AVPR2

arginine vasopressin receptor 2
OMIM: 300538
PanelMode of inheritanceDetails
1 panel
R-numbers: R198
Signed-off version 2.23
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Diabetes insipidus, nephrogenic, 304800, Nephrogenic Diabetes Insipidus, Diabetes Insipidus, Nephrogenic, X-Linked, nephrogenic diabetes insipidus (commonest cause, affected females also reported often with a milder and later presentation), Nephrogenic syndrome of inappropriate antidiuresis, 300539