Browse result page of "Disorder" of RareLSD
The total number entries retrieved from this search are 16| ID | ENZYME | GENE | EC NUMBER | FAMILY | CYTOGENETICS | DISEASE | REFERENCE | ORGAN |
|---|---|---|---|---|---|---|---|---|
| 1001 | Alpha galactosidase A | GLA | 3.2.1.22 | GH27 | Xq22.1 | Fabry's Disease | 704691, 19621417, 3009617,17391432 | Kidney, Heart,Eye,Skin,Muscle,Boness,Nervous System,Lungs |
| 1002 | Alpha L-Fucosidase, tissue | FUCA1 | 3.2.1.51 | GH29 | 1-p36.11 | Fucosidosis | 9762612, 10094192, 8399358, 2903668 | Ear,Nose,Eye,Boness,Nervous System,Lungs,Nervous System,HEart |
| 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 |
| 1042 | N-acetylglucosamine-1-phosphotransferasesubunits a... | GNPTAB | 2.7.8.17 | Stealth | 12q23.2 | Mucolipidosis Iii Alpha/Beta | 23733939, 25505245, 21719679, 16200072, 16835905, 19197337, 19617216, 19634183, 16094673, 16465621, 16630736, 17034777, 19197337, 19617216, 19634183, 19938078 | Head,Heart,Spleen,Liver,Lung,Eye |
| 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 |
| 1051 | N(4) (beta-acetylglucosaminyl) L-asparaginase | AGA | 3.5.1.26 | Ntn-hydrolase | 4q34.3 | Aspartylglucosaminuria | 11309371, 2401370 | HEart,Muscle,Boness,Nervous System,Lungs,Liver,Eye,Ear,Nose,Head |
| 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 |
| 1057 | ProXaa carboxypeptidase | PRCP | 3.4.16.2 | peptidase S28 | 11q14.1 | Sarcoidosis | 6366093, 230518 | Lungs,Eye,Skin,HEart |
| 1058 | Protective protein (cathepsin A) | CTSA | 3.4.16.5 | peptidase S10 | 20q13.12 | Galactosialidosis | 23915561, 6812049, 19097920 | Nervous System,Boness,Skin,HEart,Ear |
| 1061 | Sialidase1 | NEU1 | 3.2.1.18 | GH33 | 6p21.33 | Sialidosis (mucolipidosis type I) | 8985184, 25153125, 19666471, 29693572 | Head,Nose,Boness,Skin,Ear,Eye,Liver,Lungs,Muscle,Spleen,Nervous System,HEart |
| 1062 | Sialidase4 | NEU4 | 3.2.1.18 | GH33 | 2q37.3 | Galactosialidosis | 15885103, 15213228, 4027547 | Nervous System,HEart,Skin,Boness,Ear |
| 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 |