ID: 55

Disease Name: Multiple Endocrine Neoplasia Type 2a

Description: A form of multiple endocrine neoplasia characterized by the presence of medullary carcinoma (carcinoma, medullary) of the thyroid gland, and usually with the co-occurrence of pheochromocytoma, producing calcitonin and adrenaline, respectively. Less frequently, it can occur with hyperplasia or adenoma of the parathyroid glands. This disease is due to gain-of-function mutations of the MEN2 gene on chromosome 10(Locus: 10q11.2), also known as the ret proto-oncogene that encodes a receptor protein-tyrosine kinase. It is an autosomal dominant inherited disease.

Disease Type: Clinical conditions associated with amyloidosis

ICD-10 Classification: Endocrine, Nutritional and Metabolic Diseases

Tissue: Skin

Cross References
http://apps.who.int/classifications/icd10/browse/2016/en#/E31

https://meshb.nlm.nih.gov/record/ui?ui=D018813

https://www.omim.org/entry/171400

https://www.ncbi.nlm.nih.gov/pubmed/2576949

https://www.ncbi.nlm.nih.gov/pubmed/2573304

https://www.ncbi.nlm.nih.gov/pubmed/29420094

Alternative Names:
MEA 2a
MEA II
MEA IIa
MEN 2
MEN 2a
MEN II
MEN IIa
MEN-2A Syndrome
MEN2a
Multiple Endocrine Neoplasia Type 2
Multiple Endocrine Neoplasia, Type IIa
Multiple Endocrine Neoplasms Type 2a
Neoplasia, Multiple Endocrine Type 2a
Neoplasms, Multiple Endocrine Type 2a
Pheochromocytoma And Amyloid-Producing Medullary Thyroid Carcinoma
Sipple Syndrome
PTC Syndrome

Precursor Proteins:
P02533 | Keratin, type I cytoskeletal 14
P04264 | Keratin, type II cytoskeletal 1
P13647 | Keratin, type II cytoskeletal 5
P47929 | Galectin-7
P60709 | Actin, cytoplasmic 1
P63261 | Actin, cytoplasmic 2 
P0DOX7 | Immunoglobulin kappa light chain
P0DOX8 | Immunoglobulin lambda-1 light chain


Co-deposited Proteins:
No information available



Link to Amyloidosis: 
	http://83.212.109.111:8084/amyco/42

//