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MEA
MCID: MLT074
MIFTS: 57

Multiple Endocrine Neoplasia (MEA)

Categories: Cancer diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Multiple Endocrine Neoplasia

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MalaCards integrated aliases for Multiple Endocrine Neoplasia:

Name: Multiple Endocrine Neoplasia 25 29 55 6 73
Multiple Endocrine Neoplasia Syndrome 37
Multiple Endocrine Neoplasia Type 1 73
Adenomatosis, Familial Endocrine 25
Multiple Endocrine Adenomatosis 25
Familial Endocrine Adenomatosis 25
Endocrine Neoplasia, Multiple 25
Multiple Endocrine Neoplasms 25
Mea 25
Men 25

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Gastrointestinal diseases Endocrine diseases Neuronal diseases
See all MalaCards categories (disease lists)


External Ids:

KEGG 37 H00247
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Summaries for Multiple Endocrine Neoplasia

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Genetics Home Reference : 25 Multiple endocrine neoplasia is a group of disorders that affect the body's network of hormone-producing glands called the endocrine system. Hormones are chemical messengers that travel through the bloodstream and regulate the function of cells and tissues throughout the body. Multiple endocrine neoplasia typically involves tumors (neoplasia) in at least two endocrine glands; tumors can also develop in other organs and tissues. These growths can be noncancerous (benign) or cancerous (malignant). If the tumors become cancerous, the condition can be life-threatening.

MalaCards based summary : Multiple Endocrine Neoplasia, also known as multiple endocrine neoplasia syndrome, is related to multiple endocrine neoplasia, type iib and multiple endocrine neoplasia, type iv, and has symptoms including diarrhea An important gene associated with Multiple Endocrine Neoplasia is RET (Ret Proto-Oncogene), and among its related pathways/superpathways are Neuroscience and G-protein signaling_H-RAS regulation pathway. The drugs Vancomycin and Dexlansoprazole have been mentioned in the context of this disorder. Affiliated tissues include thyroid, pituitary and testes, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 76 The term multiple endocrine neoplasia (MEN) encompasses several distinct syndromes featuring tumors of... more...

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Related Diseases for Multiple Endocrine Neoplasia

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Diseases in the Multiple Endocrine Neoplasia family:

Multiple Endocrine Neoplasia, Type I Multiple Endocrine Neoplasia, Type Iib
Multiple Endocrine Neoplasia, Type Iia Multiple Endocrine Neoplasia, Type Iv

Diseases related to Multiple Endocrine Neoplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 226)
# Related Disease Score Top Affiliating Genes
1 multiple endocrine neoplasia, type iib 34.3 CALCA CDKN1B GDNF MEN1 RET
2 multiple endocrine neoplasia, type iv 34.2 CDKN1B MEN1 PRKAR1A RET
3 multiple endocrine neoplasia, type i 33.8 CDKN1B CHGA MEN1 PRKAR1A RET SDHB
4 multiple endocrine neoplasia, type iia 33.7 CALCA GDNF MEN1 NF1 RET SDHB
5 zollinger-ellison syndrome 32.6 CHGA MEN1
6 pancreatic cholera 32.6 CALCA MEN1
7 neuroendocrine tumor 32.5 CALCA CHGA MEN1
8 thyroid carcinoma, familial medullary 32.3 CALCA CHGA GDNF MEN1 RET
9 hereditary paraganglioma-pheochromocytoma syndromes 31.5 RET SDHB SDHC VHL
10 gastrinoma 30.9 CHGA MEN1
11 pheochromocytoma 30.9 CALCA CHGA GDNF MEN1 NF1 PNMT
12 hyperparathyroidism 30.8 CALCA CDKN1B CHGA MEN1 PRKAR1A RET
13 primary hyperparathyroidism 30.6 CALCA CDKN1B CHGA MEN1 PRKAR1A RET
14 parathyroid carcinoma 30.6 CALCA MEN1 RET
15 carcinoid syndrome 30.6 CALCA CHGA MEN1
16 neuroma 30.6 CALCA GDNF RET
17 familial isolated hyperparathyroidism 30.4 MEN1 RET
18 thyroid cancer 30.4 CALCA CDKN1B CHGA GDNF RET
19 islet cell tumor 30.4 CALCA CHGA MEN1
20 parathyroid adenoma 30.3 CALCA CHGA MEN1 RET
21 carney complex variant 30.3 MEN1 PRKAR1A
22 ganglioneuroma 30.2 CHGA RET
23 constipation 30.1 CALCA GDNF RET
24 medullary sponge kidney 30.1 GDNF RET
25 somatostatinoma 30.1 CALCA CHGA
26 tanycytic ependymoma 30.0 CHGA MEN1
27 duodenal gastrinoma 30.0 CHGA MEN1
28 ectopic cushing syndrome 30.0 MEN1 RET
29 hemangioma 29.9 CHGA RET VHL
30 lipomatosis 29.8 MEN1 PRKAR1A
31 malignant pheochromocytoma 29.7 CALCA CHGA PNMT SDHB
32 paraganglioma 29.5 CHGA NF1 RET SDHB SDHC VHL
33 neurofibromatosis, type iv, of riccardi 29.3 NF1 RET SDHB SDHC VHL
34 von hippel-lindau syndrome 29.1 CHGA MEN1 NF1 PNMT RET SDHB
35 sporadic pheochromocytoma 29.1 NF1 RET SDHB SDHC VHL
36 gastrointestinal stromal tumor 29.0 CHGA MEN1 NF1 SDHB SDHC
37 pituitary adenoma, prolactin-secreting 11.7
38 insulinoma 11.6
39 acromegaly 11.6
40 pancreatic neuroendocrine tumor 11.6
41 gigantism 11.5
42 adrenal carcinoma 11.5
43 vipoma 11.5
44 acth-secreting pituitary adenoma 11.5
45 wdha syndrome 11.5
46 adenoma 10.5
47 amyloidosis 10.5
48 lichen amyloidosis 10.4
49 hirschsprung disease 1 10.3
50 pituitary adenoma 10.3

