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MCID: MLT074
MIFTS: 55

Multiple Endocrine Neoplasia

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


External Ids:

KEGG 37 H00247
UMLS 73 C0027662
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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 Lansoprazole 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 213)
# Related Disease Score Top Affiliating Genes
1 multiple endocrine neoplasia, type iib 34.2 CALCA GDNF MEN1 RET
2 multiple endocrine neoplasia, type iv 33.9 CDKN1B MEN1 PRKAR1A RET
3 pancreatic cholera 33.0 CALCA MEN1
4 zollinger-ellison syndrome 33.0 CHGA MEN1
5 neuroendocrine tumor 32.6 CALCA CHGA MEN1
6 multiple endocrine neoplasia, type i 32.0 CDKN1B CHGA MEN1 PRKAR1A RET SDHB
7 multiple endocrine neoplasia, type iia 31.7 CALCA GDNF MEN1 NF1 RET SDHB
8 thyroid carcinoma, familial medullary 31.6 CALCA CHGA GDNF MEN1 RET
9 gastrinoma 31.3 CHGA MEN1
10 parathyroid carcinoma 30.9 CALCA MEN1 RET
11 carcinoid syndrome 30.7 CALCA CHGA MEN1
12 hyperparathyroidism 2 with jaw tumors 30.7 MEN1 RET
13 duodenal gastrinoma 30.6 CHGA MEN1
14 islet cell tumor 30.6 CALCA CHGA MEN1
15 medullary sponge kidney 30.6 GDNF RET
16 hereditary paraganglioma-pheochromocytoma syndromes 30.5 RET SDHB SDHC VHL
17 tanycytic ependymoma 30.4 CHGA MEN1
18 ectopic cushing syndrome 30.4 MEN1 RET
19 somatostatinoma 30.4 CALCA CHGA
20 ganglioneuroma 30.4 CHGA RET
21 thyroid cancer 30.2 CALCA CDKN1B CHGA RET
22 constipation 30.2 CALCA GDNF RET
23 carney complex variant 30.2 CDKN1B MEN1 PRKAR1A
24 parathyroid adenoma 30.1 CALCA CHGA MEN1 RET
25 neuroma 29.8 CALCA GDNF NF1 RET
26 hyperparathyroidism 29.6 CALCA CDKN1B CHGA MEN1 PRKAR1A RET
27 primary hyperparathyroidism 29.4 CALCA CDKN1B CHGA MEN1 PRKAR1A RET
28 lipomatosis 28.9 MEN1 PRKAR1A SDHB
29 neurofibromatosis, type iv, of riccardi 27.7 NF1 RET SDHB SDHC VHL
30 phaeochromocytoma 27.6 CHGA NF1 RET SDHB SDHC VHL
31 paraganglioma 27.4 CHGA NF1 RET SDHB SDHC VHL
32 sporadic pheochromocytoma 27.4 NF1 RET SDHB SDHC VHL
33 gastrointestinal stromal tumor 27.3 CHGA MEN1 NF1 SDHB SDHC
34 pheochromocytoma 26.8 CALCA CHGA GDNF MEN1 NF1 PNMT
35 von hippel-lindau syndrome 25.9 CHGA MEN1 NF1 PNMT RET SDHB
36 pituitary adenoma, prolactin-secreting 11.5
37 insulinoma 11.4
38 pancreatic neuroendocrine tumor 11.4
39 acromegaly 11.4
40 vipoma 11.4
41 gigantism 11.4
42 adrenal carcinoma 11.4
43 wdha syndrome 11.4
44 acth-secreting pituitary adenoma 11.1
45 thyroiditis 10.7
46 pancreatic somatostatinoma 10.7 CALCA MEN1
47 hypoganglionosis 10.6 GDNF RET
48 pancreatitis 10.6
49 atypical follicular adenoma 10.6 CALCA CHGA
50 type i 10.6

