Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Arginine vasopressin

The AVP gene encodes the antidiuretic hormone, arginine vasopressin, which is secreted by the posterior pituitary. Mutaions cause autosomal dominant central diabetes insipidus.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

Central diabetes insipidus
AVP

References:

1.

Bahnsen U et al. (1992) A missense mutation in the vasopressin-neurophysin precursor gene cosegregates with human autosomal dominant neurohypophyseal diabetes insipidus.

external link
2.

Ito M et al. (1991) A single base substitution in the coding region for neurophysin II associated with familial central diabetes insipidus.

external link
3.

Ito M et al. (1993) Possible involvement of inefficient cleavage of preprovasopressin by signal peptidase as a cause for familial central diabetes insipidus.

external link
4.

Orphanet article

Orphanet ID 118943 external link
5.

NCBI article

NCBI 551 external link
6.

OMIM.ORG article

Omim 192340 external link
7.

Wikipedia article

Wikipedia EN (Vasopressin) external link
Update: Aug. 14, 2020
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