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Gaucher disease - Symptoms and causes - Mayo Clinic
Blood disorders. A decrease in healthy red blood cells (anemia) can result in severe fatigue. Gaucher disease also affects the cells responsible for clotting, which can cause easy bruising and nosebleeds. More rarely, Gaucher disease affects the brain, which can cause abnormal eye movements, muscle rigidity, swallowing difficulties and seizures.
Mayoclinic.orgDA: 18 PA: 50 MOZ Rank: 84
Gaucher Disease - National Institute of Neurological Disorders and …
Gaucher disease is one of the inherited metabolic disorders known as lipid storage diseases. Lipids are fatty materials that include oils, fatty acids, waxes, and steroids (such as cholesterol and estrogen). People with Gaucher disease either do not produce enough of the enzyme glucocerebrosidase needed to break down lipids or have enzymes that do not work properly.
Ninds.nih.govDA: 17 PA: 45 MOZ Rank: 63
What is Gaucher disease? Visit GaucherDisease.info
What is Gaucher disease? Gaucher disease is a rare genetic disorder that is one of a group called lysosomal storage disorders. It is an inherited disorder in which a fatty substance called glucocerebroside builds up in the body’s organs and tissues.. It is caused by deficiency in an enzyme called ‘glucocerebrosidase’. 1 In people with Gaucher disease, the gene that would …
Gaucherdisease.infoDA: 23 PA: 23 MOZ Rank: 26
Gaucher Disease: Causes, Symptoms & Treatment
Gaucher disease type 3: Worldwide, Gaucher disease type 3 is the most common form, but it’s rare in the United States. It appears before age 10 and causes bone and organ abnormalities and neurological (brain) problems. Treatments can help many people with Gaucher disease type 3 live into their 20s or 30s.
My.clevelandclinic.orgDA: 22 PA: 38 MOZ Rank: 63
Gaucher Disease News Home - Gaucher Disease News
Gaucher Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. …
Gaucherdiseasenews.comDA: 22 PA: 22 MOZ Rank: 27
Gaucher disease | Genetic and Rare Diseases Information Center …
Gaucher disease type 1 is the most common form. Gaucher disease follows an autosomal recessive pattern of inheritance. It is caused by mutations in the GBA gene. Treatment depends on the specific subtype, and may include enzyme replacement therapy (ERT) or substrate reduction therapy (SRT).
Rarediseases.info.nih.govDA: 25 PA: 30 MOZ Rank: 60
Gaucher disease - Diagnosis and treatment - Mayo Clinic
Diagnosis. During a physical exam, your doctor will press on your or your child's abdomen to check the size of the spleen and liver. To determine if your child has Gaucher disease, the doctor will compare your child's height and weight to standardized growth charts. He or she might also recommend certain lab tests, imaging scans and genetic ...
Mayoclinic.orgDA: 18 PA: 50 MOZ Rank: 94
Gaucher Disease - NORD (National Organization for Rare Disorders)
Gaucher disease type 1 is also known as non-neuronopathic, because it does not involve the central nervous system (brain and spinal cord). Type 1 Gaucher disease is the most common form of the condition. Most individuals with Gaucher disease type 1 experience easy bruising due to low levels of blood clotting cells known as platelets ...
Rarediseases.orgDA: 16 PA: 31 MOZ Rank: 54
About Gaucher Disease - Genome.gov
Gaucher disease occurs in about 1 in 50,000 to 1 in 100,000 individuals in the general population. Type 1 is found more frequently among individuals who are of Ashkenazi Jewish ancestry. Type 1 Gaucher disease is present 1 in 500 to 1 in 1000 people of Ashkenazi Jewish ancestry, and approximately 1 in 14 Ashkenazi Jews is a carrier. Type 2 and ...
Genome.govDA: 14 PA: 34 MOZ Rank: 56
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1.Mistry PK, Sadan S, Yang R et al. Am J Hematol 2007;82(8):697-701. 2.National Gaucher Foundation. Gaucher Disease Prognosis and Life Expectancy.
