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Oculocutaneous albinism type 1B

Also Known As:

Albinism, Oculocutaneous, Type Ib; Albinism, yellow mutant type; Oculocutaneous Albinism, Type Ib; Yellow albinism

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
      - Oculocutaneous albinism type 1B: 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
        Oculocutaneous albinism type 1B: 2
  - Genetic Skin Diseases: 47
    - Albinism: 486
      - Oculocutaneous Albinism: 361
        Oculocutaneous albinism type 1B: 2
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 1B: 2

Experts

1.	Baple, Emma L: 1 article (01/2022)
2.	Baralle, Diana: 1 article (01/2022)
3.	Callaway, Jonathan: 1 article (01/2022)
4.	Crosby, Andrew H: 1 article (01/2022)
5.	Cross, Harold E: 1 article (01/2022)
6.	Deline, James: 1 article (01/2022)
7.	Ennis, Sarah: 1 article (01/2022)
8.	Hammond, Sheri: 1 article (01/2022)
9.	Harlalka, Gaurav V: 1 article (01/2022)
10.	Lee, Helena: 1 article (01/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Oculocutaneous albinism type 1B:

1.	Monophenol Monooxygenase (Tyrosinase)IBA 01/13/2022 - "Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B)." 01/01/2021 - "Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing."