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.
Attributes | Values |
---|
rdf:type
| |
rdfs:label
| - Congenital disorder of glycosylation type IIc (en)
- Leukozytenadhäsionsdefekt Typ II (de)
- Niedobór leukocytarnych cząstek adhezyjnych typu II (pl)
|
rdfs:comment
| - Niedobór leukocytarnych cząstek adhezyjnych typu II in. zespół Rambon-Hasharon, wrodzone zaburzenia glikozylacji typu IIc (ang. leukocyte adhesion deficiency type II, Rambon-Hasharon syndrome, congenital disorder of glycosylation, type IIc, CDG syndrome type IIc, LAD-II, CDG-IIc, CDG2C) – genetycznie uwarunkowany zespół wad wrodzonych, dziedziczony autosomalnie recesywnie, charakteryzujący się niskim wzrostem, niepełnosprawnością intelektualną, nawracającymi zakażeniami bakteryjnymi oraz obecnością fenomenu bombajskiego. (pl)
- Der Leukozytenadhäsionsdefekt Typ II (LAD-II) ist eine sehr seltene, zu den Leukozytenadhäsionsdefekten gehörige angeborene Erkrankung mit den Hauptmerkmalen rezidivierende bakterielle Infektionen, starke Wachstumsverzögerung, Kleinwuchs und schwerer intellektueller Defizit. Die Erkrankung gehört zu den kongenitalen Glykosylierungs-Krankheiten (CDG), daher auch die Bezeichnung CDG IIc. Synonyme sind: Kongenitaler Defekt der Glycoproteinbiosynthese Typ IIc; CDG-Syndrom Typ IIc ; CDG IIc; CDG2C; Rambam-Hasharon-Syndrom; SLC35C1-CDG (de)
- 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. (en)
|
foaf:name
| - Congenital disorder of glycosylation type IIc (en)
|
name
| - Congenital disorder of glycosylation type IIc (en)
|
foaf:depiction
| |
dcterms:subject
| |
Wikipage page ID
| |
Wikipage revision ID
| |
Link from a Wikipage to another Wikipage
| |
sameAs
| |
dbp:wikiPageUsesTemplate
| |
thumbnail
| |
ICD
| |
OMIM
| |
Orphanet
| |
caption
| - This condition ia inherited via autosomal recessive manner (en)
|
synonyms
| - Rambam-Hasharon syndrome, CDG-IIc, CDG2C (en)
|
has abstract
| - Der Leukozytenadhäsionsdefekt Typ II (LAD-II) ist eine sehr seltene, zu den Leukozytenadhäsionsdefekten gehörige angeborene Erkrankung mit den Hauptmerkmalen rezidivierende bakterielle Infektionen, starke Wachstumsverzögerung, Kleinwuchs und schwerer intellektueller Defizit. Die Erkrankung gehört zu den kongenitalen Glykosylierungs-Krankheiten (CDG), daher auch die Bezeichnung CDG IIc. Synonyme sind: Kongenitaler Defekt der Glycoproteinbiosynthese Typ IIc; CDG-Syndrom Typ IIc ; CDG IIc; CDG2C; Rambam-Hasharon-Syndrom; SLC35C1-CDG Die Erstbeschreibung stammt aus dem Jahre 1992 durch die israelischen Ärzte Moshe Frydman, Amos Etzioni, Tal Eidlitz-Markus und Mitarbeiter. Die Namensbezeichnung bezieht sich auf die Wohnorte der ersten beiden Betroffenen. (de)
- 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, periodontitis, 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. (en)
- Niedobór leukocytarnych cząstek adhezyjnych typu II in. zespół Rambon-Hasharon, wrodzone zaburzenia glikozylacji typu IIc (ang. leukocyte adhesion deficiency type II, Rambon-Hasharon syndrome, congenital disorder of glycosylation, type IIc, CDG syndrome type IIc, LAD-II, CDG-IIc, CDG2C) – genetycznie uwarunkowany zespół wad wrodzonych, dziedziczony autosomalnie recesywnie, charakteryzujący się niskim wzrostem, niepełnosprawnością intelektualną, nawracającymi zakażeniami bakteryjnymi oraz obecnością fenomenu bombajskiego. (pl)
|
gold:hypernym
| |
prov:wasDerivedFrom
| |
page length (characters) of wiki page
| |
ICD10
| |
OMIM id
| |
ORPHA
| |
foaf:isPrimaryTopicOf
| |
is Link from a Wikipage to another Wikipage
of | |
is Wikipage redirect
of | |
is foaf:primaryTopic
of | |