loading...| Preferred Name | multiple endocrine neoplasia type 1 | |
| Synonyms |
MEN1 |
|
| Definitions |
An autosomal dominant inherited neoplastic syndrome characterized by the development of various endocrine neoplasms and abnormalities in various anatomic sites. There are three types recognized: type 1 (MEN 1), caused by inactivation of the tumor suppressor gene MEN-1, type 2A (MEN 2A), caused by mutation of the RET gene, and type 2B (MEN 2B) also caused by mutation of the RET gene. Patients with MEN 1 may develop hyperparathyroidism and parathyroid gland adenomas, pituitary gland adenomas, pancreatic islet cell neoplasms, and carcinoid tumors. Patients with MEN 2A develop medullary thyroid carcinomas, and may also develop pheochromocytomas and parathyroid gland hyperplasia. Patients with MEN 2B develop medullary thyroid carcinomas and numerous neural defects including neuromas. Check for "https://www.cancer.gov/about-cancer/treatment/clinical-trials/intervention/C3225" active clinical trials using this agent. ("http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI%20Thesaurus&code=C3225" NCI Thesaurus) |
|
| ID |
http://purl.bioontology.org/ontology/PDQ/CDR0000654711 |
|
| altLabel |
MEN1 |
|
| Associated disease |
http://purl.bioontology.org/ontology/PDQ/CDR0000665198 http://purl.bioontology.org/ontology/PDQ/CDR0000038736 http://purl.bioontology.org/ontology/PDQ/CDR0000038758 http://purl.bioontology.org/ontology/PDQ/CDR0000038240 http://purl.bioontology.org/ontology/PDQ/CDR0000657184 |
|
| cui |
C0025267 |
|
| DATE FIRST PUBLISHED |
2009-09-10 |
|
| Date last modified |
2012-02-29 |
|
| definition |
An autosomal dominant inherited neoplastic syndrome characterized by the development of various endocrine neoplasms and abnormalities in various anatomic sites. There are three types recognized: type 1 (MEN 1), caused by inactivation of the tumor suppressor gene MEN-1, type 2A (MEN 2A), caused by mutation of the RET gene, and type 2B (MEN 2B) also caused by mutation of the RET gene. Patients with MEN 1 may develop hyperparathyroidism and parathyroid gland adenomas, pituitary gland adenomas, pancreatic islet cell neoplasms, and carcinoid tumors. Patients with MEN 2A develop medullary thyroid carcinomas, and may also develop pheochromocytomas and parathyroid gland hyperplasia. Patients with MEN 2B develop medullary thyroid carcinomas and numerous neural defects including neuromas. Check for "https://www.cancer.gov/about-cancer/treatment/clinical-trials/intervention/C3225" active clinical trials using this agent. ("http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI%20Thesaurus&code=C3225" NCI Thesaurus) |
|
| NCI ID |
C3225 |
|
| notation |
CDR0000654711 |
|
| ORIG STY |
Genetic condition |
|
| prefLabel |
multiple endocrine neoplasia type 1 |
|
| tui |
T191 |
|
| subClassOf |