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GTR Home > Conditions/Phenotypes > MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB

MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB

Synonyms
MEN 2B; MEN IIB; MULTIPLE ENDOCRINE NEOPLASIA, TYPE III; Mucosal neuroma syndrome; Multiple endocrine neoplasia, type 2b; Multiple endocrine neoplasia, type 3; Multiple endocrine neoplasia, type 3 (formerly); NEUROMATA, MUCOSAL, WITH ENDOCRINE TUMORS; Wagenmann-froboese syndrome
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Multiple Endocrine Neoplasia Type 2
Multiple endocrine neoplasia type 2 (MEN2) includes the following phenotypes: MEN2A, familial medullary thyroid carcinoma (FMTC, which may be a variant of MEN2A), and MEN2B. All three phenotypes involve high risk for development of medullary carcinoma of the thyroid (MTC); MEN2A and MEN2B involve an increased risk for pheochromocytoma; MEN2A involves an increased risk for parathyroid adenoma or hyperplasia. Additional features of MEN2B include mucosal neuromas of the lips and tongue, distinctive facies with enlarged lips, ganglioneuromatosis of the gastrointestinal tract, and a marfanoid habitus. MTC typically occurs in early childhood in MEN2B, early adulthood in MEN2A, and middle age in FMTC.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Charis Eng
Gilman Plitt
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Available tests

95 tests are in the database for this condition.

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Clinical tests (95 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDHF12, CDHR16, HSCR1, MEN2A, MEN2B, MTC1, PTC, RET-ELE1, RET
    Summary: ret proto-oncogene

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Imported from Human Phenotype Ontology (HPO)

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