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Multiple endocrine neoplasia type 2B

Disease definition

Multiple endocrine neoplasia 2B (MEN2B) syndrome is a rare aggressive form of MEN2 (see this term) characterized by medullary thyroid carcinoma (MTC, see this term), pheochromocytoma (see this term), mucosal ganglioneuroma, and marfanoid habitus.

ORPHA:247709

  • Synonym(s):
    • MEN2B
    • Multiple endocrine neoplasia type 3
    • Wagenmann-Froboese syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: D44.8
  • OMIM: 162300
  • UMLS: C0025269
  • MeSH: D018814
  • GARD: 10225
  • MedDRA: 10056420

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