Graphical network of the top 20 diseases related to Multiple Endocrine Neoplasia:



Diseases related to Multiple Endocrine Neoplasia
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Symptoms & Phenotypes for Multiple Endocrine Neoplasia

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UMLS symptoms related to Multiple Endocrine Neoplasia:


diarrhea

GenomeRNAi Phenotypes related to Multiple Endocrine Neoplasia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.92 NF1 PRKAR1A RET VHL CDKN1B
2 Decreased viability GR00221-A-2 9.92 NF1 PRKAR1A RET VHL
3 Decreased viability GR00221-A-3 9.92 PRKAR1A
4 Decreased viability GR00221-A-4 9.92 NF1 PRKAR1A RET
5 Decreased viability GR00231-A 9.92 RET
6 Decreased viability GR00301-A 9.92 RET VHL
7 Decreased viability GR00402-S-2 9.92 NF1 PRKAR1A RET VHL CDKN1B
8 Decreased sensitivity to paclitaxel GR00112-A-0 8.96 NF1 VHL

MGI Mouse Phenotypes related to Multiple Endocrine Neoplasia:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.24 CDKN1B CHGA GDNF MEN1 NF1 PNMT
2 endocrine/exocrine gland MP:0005379 10.13 CDKN1B CHGA GDNF MEN1 NF1 PRKAR1A
3 homeostasis/metabolism MP:0005376 10.1 CDKN1B CHGA MEN1 NF1 PNMT PRKAR1A
4 mortality/aging MP:0010768 10.07 CDKN1B CHGA GDNF MEN1 NF1 PRKAR1A
5 growth/size/body region MP:0005378 10.06 CDKN1B CHGA GDNF MEN1 NF1 PRKAR1A
6 digestive/alimentary MP:0005381 10.05 CDKN1B GDNF MEN1 NF1 PRKAR1A RET
7 hematopoietic system MP:0005397 10.03 CDKN1B GDNF NF1 PRKAR1A RET SDHB
8 embryo MP:0005380 9.97 CDKN1B MEN1 NF1 PRKAR1A RET VHL
9 craniofacial MP:0005382 9.92 CDKN1B MEN1 NF1 PRKAR1A VHL
10 muscle MP:0005369 9.92 CDKN1B CHGA GDNF MEN1 NF1 PRKAR1A
11 neoplasm MP:0002006 9.8 CDKN1B MEN1 NF1 PRKAR1A RET SDHB
12 normal MP:0002873 9.63 NF1 PNMT PRKAR1A RET SDHB VHL
13 renal/urinary system MP:0005367 9.5 CDKN1B CHGA GDNF NF1 RET SDHB
14 reproductive system MP:0005389 9.17 CDKN1B CHGA GDNF MEN1 PRKAR1A RET
Sources

