neurohypophyseal diabetes insipidus

Summary
Synonym
  • Pituitary diabetes insipidus
  • Vasopressin deficiency
  • vasopressin defective diabetes insipidus
Definition
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.
Super Class
autosomal dominant disease central diabetes insipidus
External Links
Disease Ontology
DOID:12388
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 11 - 18 of 18 in total
Gene ID Gene Symbol Description Source
5631 PRPS1 phosphoribosyl pyrophosphate synthetase 1
5728 PTEN phosphatase and tensin homolog
9563 H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase
10005 ACOT8 acyl-CoA thioesterase 8
10159 ATP6AP2 ATPase H+ transporting accessory protein 2
23659 PLA2G15 phospholipase A2 group XV
51084 CRYL1 crystallin lambda 1
55902 ACSS2 acyl-CoA synthetase short chain family member 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024