loading...| Preferred Name | Multiple Endocrine Neoplasia Type 2a [Disease/Finding] | |
| Synonyms |
MEN 2a Multiple Endocrine Neoplasia, Type IIa MEN-2A Syndrome Multiple Endocrine Neoplasms Type 2a Neoplasia, Multiple Endocrine Type 2a Multiple Endocrine Neoplasia Type 2 MEA IIa Multiple Endocrine Neoplasia Type 2a MEN2a MEN 2 MEA II Pheochromocytoma And Amyloid-Producing Medullary Thyroid Carcinoma Sipple Syndrome MEA 2a MEN II Neoplasms, Multiple Endocrine Type 2a MEN IIa |
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| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000003862 |
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| altLabel |
MEN 2a Multiple Endocrine Neoplasia, Type IIa MEN-2A Syndrome Multiple Endocrine Neoplasms Type 2a Neoplasia, Multiple Endocrine Type 2a Multiple Endocrine Neoplasia Type 2 MEA IIa Multiple Endocrine Neoplasia Type 2a MEN2a MEN 2 MEA II Pheochromocytoma And Amyloid-Producing Medullary Thyroid Carcinoma Sipple Syndrome MEA 2a MEN II Neoplasms, Multiple Endocrine Type 2a MEN IIa |
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| cui |
C0025268 |
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| MESH DEFINITION |
A form of multiple endocrine neoplasia characterized by the presence of medullary carcinoma (CARCINOMA, MEDULLARY) of the THYROID GLAND, and usually with the co-occurrence of PHEOCHROMOCYTOMA, producing CALCITONIN and ADRENALINE, respectively. Less frequently, it can occur with hyperplasia or adenoma of the PARATHYROID GLANDS. This disease is due to gain-of-function mutations of the MEN2 gene on CHROMOSOME 10 (Locus: 10q11.2), also known as the RET proto-oncogene that encodes a RECEPTOR PROTEIN-TYROSINE KINASE. It is an autosomal dominant inherited disease. |
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| MESH DUI |
D018813 |
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| MeSH name |
Multiple Endocrine Neoplasia Type 2a |
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| MESH UI |
M0028166 |
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| NDFRT kind |
DISEASE_KIND |
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| notation |
N0000003862 |
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| NUI |
N0000003862 |
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| prefLabel |
Multiple Endocrine Neoplasia Type 2a [Disease/Finding] |
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| SNOMED CID |
61808009 |
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| tui |
T191 |
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| subClassOf |