Drugs & Therapeutics for Multiple Endocrine Neoplasia

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Drugs for Multiple Endocrine Neoplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 62)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vancomycin Approved Phase 4,Not Applicable 1404-90-6 14969 441141
2
Dexlansoprazole Approved, Investigational Phase 4 103577-45-3, 138530-94-6 9578005
3
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
4
Cefazolin Approved Phase 4 25953-19-9 656510 33255
5 Anti-Infective Agents Phase 4,Not Applicable
6 Anti-Bacterial Agents Phase 4,Not Applicable
7 Proton Pump Inhibitors Phase 4
8 Anti-Ulcer Agents Phase 4
9 Antacids Phase 4
10 Gastrointestinal Agents Phase 4,Phase 2,Early Phase 1
11
Somatostatin Approved, Investigational Phase 3,Phase 2 51110-01-1, 38916-34-6 53481605
12 Hormones Phase 3,Phase 2
13 Calcium, Dietary Phase 3
14 Cinacalcet Hydrochloride Phase 3
15 Hormone Antagonists Phase 3,Phase 2
16 Calcimimetic Agents Phase 3
17 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
18
Octreotide Approved, Investigational Phase 2,Early Phase 1 83150-76-9 383414 6400441
19
Nicotinamide Approved, Investigational Phase 2 98-92-0 936
20
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
21
Pertuzumab Approved Phase 2 145040-37-5, 380610-27-5 2540
22
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
23
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
24 Mitogens Phase 2
25 Endothelial Growth Factors Phase 2
26 Antineoplastic Agents, Hormonal Phase 2,Early Phase 1
27 Vitamins Phase 2
28 Nicotinic Acids Phase 2
29 Vitamin B9 Phase 2
30 Trace Elements Phase 2
31 Vitamin B3 Phase 2
32 Folate Phase 2
33 Protein Kinase Inhibitors Phase 2
34 Vitamin B Complex Phase 2
35 Micronutrients Phase 2
36
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
37 gamma-Globulins Phase 1
38 Antibodies Phase 1
39 Immunoglobulins, Intravenous Phase 1
40 Immunoglobulins Phase 1
41 Rho(D) Immune Globulin Phase 1
42 Immunologic Factors Phase 1,Not Applicable
43
Morphine Approved, Investigational 57-27-2 5288826
44
Histamine Approved, Investigational 51-45-6, 75614-87-8 774
45
Ethanol Approved 64-17-5 702
46
Salmon Calcitonin Approved, Investigational 47931-85-1 16129616
47
Levodopa Approved Not Applicable 59-92-7 6047
48
Carbidopa Approved Not Applicable 28860-95-9 34359 38101
49
Dopamine Approved Not Applicable 51-61-6, 62-31-7 681
50
Calcitonin gene-related peptide Investigational 83652-28-2

Interventional clinical trials:

