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- Cholesteryl_ester_storage_disease abstract "Cholesteryl ester storage disease (CESD) is the late onset phenotype for lysosomal acid lipase deficiency, a Lysosomal storage disease, which also has an early onset phenotype known as Wolman disease that primarily affects infants. CESD can present in childhood but often goes unrecognized until adulthood when the underlying pathology is advanced. Many of the signs and symptoms are common to patients with other liver conditions.CESD is an autosomal recessive genetic condition and is characterized by hepatomegaly, persistently abnormal LFTs and type II hyperlipidemia. Splenomegaly and evidence of mild hypersplenism may affect some patients. Untreated, CESD may lead to fibrosis, cirrhosis, liver failure and death.Disease Risk In Families:• 25 per million incidence • Autosomal recessive disorder, LAL deficiency is carried on chromosome 10• Parents with an affected son or daughter have a 1 in 4 chance of having another affected child".
- Cholesteryl_ester_storage_disease icd10 "E75.5".
- Cholesteryl_ester_storage_disease icd9 "272.7".
- Cholesteryl_ester_storage_disease meshId "D015217".
- Cholesteryl_ester_storage_disease omim "278000".
- Cholesteryl_ester_storage_disease wikiPageExternalLink results?term=synageva.
- Cholesteryl_ester_storage_disease wikiPageExternalLink www.hideandseek.org.
- Cholesteryl_ester_storage_disease wikiPageExternalLink www.lalsolace.org.
- Cholesteryl_ester_storage_disease wikiPageExternalLink detail_lipid_storage_diseases.htm.
- Cholesteryl_ester_storage_disease wikiPageExternalLink www.synageva.com.
- Cholesteryl_ester_storage_disease wikiPageID "3267735".
- Cholesteryl_ester_storage_disease wikiPageLength "5850".
- Cholesteryl_ester_storage_disease wikiPageOutDegree "41".
- Cholesteryl_ester_storage_disease wikiPageRevisionID "661308698".
- Cholesteryl_ester_storage_disease wikiPageWikiLink Alcoholic_liver_disease.
- Cholesteryl_ester_storage_disease wikiPageWikiLink Autosomal_recessive.
- Cholesteryl_ester_storage_disease wikiPageWikiLink Autosomal_recessive_disorder.
- Cholesteryl_ester_storage_disease wikiPageWikiLink Cardiac_disease.
- Cholesteryl_ester_storage_disease wikiPageWikiLink Cardiovascular_disease.
- Cholesteryl_ester_storage_disease wikiPageWikiLink Category:Autosomal_recessive_disorders.
- Cholesteryl_ester_storage_disease wikiPageWikiLink Category:Lipid_storage_disorders.
- Cholesteryl_ester_storage_disease wikiPageWikiLink Category:Rare_diseases.
- Cholesteryl_ester_storage_disease wikiPageWikiLink Cholesterol.
- Cholesteryl_ester_storage_disease wikiPageWikiLink Chronic_liver_disease.
- Cholesteryl_ester_storage_disease wikiPageWikiLink Cirrhosis.
- Cholesteryl_ester_storage_disease wikiPageWikiLink Cryptogenic_cirrhosis.
- Cholesteryl_ester_storage_disease wikiPageWikiLink Dominance_(genetics).
- Cholesteryl_ester_storage_disease wikiPageWikiLink Fatty_liver.
- Cholesteryl_ester_storage_disease wikiPageWikiLink Fibrosis.
- Cholesteryl_ester_storage_disease wikiPageWikiLink Genetic_disorder.
- Cholesteryl_ester_storage_disease wikiPageWikiLink Hepatic_steatosis.
- Cholesteryl_ester_storage_disease wikiPageWikiLink Hepatocyte.
- Cholesteryl_ester_storage_disease wikiPageWikiLink Hepatocytes.
- Cholesteryl_ester_storage_disease wikiPageWikiLink Hepatomegaly.
- Cholesteryl_ester_storage_disease wikiPageWikiLink Heterozygote.
- Cholesteryl_ester_storage_disease wikiPageWikiLink High-density_lipoprotein.
- Cholesteryl_ester_storage_disease wikiPageWikiLink Hyperlipidemia.
- Cholesteryl_ester_storage_disease wikiPageWikiLink Kupffer_cell.
- Cholesteryl_ester_storage_disease wikiPageWikiLink Kupffer_cells.
- Cholesteryl_ester_storage_disease wikiPageWikiLink Lipid.
