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The National Gaucher Foundation (United States) states the incidence of Gaucher's disease is about one in 20,000 live births. [39] Around one in 100 people in the general US population is a carrier for type I Gaucher's disease, giving a prevalence of one in 40,000. [ 40 ]
For example, two mutations in the glucocerebrosidase gene each cause Gaucher's disease in Ashkenazim, which is that group's most common genetic disease, but only one of these mutations is found in non-Jewish groups. [5] A few diseases are unique to this group; familial dysautonomia, for example, is almost unknown in other peoples. [5]
Enzyme replacement therapy is available to treat mainly Fabry disease and Gaucher disease, and people with these types of sphingolipidoses may live well into adulthood. The other types are generally fatal by age 1 to 5 years for infantile forms, but progression may be mild for juvenile- or adult-onset forms.
They are generally inherited in an autosomal recessive fashion, but Fabry disease is X-linked. Taken together, sphingolipidoses have an incidence of approximately 1 in 10,000. Enzyme replacement therapy is available mainly to treat Fabry disease and Gaucher disease and people with these types of sphingolipidoses may live well into adulthood ...
Mutations in the glucocerebrosidase gene cause Gaucher's disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides in macrophages that infiltrate many vital organs. [19] [20] Mutations in the glucocerebrosidase gene are also associated with Parkinson's disease. [21] [22]
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
Diabetes: "Gum disease and diabetes have a bidirectional relationship, meaning that gum disease can make it harder to control blood sugar levels, and uncontrolled diabetes can increase the risk of ...
Osteonecrosis is also associated with cancer, lupus, sickle cell disease, [11] HIV infection, Gaucher's disease, and Caisson disease (dysbaric osteonecrosis). [1] [12] Bisphosphonates are associated with osteonecrosis of the mandible (jawbone). [13] The condition may also occur without any clear reason. [1]