(show all 32)
# Name Status NCT ID Phase Drugs
1 Effect and Safety of Oral Vancomycin in Primary Sclerosing Cholangitis Patients Unknown status NCT02605213 Phase 4 Vancomycin;Placebo
2 Treatment of Zollinger-Ellison Syndrome With Prevacid Completed NCT00204373 Phase 4 Lansoprazole (Prevacid)
3 Pre-operative Prophylaxis With Vancomycin and Cefazolin in Pediatric Cardiovascular Surgery Patients Completed NCT01619982 Phase 4 Cefazolin 25 mg/kg body weight and Vancomycin hydrochloride;Cefazolin 30 mg/kg body weight
4 Cinacalcet to Treat Familial Primary Hyperparathyroidism Completed NCT00325104 Phase 3
5 Non-functioning Pancreatic Neuroendocrine Tumors in MEN1: Somatostatin Analogs Versus NO Treatment Not yet recruiting NCT02705651 Phase 3 Somatostatin-Analog
6 Ziv-Aflibercept in Treating and Computed Tomography Perfusion Imaging in Predicting Response in Patients With Pancreatic Neuroendocrine Tumors That Are Metastatic or Cannot Be Removed by Surgery Completed NCT02101918 Phase 2
7 High Dose Somatostatin Analogues in Neuroendocrine Tumors Completed NCT00990535 Phase 2 Octreotide-LAR
8 Pazopanib Hydrochloride in Treating Patients With Advanced Neuroendocrine Cancer Completed NCT00454363 Phase 2 Pazopanib Hydrochloride
9 Vandetanib to Treat Children and Adolescents With Medullary Thyroid Cancer Active, not recruiting NCT00514046 Phase 1, Phase 2 Vandetanib
10 Sorafenib Tosylate in Treating Patients With Metastatic, Locally Advanced, or Recurrent Medullary Thyroid Cancer Active, not recruiting NCT00390325 Phase 2 Sorafenib Tosylate
11 A Phase II Study of Pertuzumab and Erlotinib for Metastatic or Unresectable Neuroendocrine Tumors Terminated NCT00947167 Phase 2 pertuzumab;erlotinib
12 Intravenous Immunoglobulin (IVIg) for the Treatment of Stiff-Man Syndrome (SMS) Completed NCT00001550 Phase 1 IVIg
13 Veliparib, Capecitabine, and Temozolomide in Patients With Advanced, Metastatic, and Recurrent Neuroendocrine Tumor Withdrawn NCT02831179 Phase 1 Capecitabine;Temozolomide;Veliparib
14 An Investigation of Small Intestinal Carcinoid Carcinoma in Families Unknown status NCT00662168
15 Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene Mutations in Acromegaly Unknown status NCT01902420
16 Vancomycin Associated Red Man Syndrome (RMS) Completed NCT00824122
17 Study of Molecular Pathways in Medullary Thyroid Carcinoma and Correlation of Molecular Data With Clinical Behavior of the MTC in Individuals Patients Completed NCT01424878
18 Genetic Evaluation of Families With Endocrine Cancers Completed NCT01794676
19 Registry for Multiple Endocrine Neoplasia Syndromes: MEN1/MEN2 Recruiting NCT03048279
20 Study and Follow-up of Multiple Endocrine Neoplasia Type 1 Recruiting NCT03348501
21 Type 1 Multiple Endocrine Neoplasia Cohort Study Recruiting NCT03262129
22 Variables That Are Correlated to Developing Multiple Endocrine Neoplasia (MEN) and Pancreatic Neuroendocrine Tumors (PNET) Recruiting NCT03053999
23 Metabolomics and Genetic Diagnosing Pancreatic Neuroendocrine Tumors in MEN1 Patients Recruiting NCT03048266
24 Studies of Inherited Diseases of Metabolism Recruiting NCT00001345
25 Natural History Study of Children and Adults With Medullary Thyroid Cancer Recruiting NCT01660984
26 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
27 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
28 Study of Obese Patients Comparing Two Vancomycin Loading Dose Regimens Recruiting NCT02764359 Not Applicable IV vancomycin
29 Psychosocial Aspects of Multiple Endocrine Neoplasia (MEN) Syndromes Active, not recruiting NCT00501449
30 68Ga-DOTA-TOC PET/CT in Imaging Participants With Neuroendocrine Tumors Active, not recruiting NCT03001349 Early Phase 1 Gallium Ga 68-Edotreotide
31 Overall and Disease Specific Survival in Patients With Confirmed MEN1 With or Without PNET (Pancreatic Neuroendocrine Tumors) Active, not recruiting NCT03043508
32 Clinical Trial of Levodopa/Carbidopa ( Sinemet) Therapy in Angel Man Syndrome Enrolling by invitation NCT03235037 Not Applicable Levodopa

Search NIH Clinical Center for Multiple Endocrine Neoplasia

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Genetic Tests for Multiple Endocrine Neoplasia

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Genetic tests related to Multiple Endocrine Neoplasia:

# Genetic test Affiliating Genes
1 Multiple Endocrine Neoplasia 29
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Anatomical Context for Multiple Endocrine Neoplasia

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MalaCards organs/tissues related to Multiple Endocrine Neoplasia:

41
Thyroid, Pituitary, Testes, Pancreas, Lung, Kidney, Endothelial
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Publications for Multiple Endocrine Neoplasia

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Articles related to Multiple Endocrine Neoplasia:

