Matches in DBpedia 2015-10 for { <http://dbpedia.org/resource/Gauchers_disease> ?p ?o }
- Gauchers_disease abstract "Gaucher's disease or Gaucher disease (/ɡoʊˈʃeɪ/) (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 enzyme glucocerebrosidase (also known as glucosylceramidase), which acts on glucocerebroside. When the enzyme is defective, glucocerebroside accumulates, particularly in white blood cells and especially in macrophages (mononuclear leukocytes). Glucocerebroside can collect in the spleen, liver, kidneys, lungs, brain, and bone marrow.Manifestations may include enlarged spleen and liver, liver malfunction, skeletal disorders or bone lesions that may be painful, severe neurological complications, swelling of lymph nodes and (occasionally) adjacent joints, distended abdomen, a brownish tint to the skin, anemia, low blood platelet count, and yellow fatty deposits on the white of the eye (sclera). Persons seriously affected may also be more susceptible to infection. Some forms of Gaucher's disease may be treated with enzyme replacement therapy.The disease is caused by a recessive mutation in a gene located on chromosome 1 and affects both males and females. About one in 100 people in the United States are carriers of the most common type of Gaucher disease. The carrier rate among Ashkenazi Jews is 8.9% while the birth incidence is one in 450.Gaucher's disease is the most common of the lysosomal storage diseases. It is a form of sphingolipidosis (a subgroup of lysosomal storage diseases), as it involves dysfunctional metabolism of sphingolipids.The disease is named after the French physician Philippe Gaucher, who originally described it in 1882.".
- Gauchers_disease icd10 "E75.2(ILDSE75.220)".
- Gauchers_disease icd9 "272.7".
- Gauchers_disease meshId "D005776".
- Gauchers_disease omim "230800".
- Gauchers_disease thumbnail Acid_beta_glucosidase.png?width=300.
- Gauchers_disease wikiPageExternalLink www.childrensgaucher.org.
- Gauchers_disease wikiPageExternalLink www.gaucher.org.uk.
- Gauchers_disease wikiPageExternalLink www.gaucherdisease.org.
- Gauchers_disease wikiPageExternalLink www.hideandseek.org.
- Gauchers_disease wikiPageID "564432".
- Gauchers_disease wikiPageID "579705".
- Gauchers_disease wikiPageLength "22565".
- Gauchers_disease wikiPageLength "55".
- Gauchers_disease wikiPageOutDegree "1".
- Gauchers_disease wikiPageOutDegree "115".
- Gauchers_disease wikiPageRedirects Gauchers_disease.
- Gauchers_disease wikiPageRevisionID "343116006".
- Gauchers_disease wikiPageRevisionID "680014154".
- Gauchers_disease wikiPageWikiLink Acid_phosphatase.
- Gauchers_disease wikiPageWikiLink Agranulocyte.
- Gauchers_disease wikiPageWikiLink Alglucerase.
- Gauchers_disease wikiPageWikiLink Alkaline_phosphatase.
- Gauchers_disease wikiPageWikiLink Allele.
- Gauchers_disease wikiPageWikiLink Amino_acid.
- Gauchers_disease wikiPageWikiLink Anemia.
- Gauchers_disease wikiPageWikiLink Angiotensin-converting_enzyme.
- Gauchers_disease wikiPageWikiLink Antibody.
- Gauchers_disease wikiPageWikiLink Ashkenazi_Jews.
- Gauchers_disease wikiPageWikiLink Atomic_mass_unit.
- Gauchers_disease wikiPageWikiLink Autosomal_recessive.
- Gauchers_disease wikiPageWikiLink Biological_tissue.
- Gauchers_disease wikiPageWikiLink Bleeding.
- Gauchers_disease wikiPageWikiLink Bone_disease.
- Gauchers_disease wikiPageWikiLink Bone_marrow.
- Gauchers_disease wikiPageWikiLink Bruise.
- Gauchers_disease wikiPageWikiLink Category:Ashkenazi_Jews_topics.
- Gauchers_disease wikiPageWikiLink Category:Autosomal_recessive_disorders.
- Gauchers_disease wikiPageWikiLink Category:Lipid_storage_disorders.
- Gauchers_disease wikiPageWikiLink Category:Rare_diseases.
- Gauchers_disease wikiPageWikiLink Category:Skin_conditions_resulting_from_errors_in_metabolism.
