APC (gene)
APC (gene): A major gene that is involved in causing colorectal cancer. APC is involved in both sporadic and familial forms of colorectal cancer. A mutation in the APC gene is the earliest detectable molecular abnormality in colorectal cancer. This mutation imitates the neoplastic process 20 to 30 years before the malignancy itself is full-blown. APC is a relatively large gene on chromosome 5 in region 5q21-q22. Although a number of different mutations have been identified in the APC gene, most (about 80%) of them cluster in one area of the gene, interrupt its transcription, and truncate (cut off) the transcript. APC stands for adenomatous polyposis coli.
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APECED (autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy): A genetic autoimmune disease with an extraordinary array of clinical features but characterized most often by at least 2 of the following 3 findings: hypoparathyroidism — underfunction of the parathyroid glands which control calcium, candidiasis (yeast infection), and adrenal insufficiency (underfunction of the adrenal gland). APECED was the first systemic (bodywide) […]
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Apert syndrome: A malformation syndrome characterized by a high short skull, underdevelopment of the midface, soft tissue and bony (“mitten glove”) fusion of fingers and toes, fusion of the neck vertebrae, and varying degrees of developmental delay/mental retardation. The frequency of the syndrome rises with the age of the father reflecting the fact that the […]
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Apert syndrome acrocephalosyndactyly: An inherited disorder causing abnormalities of the skull, face and hands and feet. There is premature closure of some of the sutures of the skull (craniosynostosis) resulting in an abnormally shaped head (which is unusually tall but short from front-to-back) and an abnormally shaped face (with shallow eye sockets and underdevelopment of […]