syndrome: 218

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