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GENATLAS PHENOTYPE
last update : 10/11/2005
Symbol DIR3
Location 20p13
Name diabetes insipidus, neurohypophyseal type
Other name(s)
  • diabetes insipidus, primary central
  • diabetes insipidus, cranial type
    • Corresponding gene AVP
    Other symbol(s) ARVP
    Main clinical features familial neurohypophyseal diabetes insipidus, hypertelorism, decreased bone mineral density
    Genetic determination autosomal dominant
    Function/system disorder endocrinology
    Type disease
    Gene product
    Name arginine vasopressin, neurophysin II (AVP) pre hormone
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/loss of function missense, nonsense, deletion
    Remark(s)