multiple endocrine neoplasia type 4

Term ID

DOID:0080137

Synonyms

• 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. https://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia

References

• MESH:C567059
• MIM:610755

Ontology

Human Disease   ( DOID:0080137 )