Details of Disease

General Information of Disease (ID: DIS6FT6I)

Disease Name Multiple endocrine neoplasia type 2B
Synonyms
Neuromata, mucosal, with endocrine tumors; mucosal Neuroma syndrome; multiple endocrine neoplasia, type III, formerly; multiple endocrine neoplasia, type 2B; multiple endocrine neoplasia, type IIB; multiple endocrine neoplasia, type 3 (formerly); Neuromata, mucosal, with endocrine tumours; Wagenmann-Froboese syndrome; multiple endocrine neoplasia type 3; multiple endocrine neoplasia IIB; men type IIB; multiple endocrine adenomatosis type IIB; multiple endocrine neoplasia type III; men IIB; multiple endocrine neoplasia type 2B; men 2B; men type 2B; mucosal neuroma syndrome; multiple endocrine neoplasia, type 3; MEN2B; multiple endocrine neoplasia type IIB; multiple endocrine neoplasia, type III
Definition Multiple endocrine neoplasia 2B (MEN2B) syndrome is a rare aggressive form of MEN2 characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal ganglioneuroma, and marfanoid habitus.
Disease Hierarchy
DISDQ6PK: Malignant urinary system neoplasm
DISPQ4Y5: Multiple endocrine neoplasia type 2
DIS3HIWD: Autosomal dominant disease
DIS6FT6I: Multiple endocrine neoplasia type 2B
Disease Identifiers
MONDO ID
MONDO_0008082
MESH ID
D018814
UMLS CUI
C0025269
OMIM ID
162300
MedGen ID
9959
Orphanet ID
247709
SNOMED CT ID
61530001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
RET TTY0WT7 Definitive Autosomal dominant [1]
RET TT4DXQT Definitive Biomarker [2]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CNMD OTHND8EL Strong Altered Expression [3]
DOCK11 OTFSTN6A Strong Genetic Variation [4]
RET OTLU040A Definitive Autosomal dominant [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2 Pheochromocytoma in Children and Adolescents With Multiple Endocrine Neoplasia Type 2B.J Clin Endocrinol Metab. 2019 Jan 1;104(1):7-12. doi: 10.1210/jc.2018-00705.
3 Expression profiles provide insights into early malignant potential and skeletal abnormalities in multiple endocrine neoplasia type 2B syndrome tumors.Cancer Res. 2004 Jun 1;64(11):3907-13. doi: 10.1158/0008-5472.CAN-03-3801.
4 Single oligoarray-based detection of specific M918T mutation in RET oncogene in multiple endocrine neoplasia type 2B.Clin Exp Med. 2011 Dec;11(4):227-34. doi: 10.1007/s10238-010-0128-z. Epub 2011 Jan 21.