Browse result page of "Disorder" of RareLSD
The total number entries retrieved from this search are 38| 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 |
| 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 |
| 1010 | Acid phosphatase | ACP2 | 3.1.3.2 | Histidine acid phosphatase | 11-p11.2 | ACID PHOSPHATASE DEFICIENCY | 4139985 , 17357082 ,11801736 | 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 |
| 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 |
| 1016 | Arylsulphatase A | ASRA | 3.1.6.8 | Arylsulphatase | 22q13.33 | Metachromatic leukodystrophy (MLD) | 7906588,8095918,7815433 ,9521684 | Eye,Nervous System,Muscle |
| 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 |
| 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 |
| 1025 | Cathepsin C | CTSC | 3.4.14.1 | peptidase C1 | 11q14.1q14.3 | Papillon-Lefevre syndrome (PLS) | 9092576 , 7649281 | Teeth ,Skin,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 |
| 1027 | Cathepsin F | CTSF | 3.4.22.41 | Papain cysteine protease(C1) | 11q13.1q13.3 | Adult Onset Ceroid lipofuscinosis (Ceroid Lipofuscinosis, Neuronal, 13, Kufs Type) | 23297359 | Nervous System |
| 1028 | Cathepsin H | CTSH | 3.4.22.16 | Papain cysteine protease (C1) | 15q24q25 | Thyroid crisis,Narcolepsy 1. | 2587265, 11796715, | Nervous System |
| 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 |
| 1040 | Ganglioside GM2 activator | GM2A | 3.2.1.52 | Ntn-hydrolase | 5q33.1 | Gm2-Gangliosidosis, Ab Variant | 14702039, 1915857, 8900233 | Nervous System,Eye,Muscle |
| 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 |
| 1047 | L-Aminoacid oxidase | IL4I1 | 1.4.3.2 | Flavin monoamine oxidase | 19q13.33 | Infantile Striatonigral Degeneration | 10944103, 19689417 | Nervous System,Eye, |
| 1050 | Myeloperoxidase | MPO | 1.11.2.2 | Peroxidase | 17q22 | Myeloperoxidase deficiency | 19544176, 19651119, 17479404 | Nervous System,Skin |
| 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 |
| 1055 | Palmitoylprotein thioesterase 2 | PPT2 | 3.1.2.22 | palmitoylprotein thioesterase | 6p21.32 | Neuronal Ceroid Lipofuscinosis & Narcolepsy | 12855696, 10051407, 10417332 | Nervous System |
| 1058 | Protective protein (cathepsin A) | CTSA | 3.4.16.5 | peptidase S10 | 20q13.12 | Galactosialidosis | 23915561, 6812049, 19097920 | Nervous System,Boness,Skin,HEart,Ear |
| 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 |
| 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 |
| 1065 | Tripeptidylpeptidase I | TPPI | 3.4.14.9 | peptidase S53 domain | 11-p15.4 | Neuronal Ceroid Lipofuscinosis2,Autosomal Recessive | 9653647, 23418007 | Eye,Nervous System |