Multiple endocrine neoplasia type 2

Multiple endocrine neoplasia type 2 (MEN2) is a multiple endocrine neoplasia (see this term), a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC; see these terms), in one variant, primary hyperparathyroidism (PHPT). There are three forms: MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC) (see these terms).

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Narrow down the case reports

Total: 64 (papers)

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Matched Phenotype Gene Mutation MeSH

Rank (Similarity)	PMID (PMCID)
1 (22.8%)	23225389	Axonal neuropathy, long limbs and bumpy tongue: think of MEN2B. Ramos-Levi AM, Diaz-Perez A, Sobrido MJ, Pineiro-Hermida S, Blanco-Arias P, Cabezas-Agricola JM, Pascual-Pascual SI, Araujo-Vilar D. Muscle Nerve. 2012;46(6):961-4. [ Show abstract ] [ Hide abstract ]
		Pes cavus
		RET
		p\|SUB\|M\|918\|T;RS#:74799832
		Homo sapiens Limb Deformities, Congenital Male Multiple Endocrine Neoplasia Type 2b Peripheral Nervous System Diseases Tongue Diseases
2 (20.4%)	12089946	[An unusual case of multiple endocrine neoplasia]. Luca IC, Forna N. Rev Med Chir Soc Med Nat Iasi. 2000;104(4):157-9. [ Show abstract ] [ Hide abstract ]
		Hyperparathyroidism Bone pain


		Adult Fatal Outcome Females Homo sapiens Hyperparathyroidism Middle Aged Multiple Endocrine Neoplasia Type 1 Multiple Endocrine Neoplasia Type 2b Pregnancy Pregnancy Complications, Neoplastic Time Factors
3 (4.0%)	31263477	Germline BRCA1 Mutation Detected in a Multiple Endocrine Neoplasia Type 2 Case With RET Codon 634 Mutation. Sarkadi B, Baghy K, Sapi Z, Nyir G, Liko I, Patocs A. Front Genet. 2019;10:544. [ Show abstract ] [ Hide abstract ]
		Thyroid nodule



3 (4.0%)	29860716	A case of pheochromocytoma with negative MIBG scintigraphy, PET-CT and genetic tests (VHL included) and a rare case of post-operative erectile dysfunction. Defeudis G, Fioriti E, Palermo A, Tuccinardi D, Minucci A, Capoluongo E, Pozzilli P, Manfrini S. Hormones (Athens). 2018;17(2):279-284. [ Show abstract ] [ Hide abstract ]
		Hypertension


		Adrenal Gland Neoplasms Adrenalectomy Homo sapiens Male Middle Aged Pheochromocytoma Radionuclide Imaging Von Hippel-Lindau Tumor Suppressor Protein X-Ray Computed Tomography
3 (4.0%)	29518763	Medullary thyroid cancer, leukemia, mesothelioma and meningioma associated with germline APC and RASAL1 variants: a new syndrome? Angelousi A, Settas N, Faucz FR, Lyssikatos C, Quezado M, Nasiri-Ansari N, Stratakis CA, Kassi E. Hormones (Athens). 2017;16(4):423-428. [ Show abstract ] [ Hide abstract ]
		Neoplasm


		Carcinoma, Neuroendocrine Females GTPase-Activating Proteins Germ-Line Mutation Homo sapiens Leukemia, Myelocytic, Acute Meningeal Neoplasms Meningioma Mesothelioma Middle Aged Peritoneal Neoplasms Thyroid Neoplasm
3 (4.0%)	29049491	Dermal Hyperneury and Multiple Sclerotic Fibromas in Multiple Endocrine Neoplasia Type 2A Syndrome. Alegria-Landa V, Jo-Velasco M, Robledo M, Requena L. JAMA Dermatol. 2017;153(12):1298-1301. [ Show abstract ] [ Hide abstract ]
		Hamartoma
		PTEN RET
		p\|SUB\|V\|804\|M;RS#:79658334
		Adult Females Germ-Line Mutation Homo sapiens Middle Aged Multiple Endocrine Neoplasia Type 2a Phenotype Proto-Oncogene Mas Proto-Oncogene Proteins c-ret Skin Neoplasms Thyroid Neoplasm
3 (4.0%)	28760150 (5537993)	Bilateral pheochromocytoma with ganglioneuroma component associated with multiple neuroendocrine neoplasia type 2A: a case report. Efared B, Atsame-Ebang G, Tahirou S, Mazaz K, Hammas N, El Fatemi H, Chbani L. J Med Case Rep. 2017;11(1):208. [ Show abstract ] [ Hide abstract ]
		Hypertension
		RET

		Adrenal Gland Neoplasms Adult Females Ganglioneuroma Headache Homo sapiens Multiple Endocrine Neoplasia Type 2a Neoplasms, Complex and Mixed Pheochromocytoma
3 (4.0%)	28755389 (5838554)	No calcitonin change in a person taking dulaglutide diagnosed with pre-existing medullary thyroid cancer. Sherman SI, Kloos RT, Tuttle RM, Pontecorvi A, Volzke H, Harper K, Vance C, Alston JT, Usborne AL, Sloop KW, Lakshmanan M. Diabet Med. 2018;35(3):381-385. [ Show abstract ] [ Hide abstract ]
		Diabetes mellitus
		GCG GLP1R RET

		Carcinoma, Neuroendocrine Diabetes Mellitus, Non-Insulin-Dependent Drug Substitution Females Glucagon-Like Peptides Homo sapiens Hypoglycemic Agents Immunoglobulin Fc Fragments Middle Aged Proto-Oncogene Mas Recombinant Fusion Proteins Thyroid Neoplasm
3 (4.0%)	28319498	FDOPA Patterns in Adrenal Glands: A Pictorial Essay. Moreau A, Giraudet AL, Kryza D, Borson-Chazot F, Bournaud-Salinas C, Mognetti T, Lifante JC, Combemale P, Giammarile F, Houzard C. Clin Nucl Med. 2017;42(5):379-382. [ Show abstract ] [ Hide abstract ]
		Pheochromocytoma


