Multiple Endocrine Neoplasia, Type Iia; Men2a

Description

Multiple endocrine neoplasia type IIA is an autosomal dominant syndrome of multiple endocrine neoplasms, including medullary thyroid carcinoma (MTC), pheochromocytoma, and parathyroid adenomas. MEN2B (OMIM ), characterized by MTC with or without pheochromocytoma and with characteristic clinical abnormalities such as ganglioneuromas of the lips, tongue and colon, but without hyperparathyroidism, is also caused by mutation in the RET gene (summary by Lore et al., 2001).For a discussion of genetic heterogeneity of multiple endocrine neoplasia, see MEN1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Multiple Endocrine Neoplasia, Type Iia; Men2a

  • Neoplasm
  • Hypertension
  • Carcinoma
  • Aganglionic megacolon
  • Hyperparathyroidism
  • Increased circulating cortisol level
  • Upper limb undergrowth
  • Neoplasm of the endocrine system
  • Parathyroid adenoma
  • Thyroid carcinoma

And another 7 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 Iia; Men2a Is also known as pheochromocytoma and amyloid-producing medullary thyroid carcinoma, sipple syndrome, ptc syndrome.

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 Iia; Men2a 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 Genetic Syndrome Finder

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