Multiple endocrine neoplasia type 2A

Common Name(s)

Multiple endocrine neoplasia type 2A

Multiple endocrine neoplasia type 2A (MEN 2A) is is an inherited disorder caused by mutations in the RET gene. Individuals with MEN 2A are at high risk of developing medullary carcinoma of the thyroid. About 50% will develop pheochromocytoma, a tumor of the adrenal glands which may increase blood pressure. Individuals with MEN 2A are also at increased risk for parathyroid adenoma or hyperplasia (overgrowth of the parathyroid gland). Occasionally an itchy skin condition called cutaneous lichen amyloidosis also occurs in people with type 2A disease. The condition is inherited in an autosomal dominant manner.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Multiple endocrine neoplasia type 2A" for support, advocacy or research.

AMEND

AMEND aims to inform and support anyone affected by multiple endocrine neoplasia disorders and associated endocrine tumors and syndromes, and to encourage and fund research into the conditions.

http://www.amend.org.uk

Last Updated: 18 Jan 2013

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American Multiple Endocrine Neoplasia

The Hageman Foundation supports patient advocacy for a rare disease called Multiple Endocrine Neoplasia. This disease is so elusive that we are the only non-profit in this country which supports the thousands of patients who have this genetic disease. The Hageman Foundation’s mission is to provide education, support and research, using accurate, up-to-date, medical information on Multiple Endocrine Neoplasia (MEN), otherwise referred to as MEN1, MEN2A, MEN2B, and the Whipple Procedure, which is detailed on our website: HagemanFoundation.org. The Hageman Foundation’s current initiative is to provide educational seminars and an educational website, AMENsupport.org, which is designed for the patients, their families, and their advisors who would otherwise not have the means or wherewithal to obtain the information and guidance.

http://www.amensupport.org/

Last Updated: 15 Feb 2013

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Canadian Multiple Endocrine Neoplasia Society, Inc.

We help people with MEN by referring them to Drs and genetist. We also offer emotional support and literature We can be contacted anytime via email. We do try to find a member close to the newly diagnosed MEN Patient to let them know that "They Are Not Alone"

http://mensociety.ca/

Last Updated: 31 Jan 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Multiple endocrine neoplasia type 2A" for support, advocacy or research.

AMEND

AMEND aims to inform and support anyone affected by multiple endocrine neoplasia disorders and associated endocrine tumors and syndromes, and to encourage and fund research into the conditions.

http://www.amend.org.uk

Last Updated: 18 Jan 2013

View Details
Logo
American Multiple Endocrine Neoplasia

The Hageman Foundation supports patient advocacy for a rare disease called Multiple Endocrine Neoplasia. This disease is so elusive that we are the only non-profit in this country which supports the thousands of patients who have this genetic disease. The Hageman Foundation’s mission is to provide education, support and research, using accurate, up-to-date, medical information on Multiple Endocrine Neoplasia (MEN), otherwise referred to as MEN1, MEN2A, MEN2B, and the Whipple Procedure, which is detailed on our website: HagemanFoundation.org. The Hageman Foundation’s current initiative is to provide educational seminars and an educational website, AMENsupport.org, which is designed for the patients, their families, and their advisors who would otherwise not have the means or wherewithal to obtain the information and guidance.

http://www.amensupport.org/

Last Updated: 15 Feb 2013

View Details
Logo
Canadian Multiple Endocrine Neoplasia Society, Inc.

We help people with MEN by referring them to Drs and genetist. We also offer emotional support and literature We can be contacted anytime via email. We do try to find a member close to the newly diagnosed MEN Patient to let them know that "They Are Not Alone"

http://mensociety.ca/

Last Updated: 31 Jan 2013

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Multiple endocrine neoplasia type 2A" returned 39 free, full-text research articles on human participants. First 3 results:

Multiple endocrine neoplasia type 2A: case report.
 

Author(s): D L Păun, C Poiană, R Petriş, S Radian, R Dănciulescu Miulescu, G Constantinescu, C Orban

Journal: Chirurgia (Bucur). ;108(6):900-3.

 

Multiple endocrine neoplasia type 2A (MEN 2A) is a complex autosomal dominant inherited syndrome characterized by medullary thyroid carcinoma (MTC), pheochromocytoma and primary parathyroid hyperplasia. In patients with only one or two clinical features, identification of a germline ...

Last Updated: 16 Dec 2013

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Non-invasive prenatal diagnosis of multiple endocrine neoplasia type 2A using COLD-PCR combined with HRM genotyping analysis from maternal serum.
 

Author(s): Hada C Macher, Maria A Martinez-Broca, Amalia Rubio-Calvo, Cristina Leon-Garcia, Manuel Conde-Sanchez, Alzenira Costa, Elena Navarro, Juan M Guerrero

Journal: PLoS ONE. 2012 ;7(12):e51024.

 

The multiple endocrine neoplasia type 2A (MEN2A) is a monogenic disorder characterized by an autosomal dominant pattern of inheritance which is characterized by high risk of medullary thyroid carcinoma in all mutation carriers. Although this disorder is classified as a rare disease, ...

Last Updated: 13 Dec 2012

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RET germline mutations identified by exome sequencing in a Chinese multiple endocrine neoplasia type 2A/familial medullary thyroid carcinoma family.
 

Author(s): Xiao-Ping Qi, Ju-Ming Ma, Zhen-Fang Du, Rong-Biao Ying, Jun Fei, Hang-Yang Jin, Jian-Shan Han, Jin-Quan Wang, Xiao-Ling Chen, Chun-Yue Chen, Wen-Ting Liu, Jia-Jun Lu, Jian-Guo Zhang, Xian-Ning Zhang

Journal: PLoS ONE. 2011 ;6(5):e20353.

 

Whole exome sequencing provides a labor-saving and direct means of genetic diagnosis of hereditary disorders in which the pathogenic gene harbors a large cohort of exons. We set out to demonstrate a suitable example of genetic diagnosis of MEN 2A/FMTC (multiple endocrine neoplasia ...

Last Updated: 9 Jun 2011

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Multiple endocrine neoplasia type 2A" returned 2 free, full-text review articles on human participants. First 3 results:

Multiple endocrine neoplasia type 2A in two families with the familial medullary thyroid carcinoma associated G533C mutation of the RET proto-oncogene.
 

Author(s): Melpomeni Peppa, Eleni Boutati, Smaragda Kamakari, Vasilios Pikounis, George Peros, Ioannis G Panayiotides, Theofanis Economopoulos, Sotirios A Raptis, Dimitrios Hadjidakis

Journal: Eur. J. Endocrinol.. 2008 Dec;159(6):767-71.

 

Multiple endocrine neoplasia type 2A (MEN2A) is an autosomal dominant hereditary disorder, associated with a cluster of germline gain-of-function mutations of the RET proto-oncogene (RET), mainly in exons 10-15. The G533C mutation in exon 8 of the RET is rare and has been mainly related ...

Last Updated: 5 Dec 2008

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Sporadic multiple endocrine neoplasia type 2A.
 

Author(s): S Yamashita

Journal: Intern. Med.. 1999 Feb;38(2):80.

 

Last Updated: 18 Jun 1999

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.