Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0022716 (Menkes)
 1,057 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This review highlights recent advances in the localization of genes responsible for selected inherited disorders of hypopigmentation including Piebaldism, Waardenburg's syndrome, Menkes' disease, as well as oculocutaneous and ocular albinism. Human and mouse homologous sequences, linkage analysis, and cytogenetic studies of affected individuals are powerful tools to identify these loci.
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PMID:Advances in inherited disorders of hypopigmentation: comparisons of mice and men. 837 74

Oculocutaneous albinism, Menkes syndrome, tuberous sclerosis, neurofibromatosis type 1, dyskeratosis congenita, lentiginosis profusa syndrome, incontinentia pigmenti, and Waardenburg syndrome all are genodermatoses that have well established gene mutations affecting multiple biological pathways, including melanin synthesis, copper transport, cellular proliferation, telomerase function, apoptosis, and melanocyte biology. Onchocerciasis results from a systemic inflammatory response to a nematode infection. Hypomelanosis of Ito is caused by chromosomal mosaicism, which underlies its phenotypic heterogeneity. Incomplete migration of melanocytes to the epidermis and other organs is the underlying feature of nevus of Ota. Vogt-Koyangi-Harada and vitiligo have an autoimmune etiology; the former is associated with considerable multiorgan involvement, while the latter is predominantly skin-limited.
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PMID:Pigmentary disorders of the eyes and skin. 2570 35