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Orphanet Rare Disease Ontology
Last uploaded:
December 4, 2024
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| Id | http://www.orpha.net/ORDO/Orphanet_653
http://www.orpha.net/ORDO/Orphanet_653
|
|---|---|
| Preferred Name | Multiple endocrine neoplasia type 2 |
| Definitions |
A rare multiple endocrine neoplasia (MEN) syndrome that is principally characterized by the association of medullary thyroid carcinoma (MTC) with other endocrine tumors. The variant MEN 2A is defined by MTC associated with pheochromocytoma and/or primary hyperparathyroidism (MEN2A); the variant MEN 2B is defined as an aggressive form of MTC in association with pheochromocytoma but without primary hyperparathyroidism.
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| Synonyms |
MEN2
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition_citation | Orphanet |
|---|---|
| definition | A rare multiple endocrine neoplasia (MEN) syndrome that is principally characterized by the association of medullary thyroid carcinoma (MTC) with other endocrine tumors. The variant MEN 2A is defined by MTC associated with pheochromocytoma and/or primary hyperparathyroidism (MEN2A); the variant MEN 2B is defined as an aggressive form of MTC in association with pheochromocytoma but without primary hyperparathyroidism. |
| label |
Multiple endocrine neoplasia type 2
|
| prefLabel |
Multiple endocrine neoplasia type 2
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| hasDbXref |
ICD-11:2F7A.0
ICD-10:D44.8
MedDRA:10028191
OMIM:155240
OMIM:171400
OMIM:162300
UMLS:C4048306
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|
| notation |
ORPHA:653
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| alternative_term |
MEN2
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| present_in |
Europe AND has_point_prevalence_average_value : 2.9 AND has_point_prevalence_range : 1-9 / 100 000
Germany AND has_point_prevalence_average_value : 1.25 AND has_point_prevalence_range : 1-9 / 100 000
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| part_of | |
| prefixIRI |
ORDO:Orphanet_653
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| expertlink | |
| subClassOf | |
| type | |
| has_inheritance |
Autosomal dominant
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| has_age_of_onset |
Adolescent
Adult
Childhood
Infancy
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| treeView |
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