Major affective disorder 1; MAFD1
GtoPdb Disease Summaries
This section gives an overview of the disease, and where available shows the following:
- Synonyms: Shows known synonyms for the disease.
- Description: Gives a basic description/definition of the disease.
- Database Link: External links to the same disease at the Disease Ontology, OMIM or Orphanet sites.
- Immunopharmacology comments: General comments about the target's role in immunopharmacology, provided by GtoImmuPdb curators.
- Associated with: Counts are displayed for the total targets the disease is associated with in GtoPdb. The counts of targets and ligands of immunological relevance associated to the disease are also shown.
More information can be found in the help pages.
✖| Disease ID: | 147 | |
| Name: | Major affective disorder 1; MAFD1 | |
| Associated with: | 5 targets | |
Targets
GtoPdb Disease Summaries - Targets
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.
✖| D3 receptor | |
| Role: | The Ba1I polymorphism has been associated with bipolar disorder |
| References: | 3 |
| 5-HT3A | |
| Comments: | A significant association between the 5'untranslated region (UTR)variant c.-42 C>T (=C178T) in patients with bipolar disorder compared to healthy controls has been demonstated. Luciferase reporter assays revealed a significant up-regulation of gene expression on protein level. This variant in HTR3A may represent a functional variant and affect the susceptibility to bipolar disorder. |
| References: | 2 |
| Mutations: | 5-HT3A is associated with 1 mutation. Click here for details  |
| 5-HT3B | |
| Comments: | This deletion in the promotor region of the HTR3B gene is underrepresented in a sample of patients suffering from bipolar depression. |
| References: | 1 |
| Mutations: | 5-HT3B is associated with 1 mutation. Click here for details |
| TRPM2 | |
| Role: | Downregulation or mutation of TRPM2 may be associated with bipolar disorder. |
| References: | 5-6 |
| Kv11.3 | |
| Role: | Unknown; R394H mutation shifts voltage dependence of activation to more positive potentials and slows activation kinetics |
| References: | 4 |
| Mutations: | Kv11.3 is associated with 1 mutation. Click here for details |
Ligands
GtoPdb Disease Summaries - Ligands
Click ligand name to view ligand summary page
- Approved: If the ligand is an approved drug this is indicated, along with approval bodies.
- Immuno: Immuno icon indicates the ligand is immuno-relevant
Click the arrow in the final column to expand comments
- Immuno Disease Comments: Curatorial comments specifically added as part of GtoImmuPdb. They give more information on the association between the ligand and disease in the context of immunopharmacology.
- Clinical Use: General clinical comments relating to the ligand and may not necessarily be specific to the disease in question. With hyperlink to more details on the ligand summary pages.
- Bioactivty Comments: Curatorial comments specifically about the compounds biological activity - with hyperlink to more details on the ligand summary pages.
More information can be found in the help pages.
✖No ligand related data available for Major affective disorder 1; MAFD1
References
1. Frank B, Niesler B, Nöthen MM, Neidt H, Propping P, Bondy B, Rietschel M, Maier W, Albus M, Rappold G. (2004) Investigation of the human serotonin receptor gene HTR3B in bipolar affective and schizophrenic patients. Am J Med Genet B Neuropsychiatr Genet, 131B (1): 1-5. [PMID:15389765]
2. Niesler B, Flohr T, Nöthen MM, Fischer C, Rietschel M, Franzek E, Albus M, Propping P, Rappold GA. (2001) Association between the 5' UTR variant C178T of the serotonin receptor gene HTR3A and bipolar affective disorder. Pharmacogenetics, 11 (6): 471-5. [PMID:11505217]
3. Parsian A, Chakraverty S, Todd RD. (1995) Possible association between the dopamine D3 receptor gene and bipolar affective disorder. Am J Med Genet, 60 (3): 234-7. [PMID:7573178]
4. Strauss KA, Markx S, Georgi B, Paul SM, Jinks RN, Hoshi T, McDonald A, First MB, Liu W, Benkert AR et al.. (2014) A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder. Hum Mol Genet, 23 (23): 6395-406. [PMID:24986916]
5. Xu C, Macciardi F, Li PP, Yoon IS, Cooke RG, Hughes B, Parikh SV, McIntyre RS, Kennedy JL, Warsh JJ. (2006) Association of the putative susceptibility gene, transient receptor potential protein melastatin type 2, with bipolar disorder. Am J Med Genet B Neuropsychiatr Genet, 141B (1): 36-43. [PMID:16252251]
6. Yoon IS, Li PP, Siu KP, Kennedy JL, Macciardi F, Cooke RG, Parikh SV, Warsh JJ. (2001) Altered TRPC7 gene expression in bipolar-I disorder. Biol Psychiatry, 50 (8): 620-6. [PMID:11690598]
