Browse result page of "Disorder" of RareLSD
The total number entries retrieved from this search are 22| 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 |
| 1003 | Alpha L-iduronidase | IDUA | 3.2.1.76 | GH39 | 4p16.3 | MPS type I (Hurler and Scheie syndromes) | 12559846, 10735634, 21394825, 7550242, 25256405 | Skin, Boness, Head, Liver , Spleen |
| 1004 | Alpha Mannosidase | MAN2B1 | 3.2.1.24 | GH38 | 19p13.13 | Alpha-Mannosidosis | 12718372, 15712269, 22161967, 9158146, 9758606, 9915946 | Liver, Kidney, Spleen,Eye |
| 1006 | Acid alpha-glucosidase | GAA | 3.2.1.20 | GH31 | 17q25.3 | POMPE DISEASE | 388444, 7717400 | Lungs, Ear, Boness, Nervous System |
| 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 |
| 1013 | Alpha-N-acetylgalactosaminidase | NAGA | 3.2.1.49 | GH 27 | 22q13.4 | Kanzaki disease(type II) | 19683538 | Eye,Boness, Nervous System,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 |
| 1015 | Alphacetylglucosaminidase | NAGLU | 3.2.1.50 | GH89 | 17q21.2 | Sanfilippo syndrome type B,CharcotMarieTooth disease | 9443875, 1376807 | 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 |
| 1021 | Beta Hexosaminidase alpha-subunit | HEXA | 3.2.1.52 | GH20 | 15q23 | GM2gangliosidosis type I (TaySach's disease) | 7898712 , 19858779 , 9603435 | Nervous System,Lungs,Eye |
| 1022 | Beta Hexosaminidase beta-subunit | HEXB | 3.2.1.52 | GH20 | 5q13.3 | GM2gangliosidosis type II (Sandhoff disease) | 23290073, 1531140, 1720305, 7557963, 7633435, 9694901, 9401004 | Nervous System,Lungs,Eye,Muscle,Skin |
| 1023 | Beta Mannosidase | MANBA | 3.2.1.25 | GH2 | 4q24 | Lysosomal beta-mannosidosis | 21873635, 20364138, 17899454, 19728872, 20332099 | Liver, Kidney, Spleen,Eye |
| 1035 | Chitotriosidase1 | CHIT1 | 3.2.1.14 | GH18 | 1q32.1 | chitotriosidase deficiency,Gaucher's disease | 9748235, 17464953, 19725875 | NA |
| 1037 | Dicetylchitobiase | CTBS | 3.4.22.1 | GH18 | 1-p22.3 | Focal Hand Dystonia,Hypomyeliting Leukodystrophy | 19930869 , 1637335, 8112600 | Nervous System,Eye,Muscle |
| 1038 | Galactocerebrosidase | GALC | 3.2.1.46 | GH59 | 14q31.3 | Krabbe disease (globoid cell leukodystrophy) | 3094585, 507819, 42440, 3934152 | Nervous System,Eye,Ear |
| 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 |
| 1044 | Heparanase | HPSE | 3.2.1.166 | GH79 | 4q21.23 | Urofacial Syndrome 1 | 21332471 , 17489495, 27855655 | Kidney,Head |
| 1045 | Hyaluronidase 1 | HYAL1 | 3.2.1.35 | GH 56 | 3p21.31 | Mucopolysaccharidosis 9(MPS9) | 16600643, 10339581, 17503783, 10702795 | Nose,Boness,Skin |
| 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 |