Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

CRRD ID: 10220
Species: Mus musculus
CRRD Object: Gene
Symbol: Avp
Name: arginine vasopressin
Acc ID: DOID:12388
Term: neurohypophyseal diabetes insipidus
Definition: A genetic or acquired polyuric disorder caused by a deficiency of VASOPRESSINS secreted by the NEUROHYPOPHYSIS. Clinical signs include the excretion of large volumes of dilute URINE; HYPERNATREMIA; THIRST; and polydipsia. Etiologies include HEAD TRAUMA; surgeries and diseases involving the HYPOTHALAMUS and the PITUITARY GLAND. This disorder may also be caused by mutations of genes such as ARVP encoding vasopressin and its corresponding neurophysin (NEUROPHYSINS).
Definition Source(s): MESH:D020790
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 IEA 13592920MouseDOOMIM:125700 , OMIM:304900

 
 ISORGD:21842301917CRRD  
 ISORGD:689682301918CRRDDNA:missense mutations: :multiple

 
 ISORGD:689687240710OMIM  
 ISORGD:689688554872ClinVarClinVar Annotator: match by OMIM:125700

 
 ISORGD:689688554872ClinVarClinVar Annotator: match by OMIM:125700

PMID:10443701, PMID:3390991, PMID:8370681, PMID:8370682, PMID:8514868
 ISORGD:689688554872ClinVarClinVar Annotator: match by OMIM:125700

PMID:10487710, PMID:9360520
 ISORGD:689688554872ClinVarClinVar Annotator: match by OMIM:125700

PMID:11017955, PMID:11443218
 ISORGD:689688554872ClinVarClinVar Annotator: match by OMIM:125700

PMID:11836335, PMID:8103767
 ISORGD:689688554872ClinVarClinVar Annotator: match by OMIM:125700

PMID:12107248, PMID:15356057
 ISORGD:689688554872ClinVarClinVar Annotator: match by OMIM:125700

PMID:14660745, PMID:7714110
 ISORGD:689688554872ClinVarClinVar Annotator: match by OMIM:125700

PMID:14673472
 ISORGD:689688554872ClinVarClinVar Annotator: match by OMIM:125700

PMID:15070970
 ISORGD:689688554872ClinVarClinVar Annotator: match by OMIM:125700

PMID:1740104, PMID:8945633
 ISORGD:689688554872ClinVarClinVar Annotator: match by OMIM:125700

PMID:1840604, PMID:6132221
 ISORGD:689688554872ClinVarClinVar Annotator: match by OMIM:125700

PMID:7714110
 ISORGD:689688554872ClinVarClinVar Annotator: match by OMIM:125700

PMID:8550751
 ISORGD:689688554872ClinVarClinVar Annotator: match by OMIM:125700

PMID:8626836
 ISORGD:689688554872ClinVarClinVar Annotator: match by OMIM:125700

PMID:8989232, PMID:9467595
 ISORGD:689688554872ClinVarClinVar Annotator: match by OMIM:125700

PMID:9467595
 ISORGD:689688554872ClinVarClinVar Annotator: match by OMIM:125700

PMID:9580132
 ISORGD:689688554872ClinVarClinVar Annotator: match by OMIM:125700

PMID:9814475
 ISORGD:689688554872ClinVarClinVar Annotator: match by term: Diabetes insipidus, neurohypophyseal, autosomal recessive

PMID:10369876, PMID:15356057
 ISORGD:6896811554173CTDCTD Direct Evidence: marker/mechanism

PMID:7057320
Go Back to source page   Continue to Ontology report

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.