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 |
|---|---|---|---|---|---|---|---|---|
| 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 |
| 1005 | N-acetylglucosamine-6-sulphatase | GALNS | 3.1.6.4 | Arylsulphatase | 16q24.3 | MPS IVA/Morquio A disease | 25545067,8434612 , 22940367, 25137622 | Ear,Head , Face,Teeth |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 1059 | Ribonuclease T2 | RNASET2 | 3.1.27.- | Rnase T2 | 6q27 | Cystic leukoencephalopathy without megalencephaly | 28658095, 3424803 | Nervous System,Head,Ear,Eye |
| 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 |