- Cholesteryl_ester_storage_disease wikiPageWikiLink Lipids.
- Cholesteryl_ester_storage_disease wikiPageWikiLink Liver_biopsies.
- Cholesteryl_ester_storage_disease wikiPageWikiLink Liver_transaminases.
- Cholesteryl_ester_storage_disease wikiPageWikiLink Lymphadenopathy.
- Cholesteryl_ester_storage_disease wikiPageWikiLink Lysosomal_acid_lipase_deficiency.
- Cholesteryl_ester_storage_disease wikiPageWikiLink Lysosomal_storage_disease.
- Cholesteryl_ester_storage_disease wikiPageWikiLink Malabsorption.
- Cholesteryl_ester_storage_disease wikiPageWikiLink Niemann_Pick.
- Cholesteryl_ester_storage_disease wikiPageWikiLink Niemann–Pick_disease.
- Cholesteryl_ester_storage_disease wikiPageWikiLink Non-alcoholic_fatty_liver_disease.
- Cholesteryl_ester_storage_disease wikiPageWikiLink Non-alcoholic_steatohepatitis.
- Cholesteryl_ester_storage_disease wikiPageWikiLink Pathology.
- Cholesteryl_ester_storage_disease wikiPageWikiLink Periportal_fibrosis.
- Cholesteryl_ester_storage_disease wikiPageWikiLink Splenomegaly.
- Cholesteryl_ester_storage_disease wikiPageWikiLink Synageva.
- Cholesteryl_ester_storage_disease wikiPageWikiLink Synageva_BioPharma.
- Cholesteryl_ester_storage_disease wikiPageWikiLink Transaminase.
- Cholesteryl_ester_storage_disease wikiPageWikiLink Transaminases.
- Cholesteryl_ester_storage_disease wikiPageWikiLink Triglyceride.
- Cholesteryl_ester_storage_disease wikiPageWikiLink Wolman_disease.
- Cholesteryl_ester_storage_disease wikiPageWikiLink Zygosity.
- Cholesteryl_ester_storage_disease wikiPageWikiLinkText "Cholesteryl ester storage disease".
- Cholesteryl_ester_storage_disease wikiPageWikiLinkText "cholesteryl ester storage disease".
- Cholesteryl_ester_storage_disease diseasesdb "31220".
- Cholesteryl_ester_storage_disease hasPhotoCollection Cholesteryl_ester_storage_disease.
- Cholesteryl_ester_storage_disease icd "272.7".
- Cholesteryl_ester_storage_disease icd "E75.5".
- Cholesteryl_ester_storage_disease meshid "D015217".
- Cholesteryl_ester_storage_disease name "Cholesteryl ester storage disease".
- Cholesteryl_ester_storage_disease omim "278000".
- Cholesteryl_ester_storage_disease wikiPageUsesTemplate Template:Infobox_disease.
- Cholesteryl_ester_storage_disease wikiPageUsesTemplate Template:Lipid_storage_disorders.
- Cholesteryl_ester_storage_disease subject Category:Autosomal_recessive_disorders.
- Cholesteryl_ester_storage_disease subject Category:Lipid_storage_disorders.
- Cholesteryl_ester_storage_disease subject Category:Rare_diseases.
- Cholesteryl_ester_storage_disease hypernym Phenotype.
- Cholesteryl_ester_storage_disease type Disease.
- Cholesteryl_ester_storage_disease type Disorder.
- Cholesteryl_ester_storage_disease type Thing.
- Cholesteryl_ester_storage_disease type Q12136.
- Cholesteryl_ester_storage_disease comment "Cholesteryl ester storage disease (CESD) is the late onset phenotype for lysosomal acid lipase deficiency, a Lysosomal storage disease, which also has an early onset phenotype known as Wolman disease that primarily affects infants. CESD can present in childhood but often goes unrecognized until adulthood when the underlying pathology is advanced.".
- Cholesteryl_ester_storage_disease label "Cholesteryl ester storage disease".
- Cholesteryl_ester_storage_disease sameAs m.092br_.
- Cholesteryl_ester_storage_disease sameAs Q2622714.
- Cholesteryl_ester_storage_disease sameAs Q2622714.
- Cholesteryl_ester_storage_disease wasDerivedFrom Cholesteryl_ester_storage_disease?oldid=661308698.
- Cholesteryl_ester_storage_disease isPrimaryTopicOf Cholesteryl_ester_storage_disease.
- Cholesteryl_ester_storage_disease name "Cholesteryl ester storage disease (CESD)".