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Tableau II.
Enzymes du métabolisme des phosphoinositides et pathologies [54, 55].
| Maladies | Gènes impliqués (protéines) | Modifications |
|---|---|---|
| Syndrome de Lowe | OCRL | Mutation |
| Maladie de Dent | OCRL | Mutation |
| Syndrome des contractures congénitales létales type 1 (LCCS3) | PIP5K1C (PtdIns[4]P-5-kinase 1 gamma) | Mutation |
| Myopathie congénitale myotubulaire | MTM1 MTMR14 | Mutation |
| Maladie de Charcot-Marie-Tooth | MTMR2 MTMR5 MTMR13 FIG4 | Mutations |
| Dystrophie cornéenne mouchetée de François et Neetens | PIP5K3 (PIKFYVE) | Mutation |
| Syndrome de Cowden/cancer | PTEN | Mutation |
| Cancer | PIK3CA (PI3K alpha de classe I) | Mutations de p110α, amplification |
| Ataxie apraxie oculo-motrice type 3 | PIK3R5 (PI3K sous-unité p101) | Mutation |
| Agammaglobulinémie | PIK3R1 (PI3K sous-unité p85α) | Mutation causant la délétion du gène |
| Syndrome de la PI3Kδ activée | (PIK3CD) PI3K sous-unité p110δ | Mutation activatrice |
| Syndrome de mégalencéphalie | PIK3R2 (PI3K sous-unité p85β) / PIK3CA (PI3K sous-unité p110α) | Mutation |
| Cancer (leucémies : LAM, LAL) | INPP5D (SHIP1) | Mutation |
| Diabète type 2 | INPPL1 (SHIP2) | Délétion 16 pb |
| Opsismodysplasia | INPPL1 (SHIP2) | Mutation |
| Syndrome de Morm et de Joubert | INPP5E | Mutation |
| Syndrome de Down/maladie de parkinson | SYNJ1 (synaptojanin 1) | Amplification |
| Syndrome segmental overgrowth | PIK3CA (PI3K alpha de classe I) | Mutation |
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