- Gauchers_disease wikiPageWikiLink Cell_membrane.
- Gauchers_disease wikiPageWikiLink Chromosome.
- Gauchers_disease wikiPageWikiLink Chromosome_1_(human).
- Gauchers_disease wikiPageWikiLink Cirrhosis.
- Gauchers_disease wikiPageWikiLink Dominance_(genetics).
- Gauchers_disease wikiPageWikiLink Eliglustat.
- Gauchers_disease wikiPageWikiLink Enzyme.
- Gauchers_disease wikiPageWikiLink Enzyme_replacement_therapy.
- Gauchers_disease wikiPageWikiLink Enzyme_replacement_treatment.
- Gauchers_disease wikiPageWikiLink Epileptic_seizure.
- Gauchers_disease wikiPageWikiLink Eponym.
- Gauchers_disease wikiPageWikiLink Erlenmeyer_flask.
- Gauchers_disease wikiPageWikiLink Fabry_disease.
- Gauchers_disease wikiPageWikiLink Femur.
- Gauchers_disease wikiPageWikiLink Gauchers_disease.
- Gauchers_disease wikiPageWikiLink Genetic_carrier.
- Gauchers_disease wikiPageWikiLink Genetic_counseling.
- Gauchers_disease wikiPageWikiLink Genetic_disorder.
- Gauchers_disease wikiPageWikiLink Genetic_testing.
- Gauchers_disease wikiPageWikiLink Glucocerebrosidase.
- Gauchers_disease wikiPageWikiLink Glucocerebroside.
- Gauchers_disease wikiPageWikiLink Glucosylceramide.
- Gauchers_disease wikiPageWikiLink Hepatomegaly.
- Gauchers_disease wikiPageWikiLink Hepatosplenomegaly.
- Gauchers_disease wikiPageWikiLink Heterozygote.
- Gauchers_disease wikiPageWikiLink Homozygote.
- Gauchers_disease wikiPageWikiLink Housekeeping_gene.
- Gauchers_disease wikiPageWikiLink Human_brain.
- Gauchers_disease wikiPageWikiLink Human_lung.
- Gauchers_disease wikiPageWikiLink Hypersplenism.
- Gauchers_disease wikiPageWikiLink ILDS.
- Gauchers_disease wikiPageWikiLink Imiglucerase.
- Gauchers_disease wikiPageWikiLink Immunoglobulin.
- Gauchers_disease wikiPageWikiLink Incidence_(epidemiology).
- Gauchers_disease wikiPageWikiLink Infection.
- Gauchers_disease wikiPageWikiLink Intravenous.
- Gauchers_disease wikiPageWikiLink Intravenous_therapy.
- Gauchers_disease wikiPageWikiLink Kidney.
- Gauchers_disease wikiPageWikiLink Kilodalton.
- Gauchers_disease wikiPageWikiLink Krabbe_disease.
- Gauchers_disease wikiPageWikiLink Leukopenia.
- Gauchers_disease wikiPageWikiLink Light_microscopy.
- Gauchers_disease wikiPageWikiLink Lipid.
- Gauchers_disease wikiPageWikiLink List_of_radiographic_findings_associated_with_cutaneous_conditions.
- Gauchers_disease wikiPageWikiLink List_of_skeletal_disorders.
- Gauchers_disease wikiPageWikiLink Liver.
- Gauchers_disease wikiPageWikiLink Lymph_node.
- Gauchers_disease wikiPageWikiLink Lysosomal_storage_disease.
- Gauchers_disease wikiPageWikiLink Lysosome.
- Gauchers_disease wikiPageWikiLink Macrophage.
- Gauchers_disease wikiPageWikiLink Medical_genetics_of_Ashkenazi_Jews.
- Gauchers_disease wikiPageWikiLink Medical_genetics_of_Jews.
- Gauchers_disease wikiPageWikiLink Metachromatic_leukodystrophy.
- Gauchers_disease wikiPageWikiLink Microscopy.
- Gauchers_disease wikiPageWikiLink Miglustat.
- Gauchers_disease wikiPageWikiLink Mononuclear_leukocytes.
- Gauchers_disease wikiPageWikiLink Multiple_myeloma.
- Gauchers_disease wikiPageWikiLink Myelin.
- Gauchers_disease wikiPageWikiLink Myelin_sheath.