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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
| 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 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q01968 | Inositol polyphosphate 5-phosphatase OCRL | |
| Q8NCC3 | Lysosomal phospholipase A and acyltransferase | |
| Q92819 | Hyaluronan synthase 2 | |
| Q9NR19 | Acetyl-coenzyme A synthetase, cytoplasmic | |
| Q9Y2S2 | Lambda-crystallin homolog |
