loading...| Preferred Name | Multiple Endocrine Neoplasia | |
| Synonyms |
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| Definitions |
An autosomal dominant inherited neoplastic syndrome characterized by the development of various endocrine neoplasms and abnormalities in various anatomic sites. There are four 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, type 2B (MEN 2B) also caused by mutation of the RET gene, and type 4 (MEN 4) caused by mutation of the CDKN1B 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. Patients with MEN 4 develop endocrine neoplasms, particularly in the parathyroid glands, pituitary, and pancreas. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C6432 |
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| ALT_DEFINITION |
An inherited condition that may result in the development of cancers of the endocrine system. There are several types of multiple endocrine neoplasia syndrome, and patients with each type may develop different types of cancer. The altered genes that cause each type can be detected with a blood test. A genetically heterogenous group of autosomal dominant neoplastic syndromes characterized by the development of neoplasms in various endocrine organs. |
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| code |
C6432 |
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| Contributing_Source |
CTRP GDC NICHD |
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| definition |
An autosomal dominant inherited neoplastic syndrome characterized by the development of various endocrine neoplasms and abnormalities in various anatomic sites. There are four 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, type 2B (MEN 2B) also caused by mutation of the RET gene, and type 4 (MEN 4) caused by mutation of the CDKN1B 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. Patients with MEN 4 develop endocrine neoplasms, particularly in the parathyroid glands, pituitary, and pancreas. |
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| Display_Name |
Multiple Endocrine Neoplasia |
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| ICD-O-3_Code |
8360/1 |
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C168658 http://purl.obolibrary.org/obo/NCIT_C168656 http://purl.obolibrary.org/obo/NCIT_C168657 http://purl.obolibrary.org/obo/NCIT_C168655 http://purl.obolibrary.org/obo/NCIT_C90259 http://purl.obolibrary.org/obo/NCIT_C168662 http://purl.obolibrary.org/obo/NCIT_C168661 http://purl.obolibrary.org/obo/NCIT_C177537 http://purl.obolibrary.org/obo/NCIT_C116977 http://purl.obolibrary.org/obo/NCIT_C118467 |
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| Is_Value_For_GDC_Property | ||
| label |
Multiple Endocrine Neoplasia |
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| Legacy Concept Name |
Multiple_Endocrine_Neoplasia |
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| Maps_To |
Multiple endocrine adenomas Endocrine adenomatosis 8360/1 |
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| Neoplastic_Status |
Undetermined |
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| Preferred_Name |
Multiple Endocrine Neoplasia |
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| prefixIRI |
NCIT:C6432 |
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| prefLabel |
Multiple Endocrine Neoplasia |
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| Related_To_Genetic_Biomarker |
http://purl.obolibrary.org/obo/NCIT_C18257 |
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| Semantic_Type |
Neoplastic Process |
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| UMLS_CUI |
C1955745 |
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| subClassOf |