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How does Type 1 differ from Type 2 Gaucher disease?
Symptoms of Type 2 Gaucher disease, which are similar to those in Type 1, progress rapidly, but also include nervous system damage.
What is the most serious form of Gaucher disease?
Type 2 Gaucher disease is more serious, beginning within the first few months after birth.
What chromosome does Gaucher disease affect?
2-21
Is there a cure for Gaucher's disease?
there is no cure for gaucher disease but there are treatments for all types. type 1 and 3: enzyme replacement therapy, removal of the spleen, pain meds, and surgery on the bones. type 2:there isn't a good treatment due to the brain damage.
Is there cure for gaucher disease?
there is no cure for gaucher disease but there are treatments for all types. type 1 and 3: enzyme replacement therapy, removal of the spleen, pain meds, and surgery on the bones. type 2:there isn't a good treatment due to the brain damage.
What life expectancy do most infants with Type 3 Gaucher disease have?
Unfortunately, yes. Babies and Children with type 2 usually pass away before their second birthday even with enzyme replacement therapy treatment. Children with type 3 also have a very limited life-expectancy.
Is Graves' disease dominant or recessive?
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. Type 1 is also called non-neuronopathic Gaucher disease because the brain and spinal cord (the central nervous system) are usually not affected. The features of this condition range from mild to severe and may appear anytime from childhood to adulthood. Major signs and symptoms include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), lung disease, and bone abnormalities such as bone pain, fractures, and arthritis.Types 2 and 3 Gaucher disease are known as neuronopathic forms of the disorder because they are characterized by problems that affect the central nervous system. In addition to the signs and symptoms described above, these conditions can cause abnormal eye movements, seizures, and brain damage. Type 2 Gaucher disease usually causes life-threatening medical problems beginning in infancy. Type 3 Gaucher disease also affects the nervous system, but tends to progress more slowly than type 2.The most severe type of Gaucher disease is called the perinatal lethal form. This condition causes severe or life-threatening complications starting before birth or in infancy. Features of the perinatal lethal form can include extensive swelling caused by fluid accumulation before birth (hydrops fetalis); dry, scaly skin (ichthyosis) or other skin abnormalities; hepatosplenomegaly; distinctive facial features; and serious neurological problems. As its name indicates, most infants with the perinatal lethal form of Gaucher disease survive for only a few days after birth.Another form of Gaucher disease is known as the cardiovascular type because it primarily affects the heart, causing the heart valves to harden (calcify). People with the cardiovascular form of Gaucher disease may also have eye abnormalities, bone disease, and mild enlargement of the spleen (splenomegaly).How common is Gaucher disease?Gaucher disease occurs in 1 in 50,000 to 100,000 people in the general population. Type 1 is the most common form of the disorder, and occurs more frequently in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds. This condition affects 1 in 500 to 1,000 people of Ashkenazi Jewish heritage. The other forms of Gaucher disease are uncommon, and do not occur more frequently in people of Ashkenazi Jewish descent.What genes are related to Gaucher disease?Mutations in the GBA gene cause Gaucher disease.The GBA gene provides instructions for making an enzyme called beta-glucocerebrosidase. This enzyme breaks down a fatty substance called glucocerebroside into a sugar (glucose) and a simpler fat molecule (ceramide). Mutations in the GBA gene greatly reduce or eliminate the activity of beta-glucocerebrosidase. Without enough of this enzyme, glucocerebroside and related substances can build up to toxic levels within cells. Tissues and organs are damaged by the abnormal accumulation and storage of these substances, causing the characteristic features of Gaucher disease.Read more about the GBA gene.How do people inherit Gaucher disease?This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Is gauchers disease recessive or dominant?
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. Type 1 is also called non-neuronopathic Gaucher disease because the brain and spinal cord (the central nervous system) are usually not affected. The features of this condition range from mild to severe and may appear anytime from childhood to adulthood. Major signs and symptoms include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), lung disease, and bone abnormalities such as bone pain, fractures, and Arthritis.Types 2 and 3 Gaucher disease are known as neuronopathic forms of the disorder because they are characterized by problems that affect the central nervous system. In addition to the signs and symptoms described above, these conditions can cause abnormal eye movements, seizures, and brain damage. Type 2 Gaucher disease usually causes life-threatening medical problems beginning in infancy. Type 3 Gaucher disease also affects the nervous system, but tends to progress more slowly than type 2.The most severe type of Gaucher disease is called the perinatal lethal form. This condition causes severe or life-threatening complications starting before birth or in infancy. Features of the perinatal lethal form can include extensive swelling caused by fluid accumulation before birth (hydrops fetalis); dry, scaly skin (ichthyosis) or other skin abnormalities; hepatosplenomegaly; distinctive facial features; and serious neurological problems. As its name indicates, most infants with the perinatal lethal form of Gaucher disease survive for only a few days after birth.Another form of Gaucher disease is known as the cardiovascular type because it primarily affects the heart, causing the heart valves to harden (calcify). People with the cardiovascular form of Gaucher disease may also have eye abnormalities, bone disease, and mild enlargement of the spleen (splenomegaly).How common is Gaucher disease?Gaucher disease occurs in 1 in 50,000 to 100,000 people in the general population. Type 1 is the most common form of the disorder, and occurs more frequently in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds. This condition affects 1 in 500 to 1,000 people of Ashkenazi Jewish heritage. The other forms of Gaucher disease are uncommon, and do not occur more frequently in people of Ashkenazi Jewish descent.What genes are related to Gaucher disease?Mutations in the GBA gene cause Gaucher disease.The GBA gene provides instructions for making an enzyme called beta-glucocerebrosidase. This enzyme breaks down a fatty substance called glucocerebroside into a sugar (glucose) and a simpler fat molecule (ceramide). Mutations in the GBA gene greatly reduce or eliminate the activity of beta-glucocerebrosidase. Without enough of this enzyme, glucocerebroside and related substances can build up to toxic levels within cells. Tissues and organs are damaged by the abnormal accumulation and storage of these substances, causing the characteristic features of Gaucher disease.Read more about the GBA gene.How do people inherit Gaucher disease?This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Are there any treatments for gauchers disease?