		Adrenal Gland Neoplasms Adrenal Glands Dopa Females Fluorine Radioisotopes Homo sapiens Male Middle Aged Pheochromocytoma Radiopharmaceuticals
3 (4.0%)	27869424	[Study of Medullary Thyroid Carcinoma from a proband]. Morlan Herrador L, de Arriba A, Miguel G, Ferrera M, Labarta JI. Arch Argent Pediatr. 2016;114(6):e421-e424. [ Show abstract ] [ Hide abstract ]
		Carcinoma
		RET

		Carcinoma, Neuroendocrine Child, Preschool Females Homo sapiens Thyroid Neoplasm

Phenotype(s) retrieved from Orphanet

Total: 62

HPO ID	Term	Frequency
HP:0002014	Diarrhea	Very frequent (99-80%)
HP:0002865	Medullary thyroid carcinoma	Very frequent (99-80%)
HP:0000157	Abnormality of the tongue	Frequent (79-30%)
HP:0000179	Thick lower lip vermilion	Frequent (79-30%)
HP:0000492	Abnormal eyelid morphology	Frequent (79-30%)
HP:0000716	Depressivity	Frequent (79-30%)
HP:0000739	Anxiety	Frequent (79-30%)
HP:0000819	Diabetes mellitus	Frequent (79-30%)
HP:0000822	Hypertension	Frequent (79-30%)
HP:0000958	Dry skin	Frequent (79-30%)
HP:0002019	Constipation	Frequent (79-30%)
HP:0002027	Abdominal pain	Frequent (79-30%)
HP:0002615	Hypotension	Frequent (79-30%)
HP:0002666	Pheochromocytoma	Frequent (79-30%)
HP:0002716	Lymphadenopathy	Frequent (79-30%)
HP:0003198	Myopathy	Frequent (79-30%)
HP:0007400	Irregular hyperpigmentation	Frequent (79-30%)
HP:0008221	Adrenal hyperplasia	Frequent (79-30%)
HP:0011830	Abnormal oral mucosa morphology	Frequent (79-30%)
HP:0012378	Fatigue	Frequent (79-30%)
HP:0100631	Neoplasm of the adrenal gland	Frequent (79-30%)
HP:0100735	Hypertensive crisis	Frequent (79-30%)
HP:0000098	Tall stature	Occasional (29-5%)
HP:0000175	Cleft palate	Occasional (29-5%)
HP:0000767	Pectus excavatum	Occasional (29-5%)
HP:0000787	Nephrolithiasis	Occasional (29-5%)
HP:0000843	Hyperparathyroidism	Occasional (29-5%)
HP:0000980	Pallor	Occasional (29-5%)
HP:0000988	Skin rash	Occasional (29-5%)
HP:0000989	Pruritus	Occasional (29-5%)
HP:0001012	Multiple lipomas	Occasional (29-5%)
HP:0001131	Corneal dystrophy	Occasional (29-5%)
HP:0001166	Arachnodactyly	Occasional (29-5%)
HP:0001252	Muscular hypotonia	Occasional (29-5%)
HP:0001324	Muscle weakness	Occasional (29-5%)
HP:0001337	Tremor	Occasional (29-5%)
HP:0001761	Pes cavus	Occasional (29-5%)
HP:0001824	Weight loss	Occasional (29-5%)
HP:0001944	Dehydration	Occasional (29-5%)
HP:0002017	Nausea and vomiting	Occasional (29-5%)
HP:0002039	Anorexia	Occasional (29-5%)
HP:0002251	Aganglionic megacolon	Occasional (29-5%)
HP:0002650	Scoliosis	Occasional (29-5%)
HP:0002653	Bone pain	Occasional (29-5%)
HP:0002808	Kyphosis	Occasional (29-5%)
HP:0003005	Ganglioneuroma	Occasional (29-5%)
HP:0003072	Hypercalcemia	Occasional (29-5%)
HP:0003100	Slender long bone	Occasional (29-5%)
HP:0003307	Hyperlordosis	Occasional (29-5%)
HP:0003401	Paresthesia	Occasional (29-5%)
HP:0004370	Abnormality of temperature regulation	Occasional (29-5%)
HP:0004372	Reduced consciousness/confusion	Occasional (29-5%)
HP:0005214	Intestinal obstruction	Occasional (29-5%)
HP:0005692	Joint hyperflexibility	Occasional (29-5%)
HP:0006443	Patellar aplasia	Occasional (29-5%)
HP:0007565	Multiple cafe-au-lait spots	Occasional (29-5%)
HP:0009830	Peripheral neuropathy	Occasional (29-5%)
HP:0010741	Pedal edema	Occasional (29-5%)
HP:0011675	Arrhythmia	Occasional (29-5%)
HP:0012649	Increased inflammatory response	Occasional (29-5%)
HP:0100835	Benign neoplasm of the central nervous system	Occasional (29-5%)
HP:0200008	Intestinal polyposis	Occasional (29-5%)

Phenotype(s) retrieved from case reports

Total: 7

HPO ID	Term	# of case reports
HP:0002666	Pheochromocytoma	21
HP:0000843	Hyperparathyroidism	6
HP:0002668	Paraganglioma	5
HP:0008200	Primary hyperparathyroidism	2
HP:0030430	Neuroma	2
HP:0001289	Confusion	1
HP:0030731	Carcinoma	1

Causative gene(s) retrieved from Orphanet

Total: 0

Gene Symbol	Gene Name	Entrez Gene ID