Multiple Endocrine Neoplasia, Type Iib; Men2b

Description

Multiple endocrine neoplasia type IIB (MEN2B) is an autosomal dominant hamartoneoplastic syndrome characterized by aggressive medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal neuromas, and thickened corneal nerves. Most affected individuals have characteristic physical features, including full lips, thickened eyelids, high-arched palate, and marfanoid habitus. Other more variable features include skeletal anomalies and gastrointestinal problems (review by Morrison and Nevin, 1996).For a discussion of genetic heterogeneity of multiple endocrine neoplasia (MEN), see MEN1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Multiple Endocrine Neoplasia, Type Iib; Men2b

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Neoplasm
  • Abnormal facial shape
  • Muscular hypotonia
  • Pain
  • Ptosis
  • High palate

And another 52 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Multiple Endocrine Neoplasia, Type Iib; Men2b Is also known as men iib, multiple endocrine neoplasia, type iii, formerly, wagenmann-froboese syndrome, men3, formerly, neuromata, mucosal, with endocrine tumors.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Multiple Endocrine Neoplasia, Type Iib; Men2b Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
Hereditary Paraganglioma/Pheochromocytoma Panel.

By Baylor Miraca Genetics Laboratories (United States).

SDHA, SDHB, SDHC, SDHD, VHL, SDHAF2, TMEM127, MAX, RET
Specificity
12 %
Genes
100 %
Hereditary Endocrine Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

SDHA, SDHB, SDHC, SDHD, TP53, VHL, CDC73, SDHAF2, TMEM127, MAX, MEN1, PRKAR1A, PTEN, RET
Specificity
8 %
Genes
100 %
Comprehensive Hereditary Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

RUNX1, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, VHL, WT1, CBL, SUFU, CDC73, CDH1, CDK4, CDKN1C, CDKN2A , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
MEN2 (RET) DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

RET
Specificity
100 %
Genes
100 %
Pheochromocytoma Evaluation.

By Athena Diagnostics Inc (United States).

SDHB, VHL, RET
Specificity
34 %
Genes
100 %
Multiple endocrine neoplasia, type 2.

By Center for Human Genetics, Inc (United States).

RET
Specificity
100 %
Genes
100 %
Multiple Endocrine Neoplasia Type 2.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital (United States).

RET
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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