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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
Networked: 47 relevant articles (0 outcomes, 4 trials/studies)

Disease Context: Research Results

Related Diseases

1. Albinism
2. Inborn Genetic Diseases (Disease, Hereditary)
3. Hypopigmentation (Hypomelanosis)
4. Ocular Albinism
5. Oculocutaneous Albinism (Albinism, Yellow Mutant)

Experts

1. Dolinska, Monika B: 6 articles (07/2021 - 10/2011)
2. Sergeev, Yuri V: 6 articles (07/2021 - 10/2011)
3. Suzuki, Tamio: 3 articles (01/2019 - 08/2005)
4. Chaki, Moumita: 3 articles (01/2011 - 07/2005)
5. Ray, Kunal: 3 articles (01/2011 - 07/2005)
6. Fryer, James P: 3 articles (03/2009 - 06/2003)
7. King, Richard A: 3 articles (03/2009 - 06/2003)
8. Oetting, William S: 3 articles (03/2009 - 06/2003)
9. Kono, Michihiro: 3 articles (09/2005 - 02/2002)
10. Miyamura, Yoshinori: 3 articles (09/2005 - 02/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Oculocutaneous albinism type 1:
1. Monophenol Monooxygenase (Tyrosinase)IBA
2. Melanins (Melanin)IBA
3. EnzymesIBA
4. Nonsense Codon (Nonsense Mutation)IBA
5. Retinaldehyde (Retinal)IBA
6. Proteins (Proteins, Gene)FDA Link
7. Polysaccharides (Glycans)IBA
8. AsparagineIBA
9. Amino AcidsFDA Link
10. Cell-Free Nucleic AcidsIBA

Therapies and Procedures

1. Therapeutics