loading...| Preferred Name |
Werner syndrome |
|
| Synonyms |
Werner's Syndrome |
|
| Definitions |
Werner Syndrome (WS) is an inherited disease characterized by an early onset of atherosclerosis, osteoporosis, diabetes mellitus, and cancers of non-epithelial cell origin. Cultured cells from WS patients also present a shortened replicative lifespan and increased genetic instability. The genomic instability of WS cells is manifested at the cytogenetic level in the form of chromosome breaks and translocations, and at the molecular level predominately by multiple, large DNA deletions. (J. Biol. Chem., 273(51):34139-34144, 1998) Check for "https://www.cancer.gov/about-cancer/treatment/clinical-trials/intervention/C3447" active clinical trials using this agent. ("http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI%20Thesaurus&code=C3447" NCI Thesaurus) |
|
| ID |
http://purl.bioontology.org/ontology/PDQ/CDR0000654678 |
|
| altLabel |
Werner's Syndrome Adult Progeria WS |
|
| Associated disease |
http://purl.bioontology.org/ontology/PDQ/CDR0000729962 http://purl.bioontology.org/ontology/PDQ/CDR0000039836 http://purl.bioontology.org/ontology/PDQ/CDR0000041186 http://purl.bioontology.org/ontology/PDQ/CDR0000041729 http://purl.bioontology.org/ontology/PDQ/CDR0000580900 |
|
| cui |
C0043119 |
|
| DATE FIRST PUBLISHED |
2009-09-09 |
|
| Date last modified |
2017-03-30 |
|
| definition |
Werner Syndrome (WS) is an inherited disease characterized by an early onset of atherosclerosis, osteoporosis, diabetes mellitus, and cancers of non-epithelial cell origin. Cultured cells from WS patients also present a shortened replicative lifespan and increased genetic instability. The genomic instability of WS cells is manifested at the cytogenetic level in the form of chromosome breaks and translocations, and at the molecular level predominately by multiple, large DNA deletions. (J. Biol. Chem., 273(51):34139-34144, 1998) Check for "https://www.cancer.gov/about-cancer/treatment/clinical-trials/intervention/C3447" active clinical trials using this agent. ("http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI%20Thesaurus&code=C3447" NCI Thesaurus) |
|
| NCI ID |
C3447 |
|
| notation |
CDR0000654678 |
|
| ORIG STY |
Genetic condition |
|
| prefLabel |
Werner syndrome |
|
| tui |
T047 |
|
| subClassOf |