Renal Tubulopathies and related disorders
Gene: AQP2
Onset in infancy. Causes severe dehydration, can be life-threatening.
Treatment: hydration, low-salt, low-protein diet, thiazide diuretics, amiloride, indomethacin.
Clinical trials.Created: 22 Sep 2022, 12:21 a.m. | Last Modified: 22 Sep 2022, 12:21 a.m.
Panel Version: 1.1
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Diabetes insipidus, nephrogenic MIM#125800
Well-established cause of nephrogenic diabetes insipidus. Loss of function is the mechanism of disease for the recessive form, while the dominantly inherited form is caused by pathogenic variants with a dominant negative effect.
Sources: Expert listCreated: 2 Dec 2020, 1:24 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Diabetes insipidus, nephrogenic MIM#125800
Publications
Variants in this GENE are reported as part of current diagnostic practice
gene: AQP2 was added gene: AQP2 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green Mode of inheritance for gene: AQP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: AQP2 were set to 7537761; 11536078; 9649557; 20301356; 27156763; 7524315 Phenotypes for gene: AQP2 were set to Diabetes insipidus, nephrogenic MIM#125800