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leukocyte adhesion deficiency type II

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit.
Uniprot Description A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. The clinical features of CDG2C include mental retardation, short stature, facial stigmata, and recurrent bacterial peripheral infections with persistently elevated peripheral leukocytes. Biochemically, CDG2C is characterized by a lack of fucosylated glycoconjugates, including selectin ligands.
Mondo Term and Equivalent IDs
MONDO:0009953:  leukocyte adhesion deficiency type II
GARD:0004634: 
MESH:C535755: 
NCIT:C4690: 
Orphanet:99843: 
SCTID:234583001: 
UMLS:C0398739: