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Entry Name Description Category Pathway Gene
H00122 Multiple exostoses Hereditary multiple exostoses syndrome is the most frequent glycosylation defect, which is characterized by benign osteochondromas on the ends of long bones. Inherited metabolic disease; Connective tissue disease hsa00534 Glycosaminoglycan biosynthesis - heparan sulfate / heparin EXT1; glucuronyl/N-acetylglucosaminyl transferase EXT1 [HSA:2131] [KO:K02366]
EXT2; glucuronyl/N-acetylglucosaminyl transferase EXT2 [HSA:2132] [KO:K02367]
H00493 Heparan sulfate proteoglycan gene defects Defects in heparan sulfate proteoglycans (HSPGs), which present in cartilage, are associated with skeletal growth disorders. Mutations in either HS biosynthetic enzymes or HS proteoglycan core proteins ... Congenital malformation (Silverman-Handmaker, Schwartz-Jampel) HSPG2 [HSA:3339] [KO:K06255]
(Simpson-Golabi-Behmel) GPC3 [HSA:2719] [KO:K08109]
(Omodysplasia 1) GPC6 [HSA:10082] [KO:K08112]
(Multiple exostoses) EXT1 [HSA:2131] [KO:K02366]
(Multiple exostoses) EXT2 [HSA:2132] [KO:K02367]
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