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| GENATLAS PHENOTYPE |
| last update : 07-11-2012 |
| Symbol | DIR1 |
| Location | Xq28 |
| Name | nephrogenic diabetes insipidus, X-linked |
| Other name(s) | congenital nephrogenic diabetes insipidus |
| Corresponding gene | AVPR2 |
| Other symbol(s) | NDI, XNDI, DI1, DIR, CNDI |
| Main clinical features | polyuria, polydipsia and dehydratation, with low or absent AQP2 excretion (Kotnik 2007) |
| Genetic determination | sex linked |
| Function/system disorder | kidney and urinary tract |
| Type | disease |
| Gene product |
| Name | vasopressin renal V2-type receptor (VR2R) |
| Mechanism(s) |
| Gene mutation | Chromosome rearrangement | Effect | Comments |
| various types
|
| abnormal protein/loss of function
| resistance to the antidiuretic action of AVP in the renal tubules and collecting ducts
|
| deletion
| haploinsufficiency
| contiguous gene deletion including AVPR2
| |
| Remark(s) |
| Genotype/Phenotype correlations |
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