Matches in DBpedia 2016-04 for { <http://dbpedia.org/resource/Cystinosis> ?p ?o }
- Cystinosis abstract "Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of the amino acid cystine. It is a genetic disorder that typically follows an autosomal recessive inheritance pattern. Cystinosis is the most common cause of Fanconi syndrome in the pediatric age group. Fanconi syndrome occurs when the function of cells in renal tubules are impaired, leading to abnormal amounts of carbohydrates and amino acids in the urine, excessive urination, and low blood levels of potassium and phosphates.Cystinosis was the first documented genetic disease belonging to the group of lysosomal-transport-defect disorders. It is a rare autosomal recessive disorder resulting from accumulation of free cystine in lysosomes, eventually leading to intracellular crystal formation throughout the body. Cystinosis is caused by mutations in the CTNS gene that codes for cystinosin, the lysosomal membrane-specific transporter for cystine. Intracellular metabolism of cystine, as it happens with all amino acids, requires its transport across the cell membrane. After degradation of endocytosed protein to cystine within lysosomes, it is normally transported to the cytosol. But if there is a defect in the carrier protein, cystine is accumulated in lysosomes. As cystine is highly insoluble, when its concentration in tissue lysosomes increase, its solubility is immediately exceeded and crystalline precipitates are formed in almost all organs and tissues.However, the progression of the disease is not related to the presence of crystals in target tissues. Although tissue damage might depend on cystine accumulation, the mechanisms of tissue damage are not fully understood. Increased intracellular cystine profoundly disturbs cellular oxidative metabolism and glutathione status, leading to altered mitochondrial energy metabolism, autophagy, and apoptosis.Cystinosis is usually treated with cysteamine, which is prescribed to decrease intralysosomal cystine accumulation. However, the recent discovery of new pathogenic mechanisms and the development of an animal model of the disease may open possibilities for the development of new treatment modalities to improve long-term prognosis.".
- Cystinosis icd10 "E72.0".
- Cystinosis icd9 "270.0".
- Cystinosis meshId "D003554".
- Cystinosis thumbnail Cystine-skeletal.png?width=300.
- Cystinosis wikiPageExternalLink knowcystinosis.com.
- Cystinosis wikiPageExternalLink procysbi.com.
- Cystinosis wikiPageExternalLink nord59.htm.
- Cystinosis wikiPageExternalLink www.cystinosis.ie.
- Cystinosis wikiPageExternalLink www.cystinosis.org.
- Cystinosis wikiPageExternalLink www.cystinosis.org.uk.
- Cystinosis wikiPageExternalLink www.cystinosisfoundation.org.
- Cystinosis wikiPageExternalLink www.cystinosisregistry.org.
- Cystinosis wikiPageExternalLink www.cystinosisresearch.org.
- Cystinosis wikiPageExternalLink www.hideandseek.org.
- Cystinosis wikiPageExternalLink br.fcgi?book=gene&part=ctns.
- Cystinosis wikiPageID "1899336".
- Cystinosis wikiPageLength "14278".
- Cystinosis wikiPageOutDegree "63".
- Cystinosis wikiPageRevisionID "705636347".
- Cystinosis wikiPageWikiLink Acidosis.
- Cystinosis wikiPageWikiLink Amino_acid.
- Cystinosis wikiPageWikiLink Apoptosis.
- Cystinosis wikiPageWikiLink Autophagy.
- Cystinosis wikiPageWikiLink Bethesda,_Maryland.
- Cystinosis wikiPageWikiLink Brittany.
- Cystinosis wikiPageWikiLink CTNS_(gene).
- Cystinosis wikiPageWikiLink Carbohydrate.
- Cystinosis wikiPageWikiLink Category:Amino_acid_metabolism_disorders.
- Cystinosis wikiPageWikiLink Category:Autosomal_recessive_disorders.
- Cystinosis wikiPageWikiLink Category:Lysosomal_storage_diseases.
- Cystinosis wikiPageWikiLink Chromosome_17_(human).
- Cystinosis wikiPageWikiLink Cornea.
- Cystinosis wikiPageWikiLink Cysteamine.
- Cystinosis wikiPageWikiLink Cystine.
- Cystinosis wikiPageWikiLink Cystinuria.
