Browse result page of "Disorder" of RareLSD

The total number entries retrieved from this search are 6
ID1005ENZYMEN-acetylglucosamine-6-sulphataseGENEGALNSEC NUMBER3.1.6.4FAMILYArylsulphataseCYTOGENETICS16q24.3DISEASEMPS IVA/Morquio A diseaseREFERENCE25545067,8434612 , 22940367, 25137622ORGANEar,Head , Face,Teeth
ID1025ENZYMECathepsin CGENECTSCEC NUMBER3.4.14.1FAMILYpeptidase C1CYTOGENETICS11q14.1q14.3DISEASEPapillon-Lefevre syndrome (PLS)REFERENCE9092576 , 7649281ORGANTeeth ,Skin,Nervous System
ID1029ENZYMECathepsin KGENECTSKEC NUMBER3.4.22.38FAMILYPapain cysteine protease (C1)CYTOGENETICS1q21DISEASEPycnodysostosis (PKND)REFERENCE1049121 , 125731710ORGANHead,Nose,Teeth,,Boness,Skin,Hair
ID1030ENZYMECathepsin L1GENECTSL1EC NUMBER3.4.22.15FAMILYPapain cysteine protease (C1)CYTOGENETICS9q21q22DISEASEeccrine acrospiroma,gingival overgrowthREFERENCE9141479 , 8419312 , 8896443ORGANTeeth
ID1046ENZYMEIduronate 2 sulphataseGENEIDSEC NUMBER3.1.6.13FAMILYSulfataseCYTOGENETICSXq28DISEASEMPS type II (Hunter syndrome)REFERENCE1303211, 8281149, 7981716ORGANKidney,Head,Nose,Boness,Skin,Teeth,,Liver,Lungs,Hair,Spleen,Nervous System
ID1066ENZYMEFormylglycine-generating enzymeGENESUMF1EC NUMBER1.8.3.7FAMILYsulfatase-modifying factorCYTOGENETICS3p26.1DISEASEMultiple sulfatase deficiency (MSD)REFERENCE12757706, 25931126, 15907468, 12757705, 12757706, 15146462, 18157819, 21224894ORGANEar,Eye,Heart,Liver,Spleen,Skin,Bone,Teeth,Nose