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Hallervorden-Spatz usually begins in childhood. Most cases of Hallervorden-Spatz are due to a defect in a gene that makes a protein called pantothenate kinase 2.
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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 productio...
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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 and...
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Detailed information on the different types of genetic diseases that can affect a pregnancy
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Detailed information on the most common congenital and hereditary disorders in children
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A Harvard Medical School physician answers your question about the hereditary elements of addiction.
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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.Altho...
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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.Althou...
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