Conditions / Genetic
neurohypophyseal diabetes insipidus
info · Genetic
A central diabetes insipidus that is characterized by polyuria and polydipsia due to a deficiency in vasopressin synthesis and that has_material_basis_in heterozygous mutation in the arginine vasopressin gene (AVP) on chromosome 20p13.
Signs and symptoms
- Long philtrum
- Decreased circulating osteocalcin level
- Osteopenia
- Short nose
- Gliosis
- Hypertelorism
- Central diabetes insipidus
- Wide nose
Medications that may treat it
Also known as: Pituitary diabetes insipidus; Vasopressin deficiency; vasopressin defective diabetes insipidus