(show top 50) (show all 1677)
# Title Authors Year
1
Pheochromocytoma in Children and Adolescents With Multiple Endocrine Neoplasia Type 2B. ( 30113649 )
2019
2
Multiple Endocrine Neoplasia Type 2b (MEN2B) in a 9-Year-Old Female. ( 29709408 )
2018
3
A Case Report of Recurrent Severe Peripartum Cardiomyopathy Complicated by Factor V Leiden and Multiple Endocrine Neoplasia Type 1: A Management Conundrum. ( 29652683 )
2018
4
Reply to: Genotype-Phenotype Pancreatic Neuroendocrine Tumor Relationship in Multiple Endocrine Neoplasia Type 1 Patients: A 23 Year Experience at a Single Institution. ( 29859614 )
2018
5
Endoscopic Ultrasound Features of Multiple Endocrine Neoplasia Type 1-Related versus Sporadic Pancreatic Neuroendocrine Tumors: A Single-Center Retrospective Study. ( 29698969 )
2018
6
High Fear of Disease Occurrence Is Associated With Low Quality of Life in Patients With Multiple Endocrine Neoplasia Type 1: Results From the Dutch MEN1 Study Group. ( 29618015 )
2018
7
Genotype-phenotype pancreatic neuroendocrine tumor relationship in multiple endocrine neoplasia type 1 patients: A 23-year experience at a single institution. ( 29122330 )
2018
8
Simultaneous Glucagon and Vasoactive Intestinal Peptide Producing Pancreatic Neuroendocrine Tumors in a Patient With Multiple Endocrine Neoplasia Type 1: A Case Report and Literature Review. ( 29232343 )
2018
9
Letter to the editors regarding: genotype-phenotype pancreatic neuroendocrine tumor relationship in multiple endocrine neoplasia type 1 patients: a 23-year experience at a single institution. ( 29338880 )
2018
10
Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database. ( 29497973 )
2018
11
Prostate adenocarcinoma in a young patient with multiple endocrine neoplasia 2B. ( 29530270 )
2018
12
Nonfunctional pancreatic endocrine tumor in the peripancreatic region in a Chinese patient with multiple endocrine neoplasia type 1. ( 29239255 )
2018
13
Preimplantation genetic diagnosis of multiple endocrine neoplasia type 2A using informative markers identified by targeted sequencing. ( 29378479 )
2018
14
Non-mammalian models of multiple endocrine neoplasia type 2. ( 29348307 )
2018
15
Multiple endocrine neoplasia 2 in Cyprus: evidence for a founder effect. ( 29396759 )
2018
16
Pregnancy on vandetanib in metastatic medullary thyroid carcinoma associated with multiple endocrine neoplasia type 2B. ( 29457255 )
2018
17
Pediatric Multiple Endocrine Neoplasia Type 2B: Clinicopathological Correlation of Perilimbal Mucosal Neuromas and Treatment of Secondary Open-Angle Glaucoma. ( 29765955 )
2018
18
Multiple endocrine neoplasia 2A (MEN 2A) syndrome. ( 29455549 )
2018
19
The evolving clinical, genetic and therapeutic landscape of multiple endocrine neoplasia type 2. ( 29348305 )
2018
20
Recent Topics Around Multiple Endocrine Neoplasia Type 1. ( 29897580 )
2018
21
Multiple endocrine neoplasia type 1 and breast cancer. An association to consider. ( 29910161 )
2018
22
Prophylactic thyroidectomy in children with multiple endocrine neoplasia type 2. ( 29663329 )
2018
23
The Clinical Spectrum of Multiple Endocrine Neoplasia Type 2A with Cutaneous Lichen Amyloidosis in Ethnic Han Chinese. ( 29420094 )
2018
24
Quality of life in multiple endocrine neoplasia type 2A compared with normative and disease populations. ( 29903510 )
2018
25
Re: Multiple Endocrine Neoplasia Type 1. ( 29677893 )
2018
26
Update on multiple endocrine neoplasia Type 1 and 2. ( 29909163 )
2018
27
An assessment of<sup>18</sup>F-FDG PET/CT for thoracic screening and risk stratification of Pulmonary Nodules in Multiple Endocrine Neoplasia Type 1. ( 29446832 )
2018
28
A case of human ocular dirofilariasis in a patient with multiple endocrine neoplasia in Northwest Spain. ( 29223316 )
2018
29
Gastrinoma of Cystic Duct: A Rare Association With Multiple Endocrine Neoplasia Type 1. ( 30344820 )
2018
30
Total and Subtotal Parathyroidectomy in Young Patients With Multiple Endocrine Neoplasia Type 1-Related Primary Hyperparathyroidism: Potential Post-surgical Benefits and Complications. ( 30319541 )
2018
31
Impact of "Tailored" Parathyroidectomy for Treatment of Primary Hyperparathyroidism in Patients with Multiple Endocrine Neoplasia Type 1. ( 29138914 )
2018
32
Multiple endocrine neoplasia type 1 presenting with concurrent insulinoma and prolactinoma in early-adolescence. ( 30127804 )
2018
33
High prevalence of chronic kidney disease in patients with multiple endocrine neoplasia type 1 and improved kidney function after parathyroidectomy. ( 30414705 )
2018
34
Role of positron emission tomography imaging in Multiple Endocrine Neoplasia syndromes. ( 27677981 )
2018
35
RET-mediated modulation of tumor microenvironment and immune response in multiple endocrine neoplasia type 2 (MEN2). ( 28931560 )
2018
36
Patient quality of life and prognosis in multiple endocrine neoplasia type 2. ( 29066504 )
2018
37
Coexisting Thymic and Pulmonary Carcinoid Tumors Associated with Multiple Endocrine Neoplasia Type1. ( 29070772 )
2018
38
Long-Term Survivorship in Multiple Endocrine Neoplasia Type 2B Diagnosed Before and in the New Millennium. ( 29077903 )
2018
39
Expression of p27Kip1 and p18Ink4c in human multiple endocrine neoplasia type 1-related pancreatic neuroendocrine tumors. ( 29134609 )
2018
40
Can We Do Even Better? Preoperative Imaging Overestimates the Tumor Size in Pancreatic Neuroendocrine Neoplasms Associated with Multiple Endocrine Neoplasia Type 1. ( 29143084 )
2018
41
Structure and function of RET in multiple endocrine neoplasia type 2. ( 29175871 )
2018
42
Diagnosis of multiple endocrine neoplasia type 2B and management of its ocular features. ( 29182461 )
2018
43
Multiple Endocrine Neoplasia in Children and the Importance of Screening: Part 1. ( 29802047 )
2018
44
Multiple Endocrine Neoplasia Syndromes from Genetic and Epigenetic Perspectives. ( 30013307 )
2018
45
Multiple Endocrine Neoplasia in Children and the Importance of Screening: Part 2. ( 30017111 )
2018
46
Correction to: Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database. ( 30032405 )
2018
47
Questions and Controversies About Parathyroid Pathophysiology in Children With Multiple Endocrine Neoplasia Type 1. ( 30065698 )
2018
48
Update on Multiple Endocrine Neoplasia Type 2: Focus on Medullary Thyroid Carcinoma. ( 30087948 )
2018
49
Use of Dexmedetomidine in a Parturient With Multiple Endocrine Neoplasia Type 2A Undergoing Adrenalectomy and Thyroidectomy: A Case Report. ( 30095445 )
2018
50
The Reality of Multiple Endocrine Neoplasia Type 2B Diagnosis: Awareness of Unique Physical Appearance Is Important. ( 30135345 )
2018
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Variations for Multiple Endocrine Neoplasia

