Chromosome 15q11-q13 duplication syndrome
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: | 214 | |
| Name: | Chromosome 15q11-q13 duplication syndrome | |
| Associated with: | 1 target | |
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.
✖| GABAA receptor γ3 subunit | |
| Role: | Mental retardation in 75%, seizures in 15-30%, EEG abnormalities in 20-50%, impaired social interactions, impaired use of nonverbal behaviors, such as eye-to-eye gaze, facial expression, body posture, and gestures, impaired ability to form peer relationships, impaired language development. Lack of spontaneous play, restrictive behavior, interests, and activities, stereotyped, repetitive behavior, inflexible adherence to routines or rituals, increased serum serotonin in 25%, onset by 3 years of age Male to female ratio 4:1 Occurs in 2-5 per 10,000 individuals |
| References: | 1-8 |
| Mutations: | GABAA receptor γ3 subunit 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 Chromosome 15q11-q13 duplication syndrome
References
1. Cook EH, Lindgren V, Leventhal BL, Courchesne R, Lincoln A, Shulman C, Lord C, Courchesne E. (1997) Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. Am J Hum Genet, 60 (4): 928-34. [PMID:9106540]
2. Filipek PA, Juranek J, Smith M, Mays LZ, Ramos ER, Bocian M, Masser-Frye D, Laulhere TM, Modahl C, Spence MA et al.. (2003) Mitochondrial dysfunction in autistic patients with 15q inverted duplication. Ann Neurol, 53 (6): 801-4. [PMID:12783428]
3. Hogart A, Leung KN, Wang NJ, Wu DJ, Driscoll J, Vallero RO, Schanen NC, LaSalle JM. (2009) Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number. J Med Genet, 46 (2): 86-93. [PMID:18835857]
4. Hogart A, Nagarajan RP, Patzel KA, Yasui DH, Lasalle JM. (2007) 15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders. Hum Mol Genet, 16 (6): 691-703. [PMID:17339270]
5. Itsara A, Cooper GM, Baker C, Girirajan S, Li J, Absher D, Krauss RM, Myers RM, Ridker PM, Chasman DI et al.. (2009) Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet, 84 (2): 148-61. [PMID:19166990]
6. Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox GF, Dickinson H, Gentile J, Harris DJ et al.. (2009) Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet, 46 (4): 242-8. [PMID:18805830]
7. Thomas JA, Johnson J, Peterson Kraai TL, Wilson R, Tartaglia N, LeRoux J, Beischel L, McGavran L, Hagerman RJ. (2003) Genetic and clinical characterization of patients with an interstitial duplication 15q11-q13, emphasizing behavioral phenotype and response to treatment. Am J Med Genet A, 119A (2): 111-20. [PMID:12749048]
8. van Bon BW, Mefford HC, Menten B, Koolen DA, Sharp AJ, Nillesen WM, Innis JW, de Ravel TJ, Mercer CL, Fichera M et al.. (2009) Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. J Med Genet, 46 (8): 511-23. [PMID:19372089]
