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This section gives an overview of the disease, and where available shows the following:
More information can be found in the help pages.
✖Disease ID: | 65 | |
Name: | Amyotrophic lateral sclerosis-parkinsonism-dementia complex | |
Associated with: | 2 targets |
Database Links |
OMIM:
105500 Orphanet: ORPHA90020 |
Click on the target name to link to its detailed view page
Where available, information is display on the role of the target in the disease; drugs which target the disease and their therapeutic use and side-effects.
If there is mutation data curated in GtoPdb this is indicated, with a link back to the appropriate section on the target detailed view page
Immuno ligand interactions - If available, a table of immuno-relevant ligands is shown. These ligands have been curated as having an association to the disease and possess interaction data with the target in GtoPdb. The approval status of the ligand is shown, along with curator comments and an indication of whether the target is considered the primary target of the ligand.
More information can be found in the help pages.
✖TRPM2 | |
Role: | Loss of sustained ion influx through TRPM2 might contribute to the development of the disease state |
References: | 1-2 |
Mutations: | TRPM2 is associated with 1 mutation. Click here for details |
TRPM7 | |
Role: | A defined pathophysiological role for TRPM7 has not been shown but there is a correlation of expression of the TRPM7 variant in patients with these clinical disorders. |
References: | 3 |
Mutations: | TRPM7 is associated with 1 mutation. Click here for details |
Click ligand name to view ligand summary page
Click the arrow in the final column to expand comments
More information can be found in the help pages.
✖No ligand related data available for Amyotrophic lateral sclerosis-parkinsonism-dementia complex
1. Hermosura MC, Cui AM, Go RC, Davenport B, Shetler CM, Heizer JW, Schmitz C, Mocz G, Garruto RM, Perraud AL. (2008) Altered functional properties of a TRPM2 variant in Guamanian ALS and PD. Proc Natl Acad Sci USA, 105 (46): 18029-34. [PMID:19004782]
2. Hermosura MC, Garruto RM. (2007) TRPM7 and TRPM2-Candidate susceptibility genes for Western Pacific ALS and PD?. Biochim Biophys Acta, 1772 (8): 822-35. [PMID:17395433]
3. Hermosura MC, Nayakanti H, Dorovkov MV, Calderon FR, Ryazanov AG, Haymer DS, Garruto RM. (2005) A TRPM7 variant shows altered sensitivity to magnesium that may contribute to the pathogenesis of two Guamanian neurodegenerative disorders. Proc Natl Acad Sci USA, 102 (32): 11510-5. [PMID:16051700]