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 VHL RET NF1 PRKAR1A CDKN1B
2 Decreased viability GR00221-A-2 9.92 VHL RET NF1 PRKAR1A
3 Decreased viability GR00221-A-3 9.92 PRKAR1A
4 Decreased viability GR00221-A-4 9.92 RET NF1 PRKAR1A
5 Decreased viability GR00231-A 9.92 RET
6 Decreased viability GR00301-A 9.92 VHL RET
7 Decreased viability GR00402-S-2 9.92 RET VHL NF1 PRKAR1A 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 PRKAR1A RET VHL CDKN1B MEN1 NF1
9 craniofacial MP:0005382 9.92 CDKN1B MEN1 NF1 PRKAR1A VHL
10 muscle MP:0005369 9.87 CDKN1B GDNF MEN1 NF1 PRKAR1A RET
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 GDNF NF1 RET SDHB VHL CDKN1B
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 441141 14969
2
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
3
Cefazolin Approved Phase 4 25953-19-9 656510 33255
4
Dexlansoprazole Approved, Investigational Phase 4 138530-94-6, 103577-45-3 9578005
5 Anti-Bacterial Agents Phase 4,Not Applicable
6 Anti-Infective Agents Phase 4,Not Applicable
7 Gastrointestinal Agents Phase 4,Phase 2
8 Antacids Phase 4
9 Proton Pump Inhibitors Phase 4
10 Anti-Ulcer Agents Phase 4
11
Somatostatin Approved, Investigational Phase 3,Phase 2 38916-34-6, 51110-01-1 53481605
12 Hormones Phase 3,Phase 2
13 Cinacalcet Hydrochloride Phase 3
14 Hormone Antagonists Phase 3,Phase 2
15 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
16 Calcimimetic Agents Phase 3
17 Calcium, Dietary Phase 3
18
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
19
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
20
Pertuzumab Approved Phase 2 145040-37-5, 380610-27-5 2540
21
Nicotinamide Approved, Investigational, Nutraceutical Phase 2 98-92-0 936
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
27 Micronutrients Phase 2
28 Nicotinic Acids Phase 2
29 Trace Elements Phase 2
30 Vitamin B Complex Phase 2
31 Vitamins Phase 2
32 Protein Kinase Inhibitors Phase 2
33
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
34 Folate Nutraceutical Phase 2
35 Vitamin B3 Nutraceutical Phase 2
36 Vitamin B9 Nutraceutical Phase 2
37 Rho(D) Immune Globulin Phase 1
38 gamma-Globulins Phase 1
39 Antibodies Phase 1
40 Immunoglobulins Phase 1
41 Immunoglobulins, Intravenous Phase 1
42
Morphine Approved, Investigational 57-27-2 5288826
43
Histamine Approved, Investigational 75614-87-8, 51-45-6 774
44
Norepinephrine Approved 51-41-2 439260
45
Ethanol Approved 64-17-5 702
46
Epinephrine Approved, Vet_approved 51-43-4 5816
47
Salmon Calcitonin Approved, Investigational 47931-85-1 16129616
48
Racepinephrine Approved 329-65-7 838
49
Dopamine Approved Not Applicable 51-61-6, 62-31-7 681
50
Carbidopa Approved Not Applicable 28860-95-9 34359 38101

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 Diagnosis of Pheochromocytoma Recruiting NCT00004847
30 Psychosocial Aspects of Multiple Endocrine Neoplasia (MEN) Syndromes Active, not recruiting NCT00501449
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, Bone, Endothelial, Skin
Sources

Publications for Multiple Endocrine Neoplasia

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Articles related to Multiple Endocrine Neoplasia:

