Neuronal ceroid lipofuscinosis
From SNPedia
Neuronal ceroid lipofuscinosis is a family of neurodegenerative disorders from accumulation of lipopigments.
There 10 known types, many linked to specific genes, several of which are named for their disease type: CLN3,5,6-8.
| Type | Name | OMIM | Gene |
| Type 1 | Infantile NCL (Santavuori-Haltia disease, INCL) | 256730 | PPT1 |
| Type 2 | Late Infantile NCL (Jansky-Bielschowsky disease, LINCL) | 204500 | TPP1 |
| Type 3 | Juvenile NCL (Batten disease, JNCL) | 204200 | CLN3 |
| Type 4 | Adult NCL (Kufs disease, ANCL) | 204300 | CLN6 DNAJC5 |
| Type 5 | Finnish Late Infantile (Finnish Late Infantile Variant, vLINCL) | 256731 | CLN5 |
| Type 6 | Variant Late Infantile (Late Infantile Variant, vLINCL) | 601780 | CLN6 |
| Type 7 | CLN7 | 610951 | CLN7 |
| Type 8 | Northern Epilepsy, progressive epilepsy with mental retardation (EPMR) | 610003 | CLN8 |
| Type 8 | Turkish Late Infantile (Turkish Late Infantile Variant,vLINCL) | 600143 | CLN8 |
| Type 9 | Identified in Germany and Serbia. | 609055 | Unknown |
| Type 10 | Congenital, Cathepsin D Deficiency | 116840 | CTSD |