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ClinVar genetic disease variations for Multiple Endocrine Neoplasia:

6 (show top 50) (show all 358)
# Gene Variation Type Significance SNP ID Assembly Location
1 RET NM_020975.4(RET): c.2372A> T (p.Tyr791Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs77724903 GRCh37 Chromosome 10, 43613908: 43613908
2 RET NM_020975.4(RET): c.2372A> T (p.Tyr791Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs77724903 GRCh38 Chromosome 10, 43118460: 43118460
3 RET NM_020975.4(RET): c.2944C> T (p.Arg982Cys) single nucleotide variant risk factor rs17158558 GRCh37 Chromosome 10, 43620335: 43620335
4 RET NM_020975.4(RET): c.2944C> T (p.Arg982Cys) single nucleotide variant risk factor rs17158558 GRCh38 Chromosome 10, 43124887: 43124887
5 RET NM_020630.4(RET): c.2410G> T (p.Val804Leu) single nucleotide variant Pathogenic rs79658334 GRCh37 Chromosome 10, 43614996: 43614996
6 RET NM_020630.4(RET): c.2410G> T (p.Val804Leu) single nucleotide variant Pathogenic rs79658334 GRCh38 Chromosome 10, 43119548: 43119548
7 RET NM_020975.5(RET): c.*1969T> C single nucleotide variant protective rs3026785 GRCh37 Chromosome 10, 43625686: 43625686
8 RET NM_020975.5(RET): c.*1969T> C single nucleotide variant protective rs3026785 GRCh38 Chromosome 10, 43130238: 43130238
9 RET NM_020975.4(RET): c.874G> A (p.Val292Met) single nucleotide variant Conflicting interpretations of pathogenicity rs34682185 GRCh37 Chromosome 10, 43601830: 43601830
10 RET NM_020975.4(RET): c.874G> A (p.Val292Met) single nucleotide variant Conflicting interpretations of pathogenicity rs34682185 GRCh38 Chromosome 10, 43106382: 43106382
11 RET NM_020975.4(RET): c.1760-12G> A single nucleotide variant Conflicting interpretations of pathogenicity rs377767392 GRCh37 Chromosome 10, 43608992: 43608992
12 RET NM_020975.4(RET): c.1760-12G> A single nucleotide variant Conflicting interpretations of pathogenicity rs377767392 GRCh38 Chromosome 10, 43113544: 43113544
13 RET NM_020975.4(RET): c.2071G> A (p.Gly691Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs1799939 GRCh37 Chromosome 10, 43610119: 43610119
14 RET NM_020975.4(RET): c.2071G> A (p.Gly691Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs1799939 GRCh38 Chromosome 10, 43114671: 43114671
15 RET NM_020975.4(RET): c.2508C> T (p.Ser836=) single nucleotide variant Benign/Likely benign rs1800862 GRCh37 Chromosome 10, 43615094: 43615094
16 RET NM_020975.4(RET): c.2508C> T (p.Ser836=) single nucleotide variant Benign/Likely benign rs1800862 GRCh38 Chromosome 10, 43119646: 43119646
17 RET NM_020975.4(RET): c.2712C> G (p.Ser904=) single nucleotide variant Benign/Likely benign rs1800863 GRCh37 Chromosome 10, 43615633: 43615633
18 RET NM_020975.4(RET): c.2712C> G (p.Ser904=) single nucleotide variant Benign/Likely benign rs1800863 GRCh38 Chromosome 10, 43120185: 43120185
19 MEN1 NM_130799.2(MEN1): c.1296G> A (p.Leu432=) single nucleotide variant Conflicting interpretations of pathogenicity rs138770431 GRCh37 Chromosome 11, 64572560: 64572560
20 MEN1 NM_130799.2(MEN1): c.1296G> A (p.Leu432=) single nucleotide variant Conflicting interpretations of pathogenicity rs138770431 GRCh38 Chromosome 11, 64805088: 64805088
21 RET NM_020975.4(RET): c.166C> A (p.Leu56Met) single nucleotide variant Benign/Likely benign rs145633958 GRCh37 Chromosome 10, 43595999: 43595999
22 RET NM_020975.4(RET): c.166C> A (p.Leu56Met) single nucleotide variant Benign/Likely benign rs145633958 GRCh38 Chromosome 10, 43100551: 43100551
23 RET NM_020630.4(RET): c.200G> A (p.Arg67His) single nucleotide variant Conflicting interpretations of pathogenicity rs192489011 GRCh37 Chromosome 10, 43596033: 43596033
24 RET NM_020630.4(RET): c.200G> A (p.Arg67His) single nucleotide variant Conflicting interpretations of pathogenicity rs192489011 GRCh38 Chromosome 10, 43100585: 43100585
