Catalog

Autonomic neuropathy due to multiple endocrine neoplasia type 2b

No MMS code

Link to WHO Definition

Autonomic neuropathy due to multiple endocrine neoplasia type 2b – http://id.who.int/icd/entity/385844402

Multiple endocrine neoplasia type 2b is caused by mutations in the RET proto-oncogene coding for a receptor tyrosine kinase. The syndrome is characterised by medullary thyroid carcinoma, pheochromocytoma, parathyroid hyperplasia or adenoma, intestinal ganglioneuromatosis, mucosal neuromas of the distal tongue and subconjunctivae, marfanoid body habitus, muscle underdevelopment and bony deformities.