(show top 50) (show all 1281)
# Title Authors Year
1
Multiple Endocrine Neoplasia Type 2b (MEN2B) in a 9-Year-Old Female. ( 29709408 )
2018
2
A Case Report of Recurrent Severe Peripartum Cardiomyopathy Complicated by Factor V Leiden and Multiple Endocrine Neoplasia Type 1: A Management Conundrum. ( 29652683 )
2018
3
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
4
Endoscopic Ultrasound Features of Multiple Endocrine Neoplasia Type 1-Related versus Sporadic Pancreatic Neuroendocrine Tumors: A Single-Center Retrospective Study. ( 29698969 )
2018
5
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
6
Genotype-phenotype pancreatic neuroendocrine tumor relationship in multiple endocrine neoplasia type 1 patients: A 23-year experience at a single institution. ( 29122330 )
2018
7
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
8
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
9
Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database. ( 29497973 )
2018
10
Prostate adenocarcinoma in a young patient with multiple endocrine neoplasia 2B. ( 29530270 )
2018
11
Nonfunctional pancreatic endocrine tumor in the peripancreatic region in a Chinese patient with multiple endocrine neoplasia type 1. ( 29239255 )
2018
12
Preimplantation genetic diagnosis of multiple endocrine neoplasia type 2A using informative markers identified by targeted sequencing. ( 29378479 )
2018
13
Non-mammalian models of multiple endocrine neoplasia type 2. ( 29348307 )
2018
14
Multiple endocrine neoplasia 2 in Cyprus: evidence for a founder effect. ( 29396759 )
2018
15
Pregnancy on vandetanib in metastatic medullary thyroid carcinoma associated with multiple endocrine neoplasia type 2B. ( 29457255 )
2018
16
Pediatric Multiple Endocrine Neoplasia Type 2B: Clinicopathological Correlation of Perilimbal Mucosal Neuromas and Treatment of Secondary Open-Angle Glaucoma. ( 29765955 )
2018
17
Multiple endocrine neoplasia 2A (MEN 2A) syndrome. ( 29455549 )
2018
18
The evolving clinical, genetic and therapeutic landscape of multiple endocrine neoplasia type 2. ( 29348305 )
2018
19
Recent Topics Around Multiple Endocrine Neoplasia Type 1. ( 29897580 )
2018
20
Multiple endocrine neoplasia type 1 and breast cancer. An association to consider. ( 29910161 )
2018
21
Prophylactic thyroidectomy in children with multiple endocrine neoplasia type 2. ( 29663329 )
2018
22
The Clinical Spectrum of Multiple Endocrine Neoplasia Type 2A with Cutaneous Lichen Amyloidosis in Ethnic Han Chinese. ( 29420094 )
2018
23
Quality of life in multiple endocrine neoplasia type 2A compared with normative and disease populations. ( 29903510 )
2018
24
Re: Multiple Endocrine Neoplasia Type 1. ( 29677893 )
2018
25
Update on multiple endocrine neoplasia Type 1 and 2. ( 29909163 )
2018
26
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
27
Multiple Endocrine Neoplasia in Children and the Importance of Screening: Part 1. ( 29802047 )
2018
28
Diagnosis of multiple endocrine neoplasia type 2B and management of its ocular features. ( 29182461 )
2018
29
Prognostic value of WHO grade in pancreatic neuro-endocrine tumors in Multiple Endocrine Neoplasia type 1: Results from the DutchMEN1 Study Group. ( 28811081 )
