Browse result page of RareLSD
The total number entries retrieved from this search are 9| Disease_ID | Disorder | Category | ENZYME LEVEL IN PATIENT (nm/h/mg protein) | Mannose-6-Phosphate | Gene | Location |
|---|---|---|---|---|---|---|
| D_1061 | GSD II / GSD 2 (Pompe's disease ) | Glycogenosis | 0.0-0.19 | yes | GAA | cat enz |
| D_1062 | Type IIb Danon disease | Glycogenosis | nr | na | LAMP2 | protein import (other) |
| D_1063 | Type III (Amylo-1,6-Glucosidase deficiency)-Forbe’s or Cori’s disease | Glycogenosis | nr | na | AGL | na |
| D_1064 | Type IV (Branching Enzyme deficiency)-Andersons disease of Amylopectinosis | Glycogenosis | nr | na | GBE | na |
| D_1065 | Type V (Muscle Phosphorylase deficiency)-McArdle’s disease | Glycogenosis | nr | na | PYGM | na |
| D_1066 | TYPE VI (LIVER PHOSPHORYLASE DEFICIENCY)- HERS’ DISEASE | Glycogenosis | nr | na | PYGL | na |
| D_1067 | Type VII (Muscle and erythrocyte phosphofructokinase deficiency)-Taruis’ disease | Glycogenosis | nr | na | PFKM | na |
| D_1068 | Type IX (Liver and muscle phosphorylase kinase deficiency) | Glycogenosis | nr | na | PHKA2/PHKB/PHKG2/PHKA1 | na |
| D_1069 | Type X (cAMP dependent protein kinase A deficiency) | Glycogenosis | nr | na | ENO3 | na |