multiple endocrine neoplasia type 2B

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Information
Disease name
multiple endocrine neoplasia type 2B
Disease ID
DOID:10016
Description
"A multiple endocrine neoplasia characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities." [url:http\://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia_type_2b, 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_2b_men_2b.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
NCT03655223 Enrolling by invitation Early Check: Expanded Screening in Newborns October 15, 2018 December 31, 2025
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NCT02831179 Withdrawn Phase 1 Veliparib, Capecitabine, and Temozolomide in Patients With Advanced, Metastatic, and Recurrent Neuroendocrine Tumor December 2017 February 2020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:E31.23
Cross Reference ID (Disease Ontology)
ICD9CM:258.03
Cross Reference ID (Disease Ontology)
MESH:D018814
Cross Reference ID (Disease Ontology)
MIM:162300
Cross Reference ID (Disease Ontology)
NCI:C3227
Cross Reference ID (Disease Ontology)
ORDO:247709
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:61530001
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0025269
Exact Synonym (Disease Ontology)
MEN type IIB
Exact Synonym (Disease Ontology)
MEN2B
Exact Synonym (Disease Ontology)
mucosal neuroma syndrome
Exact Synonym (Disease Ontology)
Multiple endocrine neoplasia, type 3
Exact Synonym (Disease Ontology)
Wagenmann-Froboese syndrome
OrphaNumber from OrphaNet (Orphanet)
247709
MeSH unique ID (MeSH (Medical Subject Headings))
D018814