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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
Networked: 182 relevant articles (2 outcomes, 13 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Breast Neoplasms (Breast Cancer)
2. Oculocutaneous albinism type 2
3. Oculocutaneous Albinism (Albinism, Yellow Mutant)
4. Albinism
5. Melanoma (Melanoma, Malignant)

Experts

1. Sturm, Richard A: 6 articles (02/2010 - 02/2007)
2. Jeffery, William R: 5 articles (01/2018 - 01/2006)
3. Manga, Prashiela: 4 articles (01/2021 - 01/2013)
4. Marks, Michael S: 4 articles (11/2020 - 03/2009)
5. Duffy, David L: 4 articles (02/2010 - 02/2007)
6. Wang, Jing: 3 articles (04/2022 - 04/2016)
7. Bilandžija, Helena: 3 articles (01/2021 - 01/2013)
8. Kowalko, Johanna E: 3 articles (01/2021 - 01/2015)
9. Orlow, Seth J: 3 articles (01/2021 - 03/2006)
10. Suzuki, Tamio: 3 articles (01/2021 - 05/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Oculocutaneous albinism type 2:
1. LuciferasesIBA
2. Estrogen ReceptorsIBA
3. Gentamicins (Gentamicin)FDA LinkGeneric
4. antibiotic G 418IBA
5. Proteins (Proteins, Gene)FDA Link
6. Monophenol Monooxygenase (Tyrosinase)IBA
7. Melanins (Melanin)IBA
8. Type 1 Melanocortin ReceptorIBA
9. Pro-Opiomelanocortin (Proopiomelanocortin)IBA
08/15/2009 - "We evaluated the associations between 15 SNPs in 8 candidate pigmentation genes (TYR, TYRP1, OCA2, SLC24A5, SLC45A2, POMC, ASIP and ATRN) and both pigmentary phenotypes (hair color, skin color and tanning ability) and skin cancer risk in a nested case-control study of Caucasians within the Nurses' Health Study (NHS) among 218 melanoma cases, 285 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases and 870 common controls. "
01/01/2015 - "Serum 25(OH)D and SNPs (n = 960) related to genes with relevance for skin pigmentation (tyrosinase [TYR], TYR-related protein 1 [TYRP1], dopachrome tautomerase [DCT], oculocutaneous albinism II [OCA2], two pore segment channel 2 [TPCN2], solute carrier family 24 A4 [SLC24A4], solute carrier family 45 A2 [SLC45A2], agouti signalling peptide [ASIP], cyclic AMP-dependent transcription factor [ATF1], microphthalmia-associated transcription factor [MITF], proopiomelanocortin [POMC], cAMP-dependent protein kinase catalytic subunit beta [PRKACB], cAMP-dependent protein kinase catalytic subunit gamma [PRKACG], cAMP-dependent protein kinase type I-alpha regulatory subunit [PRKAR1A], cAMP-dependent protein kinase type II-alpha regulatory subunit [PRKAR2A], cAMP-dependent protein kinase type II-beta regulatory subunit [PRKAR2B], tubulin beta-3 chain/melanocortin receptor 1 [TUBB3/MC1R], Cadherin-1 [CDH1], catenin beta 1 [CTNNB1], Endothelin 1 [EDN1], endothelin 3 [EDN3], endothelin receptor type B [EDNRB], fibroblast growth factor 2 [FGF2], KIT, KIT ligand [KITLG], nerve growth factor [NGF], interferon regulatory factor 4 [IRF4], exocyst complex component 2 [EXOC2], and tumor protein 53 [TP53]) were analyzed in a cohort of participants of the Ludwigshafen Risk and Cardiovascular Health Study (n = 2970). "
10. DNA (Deoxyribonucleic Acid)IBA

Therapies and Procedures

1. Adjuvant Chemotherapy
2. Ligation
3. Neoadjuvant Therapy
4. Telescopes
5. Molecular Targeted Therapy