 Albinism, Oculocutaneous
"Albinism, Oculocutaneous" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all having in common varying degrees of hypopigmentation of the skin, hair, and eyes. The two most common are the tyrosinase-positive and tyrosinase-negative types.
| Descriptor ID |
D016115
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| MeSH Number(s) |
C11.270.040.545 C16.320.290.040.100 C16.320.565.100.102.100 C16.320.850.080.100 C17.800.621.440.102.100 C17.800.827.080.100 C18.452.648.100.102.100
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| Concept/Terms |
Albinism, Yellow-Mutant- Albinism, Yellow-Mutant
- Albinism, Yellow Mutant
- Yellow-Mutant Albinism
- Yellow Mutant Albinism
- Mutant Albinism, Yellow
- Mutant Albinisms, Yellow
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Below are MeSH descriptors whose meaning is more general than "Albinism, Oculocutaneous".
- Diseases [C]
- Eye Diseases [C11]
- Eye Diseases, Hereditary [C11.270]
- Albinism [C11.270.040]
- Albinism, Oculocutaneous [C11.270.040.545]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Eye Diseases, Hereditary [C16.320.290]
- Albinism [C16.320.290.040]
- Albinism, Oculocutaneous [C16.320.290.040.100]
- Metabolism, Inborn Errors [C16.320.565]
- Amino Acid Metabolism, Inborn Errors [C16.320.565.100]
- Albinism [C16.320.565.100.102]
- Albinism, Oculocutaneous [C16.320.565.100.102.100]
- Skin Diseases, Genetic [C16.320.850]
- Albinism [C16.320.850.080]
- Albinism, Oculocutaneous [C16.320.850.080.100]
- Skin and Connective Tissue Diseases [C17]
- Skin Diseases [C17.800]
- Pigmentation Disorders [C17.800.621]
- Hypopigmentation [C17.800.621.440]
- Albinism [C17.800.621.440.102]
- Albinism, Oculocutaneous [C17.800.621.440.102.100]
- Skin Diseases, Genetic [C17.800.827]
- Albinism [C17.800.827.080]
- Albinism, Oculocutaneous [C17.800.827.080.100]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Metabolism, Inborn Errors [C18.452.648]
- Amino Acid Metabolism, Inborn Errors [C18.452.648.100]
- Albinism [C18.452.648.100.102]
- Albinism, Oculocutaneous [C18.452.648.100.102.100]
Below are MeSH descriptors whose meaning is more specific than "Albinism, Oculocutaneous".
This graph shows the total number of publications written about "Albinism, Oculocutaneous" by people in this website by year, and whether "Albinism, Oculocutaneous" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2005 | 1 | 0 | 1 | | 2014 | 1 | 0 | 1 | | 2017 | 1 | 0 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Albinism, Oculocutaneous" by people in Profiles.
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Shahzad M, Yousaf S, Waryah YM, Gul H, Kausar T, Tariq N, Mahmood U, Ali M, Khan MA, Waryah AM, Shaikh RS, Riazuddin S, Ahmed ZM. Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population. Sci Rep. 2017 03 07; 7:44185.
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Bar?n AE, Asdigian NL, Gonzalez V, Aalborg J, Terzian T, Stiegmann RA, Torchia EC, Berwick M, Dellavalle RP, Morelli JG, Mokrohisky ST, Crane LA, Box NF. Interactions between ultraviolet light and MC1R and OCA2 variants are determinants of childhood nevus and freckle phenotypes. Cancer Epidemiol Biomarkers Prev. 2014 Dec; 23(12):2829-39.
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Hutton SM, Spritz RA. Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. J Invest Dermatol. 2008 Oct; 128(10):2442-50.
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Osanai K, Voelker DR. Analysis and expression of Rab38 in oculocutaneous lung disease. Methods Enzymol. 2008; 438:203-15.
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Santiago Borrero PJ, Rodr?guez-P?rez Y, Renta JY, Izquierdo NJ, Del Fierro L, Mu?oz D, Molina NL, Ram?rez S, Pag?n-Mercado G, Ort?z I, Rivera-Caragol E, Spritz RA, Cadilla CL. Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. J Invest Dermatol. 2006 Jan; 126(1):85-90.
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Wolf AB, Rubin SE, Kodsi SR. Comparison of clinical findings in pediatric patients with albinism and different amplitudes of nystagmus. J AAPOS. 2005 Aug; 9(4):363-8.
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Toyofuku K, Wada I, Spritz RA, Hearing VJ. The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation. Biochem J. 2001 Apr 15; 355(Pt 2):259-69.
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Oh J, Liu ZX, Feng GH, Raposo G, Spritz RA. The Hermansky-Pudlak syndrome (HPS) protein is part of a high molecular weight complex involved in biogenesis of early melanosomes. Hum Mol Genet. 2000 Feb 12; 9(3):375-85.
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Spritz RA. Hermansky-Pudlak syndrome and pale ear: melanosome-making for the millennium. Pigment Cell Res. 2000 Feb; 13(1):15-20.
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Spritz RA, Oh J. HPS gene mutations in Hermansky-Pudlak syndrome. Am J Hum Genet. 1999 Feb; 64(2):658.
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