Matches in DBpedia 2014 for { <http://dbpedia.org/resource/Congenital_disorder_of_glycosylation_type_IIc> ?p ?o. }
Showing items 1 to 39 of
39
with 100 items per page.
- Congenital_disorder_of_glycosylation_type_IIc abstract "Congenital disorder of glycosylation type IIc or Leukocyte adhesion deficiency-2 (LAD2) is a type of leukocyte adhesion deficiency attributable to the absence of neutrophil sialyl-LewisX, a ligand of P- and E-selectin on vascular endothelium. It is associated with SLC35C1.This disorder was discovered in two unrelated Israeli boys 3 and 5 years of age, each the offspring of consanguineous parents. Both had severe mental retardation, short stature, a distinctive facial appearance, and the Bombay (hh) blood phenotype, and both were secretor- and Lewis-negative. They both had had recurrent severe bacterial infections similar to those seen in patients with LAD1, including pneumonia, peridontitis, otitis media, and localized cellulitis. Similar to that in patients with LAD1, their infections were accompanied by pronounced leukocytosis (30,000 to 150,000/mm3) but an absence of pus formation at sites of recurrent cellulitis. In vitro studies revealed a pronounced defect in neutrophil motility. Because the genes for the red blood cell H antigen and for the secretor status encode for distinct α1,2-fucosyltransferases and the synthesis of Sialyl-LewisX requires an α1,3-fucosyltransferase, it was postulated that a general defect in fucose metabolism is the basis for this disorder. It was subsequently found that GDP-L-fucose transport into Golgi vesicles was specifically impaired, and then missense mutations in the GDP-fucose transporter cDNA of three patients with LAD2 were discovered. Thus, GDP-fucose transporter deficiency is a cause of LAD2.".
- Congenital_disorder_of_glycosylation_type_IIc omim "266265".
- Congenital_disorder_of_glycosylation_type_IIc wikiPageID "28002757".
- Congenital_disorder_of_glycosylation_type_IIc wikiPageRevisionID "605894897".
- Congenital_disorder_of_glycosylation_type_IIc hasPhotoCollection Congenital_disorder_of_glycosylation_type_IIc.
- Congenital_disorder_of_glycosylation_type_IIc name "Congenital disorder of glycosylation type IIc".
- Congenital_disorder_of_glycosylation_type_IIc omim "266265".
- Congenital_disorder_of_glycosylation_type_IIc subject Category:Autosomal_recessive_disorders.
- Congenital_disorder_of_glycosylation_type_IIc subject Category:Congenital_defects_of_phagocyte_number,_function,_or_both.
- Congenital_disorder_of_glycosylation_type_IIc subject Category:Rare_diseases.
- Congenital_disorder_of_glycosylation_type_IIc type Abnormality114501726.
- Congenital_disorder_of_glycosylation_type_IIc type Abstraction100002137.
- Congenital_disorder_of_glycosylation_type_IIc type Anomaly114505821.
- Congenital_disorder_of_glycosylation_type_IIc type Attribute100024264.
- Congenital_disorder_of_glycosylation_type_IIc type AutosomalRecessiveDisorders.
- Congenital_disorder_of_glycosylation_type_IIc type BirthDefect114465048.
- Congenital_disorder_of_glycosylation_type_IIc type Condition113920835.
- Congenital_disorder_of_glycosylation_type_IIc type CongenitalDefectsOfPhagocyteNumber,Function,OrBoth.
- Congenital_disorder_of_glycosylation_type_IIc type Defect114464005.
- Congenital_disorder_of_glycosylation_type_IIc type Disease114070360.
- Congenital_disorder_of_glycosylation_type_IIc type Disorder114052403.
- Congenital_disorder_of_glycosylation_type_IIc type IllHealth114052046.
- Congenital_disorder_of_glycosylation_type_IIc type Illness114061805.
- Congenital_disorder_of_glycosylation_type_IIc type Imperfection114462666.
- Congenital_disorder_of_glycosylation_type_IIc type PathologicalState114051917.
- Congenital_disorder_of_glycosylation_type_IIc type PhysicalCondition114034177.
- Congenital_disorder_of_glycosylation_type_IIc type State100024720.
- Congenital_disorder_of_glycosylation_type_IIc type Disease.
- Congenital_disorder_of_glycosylation_type_IIc type Situation.
- Congenital_disorder_of_glycosylation_type_IIc comment "Congenital disorder of glycosylation type IIc or Leukocyte adhesion deficiency-2 (LAD2) is a type of leukocyte adhesion deficiency attributable to the absence of neutrophil sialyl-LewisX, a ligand of P- and E-selectin on vascular endothelium. It is associated with SLC35C1.This disorder was discovered in two unrelated Israeli boys 3 and 5 years of age, each the offspring of consanguineous parents.".
- Congenital_disorder_of_glycosylation_type_IIc label "Congenital disorder of glycosylation type IIc".
- Congenital_disorder_of_glycosylation_type_IIc sameAs m.0ch3z83.
- Congenital_disorder_of_glycosylation_type_IIc sameAs Q5160418.
- Congenital_disorder_of_glycosylation_type_IIc sameAs Q5160418.
- Congenital_disorder_of_glycosylation_type_IIc sameAs 674.
- Congenital_disorder_of_glycosylation_type_IIc sameAs Congenital_disorder_of_glycosylation_type_IIc.
- Congenital_disorder_of_glycosylation_type_IIc wasDerivedFrom Congenital_disorder_of_glycosylation_type_IIc?oldid=605894897.
- Congenital_disorder_of_glycosylation_type_IIc isPrimaryTopicOf Congenital_disorder_of_glycosylation_type_IIc.
- Congenital_disorder_of_glycosylation_type_IIc name "Congenital disorder of glycosylation type IIc".