 Albinism
"Albinism" 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.
General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair.
| Descriptor ID |
D000417
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| MeSH Number(s) |
C11.270.040 C16.320.290.040 C16.320.565.100.102 C16.320.850.080 C17.800.621.440.102 C17.800.827.080 C18.452.648.100.102
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| Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Albinism".
- Diseases [C]
- Eye Diseases [C11]
- Eye Diseases, Hereditary [C11.270]
- Albinism [C11.270.040]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Eye Diseases, Hereditary [C16.320.290]
- Albinism [C16.320.290.040]
- Metabolism, Inborn Errors [C16.320.565]
- Amino Acid Metabolism, Inborn Errors [C16.320.565.100]
- Albinism [C16.320.565.100.102]
- Skin Diseases, Genetic [C16.320.850]
- Albinism [C16.320.850.080]
- 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]
- Skin Diseases, Genetic [C17.800.827]
- Albinism [C17.800.827.080]
- 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]
Below are MeSH descriptors whose meaning is more specific than "Albinism".
This graph shows the total number of publications written about "Albinism" by people in this website by year, and whether "Albinism" 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 |
|---|
| 2019 | 1 | 0 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Albinism" by people in Profiles.
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Nicoli ER, Weston MR, Hackbarth M, Becerril A, Larson A, Zein WM, Baker PR, Burke JD, Dorward H, Davids M, Huang Y, Adams DR, Zerfas PM, Chen D, Markello TC, Toro C, Wood T, Elliott G, Vu M, Zheng W, Garrett LJ, Tifft CJ, Gahl WA, Day-Salvatore DL, Mindell JA, Malicdan MCV. Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification. Am J Hum Genet. 2019 06 06; 104(6):1127-1138.
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Netter P, Chan SK, Banerjee PP, Monaco-Shawver L, Noroski LM, Hanson IC, Forbes LR, Mace EM, Chinen J, Gaspar HB, Sleiman P, Hakonarson H, Klein C, Ehlayel MS, Orange JS. A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism. J Allergy Clin Immunol. 2016 08; 138(2):599-601.e3.
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Osanai K, Oikawa R, Higuchi J, Kobayashi M, Tsuchihara K, Iguchi M, Jongsu H, Toga H, Voelker DR. A mutation in Rab38 small GTPase causes abnormal lung surfactant homeostasis and aberrant alveolar structure in mice. Am J Pathol. 2008 Nov; 173(5):1265-74.
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Ito S, Suzuki T, Inagaki K, Suzuki N, Takamori K, Yamada T, Nakazawa M, Hatano M, Takiwaki H, Kakuta Y, Spritz RA, Tomita Y. High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein. J Invest Dermatol. 2005 Oct; 125(4):715-20.
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Sturm RA, Box NF, Ramsay M. Human pigmentation genetics: the difference is only skin deep. Bioessays. 1998 Sep; 20(9):712-21.
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Lee ST, Nicholls RD, Bundey S, Laxova R, Musarella M, Spritz RA. Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. N Engl J Med. 1994 Feb 24; 330(8):529-34.
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Spritz RA, Hearing VJ. Genetic disorders of pigmentation. Adv Hum Genet. 1994; 22:1-45.
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Spritz RA, Strunk KM, Giebel LB, King RA. Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism. N Engl J Med. 1990 Jun 14; 322(24):1724-8.
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Giebel LB, Strunk KM, King RA, Hanifin JM, Spritz RA. A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism. Proc Natl Acad Sci U S A. 1990 May; 87(9):3255-8.
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Niswander L, Yee D, Rinchik EM, Russell LB, Magnuson T. The albino deletion complex and early postimplantation survival in the mouse. Development. 1988 Jan; 102(1):45-53.
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