Oculocutaneous albinism type 1

A type of oculocutaneous albinism caused by specific mutations in the TYR gene. OMIM: 606933

Also Known As:

Albinism 1; Albinism I; Albinism, Oculocutaneous, Type IA; Oculocutaneous Albinism, Type I; Oculocutaneous Albinism, Tyrosinase-Negative; Oculocutaneous albinism type 1A; Oculocutaneous albinism, tyrosinase negative

Eye Diseases: 3522
- Hereditary Eye Diseases: 18
  - Albinism: 486
    - Oculocutaneous Albinism: 361
      - Oculocutaneous albinism type 1: 47
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Amino Acid Metabolism: 1
      - Albinism: 486
        Oculocutaneous Albinism: 361
        Oculocutaneous albinism type 1: 47
  - Genetic Skin Diseases: 47
    - Albinism: 486
      - Oculocutaneous Albinism: 361
        Oculocutaneous albinism type 1: 47
  - Hereditary Eye Diseases: 18
    - Albinism: 486
      - Oculocutaneous Albinism: 361
        Oculocutaneous albinism type 1: 47
Skin and Connective Tissue Diseases
- Skin Diseases: 13127
  - Pigmentation Disorders: 149
    - Hypopigmentation: 836
      - Albinism: 486
        Oculocutaneous Albinism: 361
        Oculocutaneous albinism type 1: 47
  - Genetic Skin Diseases: 47
    - Albinism: 486
      - Oculocutaneous Albinism: 361
        Oculocutaneous albinism type 1: 47
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Amino Acid Metabolism: 1
      - Albinism: 486
        Oculocutaneous Albinism: 361
        Oculocutaneous albinism type 1: 47

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Disease

Drug/Important Bio-Agent (IBA)