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Tabelle aller Lysosomalen Speicherkrankheiten
Lysosomalen Speicherkrankheiten und deren Unterteilung
| Syndrom | Enzym/Transporter | Chromosom | Häufigkeit |
| Mukopolysaccaridosen | |||
| Hurler Syndrom (MPS I-H) | α-L-Iduronidase | 4q16.3 | 1:175.000 |
| Scheie-Krankheit (MPS I-S) | α-L-Iduronidase | 4q16.3 | 1:500.000 |
| Hurler-Scheie-Syndrom (MPS I-H/S) | α-L-Iduronidase | 4q16.3 | 1:435.000 |
| Hunter-Syndrom (MPS II) | Iduronat-2-Sulfatase | Xq27.3-28 | 1:136.000 |
| Sanfilippo-Syndrom Typ A (MPS IIIA) | Heparansulfatsulfamidase (SGSH) | 17q25.3 | 1:114.000 |
| Sanfilippo-Syndrom Typ B (MPS IIIB) | α-N-Acetylglukoseamidase (NAGLU) | 17q21 | 1:211.000 |
| Sanfilippo-Syndrom Typ C (MPS IIIC) | Acetyl-CoA α-Glukosaminid-N-Acetyltransferase (HGSNAT) | 8p11.1 | 1:1.407.000 |
| Sanfilippo-Syndrom Typ D (MPS IIID) | N-Acetyl-Glukosamin-6-Sulfatsulfatase (GNS) | 12q14 | 1:1.056.000 |
| Morquio-Syndrom Typ A (MPS IVA) | N-Acetyl-Glukosamin-6-Sulfatsulfatase | 16q24.3 | 1:169.000 |
| Morquio-Syndrom Typ B (MPS IVB) | β-Galactosidase | 3p21.3 | |
| Morquio-Syndrom Typ C (MPS IVC) | |||
| Maroteaux-Lamy-Syndrom (MPS VI) | Arylsulfatase B | 5q11-13 (ARSB) | 1:235.000 |
| Sly-Syndrom (MPS VII) | β-Glucuronidase | 7q21.1-11 | 1:2.111.000 |
| Mukolipidosen(ML) | |||
| Sialidose Typ II (ML Typ I) | Neuraminidase | 6p21.3 | 1:>4.200.000 |
| I-Zellkrankheit (ML Typ IIα/β) | Phosphotransferase | 12q23.3 (GNPTAB) | 1:330.000 (inkl. ML III) |
| Pseudo-Hurler Polydystrophie (ML Typ IIIα/β) | Phosphotransferase | 12q23.3 (GNPTAB) | 1:330.000 (inkl. ML II) |
| Sialolipidose (ML Typ IV) | Mucolipin-1 | 19p13.3-p13.2 (MCOLN1) | |
| Sphingolipidosen | |||
| GM1-Gangliosidose Typ I | β-Galactosidase | 3p21.3 (GLB1) | 1:384.000 (Typ I, II + III) |
| GM1-Gangliosidose Typ II | β-Galactosidase | 3p21.3 | 1:384.000 (Typ I, II + III) |
| GM1-Gangliosidose Typ III | β-Galactosidase | 3p21.3 | 1:384.000 (Typ I, II + III) |
| Tay-Sachs-Syndrom | β-Hexosaminidase A | 15q23-24 (HEXA) | 1:320.000 |
| Sandhoff-Krankheit | β-Hexosaminidase A & B | 5q13 (HEXB) | 1:130.000 |
| Tay-Sachs-Syndrom AB Variante (GM2-Aktivator-Mangel) | GM2-Aktivator | 5q31.3-q33.1 | |
| Morbus Fabry | α-Galactosidase | Xq22 (GLA) | 1:117.000 |
| Morbus Gaucher Typ I | Glucocerebrosidase | 1q22 (GBA) | 1:57.000 (alle Morbus Gaucher zusammen) |
| Morbus Gaucher Typ II | Glucocerebrosidase | 1q22 (GBA) | 1:57.000 (alle Morbus Gaucher zusammen) |
| Morbus Gaucher Typ III | Glucocerebrosidase | 1q22 (GBA) | 1:57.000 (alle Morbus Gaucher zusammen) |
| Morbus Gaucher Typ IIIC | Glucocerebrosidase | 1q22 (GBA) | 1:57.000 (alle Morbus Gaucher zusammen) |
| Morbus Gaucher perinatal letal | Glucocerebrosidase | 1q22 (GBA) | 1:57.000 (alle Morbus Gaucher zusammen) |
