PedAM

Pediatric Disease Annotations & Medicines


	multiple endocrine neoplasia

Disease ID	431
Disease	multiple endocrine neoplasia
Definition	group of specific, familial syndromes characterized by simultaneous neoplastic transformation of multiple endocrine tissues, typically the parathyroid glands, pancreatic islets, and anterior pituitary.
Synonym	adenomatoses, familial endocrine adenomatoses, multiple endocrine adenomatosis, familial endocrine adenomatosis, multiple endocrine adenopathies, multiple endocrine adenopathy, multiple endocrine endocrine adenomatoses, familial endocrine adenomatoses, multiple endocrine adenomatosis endocrine adenomatosis, familial endocrine adenopathies, multiple endocrine adenopathy, multiple endocrine multiple neoplasia endocrine neopl multiple endocrine neoplasia, multiple endocrine neoplasms, multiple familial endocrine adenomatoses familial endocrine adenomatosis familial polyendocrine adenomatosis mea - multiple endocrine adenomatosis mea syndrome meas men - multiple endocrine neoplasia men syndrome multiple endocrine adenoma multiple endocrine adenomas multiple endocrine adenomas (morphologic abnormality) multiple endocrine adenomatoses multiple endocrine adenomatosis multiple endocrine adenopathies multiple endocrine adenopathy multiple endocrine neopl multiple endocrine neopl syndromes multiple endocrine neoplasia [disease/finding] multiple endocrine neoplasia syndrome multiple endocrine neoplasia syndromes multiple endocrine neoplasias multiple endocrine neoplasm multiple endocrine neoplasms multiple endocrine tumasia neopl multiple endocrine neoplasia, multiple endocrine neoplasms, multiple endocrine
Orphanet	ORPHANET:276161
DOID	DOID:3125
UMLS	C0027662
MeSH	D009377
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:70) C0027662 \| multiple endocrine neoplasia \| 70 C0025268 \| multiple endocrine neoplasia type 2 \| 21 C0025267 \| multiple endocrine neoplasia type 1 \| 21 C0020502 \| hyperparathyroidism \| 16 C0031511 \| pheochromocytoma \| 13 C0221002 \| primary hyperparathyroidism \| 10 C0007115 \| thyroid ca \| 6 C0206754 \| neuroendocrine tumor \| 6 C0206754 \| neuroendocrine tumors \| 5 C0242363 \| pancreatic endocrine tumor \| 4 C0027662 \| multiple endocrine neoplasia syndrome \| 4 C0025268 \| multiple endocrine neoplasia type 2a \| 4 C0021670 \| insulinomas \| 4 C0549473 \| thyroid carcinoma \| 4 C0017150 \| gastrinoma \| 3 C0238462 \| medullary thyroid carcinoma \| 3 C0027662 \| multiple endocrine neoplasia syndromes \| 3 C0023798 \| lipoma \| 2 C0001430 \| adenoma \| 2 C0025269 \| multiple endocrine neoplasia type 2b \| 2 C0238462 \| medullary thyroid cancer \| 2 C0021670 \| insulinoma \| 2 C0017150 \| gastrinomas \| 2 C0007115 \| thyroid cancer \| 2 C0011847 \| diabetes \| 1 C0043515 \| zollinger-ellison syndrome \| 1 C0494165 \| liver metastases \| 1 C0040128 \| thyroid disease \| 1 C0027662 \| multiple endocrine neoplasias \| 1 C0001418 \| adenocarcinoma \| 1 C0027662 \| multiple endocrine neoplasm \| 1 C0021053 \| immune disorder \| 1 C0020437 \| hypercalcemia \| 1 C0281361 \| pancreatic adenocarcinoma \| 1 C0011993 \| vipomas \| 1 C0030517 \| parathyroid