Oculocutaneous albinism type 2

An autosomal recessive, tyrosinase positive type of oculocutaneous albinism where MELANIN biosynthesis is reduced in the skin. Infants appear phenotypically similar to OCA1 (OMIM: 203100) but acquire small amounts of pigment with age. Affected individuals also have other similar, though less severe, phenotypes to OCA1. Mutations in the OCA2 gene have been identified. OMIM: 203200

Also Known As:

Albinism 2; Albinism II; Albinism, Oculocutaneous, Type II; Albinism, oculocutaneous, type 2; Albinoidism; OCA2; Oculocutaneous Albinism, Type II; Oculocutaneous Albinism, Tyrosinase-Positive; Oculocutaneous albinism tyrosinase positive; Tyrosinase-positive oculocutaneous albinism

Eye Diseases: 3620
- Hereditary Eye Diseases: 19
  - Albinism: 494
    - Oculocutaneous Albinism: 368
      - Oculocutaneous albinism type 2: 187
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Amino Acid Metabolism: 1
      - Albinism: 494
        Oculocutaneous Albinism: 368
        Oculocutaneous albinism type 2: 187
  - Genetic Skin Diseases: 51
    - Albinism: 494
      - Oculocutaneous Albinism: 368
        Oculocutaneous albinism type 2: 187
  - Hereditary Eye Diseases: 19
    - Albinism: 494
      - Oculocutaneous Albinism: 368
        Oculocutaneous albinism type 2: 187
Skin and Connective Tissue Diseases
- Skin Diseases: 13402
  - Pigmentation Disorders: 152
    - Hypopigmentation: 847
      - Albinism: 494
        Oculocutaneous Albinism: 368
        Oculocutaneous albinism type 2: 187
  - Genetic Skin Diseases: 51
    - Albinism: 494
      - Oculocutaneous Albinism: 368
        Oculocutaneous albinism type 2: 187
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Amino Acid Metabolism: 1
      - Albinism: 494
        Oculocutaneous Albinism: 368
        Oculocutaneous albinism type 2: 187

Johanna Maria de Gruijter Selected Research

Johanna Maria de Gruijter Research Topics

Disease

Drug/Important Bio-Agent (IBA)