Browse result page of "Disorder" of RareLSD
The total number entries retrieved from this search are 8| 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 |
| 1004 | Alpha Mannosidase | MAN2B1 | 3.2.1.24 | GH38 | 19p13.13 | Alpha-Mannosidosis | 12718372, 15712269, 22161967, 9158146, 9758606, 9915946 | Liver, Kidney, Spleen,Eye |
| 1008 | Acid lipase | LIPA | 3.1.1.13 | a/b Hydrolasefold lipase | 10q24q25 | Wolman disease (WOD) | 8146180, 8432549, 10562460 , 22138108 | Liver, Kidney, Spleen |
| 1009 | Acid lipase | LIPA | 3.1.1.13 | a/b Hydrolasefold lipase | 10q23.31 | Cholesteryl ester storage disease (CESD) | 9633819 | Liver, Kidney, Spleen |
| 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 |
| 1023 | Beta Mannosidase | MANBA | 3.2.1.25 | GH2 | 4q24 | Lysosomal beta-mannosidosis | 21873635, 20364138, 17899454, 19728872, 20332099 | Liver, Kidney, Spleen,Eye |
| 1044 | Heparanase | HPSE | 3.2.1.166 | GH79 | 4q21.23 | Urofacial Syndrome 1 | 21332471 , 17489495, 27855655 | Kidney,Head |
| 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 |