25 MEN1 NM_130799.2(MEN1): c.512G> A (p.Arg171Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs607969 GRCh37 Chromosome 11, 64575505: 64575505
26 MEN1 NM_130799.2(MEN1): c.512G> A (p.Arg171Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs607969 GRCh38 Chromosome 11, 64808033: 64808033
27 MEN1 NM_130799.2(MEN1): c.774G> C (p.Gln258His) single nucleotide variant Uncertain significance rs374659656 GRCh37 Chromosome 11, 64575033: 64575033
28 MEN1 NM_130799.2(MEN1): c.774G> C (p.Gln258His) single nucleotide variant Uncertain significance rs374659656 GRCh38 Chromosome 11, 64807561: 64807561
29 RET NM_020975.4(RET): c.1296A> G (p.Ala432=) single nucleotide variant Benign rs1800860 GRCh37 Chromosome 10, 43606687: 43606687
30 RET NM_020975.4(RET): c.1296A> G (p.Ala432=) single nucleotide variant Benign rs1800860 GRCh38 Chromosome 10, 43111239: 43111239
31 RET NM_020975.4(RET): c.337+9G> A single nucleotide variant Benign/Likely benign rs2435351 GRCh37 Chromosome 10, 43596179: 43596179
32 RET NM_020975.4(RET): c.337+9G> A single nucleotide variant Benign/Likely benign rs2435351 GRCh38 Chromosome 10, 43100731: 43100731
33 RET NM_020975.4(RET): c.375C> A (p.Val125=) single nucleotide variant Benign/Likely benign rs1800859 GRCh37 Chromosome 10, 43597827: 43597827
34 RET NM_020975.4(RET): c.375C> A (p.Val125=) single nucleotide variant Benign/Likely benign rs1800859 GRCh38 Chromosome 10, 43102379: 43102379
35 MEN1 NM_000244.3(MEN1): c.1269C> T (p.Asp423=) single nucleotide variant Benign/Likely benign rs2071313 GRCh37 Chromosome 11, 64572602: 64572602
36 MEN1 NM_000244.3(MEN1): c.1269C> T (p.Asp423=) single nucleotide variant Benign/Likely benign rs2071313 GRCh38 Chromosome 11, 64805130: 64805130
37 MEN1 NM_130799.2(MEN1): c.435C> T (p.Ser145=) single nucleotide variant Benign/Likely benign rs61736636 GRCh37 Chromosome 11, 64577147: 64577147
38 MEN1 NM_130799.2(MEN1): c.435C> T (p.Ser145=) single nucleotide variant Benign/Likely benign rs61736636 GRCh38 Chromosome 11, 64809675: 64809675
39 RET NM_020975.4(RET): c.1264-5C> T single nucleotide variant Benign/Likely benign rs9282835 GRCh37 Chromosome 10, 43606650: 43606650
40 RET NM_020975.4(RET): c.1264-5C> T single nucleotide variant Benign/Likely benign rs9282835 GRCh38 Chromosome 10, 43111202: 43111202
41 RET NM_020975.4(RET): c.2976G> A (p.Pro992=) single nucleotide variant Benign/Likely benign rs528823385 GRCh37 Chromosome 10, 43620367: 43620367
42 RET NM_020975.4(RET): c.2976G> A (p.Pro992=) single nucleotide variant Benign/Likely benign rs528823385 GRCh38 Chromosome 10, 43124919: 43124919
43 RET NM_020975.4(RET): c.2261C> T (p.Thr754Met) single nucleotide variant Uncertain significance rs181856591 GRCh37 Chromosome 10, 43612156: 43612156
44 RET NM_020975.4(RET): c.2261C> T (p.Thr754Met) single nucleotide variant Uncertain significance rs181856591 GRCh38 Chromosome 10, 43116708: 43116708
45 RET NM_020975.4(RET): c.1336G> C (p.Gly446Arg) single nucleotide variant Benign/Likely benign rs115423919 GRCh38 Chromosome 10, 43111279: 43111279
46 RET NM_020975.4(RET): c.1336G> C (p.Gly446Arg) single nucleotide variant Benign/Likely benign rs115423919 GRCh37 Chromosome 10, 43606727: 43606727
47 RET NM_020975.4(RET): c.2037C> T (p.Pro679=) single nucleotide variant Benign/Likely benign rs55862116 GRCh37 Chromosome 10, 43610085: 43610085
48 RET NM_020975.4(RET): c.2037C> T (p.Pro679=) single nucleotide variant Benign/Likely benign rs55862116 GRCh38 Chromosome 10, 43114637: 43114637
49 RET NM_020975.4(RET): c.597C> T (p.Asn199=) single nucleotide variant Conflicting interpretations of pathogenicity rs55810667 GRCh37 Chromosome 10, 43598049: 43598049
50 RET NM_020975.4(RET): c.597C> T (p.Asn199=) single nucleotide variant Conflicting interpretations of pathogenicity rs55810667 GRCh38 Chromosome 10, 43102601: 43102601
Sources

