MCID: MLT074
MIFTS: 55

Multiple Endocrine Neoplasia

Categories: Genetic diseases, Rare diseases, Endocrine diseases, Gastrointestinal diseases, Neuronal diseases, Cancer diseases

Aliases & Classifications for Multiple Endocrine Neoplasia

MalaCards integrated aliases for Multiple Endocrine Neoplasia:

Name: Multiple Endocrine Neoplasia 24 28 51 69
Multiple Endocrine Neoplasia Syndrome 36
Multiple Endocrine Neoplasia Type 1 69
Adenomatosis, Familial Endocrine 24
Multiple Endocrine Adenomatosis 24
Familial Endocrine Adenomatosis 24
Endocrine Neoplasia, Multiple 24
Multiple Endocrine Neoplasms 24
Mea 24
Men 24

Classifications:



External Ids:

KEGG 36 H00247
UMLS 69 C0027662

Summaries for Multiple Endocrine Neoplasia

Genetics Home Reference : 24 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 1 and type 2 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 Signaling events regulated by Ret tyrosine kinase. The drugs Vancomycin and Morphine 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 : 72 The term multiple endocrine neoplasia (MEN) encompasses several distinct syndromes featuring tumors of... more...

Related Diseases for Multiple Endocrine Neoplasia

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
Multiple Endocrine Neoplasia Type 1 and Type 2

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

(show top 50) (show all 218)
# Related Disease Score Top Affiliating Genes
1 multiple endocrine neoplasia type 1 and type 2 34.3 MEN1 RET
2 multiple endocrine neoplasia, type iv 34.2 CDKN1B MEN1 PRKAR1A
3 multiple endocrine neoplasia, type iib 34.1 CALCA GDNF MEN1 RET
4 multiple endocrine neoplasia, type i 32.8 CDKN1B CHGA MEN1 PRKAR1A RET SDHB
5 zollinger-ellison syndrome 32.7 CHGA MEN1
6 multiple endocrine neoplasia, type iia 32.6 CALCA GDNF MEN1 NF1 RET SDHB
7 vipoma 32.6 CALCA CHGA
8 thyroid carcinoma, familial medullary 31.8 CALCA CHGA GDNF MEN1 RET
9 gastrinoma 31.1 CHGA MEN1
10 neuroendocrine tumor 31.1 CALCA CHGA MEN1
11 pancreatic islet cell tumors 30.7 CALCA MEN1
12 neuroma 30.7 CALCA GDNF RET
13 islet cell tumor 30.4 CALCA CHGA MEN1
14 hypercalcemia, infantile, 1 30.4 CALCA PRKAR1A
15 parathyroid carcinoma 30.3 CALCA MEN1
16 ganglioneuroma 30.3 CHGA RET
17 hyperparathyroidism 2 with jaw tumors 30.3 MEN1 RET
18 pancreatic gastrinoma 30.3 CHGA MEN1
19 pancreatic cholera 30.2 CALCA MEN1
20 medullary sponge kidney 30.2 GDNF RET
21 tanycytic ependymoma 30.1 CHGA MEN1
22 carcinoid syndrome 30.1 CALCA CHGA MEN1
23 ectopic cushing syndrome 30.1 MEN1 RET
24 parathyroid adenoma 30.1 CALCA CHGA MEN1 RET
25 carney complex variant 30.1 CDKN1B MEN1 PRKAR1A
26 thyroid cancer, nonmedullary, 1 30.1 CALCA MEN1 PRKAR1A RET
27 somatostatinoma 30.1 CALCA CHGA
28 hyperparathyroidism 30.1 CALCA CDKN1B CHGA MEN1 PRKAR1A RET
29 primary hyperparathyroidism 29.9 CALCA CDKN1B CHGA MEN1 PRKAR1A RET
30 paragangliomas 1 29.5 SDHB SDHC
31 lipomatosis 29.2 MEN1 PRKAR1A SDHB
32 pheochromocytoma 28.9 CALCA CHGA GDNF MEN1 NF1 PNMT
33 phaeochromocytoma 28.6 CHGA NF1 RET SDHB SDHC VHL
34 gastrointestinal stromal tumor 28.4 CHGA NF1 SDHB SDHC
35 neurofibromatosis, type iv, of riccardi 28.4 MEN1 NF1 RET SDHB SDHC VHL
36 sporadic pheochromocytoma 28.2 NF1 RET SDHB SDHC VHL
37 paraganglioma 28.1 CALCA CHGA NF1 RET SDHB SDHC
38 von hippel-lindau syndrome 27.8 CHGA MEN1 NF1 PNMT RET SDHB
39 pituitary adenoma, prolactin-secreting 11.6
40 insulinoma 11.5
41 acromegaly 11.4
42 gigantism 11.4
43 adrenal carcinoma 11.4
44 acth-secreting pituitary adenoma 11.1
45 thyroiditis 10.7
46 pancreatitis 10.6
47 pancreatic somatostatinoma 10.5 CALCA MEN1
48 adenoma 10.4
49 carcinoid tumors, intestinal 10.4 CHGA MEN1
50 atypical follicular adenoma 10.4 CALCA CHGA