| Metachromatische Leukodystrophie (MLD) | Arylsulfatase A | 22q13.3 (ARSA) | 1:92.000 |
| Saposin-B-Mangel | Saposin B | 10q22.1 (PSAP) | |
| Morbus Krabbe | Galactosylceramidase | 14q31 (GALC) | 1:201.000 |
| Morbus Krabbe atypisch, SAPOSIN-A-Mangel | Saposin A | 10q22.1 (PSAP) | |
| Niemann-Pick-Krankheit Typ A | Sphingomyelinase | 11p15.4-p15.1 (SMPD1) | 1:218.000 (A+B zusammen) |
| Niemann-Pick-Krankheit Typ B | Sphingomyelinase | 11p15.4-p15.1 (SMPD1) | 1:218.000 (A+B zusammen) |
| Niemann-Pick-Krankheit Typ C1 | NPC1-Protein | 18q11-q12 (NPC1) | 1:211.000 |
| Niemann-Pick-Krankheit Typ C2 | NPC2-Protein | 1424.3 (NPC2) | |
| Morbus Gaucher Saposin-C-Mangel | Saposin C | 10q22.1 (PSAP) | |
| Farber-Syndrom | saure Ceramidase | 8p22-p21.3 (ASAH) | |
| Multipler Sulfatase-Mangel | Fgly-Generating Enzyme | 3p26 (SUMF1) | 1:407.000 |
| Oligosaccharidosen |
|||
| α-Mannosidose | α-Mannosidase | 19cen-q12 (MAN2B1) | 1:1.056.000 |
| β-Mannosidose | β-Mannosidase | 4q22-q25 (MANBA) | |
| Fukosidose | α-Fucosidase | 1p34 (FUCA1) | 1:2.000.000 |
| Aspartylglukosaminurie | Aspartylglukosaminurie | 4q32-33 (AGA) | 1:2.111.000 |
| Morbus Schindler Typ I | α-Galactosaminidase | 22q11 (NAGA) | 1:528.000 |
| Sialinsäure-Speicherkrankheit infantil (ISSD) | Sialinsäure-Transporter (Sialin) | 6q14-15 (SLC17A5) | 1:500.000 |
| Sialinsäure-Speicherkrankheit adult (Salla-Krankheit) | Sialinsäure-Transporter (Sialin) | 6q14-15 (SLC17A5) | 1:500.000 |
| Galaktosialidose (Goldberg-Syndrom) | Protektives Protein | 20q13.1 (GLB2) | |
| Neuronale Ceroid-Lipofuszinosen | |||
| Neuronale Ceroid-Lipofuszinose 1 | Palmitoyl-Thio-Esterase | 1p32 (CLN1) | |
| Neuronale Ceroid-Lipofuszinose 2 | Tripeptidyl-Peptidase 1 | 11p15.5 (TPP1) | |
| Neuronale Ceroid-Lipofuszinose 3 (Batten-Syndrom) | |||
| Neuronale Ceroid-Lipofuszinose 4A | |||
| Neuronale Ceroid-Lipofuszinose 4B | |||
| Neuronale Ceroid-Lipofuszinose 5 | 13q21.1-q32 (CLN5) | ||
| Neuronale Ceroid-Lipofuszinose 6 | 15q21-q23 (CLN6) | ||
| Neuronale Ceroid-Lipofuszinose 7 | 4q28.1-q28.2 (MFSD8) | ||
| Neuronale Ceroid-Lipofuszinose 8 | 8p23 (CLN8) | ||
| Neuronale Ceroid-Lipofuszinose 8 (nordische Epilepsie) | 8p23 (CLN8) | ||
| Neuronale Ceroid-Lipofuszinose 9 | |||
| Neuronale Ceroid-Lipofuszinose 10 | 11p15.5 (CTSD) | ||
| Andere | |||
| Pyknodysostose | Cathepsin K | 1q21 (CTSK) | 1:146.000 |
| Morbus Pompe | Lysosomale α-Glucosidase | 17q25.2-3 (GAA) | 1:192.000 |
| Cystinose, nephropatisch | Cystin-Transporter | 17p13 (CTNS) | 1:528.000 |
| Cystinose, adulte, nicht nephropatisch | Cystin-Transporter | 17p13 (CTNS) | 1:528.000 |
| Wolman-Krankheit/CESD | lysosomale saure Lipase | 10q23.2–23.3 (LIPA) | 1:700.000 |