loading...| Preferred Name |
Lynch syndrome |
|
| Synonyms |
|
|
| Definitions |
A rare form of hereditary nonpolyposis colon cancer (HNPCC) characterized by predisposition to a wide variety of cancers, including neoplasms of the digestive tract, urinary tract, endometrium, ovary, brain, and prostate, as well as sebaceous skin tumors. LS-associated tumors are typically characterized by the presence of microsatellite instability (MSI) and loss of expression of MMR proteins in tumor tissue. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_144 |
|
| definition |
A rare form of hereditary nonpolyposis colon cancer (HNPCC) characterized by predisposition to a wide variety of cancers, including neoplasms of the digestive tract, urinary tract, endometrium, ovary, brain, and prostate, as well as sebaceous skin tumors. LS-associated tumors are typically characterized by the presence of microsatellite instability (MSI) and loss of expression of MMR proteins in tumor tissue. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=144 |
|
| has_age_of_onset |
Adult |
|
| has_inheritance |
Autosomal dominant |
|
| hasDbXref |
OMIM:614350 MedDRA:10051981 OMIM:613244 UMLS:C4552100 OMIM:614331 OMIM:614337 ICD-10:D48.9 MeSH:D003123 OMIM:120435 OMIM:609310 OMIM:614385 |
|
| label |
Lynch syndrome |
|
| notation |
ORPHA:144 |
|
| part_of | ||
| prefixIRI |
ORDO:Orphanet_144 |
|
| prefLabel |
Lynch syndrome |
|
| present_in |
Worldwide AND has_point_prevalence_range : Unknown |
|
| treeView | ||
| subClassOf |