| Entry |
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| Name |
Mutation-activated AVPR2 to AVP-V2R-PKA signaling pathway
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| Definition |
AVPR2* -> GNAS -> ADCY3/6/9 -> cAMP -> PKA -> AQP2 |
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| Expanded |
554v1 -> 2778 -> (109,112,115) -> C00575 -> (5566+5567+5568) -> 359 |
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| Class |
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| Type |
Variant
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| Disease |
| H01294 | Nephrogenic syndrome of inappropriate antidiuresis |
| H01682 | Syndrome of inappropriate secretion of antidiuretic hormone |
| H01683 | Disorders of antidiuretic hormone (ADH) secretion |
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| Gene |
| 554 | AVPR2; arginine vasopressin receptor 2 |
| 2778 | GNAS; GNAS complex locus |
| 109 | ADCY3; adenylate cyclase 3 |
| 112 | ADCY6; adenylate cyclase 6 |
| 115 | ADCY9; adenylate cyclase 9 |
| 5566 | PRKACA; protein kinase cAMP-activated catalytic subunit alpha |
| 5567 | PRKACB; protein kinase cAMP-activated catalytic subunit beta |
| 5568 | PRKACG; protein kinase cAMP-activated catalytic subunit gamma |
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| Variant |
554v1 (AVPR2*) AVPR2 mutation
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| Metabolite |
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| Reference |
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| Authors |
Bardanzellu F, Pintus MC, Masile V, Fanos V, Marcialis MA |
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| Title |
Focus on neonatal and infantile onset of nephrogenic syndrome of inappropriate antidiuresis: 12 years later. |
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| Journal |
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| Reference |
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| Authors |
Erdelyi LS, Mann WA, Morris-Rosendahl DJ, Gross U, Nagel M, Varnai P, Balla A, Hunyady L |
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| Title |
Mutation in the V2 vasopressin receptor gene, AVPR2, causes nephrogenic syndrome of inappropriate diuresis. |
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| Journal |
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| LinkDB |
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