In 1991, enzyme replacement therapy became available as the first effective treatment for Gaucher disease. The treatment consists of a modified form of the glucocerebrosidase enzyme given intravenously. Performed on an outpatient basis, the treatment takes about 1-2 h and is given every 2 weeks. Enzyme replacement therapy can stop and often reverse the symptoms of Gaucher disease, allowing patients to enjoy a better quality of life http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.section.227
Which disease is almost always associated with obesity?
cardiovascular disease and mainly type 2 diabetes
Gaucher disease?
DefinitionGaucher disease is a rare genetic disorder in which a person lacks an enzyme called glucocerebrosidase.Alternative NamesGlucocerebrosidase deficiency; Glucosylceramidase deficiencyCauses, incidence, and risk factorsGaucher disease affects an estimated 1 in 50,000 to 1 in 100,000 people in the general population. Persons of Eastern and Central European (Ashkenazi) Jewish heritage are at highest risk for the disease.It is an autosomal recessive disease. This means that the mother and father must both pass one abnormal copy of the gene to the child in order for the child to develop the disease. A parent who silently carries an abnormal copy of the gene is called a carrier.The lack of the glucocerebrosidase enzyme causes harmful substances to build up in the liver, spleen, bones, and bone marrow. The substances prevent cells and organs from working properly.There are three main subtypes of Gaucher disease:Type 1 disease is most common. It involves bone disease, anemia, an enlarged spleen and thrombocytopenia. Type I affects both children and adults. It is most common in the Ashkenazi Jewish population.Type 2 disease usually begins in infancy with severe neurologic involvement. This form can lead to rapid, early death.Type 3 disease may cause liver, spleen, and brain problems. Patients may live into adulthood.SymptomsSymptoms vary depending on the type of disease, but may include:Bone pain and fracturesCognitive impairmentEasy bruisingEnlarged spleen (splenomegaly)Enlarged liver (hepatomegaly)FatigueHeart valve problemsLung diseaseSeizuresSevere swelling(edema) at birthSkin changesSigns and testsThe doctor will perform a physical exam. The patient may have signs of liver and spleen swelling, bone changes, lung disease, eye movement problems, heart problems, or hearing loss.The following tests may be performed:Blood test to look for enzyme activityBone marrow aspirationBiopsy of the spleenMRICTX-ray of the skeletonGenetic testingTreatmentEnzyme replacement therapy is available. A bone marrow transplant may be needed in severe cases.Support GroupsFor more information contact:Childrens Gauchers Disease Research Fund: www.childrensgaucher.orgNational Gaucher Foundation: www.gaucherdisease.orgExpectations (prognosis)How well a person does depends on the subtype of the disease. The infantile form of Gaucher disease may lead to early death. Most affected children die before age 5.Adults with the type 1 form of the disease can expect normal life expectancy with enzyme replacement therapy.ComplicationsSeizuresAnemiaThrombocytopeniaBone problemsPreventionGenetic counseling is recommended for prospective parents with a family history of Gaucher disease. Testing can determine if parents carry the gene that could pass on the Gaucher disease. A prenatal test can also tell if the fetus has Gaucher syndrome.ReferencesStanley CA, Bennett MJ. Defects of metabolism in lipids. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 86.Kumar V, Abbas AK, Fausto N. Robbins and Cotran Pathologic Basis of Disease. 7th ed. St. Louis, Mo: WB Saunders; 2005:163-165.Sidransky E, Lamarca ME, Ginns EI. Therapy for Gaucher disease: Don't stop thinking about tomorrow. Mol Genet Metab. 2007 Feb;90(2):122-5. Epub 2006 Nov 3.
What has the author Jeanine Gaucher-Shultz written?
Jeanine Gaucher-Shultz has written: 'Uno, dos, tres' -- subject(s): Mexican drama, Readers, Spanish language '1, 2, 3' -- subject(s): Mexican drama, Readers, Spanish language
