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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 |
|---|---|---|---|
| 1571 | CYP2E1 | cytochrome P450 family 2 subfamily E member 1 | |
| 2717 | GLA | galactosidase alpha | |
| 2720 | GLB1 | galactosidase beta 1 | |
| 3037 | HAS2 | hyaluronan synthase 2 | |
| 4153 | MBL2 | mannose binding lectin 2 | |
| 4952 | OCRL | OCRL inositol polyphosphate-5-phosphatase | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma |
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 |
