Rufous oculocutaneous albinism

OCA3 not included

Also Known As:

Albinism 3; Albinism III; Albinism, Oculocutaneous, Type III; Albinism, oculocutaneous, type 3; Oculocutaneous Albinism, Type III; Oculocutaneous albinism type 3; Rufous OCA; Xanthism

Networked: 6 relevant articles (1 outcomes, 0 trials/studies)

Relationship Network

Disease Context: Research Results

Eye Diseases: 3522
- Hereditary Eye Diseases: 18
  - Albinism: 486
    - Oculocutaneous Albinism: 361
      - Rufous oculocutaneous albinism: 6
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
        Rufous oculocutaneous albinism: 6
  - Genetic Skin Diseases: 47
    - Albinism: 486
      - Oculocutaneous Albinism: 361
        Rufous oculocutaneous albinism: 6
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Amino Acid Metabolism: 1
      - Albinism: 486
        Oculocutaneous Albinism: 361
        Rufous oculocutaneous albinism: 6

Related Diseases

1.	Rare Diseases (Rare Disease)
2.	Glaucoma

Experts

1.	Abu-Asab, Mones S: 1 article (10/2018)
2.	Adams, David R: 1 article (10/2018)
3.	Aderemi, Joseph O: 1 article (10/2018)
4.	Albert, Jessica S: 1 article (10/2018)
5.	Alur, Ramakrishna P: 1 article (10/2018)
6.	Bernardini, Isa M: 1 article (10/2018)
7.	Brooks, Brian P: 1 article (10/2018)
8.	Chan, Chi-Chao: 1 article (10/2018)
9.	Cogliati, Tiziana: 1 article (10/2018)
10.	Megan, Lucyanne H: 1 article (10/2018)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Rufous oculocutaneous albinism:

1.	nitisinone (Orfadin)FDA Link 10/01/2018 - "Minimal Efficacy of Nitisinone Treatment in a Novel Mouse Model of Oculocutaneous Albinism, Type 3."
2.	Melanins (Melanin)IBA 01/01/2013 - "Oculocutaneous albinism type III (OCA3), caused by mutations of TYRP1 gene, is an autosomal recessive disorder characterized by reduced biosynthesis of melanin pigment in the hair, skin, and eyes. " 02/27/2004 - "The expression of TYRP1, which facilitates TYR processing in the ER, is down-regulated in the amelanotic cells; this is analogous to a hypopigmentary disease known as oculocutaneous albinism type 3 and further impairs melanin production. " 01/01/2023 - "Mutations to the TYRP1 gene can result in oculocutaneous albinism type 3 (OCA3), a rare disease characterized by reduced synthesis of melanin in skin, hair, and eyes. " 07/01/1990 - "The contents of eumelanin and pheomelanin in the scalp hairs of 4 Japanese patients with total albinism (3 tyrosinase-positive and one negative) and 100 healthy Japanese were measured by the melanin microquantitation method of Ito and Fujita. "
3.	Monophenol Monooxygenase (Tyrosinase)IBA 01/01/2011 - "To use a systems genetics approach to construct and analyze co-expression networks that are causally linked to mutations in a key pigementation gene, tyrosinase-related protein 1 (Tyrp1), that is associated both with oculocutaneous albinism type 3 (OCA3) in humans and with glaucoma in mice. " 07/01/1990 - "The contents of eumelanin and pheomelanin in the scalp hairs of 4 Japanese patients with total albinism (3 tyrosinase-positive and one negative) and 100 healthy Japanese were measured by the melanin microquantitation method of Ito and Fujita. "
4.	Proteins (Proteins, Gene)FDA Link 01/01/2011 - "To use a systems genetics approach to construct and analyze co-expression networks that are causally linked to mutations in a key pigementation gene, tyrosinase-related protein 1 (Tyrp1), that is associated both with oculocutaneous albinism type 3 (OCA3) in humans and with glaucoma in mice. "
5.	eumelaninIBA 07/01/1990 - "The contents of eumelanin and pheomelanin in the scalp hairs of 4 Japanese patients with total albinism (3 tyrosinase-positive and one negative) and 100 healthy Japanese were measured by the melanin microquantitation method of Ito and Fujita. "
6.	pheomelaninIBA 07/01/1990 - "The contents of eumelanin and pheomelanin in the scalp hairs of 4 Japanese patients with total albinism (3 tyrosinase-positive and one negative) and 100 healthy Japanese were measured by the melanin microquantitation method of Ito and Fujita. "