Browse result page of "Disorder" of RareLSD
The total number entries retrieved from this search are 5| 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 |
| 1016 | Arylsulphatase A | ASRA | 3.1.6.8 | Arylsulphatase | 22q13.33 | Metachromatic leukodystrophy (MLD) | 7906588,8095918,7815433 ,9521684 | Eye,Nervous System,Muscle |
| 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 |
| 1018 | Arylsulphatase G | ARSG | 3.1.6.- | Arylsulphatase | 17q24.2 | scotoma | 12461688 , 18283100 , 25825126 | Eye |
| 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 |