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Brown Oculocutaneous Albinism

PROM mutation in OCA2

Also Known As:

Albinism, Brown Oculocutaneous

Networked: 2 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Eye Diseases: 3522
- Hereditary Eye Diseases: 18
  - Albinism: 486
    - Oculocutaneous Albinism: 361
      - Brown Oculocutaneous Albinism: 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
Skin and Connective Tissue Diseases
- Skin Diseases: 13127
  - Pigmentation Disorders: 149
    - Hypopigmentation: 836
      - Albinism: 486
        Oculocutaneous Albinism: 361
        Brown Oculocutaneous Albinism: 2
  - Genetic Skin Diseases: 47
    - Albinism: 486
      - Oculocutaneous Albinism: 361
        Brown Oculocutaneous Albinism: 2
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Amino Acid Metabolism: 1
      - Albinism: 486
        Oculocutaneous Albinism: 361
        Brown Oculocutaneous Albinism: 2

Related Diseases

1.	Albinism

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Brown Oculocutaneous Albinism:

1.	EnzymesIBA 06/01/1986 - "The enzyme defect responsible for brown oculocutaneous albinism is unknown."
2.	tyrosinase-related protein-1IBA 06/01/1996 - "Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3"."