2017
30
Clinical Features of a Family with Multiple Endocrine Neoplasia Type 2A Caused by the D631Y RET Mutation. ( 28747092 )
2017
31
Financial burden is associated with worse health-related quality of life in adults with multiple endocrine neoplasia type 1. ( 28923697 )
2017
32
Unilateral Clearance for Primary Hyperparathyroidism in Selected Patients with Multiple Endocrine Neoplasia Type 1: Reply. ( 27847968 )
2017
33
Coexistence of GH-Producing Pituitary Macroadenoma and Meningioma in a Patient with Multiple Endocrine Neoplasia Type 1 with Hyperglycemia and Ketosis as First Clinical Sign. ( 29225978 )
2017
34
Phaeochromocytoma in multiple endocrine neoplasia type 2: RET codon-specific penetrance and changes in management during the last four decades. ( 28605116 )
2017
35
Incidental Detection of Synchronous Medullary Thyroid Carcinoma with Bilateral Adrenal Pheochromocytoma on Iodine-123 Metaiodobenzylguanidine Scintigraphy, Leading to Diagnosis of Multiple Endocrine Neoplasia 2A. ( 28553188 )
2017
36
Evidence for the founder effect of RET533 as the common Greek and Brazilian ancestor spreading multiple endocrine neoplasia 2A. ( 28137737 )
2017
37
Novel Germline p.Gly42Val <i>MEN1</i> Mutation in a Family with Multiple Endocrine Neoplasia Type 1 - Excellent Response of Prolactinoma to Cabergoline. ( 29066490 )
2017
38
Preoperative Imaging Overestimates the Tumor Size in Pancreatic Neuroendocrine Neoplasms Associated with Multiple Endocrine Neoplasia Type 1. ( 29075857 )
2017
39
The LARO-MEN1 study: a longitudinal clinical experience with octreotide Long-Acting Release in patients with Multiple Endocrine Neoplasia type 1 Syndrome. ( 29263719 )
2017
40
Germline and somatic genetic changes in multicentric tumors obtained from a patient with multiple endocrine neoplasia type 1. ( 28503312 )
2017
41
[Multiple endocrine neoplasia]. ( 28902384 )
2017
42
Composite paraganglioma-ganglioneuroma concomitant with adrenal metastasis of medullary thyroid carcinoma in a patient with multiple endocrine neoplasia type 2B: A case report. ( 27704704 )
2017
43
A Case Report of Recurrent Severe Peripartum Cardiomyopathy Complicated by Factor V Leiden and Multiple Endocrine Neoplasia Type 1: A Management Conundrum. ( 29077664 )
2017
44
Distribution of RET Mutations in Multiple Endocrine Neoplasia 2 in Denmark 1994-2014: A Nationwide Study. ( 27809725 )
2017
45
Multiple endocrine neoplasia type 1 presenting with refractory seizures. ( 29092962 )
2017
46
Multiple Neuroendocrine Tumors in Stomach and Duodenum in a Multiple Endocrine Neoplasia Type 1 Patient. ( 29268593 )
2017
47
Functional analysis of RET with multiple endocrine neoplasia type 2. ( 29237911 )
2017
48
Aggressive adrenal carcinoma in a young patient with Multiple Endocrine Neoplasia 1 syndrome. ( 28625514 )
2017
49
Multiple Endocrine Neoplasia and Hyperparathyroid-Jaw Tumor Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood. ( 28674121 )
2017
50
Multiple endocrine neoplasia 2B: Differential increase in enteric nerve subgroups in muscle and mucosa. ( 28868184 )
2017
Sources

