multiple endocrine neoplasia type 2A
Information
- Disease name
- multiple endocrine neoplasia type 2A
- Disease ID
- DOID:0050430
- Description
- "A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis." [url:http\://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia, url:http\://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/multiple_endocrine_neoplasia_men_syndromes/multiple_endocrine_neoplasia_type_2a_men_2a.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/15965261, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1244/viewAbstract]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT00390325 | Completed | Phase 2 | Sorafenib Tosylate in Treating Patients With Metastatic, Locally Advanced, or Recurrent Medullary Thyroid Cancer | November 3, 2006 | December 22, 2022 |
| NCT00514046 | Completed | Phase 1/Phase 2 | Vandetanib to Treat Children and Adolescents With Medullary Thyroid Cancer | July 20, 2007 | November 1, 2020 |
| NCT01793168 | Recruiting | Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford | July 2010 | December 2100 | |
| NCT02831179 | Withdrawn | Phase 1 | Veliparib, Capecitabine, and Temozolomide in Patients With Advanced, Metastatic, and Recurrent Neuroendocrine Tumor | December 2017 | February 2020 |
- Disase is a (Disease Ontology)
- DOID:3125
- Cross Reference ID (Disease Ontology)
- ICD10CM:E31.22
- Cross Reference ID (Disease Ontology)
- ICD9CM:258.02
- Cross Reference ID (Disease Ontology)
- MESH:D018813
- Cross Reference ID (Disease Ontology)
- MIM:171400
- Cross Reference ID (Disease Ontology)
- NCI:C3226
- Cross Reference ID (Disease Ontology)
- ORDO:247698
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:721188000
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0025268
- Exact Synonym (Disease Ontology)
- MEN2A
- Exact Synonym (Disease Ontology)
- multiple endocrine neoplasia II
- Exact Synonym (Disease Ontology)
- Sipple syndrome
- OrphaNumber from OrphaNet (Orphanet)
- 247698
- MeSH unique ID (MeSH (Medical Subject Headings))
- D018813