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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: | 874 | |
Name: | Spinal and bulbar muscular atrophy, X-linked 1; SMAX1 | |
Associated with: | 1 target |
Synonyms |
Kennedy disease | Kennedy's disease |
Database Links |
Disease Ontology:
DOID:0060161 OMIM: 313200 Orphanet: ORPHA481 |
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.
✖Androgen receptor | |
Comments: | Spinobulbar muscular atrophy (SBMA) is an X-linked form of motor neuron disease characterized by progressive atrophy of the muscles, dysphagia, dysarthria and mild androgen insensitivity. SMBA is caused by CAG repeat expansion in the androgen receptor gene. |
References: | 1-3 |
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 Spinal and bulbar muscular atrophy, X-linked 1; SMAX1
1. MacLean HE, Choi WT, Rekaris G, Warne GL, Zajac JD. (1995) Abnormal androgen receptor binding affinity in subjects with Kennedy's disease (spinal and bulbar muscular atrophy). J Clin Endocrinol Metab, 80 (2): 508-16. [PMID:7852512]
2. Neuschmid-Kaspar F, Gast A, Peterziel H, Schneikert J, Muigg A, Ransmayr G, Klocker H, Bartsch G, Cato AC. (1996) CAG-repeat expansion in androgen receptor in Kennedy's disease is not a loss of function mutation. Mol Cell Endocrinol, 117 (2): 149-56. [PMID:8737374]
3. Sułek A, Hoffman-Zacharska D, Krysa W, Szirkowiec W, Fidziańska E, Zaremba J. (2005) CAG repeat polymorphism in the androgen receptor (AR) gene of SBMA patients and a control group. J Appl Genet, 46 (2): 237-9. [PMID:15876692]