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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: | 249 | |
Name: | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | |
Associated with: | 1 target |
Synonyms |
CLOVE syndrome |
Description |
CLOVE syndrome is caused by gain-of-function mutation of the PI3KA gene. |
Database Links |
OMIM:
612918 Orphanet: ORPHA140944 |
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.
✖phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
Drugs: | CLOVE syndrome patients treated with the PI3Kα-selective kinase inhibitor alpelisib achieve significant reduction in symptoms across a varied range of tissues that are affected by this disease. |
Side effects: | Alpelisib treatment was not associated with any substantial side effects in the nineteen CLOVE syndrome patients that were given the drug. |
Therapeutic use: | Alpelisib is not yet an approved drug (May 2019) so is being tested in this select patient cohort on compassionate grounds. |
Comments: | Use of alpelisib to treat CLOVE syndrome and other PI3KA-related overgrowth spectrum (PROS) conditions is claimed in patent WO/2017/140828 |
References: | 1-2 |
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 Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
1. Canaud G. (2017) BYL719 (ALPELISIB) FOR USE IN THE TREATMENT OF PIK3CA-RELATED OVERGROWTH SPECTRUM (PROS - CLOVES SYNDROME). Patent number: WO2017140828. Assignee: INERM, CNRS, UNIVERSITÉ PARIS DESCARTES, ASSISTANCE PUBLIQUE-HÔPITAUX DE PARIS. Priority date: 17/02/2017. Publication date: 24/08/2017.
2. Venot Q, Blanc T, Rabia SH, Berteloot L, Ladraa S, Duong JP, Blanc E, Johnson SC, Hoguin C, Boccara O et al.. (2018) Targeted therapy in patients with PIK3CA-related overgrowth syndrome. Nature, 558 (7711): 540-546. [PMID:29899452]