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Hallervorden-Spatz Disease Learning Center
Causes could include:
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PKAN occurs due to mutation in the gene for pantothenate kinase 2 (PANK2), which is an enzyme, a type of protein that regulates a reaction inside a cell. PANK2 helps regulates the production of coenzyme A, an important intermediate in the producti...
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Conditions with a link to the individual's genetic make-up. Genetic disorders are conditions that can be traced to an individual's heredity. Many of these disorders are inherited and are governed by the same genetic rules that determine dimples an...
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Any unusual variation or abnormality in the shape, structure, and/or function of an organ, body part, or tissue is commonly referred to as a birth defect. However, congenital anomaly is the more accurate and preferred term, since birth defect can ...
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Variations within the DNA sequence of a particular gene affect its function, and may cause or predispose an individual a particular disease. Alterations in the genome may increase the frequency of disorder and disease with entire populations. Alth...
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The traditional method used to study an inherited disease is to observe the pattern of its distribution in families through examination of a pedigree, the construction of which begins with the individual first known to have the disease. The pedigr...
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Variations within the DNA sequence of a particular gene affect its function and may cause or predispose an individual a particular disease. Alterations in the genome may increase the frequency of disorder and disease with entire populations. Altho...
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