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Gaucher's_disease abstract "Gaucher's disease or Gaucher disease (/ɡoʊˈʃeɪ/) is a genetic disease in which a fatty substance (lipid) accumulates in cells and certain organs.The disorder is characterized by bruising, fatigue, anemia, low blood platelets, and enlargement of the liver and spleen. It is caused by a hereditary deficiency of the enzyme glucocerebrosidase. This enzyme acts on the glycolipid glucocerebroside. When the enzyme is defective, glucosylceramide accumulates, particularly in white blood cells, most often macrophages (mononuclear leukocytes). Glucosylceramide can collect in the spleen, liver, kidneys, lungs, brain and bone marrow.Manifestations may include enlarged spleen and liver, liver malfunction, skeletal disorders and bone lesions that may be painful, severe neurologic complications, swelling of lymph nodes and (occasionally) adjacent joints, distended abdomen, a brownish tint to the skin, anemia, low blood platelets and yellow fatty deposits on the white of the eye (sclera). Persons affected most seriously 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 1 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 1 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 doctor Philippe Gaucher, who originally described it in 1882.".
Gaucher's_disease diseasesdb "5124".
Gaucher's_disease emedicineSubject "ped".
Gaucher's_disease emedicineTopic "837".
Gaucher's_disease icd10 "E75.2 (ILDS E75.220)".
Gaucher's_disease icd9 "272.7".
Gaucher's_disease medlineplus "000564".
Gaucher's_disease meshId "D005776".
Gaucher's_disease omim "230800".
Gaucher's_disease thumbnail Acid_beta_glucosidase.png?width=300.
Gaucher's_disease wikiPageExternalLink www.childrensgaucher.org.
Gaucher's_disease wikiPageExternalLink www.gaucher.org.uk.
Gaucher's_disease wikiPageExternalLink www.gaucherdisease.org.
Gaucher's_disease wikiPageExternalLink www.hideandseek.org.
Gaucher's_disease wikiPageID "564432".
Gaucher's_disease wikiPageRevisionID "604594947".
Gaucher's_disease caption "Acid beta-glucosidase".
Gaucher's_disease diseasesdb "5124".
Gaucher's_disease emedicinesubj "ped".
Gaucher's_disease emedicinetopic "837".
Gaucher's_disease genereviewsname "Gaucher Disease".
Gaucher's_disease genereviewsnbk "NBK1269".
Gaucher's_disease hasPhotoCollection Gaucher's_disease.
Gaucher's_disease icd "272.7".
Gaucher's_disease icd "E75.2".
Gaucher's_disease medlineplus "564".
Gaucher's_disease meshid "D005776".
Gaucher's_disease name "Gaucher's disease".
Gaucher's_disease omim "230800".
Gaucher's_disease wordnet_type synset-disease-noun-1.
Gaucher's_disease subject Category:Ashkenazi_Jews_topics.
Gaucher's_disease subject Category:Autosomal_recessive_disorders.
Gaucher's_disease subject Category:Lipid_storage_disorders.
Gaucher's_disease subject Category:Rare_diseases.
Gaucher's_disease subject Category:Skin_conditions_resulting_from_errors_in_metabolism.
Gaucher's_disease type Abstraction100002137.
Gaucher's_disease type AshkenaziJewsTopics.
Gaucher's_disease type Attribute100024264.
Gaucher's_disease type AutosomalRecessiveDisorders.
Gaucher's_disease type Communication100033020.
Gaucher's_disease type Condition113920835.
Gaucher's_disease type Disease114070360.
Gaucher's_disease type Disorder114052403.
Gaucher's_disease type IllHealth114052046.
Gaucher's_disease type Illness114061805.
Gaucher's_disease type LipidStorageDisorders.
Gaucher's_disease type Message106598915.
Gaucher's_disease type PathologicalState114051917.
Gaucher's_disease type PhysicalCondition114034177.
Gaucher's_disease type SkinConditionsResultingFromErrorsInMetabolism.
Gaucher's_disease type State100024720.
Gaucher's_disease type Subject106599788.
Gaucher's_disease type Disease.
Gaucher's_disease type AilmentCondition.
Gaucher's_disease type Situation.
Gaucher's_disease comment "Gaucher's disease or Gaucher disease (/ɡoʊˈʃeɪ/) is a genetic disease in which a fatty substance (lipid) accumulates in cells and certain organs.The disorder is characterized by bruising, fatigue, anemia, low blood platelets, and enlargement of the liver and spleen. It is caused by a hereditary deficiency of the enzyme glucocerebrosidase. This enzyme acts on the glycolipid glucocerebroside.".
Gaucher's_disease label "Choroba Gauchera".
Gaucher's_disease label "Doença de Gaucher".
Gaucher's_disease label "Enfermedad de Gaucher".
Gaucher's_disease label "Gaucher's disease".
Gaucher's_disease label "Maladie de Gaucher".
Gaucher's_disease label "Malattia di Gaucher".
Gaucher's_disease label "Morbus Gaucher".
Gaucher's_disease label "Ziekte van Gaucher".
Gaucher's_disease label "Болезнь Гоше".
Gaucher's_disease label "داء غوشيه".
Gaucher's_disease label "ゴーシェ病".
Gaucher's_disease label "高雪氏症".
Gaucher's_disease sameAs Morbus_Gaucher.
Gaucher's_disease sameAs Enfermedad_de_Gaucher.
Gaucher's_disease sameAs Maladie_de_Gaucher.
Gaucher's_disease sameAs Malattia_di_Gaucher.
Gaucher's_disease sameAs ゴーシェ病.
Gaucher's_disease sameAs 고셔병.
Gaucher's_disease sameAs Ziekte_van_Gaucher.
Gaucher's_disease sameAs Choroba_Gauchera.
Gaucher's_disease sameAs Doença_de_Gaucher.
Gaucher's_disease sameAs m.02qj4j.
Gaucher's_disease sameAs Q861645.
Gaucher's_disease sameAs Q861645.
Gaucher's_disease sameAs 438.
Gaucher's_disease sameAs Gaucher's_disease.
Gaucher's_disease wasDerivedFrom Gaucher's_disease?oldid=604594947.
Gaucher's_disease depiction Acid_beta_glucosidase.png.
Gaucher's_disease isPrimaryTopicOf Gaucher's_disease.
Gaucher's_disease name "Gaucher's disease".