Browse result page of RareLSD
The total number entries retrieved from this search are 16| Disease_ID | Disorder | Category | ENZYME LEVEL IN PATIENT (nm/h/mg protein) | Mannose-6-Phosphate | Gene | Location |
|---|---|---|---|---|---|---|
| D_1070 | Neuronal ceroid lipofuscinoses Atypical, infantile | Lipofucinosis | nr | na | CLN6 | na |
| D_1071 | Type 1 Santavuori–Haltia disease / infantile NCL | Lipofucinosis | 3.0-9.3 | na | PPT1 | cat enz |
| D_1072 | Type 2 Jansky–Bielschowsky disease / late infantile NCL | Lipofucinosis | 4.3-22.5 | yes | TPP1 | na |
| D_1073 | Type 3 Batten–Spielmeyer–Vogt disease / juvenile NCL | Lipofucinosis | nr | yes | CLN3 | TMP |
| D_1074 | Type 4 Kufs disease / adult NCL | Lipofucinosis | nr | na | CLN6 | na |
| D_1075 | Type 5 Finnish Variant / late infantile | Lipofucinosis | nr | na | CLN5 | cat enz |
| D_1076 | Type 6 Late infantile variant | Lipofucinosis | nr | na | CLN6 | na |
| D_1077 | Type 7 | Lipofucinosis | nr | na | MFSD8 | tp |
| D_1078 | Type 8 Northern epilepsy | Lipofucinosis | nr | na | CLN8 | na |
| D_1079 | Type 8 Turkish late infantile | Lipofucinosis | nr | na | CLN8 | na |
| D_1080 | Type 9 German/Serbian late infantile (unknown) | Lipofucinosis | nr | na | CLN9 | na |
| D_1081 | Type 10 Congenital cathepsin D deficiency | Lipofucinosis | nr | yes | CTSD | cat enz |
| D_1082 | Type 11 Adult variant | Lipofucinosis | nr | na | GRN | na |
| D_1083 | Type 12 Kufor–Rakeb syndrome | Lipofucinosis | nr | na | ATP13A2 | na |
| D_1084 | Type 13 Adult Kuf type | Lipofucinosis | nr | na | CTSF | na |
| D_1085 | Type 14 Progressive myoclonus epilepsy 3 | Lipofucinosis | nr | na | KCTD7 | na |