multiple endocrine neoplasia type 4
Information
- Disease name
- multiple endocrine neoplasia type 4
- Disease ID
- DOID:0080137
- Description
- "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." [url:https\://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:3125
- Cross Reference ID (Disease Ontology)
- MESH:C567059
- Cross Reference ID (Disease Ontology)
- MIM:610755
- Exact Synonym (Disease Ontology)
- Multiple Endocrine Neoplasia, Type IV
- OrphaNumber from OrphaNet (Orphanet)
- 276152