Expression for Multiple Endocrine Neoplasia

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Search GEO for disease gene expression data for Multiple Endocrine Neoplasia.
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Pathways for Multiple Endocrine Neoplasia

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Pathways related to Multiple Endocrine Neoplasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Neuroscience 4
11.79 CALCA NF1 PRKAR1A RET
2
G-protein signaling_H-RAS regulation pathway 22
10.89 GDNF RET
3
Signaling events regulated by Ret tyrosine kinase 1
10.74 GDNF RET
4
Aryl Hydrocarbon Receptor 1
10.48 CDKN1B NF1 RET
5
RNAi Pathway 64
9.73 GDNF RET
Sources

GO Terms for Multiple Endocrine Neoplasia

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Cellular components related to Multiple Endocrine Neoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.96 SDHB SDHC
2 respiratory chain complex II GO:0045273 8.62 SDHB SDHC

Biological processes related to Multiple Endocrine Neoplasia according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.78 CDKN1B GDNF RET VHL
2 negative regulation of cell proliferation GO:0008285 9.62 CDKN1B MEN1 NF1 VHL
3 metanephros development GO:0001656 9.52 GDNF NF1
4 aerobic respiration GO:0009060 9.51 SDHB SDHC
5 tricarboxylic acid cycle GO:0006099 9.49 SDHB SDHC
6 peripheral nervous system development GO:0007422 9.46 GDNF NF1
7 negative regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045736 9.43 CDKN1B MEN1
8 negative regulation of osteoclast differentiation GO:0045671 9.4 CALCA NF1
9 response to pain GO:0048265 9.37 CALCA RET
10 sympathetic nervous system development GO:0048485 9.26 GDNF NF1
11 enteric nervous system development GO:0048484 9.16 GDNF RET
12 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 8.96 NF1 RET
13 MAPK cascade GO:0000165 8.92 GDNF MEN1 NF1 RET

Molecular functions related to Multiple Endocrine Neoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ubiquinone binding GO:0048039 8.96 SDHB SDHC
2 succinate dehydrogenase (ubiquinone) activity GO:0008177 8.62 SDHB SDHC
Sources

Sources for Multiple Endocrine Neoplasia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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