disease \| 1 C0206655 \| alveolar rhabdomyosarcoma \| 1 C0025202 \| malignant melanoma \| 1 C0242379 \| lung cancer \| 1 C0031511 \| phaeochromocytoma \| 1 C0024299 \| lymphoma \| 1 C0001621 \| adrenal disease \| 1 C1378050 \| oncocytoma \| 1 C0021053 \| immune disorders \| 1 C0019360 \| zoster \| 1 C0022658 \| renal disease \| 1 C0158699 \| renal agenesis \| 1 C0162299 \| thyroid cyst \| 1 C0206754 \| neuroendocrine neoplasm \| 1 C1621895 \| adrenal hyperplasia \| 1 C0030305 \| pancreatitis \| 1 C0242363 \| pancreatic endocrine tumour \| 1 C0031511 \| adrenal pheochromocytoma \| 1 C0010481 \| cushing's syndrome \| 1 C0011570 \| depression \| 1 C0027858 \| neuromas \| 1 C0031511 \| pheochromocytomas \| 1 C0035412 \| rhabdomyosarcoma \| 1 C0687150 \| parathyroid carcinoma \| 1 C0334634 \| mantle cell lymphoma \| 1 C0006142 \| breast cancer \| 1 C0008049 \| varicella \| 1 C0022735 \| hypogonadotropic hypogonadism \| 1 C0030421 \| paraganglioma \| 1 C0027858 \| neuroma \| 1 C0206686 \| adrenocortical carcinoma \| 1 C0020619 \| hypogonadism \| 1 C0014130 \| endocrinopathy \| 1 C0032000 \| pituitary adenoma \| 1 C1333321 \| duodenal gastrinoma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) RET \| 5979 \| CLINVAR;CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 4221 \| MEN1 \| infer 5979 \| RET \| infer
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	431
Disease	multiple endocrine neoplasia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:45) HP:0000843 \| Hyperparathyroidism \| 16 HP:0002666 \| Pheochromocytoma \| 13 HP:0002664 \| Neoplasia \| 10 HP:0100570 \| Carcinoid tumor \| 10 HP:0008200 \| Primary hyperparathyroidism \| 10 HP:0030731 \| Carcinoma \| 6 HP:0002890 \| Thyroid carcinoma \| 4 HP:0030405 \| Pancreatic endocrine tumor \| 4 HP:0002865 \| Medullary thyroid carcinoma \| 3 HP:0002888 \| Ependymoma \| 2 HP:0012197 \| Insulinoma \| 2 HP:0012032 \| Lipoma \| 2 HP:0008231 \| Macronodular adrenal hyperplasia \| 1 HP:0000135 \| Hypogonadism \| 1 HP:0030404 \| Glucagonoma \| 1 HP:0010615 \| Angiofibromas \| 1 HP:0002893 \| Pituitary adenoma \| 1 HP:0002894 \| Neoplasia of the pancreas \| 1 HP:0006779 \| Alveolar rhabdomyosarcoma \| 1 HP:0002665 \| Lymphoma \| 1 HP:0000820 \| Thyroid abnormality \| 1 HP:0003002 \| Breast carcinoma \| 1 HP:0008208 \| Parathyroid hyperplasia \| 1 HP:0002901 \| Hypocalcemia \| 1 HP:0006780 \| Parathyroid Cancer \| 1 HP:0002527 \| Falls \| 1 HP:0006744 \| Adrenal carcinoma \| 1 HP:0030445 \| Lung carcinoid tumor \| 1 HP:0008221 \| Enlarged adrenal glands \| 1 HP:0002859 \| Rhabdomyosarcoma \| 1 HP:0002044 \| Zollinger-Ellison syndrome \| 1 HP:0100634 \| Neuroendocrine neoplasia \| 1 HP:0001733 \| Pancreatic inflammation \| 1 HP:0000104 \| Renal agenesis \| 1 HP:0008249 \| Large thyroid \| 1 HP:0002239 \| Gastrointestinal hemorrhage \| 1 HP:0002251 \| Hirschsprung megacolon \| 1 HP:0003072 \| Hypercalcemia \| 1 HP:0030430 \| Pinched nerve \| 1 HP:0002861 \| Melanoma \| 1 HP:0006748 \| Adrenal pheochromocytoma \| 1 HP:0000716 \| Depression \| 1 HP:0002668 \| Paragangliomas \| 1 HP:0002584 \| Intestinal hemorrhage \| 1 HP:0006725 \| Pancreatic adenocarcinoma \| 1

