Browse result page of "Disorder" of RareLSD
The total number entries retrieved from this search are 29| 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 |
| 1006 | Acid alpha-glucosidase | GAA | 3.2.1.20 | GH31 | 17q25.3 | POMPE DISEASE | 388444, 7717400 | Lungs, Ear, Boness, Nervous System |
| 1007 | N-acetylsphingosine amidohydrolase (acid ceramidas... | ASAH1 | 3.5.1.23 | Acid ceramidase | 8p22 | Farber lipogranulomatosis | 23707712, 22565078, 23707712 | Eye,Liver, Spleen,Skin,Bones,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 |
| 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 |
| 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 |
| 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 |
| 1029 | Cathepsin K | CTSK | 3.4.22.38 | Papain cysteine protease (C1) | 1q21 | Pycnodysostosis (PKND) | 1049121 , 125731710 | Head,Nose,Teeth,,Boness,Skin,Hair |
| 1036 | Deoxyribonuclease 2 alpha | DNASE2 | 3.1.22.1 | Dse II f | 19p13.13 | calcific tendinitis | 18812394, 15057824, 12558498 | Boness |
| 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 |
| 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 |
| 1045 | Hyaluronidase 1 | HYAL1 | 3.2.1.35 | GH 56 | 3p21.31 | Mucopolysaccharidosis 9(MPS9) | 16600643, 10339581, 17503783, 10702795 | Nose,Boness,Skin |
| 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 |
| 1049 | Natriuretic Peptide Receptor B/Guanylate Cyclase B | NPR2 | 4.6.1.2 | adenylyl cyclase class-4/guanylyl cyclase | 9p13.3 | Acromesomelic Dysplasia-Maroteaux Type | 15146390, 17652215, 26980729 | Head,Bones & Joints |
| 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 |
| 1054 | Palmitoylprotein thioesterase 1 | PPT1 | 3.1.2.22 | palmitoylprotein thioesterase | 1-p34.2 | NCL (CLN1) | 25253854, 25233404, 23581634, 9648881, 24997880247... | Nervous System,Boness,Head,Eye |
| 1058 | Protective protein (cathepsin A) | CTSA | 3.4.16.5 | peptidase S10 | 20q13.12 | Galactosialidosis | 23915561, 6812049, 19097920 | Nervous System,Boness,Skin,HEart,Ear |
| 1060 | Sialate O-acetylesterase | SIAE | 3.1.1.53 | Hydrolyases | 11q24.2 | Autoimmune disease 6 (AIS6) | 20555325 , 14702039, 551583, 2626685, 2900412 | Boness |
| 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 |
| 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 |
| 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 |