Browse result page of "Disorder" of RareLSD
The total number entries retrieved from this search are 17| 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 |
| 1006 | Acid alpha-glucosidase | GAA | 3.2.1.20 | GH31 | 17q25.3 | POMPE DISEASE | 388444, 7717400 | Lungs, Ear, Boness, Nervous System |
| 1011 | Acid phosphatase type 5, tartrate resistant (UTERO... | ACP5 | 3.1.3.2 | Histidine acid phosphatase | 19p13.2 | Spondyloenchondrodysplasia with immune dysregulation | 247302626, 951490 | Skin, Boness, Head,Nervous System,Lungs,Hair |
| 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 |
| 1026 | Cathepsin D | CTSD | 3.4.23.5 | peptidase A1 (Aspartic Protease) | 11-p15.5 | NCL(CLN10) | 10856224, 19159210 | Nervous System,Lungs,Eye,Muscle,Boness,Head,Nose |
| 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 |
| 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 |
| 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 |
| 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 |
| 1057 | ProXaa carboxypeptidase | PRCP | 3.4.16.2 | peptidase S28 | 11q14.1 | Sarcoidosis | 6366093, 230518 | Lungs,Eye,Skin,HEart |
| 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 |
| 1063 | Sphingomyelin phosphodiesterase | SMPD1 | 3.1.4.12 | Acid sphingomyelise | 11-p15.4 | Niemann-Pick Disease, Type a | 18815062, 12631268, 18088425 | Eye,Liver,Lungs,Muscle,Spleen,Boness,Skin,Nervous System |