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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 1024 | Cathepsin B | CTSB | 3.4.22.1 | peptidase C1 | 8p23.1 | Keratolytic winter erythema | 11896452 , 24300638 | Skin |
| 1025 | Cathepsin C | CTSC | 3.4.14.1 | peptidase C1 | 11q14.1q14.3 | Papillon-Lefevre syndrome (PLS) | 9092576 , 7649281 | Teeth ,Skin,Nervous System |
| 1029 | Cathepsin K | CTSK | 3.4.22.38 | Papain cysteine protease (C1) | 1q21 | Pycnodysostosis (PKND) | 1049121 , 125731710 | Head,Nose,Teeth,,Boness,Skin,Hair |
| 1031 | Cathepsin O | CTSO | 3.4.22.42 | Papain cysteine protease (C1) | 4q31q32 | Breast Neoplasms | 9790772 , 28514442 , 7929457 | Skin |
| 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 |
| 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 |
| 1050 | Myeloperoxidase | MPO | 1.11.2.2 | Peroxidase | 17q22 | Myeloperoxidase deficiency | 19544176, 19651119, 17479404 | Nervous System,Skin |
| 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 |
| 1058 | Protective protein (cathepsin A) | CTSA | 3.4.16.5 | peptidase S10 | 20q13.12 | Galactosialidosis | 23915561, 6812049, 19097920 | Nervous System,Boness,Skin,HEart,Ear |
| 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 |