Von Hippel-Lindau disease

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  Fragile X syndrome

  Fragile X syndrome, or Martin-Bell syndrome, is a genetic syndrome which results in a spectrum of characteristic physical, intellectual, emotional and behavioural features which range from severe to mild in manifestation. The syndrome is associated with the expansion of a single trinucleotide gene...
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  Alpha 1-antitrypsin deficiency

  Alpha 1-antitrypsin deficiency (α1-antitrypsin deficiency, A1AD or simply Alpha-1) is a genetic disorder caused by defective production of alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. There...
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  Osteogenesis imperfecta

  Osteogenesis imperfecta (OI and sometimes known as Brittle Bone Disease, or "Lobstein syndrome") is a genetic bone disorder. People with OI are born with defective connective tissue, or without the ability to make it, usually because of a deficiency of Type-I collagen. This deficiency arises from...
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  Turner syndrome

  Turner syndrome or Ullrich-Turner syndrome (also known as "Gonadal dysgenesis") encompasses several conditions, of which monosomy X (absence of an entire sex chromosome) is most common. It is a chromosomal disorder in which all or part of one of the sex chromosomes is absent (unaffected humans have...
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  Marfan syndrome

  Marfan syndrome (also called Marfan's syndrome) is a genetic disorder of the connective tissue. It is sometimes inherited as a dominant trait. It is carried by a gene called FBN1, which encodes a connective protein called fibrillin-1. People have a pair of FBN1 genes. Because it is dominant, people...
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  Hemochromatosis

  Hemochromatosis type 1 (or HFE hereditary hemochromatosis, or HFE-related hereditary haemochromatosis) is a hereditary disease characterized by excessive absorption of dietary iron resulting in a pathological increase in total body iron stores. Humans, like most animals, have no means to excrete...
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  Sickle-cell disease

  Sickle-cell disease, or sickle-cell anaemia (or drepanocytosis), is a genetic life-long blood disorder characterized by red blood cells that assume an abnormal, rigid, sickle shape. Sickling decreases the cells' flexibility and results in a risk of various complications. The sickling occurs because...
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  Familial adenomatous polyposis

  Familial adenomatous polyposis (FAP) is an inherited condition in which numerous polyps form mainly in the epithelium of the large intestine. While these polyps start out benign, malignant transformation into colon cancer occurs when not treated. From early adolescence and onwards, patients with...
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  Cystic fibrosis

  Cystic fibrosis (also known as CF or mucoviscidosis) is a common hereditary disease which affects the entire body, causing progressive disability and often, early death. The name cystic fibrosis refers to the characteristic scarring (fibrosis) and cyst formation within the pancreas, first...
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  Haemophilia

  Haemophilia (also spelled hemophilia in North America, from the Greek haima αἷμα 'blood' and philia φιλος 'friend') is a group of hereditary genetic disorders that impair the body's ability to control blood clotting or coagulation, which is used to stop bleeding when a blood vessel is broken....