multiple endocrine neoplasia type 2

ORPHA: 653

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with multiple endocrine neoplasia type 2, sourced from HPO and Orphanet clinical annotations.

KyphoscoliosisParaganglioma of head and neckNeoplasm of the liverParathyroid adenomaHypercalcemiaElevated circulating parathyroid hormone levelAbdominal distentionHyperlordosisPrimary hyperparathyroidismNeoplasm of the skeletal systemProminent corneal nerve fibersThick vermilion borderGanglioneuromatosisCervical lymphadenopathyNeuromaAbnormal tongue morphologyNeck painMultiple mucosal neuromasCutaneous lichen amyloidosisNeoplasm of the lungReduced subcutaneous adipose tissueProximal amyotrophyMedullary thyroid carcinomaAnxietyHyperhidrosisPallorPalpitationsDiarrheaHeadacheHypertension associated with pheochromocytomaPheochromocytomaElevated urinary norepinephrine levelElevated circulating calcitonin concentrationElevated urinary epinephrine levelParathyroid hyperplasiaThyroid C cell hyperplasiaElevated urinary catecholamine levelElevated urinary vanillylmandelic acidThyroid noduleCervical neoplasmHypertensive crisisNephrolithiasisMuscle weaknessDisproportionate tall statureConstipationHypercalciuriaAganglionic megacolonJoint hypermobility

Classification & Codes

Orphanet Code

ORPHA:653
multiple endocrine neoplasia type 2
OrphanetORPHA:653
Treatments0 drug(s)
Symptoms on record48 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO