Browse result page of "Disorder" of RareLSD
The total number entries retrieved from this search are 19| 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 |
| 1004 | Alpha Mannosidase | MAN2B1 | 3.2.1.24 | GH38 | 19p13.13 | Alpha-Mannosidosis | 12718372, 15712269, 22161967, 9158146, 9758606, 9915946 | Liver, Kidney, Spleen,Eye |
| 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 |
| 1008 | Acid lipase | LIPA | 3.1.1.13 | a/b Hydrolasefold lipase | 10q24q25 | Wolman disease (WOD) | 8146180, 8432549, 10562460 , 22138108 | Liver, Kidney, Spleen |
| 1009 | Acid lipase | LIPA | 3.1.1.13 | a/b Hydrolasefold lipase | 10q23.31 | Cholesteryl ester storage disease (CESD) | 9633819 | Liver, Kidney, Spleen |
| 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 |
| 1023 | Beta Mannosidase | MANBA | 3.2.1.25 | GH2 | 4q24 | Lysosomal beta-mannosidosis | 21873635, 20364138, 17899454, 19728872, 20332099 | Liver, Kidney, Spleen,Eye |
| 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 |
| 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 |
| 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 |
| 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 |