Monogenic nephrogenic diabetes insipidus
Gene: AVPR2
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
nephrogenic diabetes insipidus (commonest cause, affected females also reported often with a milder and later presentation)
Added the 'treatable' tag due to information available on Orphanet regarding Nephrogenic diabetes insipidus: "Patients should receive a low salt diet with limited potassium and protein intake and take thiazide diuretics in combination with indomethacin. This treatment has changed the life of affected patients, especially infants." summary reviewed by : Dr Patrick NIAUDET - Last update: February 2007 (http://www.orpha.net).Created: 10 May 2017, 7:34 a.m.
Gene should be green - >3 unrelated cases/families reported. PMID: 9329382 indicates that heterozygous females may be affected, depending on X-linked skewing.Created: 26 Apr 2017, 9:47 a.m.
Mode of inheritance
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
Tag Skewed X-inactivation tag was added to gene: AVPR2.
Phenotypes for AVPR2 were set to 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)
Mode of inheritance for AVPR2 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Ready for use in tiering
This gene has been classified as Green List (High Evidence).
Mode of inheritance for AVPR2 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for AVPR2 were set to 18726898; 27565746; 27117808; 26974133; 26828532
Publications for AVPR2 were set to 18726898
AVPR2 was added to monogenic nephrogenic diabetes insipiduspanel. Source: UKGTN
AVPR2 was added to monogenic nephrogenic diabetes insipiduspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene AVPR2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
AVPR2 was created by oniblock
AVPR2 was added to monogenic nephrogenic diabetes insipiduspanel. Sources: Radboud University Medical Center, Nijmegen