multiple endocrine neoplasia type 4

Summary
Synonym
  • Multiple Endocrine Neoplasia, Type IV
Definition
A multiple endocrine neoplasia that is characterized by hyperparathyroidism and multiple endocrine tumors and that has_material_basis_in mutations in the CDKN1B gene on chromosome 12p13 resulting in a reduction in the amount of functional p27 tumor suppressor protein which allows cells to grow and divide unchecked.
Super Class
autosomal dominant disease multiple endocrine neoplasia
Disease Ontology
DOID:0080137
Mondo Disease Ontology
MeSH
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1027 CDKN1B cyclin dependent kinase inhibitor 1B
Displaying 1 entry
Gene ID Gene Symbol Description Source
83571 Cdkn1b cyclin-dependent kinase inhibitor 1B

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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: December 9, 2024