Screener.gaucherguide.caDA: 24 PA: 6 MOZ Rank: 39
Gaucher's disease - Wikipedia
Gaucher's disease or Gaucher disease (/ ɡ oʊ ˈ ʃ eɪ /) (GD) is a genetic disorder in which glucocerebroside (a sphingolipid, also known as glucosylceramide) accumulates in cells and certain organs.The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the …
En.wikipedia.orgDA: 16 PA: 25 MOZ Rank: 51
Gaucher Disease: MedlinePlus
Gaucher disease is a rare, inherited disorder. It is a type of lipid metabolism disorder. If you have it, you do not have enough of an enzyme called glucocerebrosidase. This causes too much of a fatty substance to build up in your spleen, liver, lungs, bones and, sometimes, your brain. This prevents these organs from working properly. Type 1 ...
Medlineplus.govDA: 15 PA: 20 MOZ Rank: 46
Gaucher disease: MedlinePlus Genetics
Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected individuals. Researchers have described several types of Gaucher disease based on their characteristic features. Type 1 Gaucher disease is the most common form of this condition.
Medlineplus.govDA: 15 PA: 36 MOZ Rank: 63
Gaucher Disease Support Organisations
Here are organisations and support groups for the Gaucher disease community. International Gaucher Alliance (IGA) An organisation representing the interests of Gaucher patients and groups throughout the world. Visit. EURORDIS. A non-governmental patient-driven alliance of 695 patient organisations in 63 countries.
Gaucherdisease.infoDA: 23 PA: 31 MOZ Rank: 67
Gaucher Disease - BrainFacts
Gaucher disease is the most common of the inherited metabolic disorder known as lipid storage diseases. Lipids are fatty materials that include oils, fatty acids, waxes, and steroids (such as cholesterol and estrogen). Gaucher disease is caused by a deficiency of the enzyme glucocerebrosidase. Fatty materials can accumulate in the spleen, liver, lungs, bone marrow, …
Brainfacts.orgDA: 18 PA: 50 MOZ Rank: 36
What is Gaucher Disease?
Gaucher disease is a serious, heritable disorder that can affect many organs and tissues. The signs and symptoms of the disease vary widely among affected individuals, and several types of Gaucher disease have been described.. Causes of Gaucher disease. Gaucher disease is caused by mutations in a gene called GBA, which provides the instructions to make an enzyme called …
Gaucherdiseasenews.comDA: 22 PA: 25 MOZ Rank: 62
What are the main signs and symptoms of Gaucher disease?
Symptoms vary among people who have type 1 Gaucher disease. Some do not have any symptoms, but usually there is liver and spleen enlargement, and reduced haemoglobin and platelet count. 6 In addition to these signs and symptoms, children often have delayed growth and development. 6 People with type 2 and type 3 Gaucher disease may have similar signs and …
Isitgaucher.sgDA: 14 PA: 25 MOZ Rank: 55
Gaucher disease - Genes and Disease - NCBI Bookshelf
Gaucher disease is considerably more common in the descendants of Jewish people from Eastern Europe (Ashkenazi), although individuals from any ethnic group may be affected. Among the Ashkenazi Jewish population, Gaucher disease is the most common genetic disorder, with an incidence of approximately 1 in 450 persons. In the general public, Gaucher disease affects …
Ncbi.nlm.nih.govDA: 20 PA: 16 MOZ Rank: 53
Gaucher Disease: 5 Types, Symptoms, Treatment, Causes
Type 2 Gaucher disease is very severe and typically leads to life-threatening medical problems that begin in infancy. Type 3 Gaucher disease (chronic neuronopathic form) Like Type 2 Gaucher disease, type 3 Gaucher is a neuronopathic form of Gaucher disease that affects the nervous system, but symptoms do not progress as rapidly as in Type 2 ...
Medicinenet.comDA: 19 PA: 28 MOZ Rank: 65
Gaucher Disease - The Medical Biochemistry Page
Gaucher disease (pronounced “go-shay”) belongs to a family of disorders identified as lysosomal storage diseases. The disease is named for the French physician, Philippe Gaucher, who first described the disorder in 1882. Gaucher disease is an autosomal recessive disorder that is characterized by the lysosomal accumulation of ...
Themedicalbiochemistrypage.orgDA: 30 PA: 17 MOZ Rank: 66
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