Disease ID	431
Disease	multiple endocrine neoplasia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:32) C2697417 \| pheochromocytoma C2676454 \| h syndrome C1839611 \| n syndrome C1833921 \| familial medullary thyroid carcinoma C1420725 \| thymoma C1336746 \| thymic carcinoid C0917996 \| cerebral aneurysm C0878544 \| cardiomyopathy C0796095 \| c syndrome C0546393 \| cutaneous macular amyloidosis C0376293 \| stigmata C0334108 \| polyposis C0271846 \| familial hyperparathyroidism C0242363 \| islet cell tumors C0238462 \| medullary thyroid carcinoma C0238462 \| medullary carcinoma C0221002 \| primary hyperparathyroidism C0153687 \| cutaneous metastasis C0043515 \| zollinger-ellison syndrome C0043515 \| gastrinoma syndrome C0032002 \| pituitary disease C0032000 \| pituitary adenomas C0031511 \| pheochromocytomas C0031511 \| phaeochromocytoma C0030517 \| parathyroid disease C0025202 \| malignant melanoma C0021670 \| insulinomas C0021670 \| insulinoma C0017150 \| gastrinomas C0007193 \| dilated cardiomyopathy C0007095 \| carcinoids C0007095 \| carcinoid tumors
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:15) C0031511 \| pheochromocytoma \| 13 C0221002 \| primary hyperparathyroidism \| 10 C1336746 \| thymic carcinoid \| 5 C0238462 \| medullary thyroid carcinoma \| 3 C0021670 \| insulinomas \| 3 C0017150 \| gastrinomas \| 2 C0796095 \| c syndrome \| 2 C1839611 \| n syndrome \| 2 C0021670 \| insulinoma \| 2 C0031511 \| pheochromocytomas \| 1 C0031511 \| phaeochromocytoma \| 1 C0007095 \| carcinoids \| 1 C0025202 \| malignant melanoma \| 1 C0043515 \| zollinger-ellison syndrome \| 1 C0030517 \| parathyroid disease \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:10)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs17158558	NA	5979	RET	umls:C0027662	CLINVAR	NA	0.30480217	NA	RET	10	43124887	C	T
rs1799939	22189301	5979	RET	umls:C0027662	BeFree	A polymorphism, RETp (G691S), in the intracellular juxtamembrane domain of RET, which enhances signaling by glial cell-derived neurotrophic factor has been described and studied previously in pancreatic cancer, medullary thyroid cancer, the multiple endocrine neoplasia 2 syndromes, and recently in cutaneous malignant melanoma.	0.30480217	2012	RET	10	43114671	G	A
rs1799939	22189301	2668	GDNF	umls:C0027662	BeFree	A polymorphism, RETp (G691S), in the intracellular juxtamembrane domain of RET, which enhances signaling by glial cell-derived neurotrophic factor has been described and studied previously in pancreatic cancer, medullary thyroid cancer, the multiple endocrine neoplasia 2 syndromes, and recently in cutaneous malignant melanoma.	0.000814326	2012	RET	10	43114671	G	A
rs377767406	16839264	5979	RET	umls:C0027662	BeFree	A rare extracellular D631Y germline mutation of the RET proto-oncogene in two Korean families with multiple endocrine neoplasia 2A.	0.30480217	2006	RET	10	43114491	G	A,T
rs74799832	15485908	6774	STAT3	umls:C0027662	BeFree	In multiple endocrine neoplasia 2B (MEN-2B) patients expressing RET(M918T), nuclear enrichment of STAT3 and elevated expression of CXCR4 was detected in metastatic thyroid C-cell carcinoma in the liver.	0.000271442	2004	RET	10	43121968	T	C
rs74799832	7559902	5979	RET	umls:C0027662	BeFree	The hereditary multiple endocrine neoplasia syndromes types 2A and B (MEN 2A and B) were recently linked to germline mutations in the RET proto-oncogene, altering one of five cysteine residues in exon 10 or 11 (MEN 2A), or substituting a methionine for a threonine at codon 918 in exon 16 (MEN 2B).	0.30480217	1995	RET	10	43121968	T	C
rs74799832	15485908	5979	RET	umls:C0027662	BeFree	In multiple endocrine neoplasia 2B (MEN-2B) patients expressing RET(M918T), nuclear enrichment of STAT3 and elevated expression of CXCR4 was detected in metastatic thyroid C-cell carcinoma in the liver.	0.30480217	2004	RET	10	43121968	T	C
rs74799832	15485908	7852	CXCR4	umls:C0027662	BeFree	In multiple endocrine neoplasia 2B (MEN-2B) patients expressing RET(M918T), nuclear enrichment of STAT3 and elevated expression of CXCR4 was detected in metastatic thyroid C-cell carcinoma in the liver.	0.000271442	2004	RET	10	43121968	T	C
rs77558292	16343103	5979	RET	umls:C0027662	BeFree	Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with pheochromocytoma and reduced penetrance of medullary thyroid carcinoma.	0.30480217	2005	RET	10	43113621	T	A,C,G
rs77939446	16343103	5979	RET	umls:C0027662	BeFree	Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with pheochromocytoma and reduced penetrance of medullary thyroid carcinoma.	0.30480217	2005	RET	10	43113622	G	A,C,T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:1)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0027662	cimetidine	D002927	51481-61-9	multiple endocrine neoplasia	MESH:D009377	therapeutic	420338

FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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