Variations for Multiple Endocrine Neoplasia

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ClinVar genetic disease variations for Multiple Endocrine Neoplasia:

6
(show top 50) (show all 310)
# Gene Variation Type Significance SNP ID Assembly Location
1 RET NM_020975.4(RET): c.2944C> T (p.Arg982Cys) single nucleotide variant risk factor rs17158558 GRCh37 Chromosome 10, 43620335: 43620335
2 RET NM_020975.4(RET): c.2944C> T (p.Arg982Cys) single nucleotide variant risk factor rs17158558 GRCh38 Chromosome 10, 43124887: 43124887
3 RET NM_020630.4(RET): c.2410G> T (p.Val804Leu) single nucleotide variant Pathogenic rs79658334 GRCh37 Chromosome 10, 43614996: 43614996
4 RET NM_020630.4(RET): c.2410G> T (p.Val804Leu) single nucleotide variant Pathogenic rs79658334 GRCh38 Chromosome 10, 43119548: 43119548
5 RET NM_020975.4(RET): c.957C> A (p.Leu319=) single nucleotide variant Conflicting interpretations of pathogenicity rs149926238 GRCh37 Chromosome 10, 43601913: 43601913
6 RET NM_020975.4(RET): c.957C> A (p.Leu319=) single nucleotide variant Conflicting interpretations of pathogenicity rs149926238 GRCh38 Chromosome 10, 43106465: 43106465
7 RET NM_020975.5(RET): c.3253A> G (p.Thr1085Ala) single nucleotide variant Uncertain significance rs756465544 GRCh37 Chromosome 10, 43623625: 43623625
8 RET NM_020975.5(RET): c.3253A> G (p.Thr1085Ala) single nucleotide variant Uncertain significance rs756465544 GRCh38 Chromosome 10, 43128177: 43128177
9 RET NM_020975.4(RET): c.1118C> T (p.Ala373Val) single nucleotide variant Benign/Likely benign rs546866208 GRCh37 Chromosome 10, 43604533: 43604533
10 RET NM_020975.4(RET): c.1118C> T (p.Ala373Val) single nucleotide variant Benign/Likely benign rs546866208 GRCh38 Chromosome 10, 43109085: 43109085
11 MEN1 NM_130799.2(MEN1): c.1535C> T (p.Ser512Leu) single nucleotide variant Uncertain significance rs141679530 GRCh38 Chromosome 11, 64804632: 64804632
12 MEN1 NM_130799.2(MEN1): c.1535C> T (p.Ser512Leu) single nucleotide variant Uncertain significance rs141679530 GRCh37 Chromosome 11, 64572104: 64572104
13 RET NM_020975.4(RET): c.334C> T (p.Arg112Cys) single nucleotide variant Uncertain significance rs762626209 GRCh38 Chromosome 10, 43100719: 43100719
14 RET NM_020975.4(RET): c.334C> T (p.Arg112Cys) single nucleotide variant Uncertain significance rs762626209 GRCh37 Chromosome 10, 43596167: 43596167
15 RET NM_020975.4(RET): c.2088G> A (p.Ser696=) single nucleotide variant Benign/Likely benign rs150329150 GRCh37 Chromosome 10, 43610136: 43610136
16 RET NM_020975.4(RET): c.2088G> A (p.Ser696=) single nucleotide variant Benign/Likely benign rs150329150 GRCh38 Chromosome 10, 43114688: 43114688
17 RET NM_020975.4(RET): c.2988G> A (p.Pro996=) single nucleotide variant Conflicting interpretations of pathogenicity rs145798106 GRCh37 Chromosome 10, 43620379: 43620379
18 RET NM_020975.4(RET): c.2988G> A (p.Pro996=) single nucleotide variant Conflicting interpretations of pathogenicity rs145798106 GRCh38 Chromosome 10, 43124931: 43124931
19 MEN1 NM_130799.2(MEN1): c.1764G> A (p.Lys588=) single nucleotide variant Conflicting interpretations of pathogenicity rs373669288 GRCh38 Chromosome 11, 64804403: 64804403
20 MEN1 NM_130799.2(MEN1): c.1764G> A (p.Lys588=) single nucleotide variant Conflicting interpretations of pathogenicity rs373669288 GRCh37 Chromosome 11, 64571875: 64571875
21 CDKN1B NM_004064.4(CDKN1B): c.-29_-26delAGAG deletion Conflicting interpretations of pathogenicity rs774454456 GRCh37 Chromosome 12, 12870745: 12870748
22 CDKN1B NM_004064.4(CDKN1B): c.-29_-26delAGAG deletion Conflicting interpretations of pathogenicity rs774454456 GRCh38 Chromosome 12, 12717811: 12717814
23 CDKN1B NM_004064.4(CDKN1B): c.397C> A (p.Pro133Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs137985549 GRCh38 Chromosome 12, 12718236: 12718236
24 CDKN1B NM_004064.4(CDKN1B): c.397C> A (p.Pro133Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs137985549 GRCh37 Chromosome 12, 12871170: 12871170
25 RET NM_020975.4(RET): c.654G> A (p.Pro218=) single nucleotide variant Benign/Likely benign rs137928436 GRCh38 Chromosome 10, 43104980: 43104980
26 RET NM_020975.4(RET): c.654G> A (p.Pro218=) single nucleotide variant Benign/Likely benign rs137928436 GRCh37 Chromosome 10, 43600428: 43600428
27 RET NM_020975.4(RET): c.2052G> A (p.Pro684=) single nucleotide variant Conflicting interpretations of pathogenicity rs145122337 GRCh37 Chromosome 10, 43610100: 43610100
28 RET NM_020975.4(RET): c.2052G> A (p.Pro684=) single nucleotide variant Conflicting interpretations of pathogenicity rs145122337 GRCh38 Chromosome 10, 43114652: 43114652
