Multiple endocrine neoplasia type 2A
- Synonyms
- MEN 2A; MEN-2A syndrome; MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; PTC SYNDROME; Pheochromocytoma and amyloid producing medullary thyroid carcinoma; SIPPLE SYNDROME
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of metabolism/homeostasis
- Cutaneous lichen amyloidosis
Cutaneous lichen amyloidosis
- MedGen UID: 812175
- Concept ID: C3805845
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Elevated circulating calcitonin concentration
Elevated circulating calcitonin concentration
- MedGen UID: 401432
- Concept ID: C1868394
- Finding: Finding
Abnormality of metabolism/homeostasis
- Cutaneous lichen amyloidosis
- Abnormality of the cardiovascular system
- Hypertensive crisis
Hypertensive crisis
- MedGen UID: 5701
- Concept ID: C0020546
- Finding: Finding
Abnormality of the cardiovascular system
- Hypertensive disorder
Hypertensive disorder
- MedGen UID: 6969
- Concept ID: C0020538
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Palpitations
Palpitations
- MedGen UID: 14579
- Concept ID: C0030252
- Finding: Finding
Abnormality of the cardiovascular system
- Hypertensive crisis
- Abnormality of the digestive system
- Aganglionic megacolon
Aganglionic megacolon
- MedGen UID: 5559
- Concept ID: C0019569
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Aganglionic megacolon
- Abnormality of the endocrine system
- Hyperparathyroidism
Hyperparathyroidism
- MedGen UID: 6967
- Concept ID: C0020502
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Increased circulating cortisol level
Increased circulating cortisol level
- MedGen UID: 871175
- Concept ID: C4025651
- Finding: Finding
Abnormality of the endocrine system
- Thyroid C cell hyperplasia
Thyroid C cell hyperplasia
- MedGen UID: 90975
- Concept ID: C0342190
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Thyroid nodule
Thyroid nodule
- MedGen UID: 21547
- Concept ID: C0040137
- Finding: Neoplastic Process
Abnormality of the endocrine system
- Hyperparathyroidism
- Abnormality of the genitourinary system
- Elevated urinary dopamine level
Elevated urinary dopamine level
- MedGen UID: 868696
- Concept ID: C4023099
- Finding: Finding
Abnormality of the genitourinary system
- Elevated urinary epinephrine level
Elevated urinary epinephrine level
- MedGen UID: 358197
- Concept ID: C1868393
- Finding: Finding
Abnormality of the genitourinary system
- Elevated urinary norepinephrine level
Elevated urinary norepinephrine level
- MedGen UID: 1841548
- Concept ID: C5826344
- Finding: Finding
Abnormality of the genitourinary system
- Elevated urinary vanillylmandelic acid
Elevated urinary vanillylmandelic acid
- MedGen UID: 866485
- Concept ID: C4020735
- Finding: Finding
Abnormality of the genitourinary system
- Elevated urinary dopamine level
- Abnormality of the nervous system
- Headache
Headache
- MedGen UID: 9149
- Concept ID: C0018681
- Finding: Sign or Symptom
Abnormality of the nervous system
- Headache
- Constitutional symptom
- Chest pain
Chest pain
- MedGen UID: 2992
- Concept ID: C0008031
- Finding: Sign or Symptom
Constitutional symptom
- Chest pain
- Neoplasm
- Medullary thyroid carcinoma
Medullary thyroid carcinoma
- MedGen UID: 66772
- Concept ID: C0238462
- Finding: Neoplastic Process
Neoplasm
- Parathyroid gland adenoma
Parathyroid gland adenoma
- MedGen UID: 75502
- Concept ID: C0262587
- Finding: Neoplastic Process
Neoplasm
- Pheochromocytoma
Pheochromocytoma
- MedGen UID: 18419
- Concept ID: C0031511
- Finding: Neoplastic Process
Neoplasm
- Medullary thyroid carcinoma
- NCI PDQ, Endocrine and Neuroendocrine Neoplasia geneticsGenetics of Endocrine and Neuroendocrine Neoplasias (PDQ®): Health Professional Version
- NCI PDQ, Cancer Genetics CounselingCancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version
- EuroGenetest, 2011Clinical utility gene card for: multiple endocrine neoplasia type 2.
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