multiple endocrine neoplasia type 2A

Summary
Synonym
  • MEN2A
  • Sipple syndrome
  • multiple endocrine neoplasia II
Definition
A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis.
Super Class
autosomal dominant disease multiple endocrine neoplasia
External Links
Disease Ontology
DOID:0050430
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
Related Genes
Displaying entries 1 - 10 of 12 in total
Gene ID Gene Symbol Description Source
28 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
1048 CEACAM5 CEA cell adhesion molecule 5
1636 ACE angiotensin I converting enzyme
2271 FH fumarate hydratase
2526 FUT4 fucosyltransferase 4
5728 PTEN phosphatase and tensin homolog
6390 SDHB succinate dehydrogenase complex iron sulfur subunit B
6391 SDHC succinate dehydrogenase complex subunit C
6392 SDHD succinate dehydrogenase complex subunit D
27349 MCAT malonyl-CoA-acyl carrier protein transacylase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024