29 CDKN1B NM_004064.4(CDKN1B): c.165G> A (p.Ala55=) single nucleotide variant Benign rs16908375 GRCh38 Chromosome 12, 12718004: 12718004
30 CDKN1B NM_004064.4(CDKN1B): c.165G> A (p.Ala55=) single nucleotide variant Benign rs16908375 GRCh37 Chromosome 12, 12870938: 12870938
31 CDKN1B NM_004064.4(CDKN1B): c.426G> A (p.Thr142=) single nucleotide variant Benign/Likely benign rs149775942 GRCh37 Chromosome 12, 12871199: 12871199
32 CDKN1B NM_004064.4(CDKN1B): c.426G> A (p.Thr142=) single nucleotide variant Benign/Likely benign rs149775942 GRCh38 Chromosome 12, 12718265: 12718265
33 CDKN1B NM_004064.4(CDKN1B): c.482C> G (p.Ser161Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs373917399 GRCh37 Chromosome 12, 12871765: 12871765
34 CDKN1B NM_004064.4(CDKN1B): c.482C> G (p.Ser161Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs373917399 GRCh38 Chromosome 12, 12718831: 12718831
35 CDKN1B NM_004064.4(CDKN1B): c.326T> G (p.Val109Gly) single nucleotide variant Benign rs2066827 GRCh38 Chromosome 12, 12718165: 12718165
36 CDKN1B NM_004064.4(CDKN1B): c.326T> G (p.Val109Gly) single nucleotide variant Benign rs2066827 GRCh37 Chromosome 12, 12871099: 12871099
37 RET NM_020975.4(RET): c.-132G> T single nucleotide variant Uncertain significance rs886046985 GRCh37 Chromosome 10, 43572575: 43572575
38 RET NM_020975.4(RET): c.-132G> T single nucleotide variant Uncertain significance rs886046985 GRCh38 Chromosome 10, 43077127: 43077127
39 RET NM_020975.4(RET): c.1109T> A (p.Met370Lys) single nucleotide variant Uncertain significance rs886046987 GRCh37 Chromosome 10, 43604524: 43604524
40 RET NM_020975.4(RET): c.1109T> A (p.Met370Lys) single nucleotide variant Uncertain significance rs886046987 GRCh38 Chromosome 10, 43109076: 43109076
41 RET NM_020975.4(RET): c.1523-7C> T single nucleotide variant Likely benign rs567967877 GRCh37 Chromosome 10, 43607540: 43607540
42 RET NM_020975.4(RET): c.1523-7C> T single nucleotide variant Likely benign rs567967877 GRCh38 Chromosome 10, 43112092: 43112092
43 RET NM_020975.4(RET): c.2847A> G (p.Gly949=) single nucleotide variant Uncertain significance rs886046989 GRCh37 Chromosome 10, 43619164: 43619164
44 RET NM_020975.4(RET): c.2847A> G (p.Gly949=) single nucleotide variant Uncertain significance rs886046989 GRCh38 Chromosome 10, 43123716: 43123716
45 RET NM_020975.5(RET): c.*84G> A single nucleotide variant Uncertain significance rs558718557 GRCh37 Chromosome 10, 43623801: 43623801
46 RET NM_020975.5(RET): c.*84G> A single nucleotide variant Uncertain significance rs558718557 GRCh38 Chromosome 10, 43128353: 43128353
47 RET NM_020975.5(RET): c.*358G> T single nucleotide variant Uncertain significance rs886046991 GRCh37 Chromosome 10, 43624075: 43624075
48 RET NM_020975.5(RET): c.*358G> T single nucleotide variant Uncertain significance rs886046991 GRCh38 Chromosome 10, 43128627: 43128627
49 RET NM_020975.5(RET): c.*506G> T single nucleotide variant Uncertain significance rs886046995 GRCh38 Chromosome 10, 43128775: 43128775
50 RET NM_020975.5(RET): c.*506G> T single nucleotide variant Uncertain significance rs886046995 GRCh37 Chromosome 10, 43624223: 43624223
Sources

Expression for Multiple Endocrine Neoplasia

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

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
10.82 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
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 15)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.81 CDKN1B GDNF RET VHL
2 negative regulation of cell proliferation GO:0008285 9.67 CDKN1B MEN1 NF1 VHL
3 neural crest cell migration GO:0001755 9.55 GDNF RET
4 metanephros development GO:0001656 9.54 GDNF NF1
5 aerobic respiration GO:0009060 9.52 SDHB SDHC
6 tricarboxylic acid cycle GO:0006099 9.49 SDHB SDHC
7 peripheral nervous system development GO:0007422 9.48 GDNF NF1
8 negative regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045736 9.46 CDKN1B MEN1
9 negative regulation of osteoclast differentiation GO:0045671 9.43 CALCA NF1
10 response to pain GO:0048265 9.4 CALCA RET
11 sympathetic nervous system development GO:0048485 9.32 GDNF NF1
12 positive regulation of cAMP metabolic process GO:0030816 9.26 CALCA CHGA
13 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.16 NF1 RET
14 enteric nervous system development GO:0048484 8.96 GDNF RET
15 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 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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