Browse result page of "Disorder" of RareLSD
The total number entries retrieved from this search are 6| ID | ENZYME | GENE | EC NUMBER | FAMILY | CYTOGENETICS | DISEASE | REFERENCE | ORGAN |
|---|---|---|---|---|---|---|---|---|
| 1005 | N-acetylglucosamine-6-sulphatase | GALNS | 3.1.6.4 | Arylsulphatase | 16q24.3 | MPS IVA/Morquio A disease | 25545067,8434612 , 22940367, 25137622 | Ear,Head , Face,Teeth |
| 1025 | Cathepsin C | CTSC | 3.4.14.1 | peptidase C1 | 11q14.1q14.3 | Papillon-Lefevre syndrome (PLS) | 9092576 , 7649281 | Teeth ,Skin,Nervous System |
| 1029 | Cathepsin K | CTSK | 3.4.22.38 | Papain cysteine protease (C1) | 1q21 | Pycnodysostosis (PKND) | 1049121 , 125731710 | Head,Nose,Teeth,,Boness,Skin,Hair |
| 1030 | Cathepsin L1 | CTSL1 | 3.4.22.15 | Papain cysteine protease (C1) | 9q21q22 | eccrine acrospiroma,gingival overgrowth | 9141479 , 8419312 , 8896443 | Teeth |
| 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 |
| 1066 | Formylglycine-generating enzyme | SUMF1 | 1.8.3.7 | sulfatase-modifying factor | 3p26.1 | Multiple sulfatase deficiency (MSD) | 12757706, 25931126, 15907468, 12757705, 12757706, 15146462, 18157819, 21224894 | Ear,Eye,Heart,Liver,Spleen,Skin,Bone,Teeth,Nose |