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Gaucher disease, types 2-5
Gaucher disease, types 2-5A series of disease due to glucocerebrosidase deficiency and accumulation of glucocerebroside in cells. By comparison with type 1 Gaucher disease, these are far less frequent forms of Gaucher disease. RELATED TERMS-------------------------------------- Disease Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the rubella (German measles) virus. SIMILAR TERMS-------------------------------------- Gaucher disease A series of 5 diseases due to deficient activity of the enzyme glucocerebrosidase, leading to accumulation of glucocerebroside in tissues of the body. The 5 types of Gaucher disease encompass a continuum of clinical findings from a lethal form before or just after birth to a form so mild that it may not be diagnosed until old age. All 5 types of Gaucher disease are inherited in an autosomal recessive manner. Gaucher disease, type 1 The most common and best known form of Gaucher disease. It affects the spleen, liver, and bone marrow and spares the brain. The symptoms include enlargement of the spleen (usually the first sign), anemia, low blood platelets, increased skin pigmentation, and a yellow fatty spot on the white of the eye (a pinguecula). Severe bone involvement can lead to pain and collapse of the bone of the hips, shoulders, and spine. Gaucher's disease Deficiency of acid glucosidase. Glucosyl ceramide accumulates in the reticuloendothelial cells in bone marrow, spleen and lymph nodes and may cause polyarthralgia and osteonecrosis of the hip. PREVIOUS AND NEXT TERMS-------------------------------------- Gastroschisis A birth defect in which there is a separation in the abdominal wall. Through this opening protrudes part of the intestines which are not covered by peritoneum (the membrane that normally lines the inside of the abdomen). The opening in the abdominal wall in gastroschisis is never at the site of the umbilicus (the navel or belly button). Rather, the umbilicus is characteristically to the left of the gastroschisis and is separated from it by a bridge of skin. Gastroscope A flexible, lighted instrument that is put through the mouth and down the esophagus to view the stomach. Tissue from the stomach can also be removed through the gastroscope. Gastrostomy, percutaneous endoscopic (PEG) A surgical procedure for placing a feeding tube without having to perform an open laparotomy (operation on the abdomen). The aim of PEG is to feed those who cannot swallow. PEG may be done by a surgeon, otolaryngologist (ENT specialist) or gastroenterologist (GI specialist). It is done in a. hospital or outpatient surgical facility. Local anesthesia (usually lidocaine or another spray) is used to anesthetize the throat. An endoscope (a flexible, lighted instrument) is passed through the mouth, throat and esophagus to the stomach. The surgeon then makes a small incision (cut) in the skin of the abdomen and pushes an intravenous cannula (an IV tube) through the skin into the stomach and sutures (ties) it in place. The patient can usually go home the same day or the next morning. Possible complications include wound infection (as in any kind of surgery) and dislodging or malfunction of the tube. Percutaneous endoscopic gastrostomy may be a mouthful (as a term) but it describes the procedure accurately. A gastrostomy (a surgical opening into the stomach) is made percutaneously (through the skin) using an endoscope to put the feeding tube in place. PEG takes less time, carries less risk and costs less than a classic surgical gastrostomy which requires opening the abdomen. Gaucher disease A series of 5 diseases due to deficient activity of the enzyme glucocerebrosidase, leading to accumulation of glucocerebroside in tissues of the body. The 5 types of Gaucher disease encompass a continuum of clinical findings from a lethal form before or just after birth to a form so mild that it may not be diagnosed until old age. All 5 types of Gaucher disease are inherited in an autosomal recessive manner. Gaucher disease, type 1 The most common and best known form of Gaucher disease. It affects the spleen, liver, and bone marrow and spares the brain. The symptoms include enlargement of the spleen (usually the first sign), anemia, low blood platelets, increased skin pigmentation, and a yellow fatty spot on the white of the eye (a pinguecula). Severe bone involvement can lead to pain and collapse of the bone of the hips, shoulders, and spine. Gaucher disease, types 2-5 Gay gene A gene located on the X chromosome which was alleged to determine male homosexuality. The "gay gene" was dubbed homosexuality 1 (HMS1) and the male sexual orientation gene. It was thought to be in chromosome band Xq28. However, one would expect there to be strong selective pressures against a gene for male homosexual orientation. The original claim for the "gay gene" was made in 1993 by Dean H. Hamer and colleagues. There has been no independent confirmation of the existence of a "gay gene" and today there is considerable doubt about its existence. Gay suicide risk High rates of suicide have consistently been reported among homosexuals, particularly among adolescents and young adults. GB virus C A virus related to the hepatitis C virus but which does not cause hepatitis and, in fact, is not known to be responsible for any disease. Infection with GB virus C (GBV-C) is beneficial to HIV-infected patients. They enjoy longer survival if they are coinfected with this virus and HIV than if they have HIV alone. Having two viruses is better than one here. Having both HIV and GB virus C is better than having HIV alone. GB virus C (GBV-C) is also called hepatitis G. However, the designation GB virus C (GBV-C) is preferred because the virus is not a cause of hepatitis. GBV-C GB virus C is genetically related to the hepatitis C virus but which does not cause hepatitis and, in fact, is not known to be responsible for any disease. Infection with GB virus C (GBV-C) seems to be beneficial to HIV-infected patients. They enjoy longer survival if they are coinfected with this virus and HIV than if they have HIV alone. GB virus C (GBV-C) is also called hepatitis G. However, the designation GB virus C (GBV-C) is preferred because the virus is not a cause of hepatitis. GDF-8 The gene encoding growth and differentiation factor, also known as myostatin. We thank you for using the Medical Glossary to search for Gaucher disease, types 2-5. If you have a better definition for Gaucher disease, types 2-5 than the one presented here, please let us know by making use of the suggest a term option. This definition of Gaucher disease, types 2-5 may be disputed by other professionals. Our attempt is to provide easy definitions on Gaucher disease, types 2-5 and any other medical topic for the public at large.
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