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Gaucher disease affects an estimated 1 in 50,000 to 1 in 100,000 people in the general population. Persons of Eastern and Central European (Ashkenazi) Jewish heritage are at highest risk for the disease.
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Gaucher disease is an inherited disease, caused by a defective GBA gene. The disease is recessive, meaning that a child has to inherit a defective gene from both the mother and the father in order to have the actual condition.Type 1 affects both c...
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Gaucher disease is inherited in an autosomal recessive pattern. This means that two defective gene copies must be inherited, one from each parent, for the disease to manifest itself.
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The gene is located on chromosome 1. As of 2000, there have been over 100 mutations described in this gene that causes Gaucher disease.
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Gaucher disease is inherited in an autosomal recessive pattern. This means that two defective gene copies must be inherited, one from each parent, for the disease to manifest itself.
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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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