- Cystinosis wikiPageWikiLink Cytosol.
- Cystinosis wikiPageWikiLink Diabetes_mellitus.
- Cystinosis wikiPageWikiLink Dominance_(genetics).
- Cystinosis wikiPageWikiLink Endocytosis.
- Cystinosis wikiPageWikiLink Fanconi_syndrome.
- Cystinosis wikiPageWikiLink File:Autorecessive.svg.
- Cystinosis wikiPageWikiLink France.
- Cystinosis wikiPageWikiLink Genetic_disorder.
- Cystinosis wikiPageWikiLink Glutathione.
- Cystinosis wikiPageWikiLink Hartnup_disease.
- Cystinosis wikiPageWikiLink Inheritance.
- Cystinosis wikiPageWikiLink Kidney.
- Cystinosis wikiPageWikiLink Kidney_transplantation.
- Cystinosis wikiPageWikiLink Lysosomal_storage_disease.
- Cystinosis wikiPageWikiLink Lysosome.
- Cystinosis wikiPageWikiLink Metabolism.
- Cystinosis wikiPageWikiLink Mitochondrion.
- Cystinosis wikiPageWikiLink National_Institutes_of_Health.
- Cystinosis wikiPageWikiLink Necker-Enfants_Malades_Hospital.
- Cystinosis wikiPageWikiLink Nephron.
- Cystinosis wikiPageWikiLink Nervous_system.
- Cystinosis wikiPageWikiLink Paris.
- Cystinosis wikiPageWikiLink Phosphate.
- Cystinosis wikiPageWikiLink Photophobia.
- Cystinosis wikiPageWikiLink Polyuria.
- Cystinosis wikiPageWikiLink Potassium.
- Cystinosis wikiPageWikiLink Renal_failure.
- Cystinosis wikiPageWikiLink Robert_Gordon_University.
- Cystinosis wikiPageWikiLink Sodium_citrate.
- Cystinosis wikiPageWikiLink Thyroid.
- Cystinosis wikiPageWikiLink Tulane_University_School_of_Medicine.
- Cystinosis wikiPageWikiLink University_of_California,_San_Diego.
- Cystinosis wikiPageWikiLink University_of_Michigan.
- Cystinosis wikiPageWikiLink University_of_Sunderland.
- Cystinosis wikiPageWikiLink Urine.
- Cystinosis wikiPageWikiLink X-linked_hypophosphatemia.
- Cystinosis wikiPageWikiLink File:Nephropathic_cystenosis_NHGRI-79209.jpg.
- Cystinosis wikiPageWikiLinkText "Cystinosis".
- Cystinosis wikiPageWikiLinkText "Cystinosis#Cystinotic".
- Cystinosis wikiPageWikiLinkText "cystinosis".
- Cystinosis caption "Chemical structure of cystine formed from L-cysteine".
- Cystinosis diseasesdb "3382".
- Cystinosis emedicinesubj "ped".
- Cystinosis emedicinetopic "538".
- Cystinosis icd "270".
- Cystinosis icd "E72.0".
- Cystinosis meshid "D003554".
- Cystinosis name "Cystinosis".
- Cystinosis wikiPageUsesTemplate Template:Amino_acid_metabolic_pathology.
- Cystinosis wikiPageUsesTemplate Template:Infobox_disease.
- Cystinosis wikiPageUsesTemplate Template:NLM.
- Cystinosis wikiPageUsesTemplate Template:OMIM.
- Cystinosis wikiPageUsesTemplate Template:Reflist.
- Cystinosis subject Category:Amino_acid_metabolism_disorders.
- Cystinosis subject Category:Autosomal_recessive_disorders.
- Cystinosis subject Category:Lysosomal_storage_diseases.
- Cystinosis hypernym Disease.
- Cystinosis type Disease.
- Cystinosis type Disorder.
- Cystinosis type Error.
- Cystinosis type Thing.
- Cystinosis type Q12136.
- Cystinosis comment "Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of the amino acid cystine. It is a genetic disorder that typically follows an autosomal recessive inheritance pattern. Cystinosis is the most common cause of Fanconi syndrome in the pediatric age group.".
- Cystinosis label "Cystinosis".