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Haemochromatosis is protean in its manifestations, i.e., often presenting with signs or symptoms suggestive of other diagnoses that affect specific organ systems.Many of the signs and symptoms below are uncommon, and most patients with the hereditary form of haemochromatosis do not show any overt signs of disease nor do they have premature morbidity, if they are diagnosed early, but, more ...
Symptoms vary greatly between individuals with type 4 hemochromatosis. This difference in symptoms is likely due to the different types of SLC40A1 mutations patients may have. [3] In general, signs and symptoms of type 4 hemochromatosis are caused by excess iron in cells, which leads to tissue damage.
Familial adenomatous polyposis can have different inheritance patterns and different genetic causes. When this condition results from mutations in the APC gene , it is inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder.
Hereditary cancer syndromes underlie 5 to 10% of all cancers and there are over 50 identifiable hereditary forms of cancer. [5] Scientific understanding of cancer susceptibility syndromes is actively expanding: additional syndromes are being found, [6] the underlying biology is becoming clearer, and genetic testing is improving detection, treatment, and prevention of cancer syndromes. [7]
A cancer syndrome or family cancer syndrome is a genetic disorder in which inherited genetic mutations in one or more genes predisposes the affected individuals to the development of cancers and may also cause the early onset of these cancers. Although cancer syndromes exhibit an increased risk of cancer, the risk varies.
Patients typically present in early childhood with cerebellar hypoplasia, immunodeficiency, progressive bone marrow failure, and intrauterine growth restriction. [2] The primary cause of death in Hoyeraal–Hreidasson syndrome is bone marrow failure, but mortality from cancer and pulmonary fibrosis is also significant. [4] [5] [6]
The cancer predisposition is characterized by 1) broad spectrum, including leukemias, lymphomas, and carcinomas, 2) early age of onset relative to the same cancer in the general population, and 3) multiplicity, that is, synchronous or metachronous cancers. There is at least one person with Bloom syndrome who had five independent primary cancers.
This is a syndrome that predisposes people to cancer and increases the risk of developing cancer in many different tissues, but particularly in the endometrium, thyroid, and breast. It is inherited autosomally dominantly, with a germ-line mutation of the PTEN tumor suppressor gene present in about 80% of patients.