Browse result page of "Disorder" of RareLSD
The total number entries retrieved from this search are 12| ID | ENZYME | GENE | EC NUMBER | FAMILY | CYTOGENETICS | DISEASE | REFERENCE | ORGAN |
|---|---|---|---|---|---|---|---|---|
| 1011 | Acid phosphatase type 5, tartrate resistant (UTERO... | ACP5 | 3.1.3.2 | Histidine acid phosphatase | 19p13.2 | Spondyloenchondrodysplasia with immune dysregulation | 247302626, 951490 | Skin, Boness, Head,Nervous System,Lungs,Hair |
| 1012 | Alpha-N-acetylgalactosaminidase | NAGA | 3.2.1.49 | GH 27 | 22q13.3 | Schindler disease (type I) | 19683538 | Skin,Hair,Eye,Nervous System,Nose,Ear,Muscle |
| 1014 | Alpha-N-acetylgalactosaminidase | NAGA | 3.2.1.49 | GH 27 | 22q13.5 | Schindler disease(type III) | 8782044 | Ear,Eye,HEart,Boness,Liver,Spleen,Hair,Nervous System |
| 1017 | Arylsulphatase B | ARSB | 3.1.6.12 | Arylsulphatase | 5q14.1 | Mucopolysaccharidosis 6 (MPS6)/MAROTEAUXLAMY SYNDR... | 15324318 , 1901688 , 4276101 | Ear,Eye,HEart,Boness,Liver,Spleen,Hair,Head,Nervous System |
| 1019 | Beta Galactosidase 1 | GLB1 | 3.2.1.23 | GH35 | 3p22.3 | GM1gangliosidis, MPS type IVB (Morquio syndrome) | 17309651 , 17664528 , 16538002 | Ear,Eye,HEart,Boness,Liver,Spleen,Hair,Head,Nervous System |
| 1020 | Beta Glucuronidase | GUSB | 3.2.1.31 | GH2 | 7q11.21 | MPS type VII (Sly syndrome) | 16272959 , 12522561 , 3468507 | Ear,Skin,Eye,HEart,Boness,Liver,Lungs,Hair,Nervous System,Kidney,Spleen |
| 1029 | Cathepsin K | CTSK | 3.4.22.38 | Papain cysteine protease (C1) | 1q21 | Pycnodysostosis (PKND) | 1049121 , 125731710 | Head,Nose,Teeth,,Boness,Skin,Hair |
| 1041 | Glucosylceramidase | GBA | 3.2.1.45 | GH30 | 1q22 | Gaucher disease Type 1 | 1070017, 7172089, 5425955, 3927701 | Eye,Boness,Liver,Lungs,Hair,Spleen,Nose,Skin |
| 1043 | Heparaglucosaminide Nacetyltransferase (TMEM76) | HGSNAT | 2.3.1.78 | Acetyltransfersases | 8p11.21-p11.1 | Mucopolysaccharidosis type IIIC | 676018, 20583299 , 3090688 | HEart,Hair,Muscle,Boness,Nervous System,Lungs,Spleen,Liver,Eye,Ear,Nose |
| 1046 | Iduronate 2 sulphatase | IDS | 3.1.6.13 | Sulfatase | Xq28 | MPS type II (Hunter syndrome) | 1303211, 8281149, 7981716 | Kidney,Head,Nose,Boness,Skin,Teeth,,Liver,Lungs,Hair,Spleen,Nervous System |
| 1052 | N-acetylglucosamine-6-sulphatase | GNS | 3.1.6.14 | sulfatase | 12q14.3 | Mucopolysaccharidosis, Type Iiid | 12573255, 6450420, 19650410 | Head,Nose,Boness,Skin,Ear,Eye,Liver,Lungs,Hair,Spleen,Nervous System,HEart |
| 1053 | N-sulphoglucosamine sulphohydrolase | SGSH | 3.10.1.1 | sulphatase | 17q25.3 | MPS type IIIA (Sanfilippo syndrome A) | 18407553, 11793481, 15902564 | HEart,Ear,Eye,Liver,Spleen,Boness,Hair,Nervous System |