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



Diseases related to Multiple Endocrine Neoplasia

Symptoms & Phenotypes for Multiple Endocrine Neoplasia

UMLS symptoms related to Multiple Endocrine Neoplasia:


diarrhea

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.81 PRKAR1A RET VHL NF1 CDKN1B
2 Decreased viability GR00221-A-2 9.81 PRKAR1A RET VHL NF1
3 Decreased viability GR00221-A-3 9.81 PRKAR1A
4 Decreased viability GR00221-A-4 9.81 PRKAR1A RET NF1
5 Decreased viability GR00231-A 9.81 RET
6 Decreased viability GR00301-A 9.81 RET VHL
7 Decreased sensitivity to paclitaxel GR00112-A-0 8.96 NF1 VHL

MGI Mouse Phenotypes related to Multiple Endocrine Neoplasia:

43 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.19 CDKN1B CHGA GDNF MEN1 NF1 PNMT
2 endocrine/exocrine gland MP:0005379 10.09 CDKN1B CHGA GDNF MEN1 NF1 PRKAR1A
3 homeostasis/metabolism MP:0005376 10.07 PRKAR1A RET SDHB SDHC CDKN1B CHGA
4 mortality/aging MP:0010768 10.02 CDKN1B CHGA GDNF MEN1 NF1 PRKAR1A
5 hematopoietic system MP:0005397 10.01 CDKN1B GDNF NF1 PRKAR1A RET SDHB
6 digestive/alimentary MP:0005381 10 CDKN1B GDNF MEN1 NF1 PRKAR1A RET
7 craniofacial MP:0005382 9.88 CDKN1B MEN1 NF1 PRKAR1A VHL
8 muscle MP:0005369 9.8 CDKN1B GDNF MEN1 NF1 PRKAR1A RET
9 neoplasm MP:0002006 9.7 SDHB VHL CDKN1B MEN1 NF1 PRKAR1A
10 renal/urinary system MP:0005367 9.5 CDKN1B CHGA GDNF NF1 RET SDHB
11 reproductive system MP:0005389 9.17 PRKAR1A RET VHL CDKN1B CHGA GDNF

Drugs & Therapeutics for Multiple Endocrine Neoplasia

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

(show top 50) (show all 61)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vancomycin Approved Phase 4 1404-90-6 14969 441141
2
Morphine Approved, Investigational Phase 4 57-27-2 5288826
3
Histamine Approved, Investigational Phase 4 51-45-6, 75614-87-8 774
4
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
5
Dexlansoprazole Approved, Investigational Phase 4 138530-94-6, 103577-45-3 9578005
6 Anti-Bacterial Agents Phase 4
7 Anti-Infective Agents Phase 4
8
Histamine Phosphate Phase 4 51-74-1 65513
9 Gastrointestinal Agents Phase 4,Phase 2
10 Antacids Phase 4
11 Anti-Ulcer Agents Phase 4
12 Proton pump inhibitors Phase 4
13
Somatostatin Approved, Investigational Phase 3,Phase 2 38916-34-6, 51110-01-1 53481605
14 Hormones Phase 3,Phase 2
15 Cinacalcet Hydrochloride Phase 3
16 Hormone Antagonists Phase 3,Phase 2
17 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
18 Calcimimetic Agents Phase 3
19 Calcium, Dietary Phase 3
20
Octreotide Approved, Investigational Phase 2 83150-76-9 6400441 383414
21
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
22
Pertuzumab Approved Phase 2 380610-27-5, 145040-37-5 2540
23
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
24
Nicotinamide Approved, Investigational, Nutraceutical Phase 2 98-92-0 936
25
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
26 Antineoplastic Agents, Hormonal Phase 2
27 Micronutrients Phase 2
28 Mitogens Phase 2
29 Trace Elements Phase 2
30 Nicotinic Acids Phase 2
31 Vitamin B Complex Phase 2
32 Vitamins Phase 2
33 Endothelial Growth Factors Phase 2
34 Protein Kinase Inhibitors Phase 2
35
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
36 Folate Nutraceutical Phase 2
37 Vitamin B3 Nutraceutical Phase 2
38 Vitamin B9 Nutraceutical Phase 2
39 Rho(D) Immune Globulin Phase 1
40 gamma-Globulins Phase 1
41 Immunoglobulins Phase 1
42 Immunoglobulins, Intravenous Phase 1
43 Antibodies Phase 1
44
Ethanol Approved 64-17-5 702
45
Norepinephrine Approved 51-41-2 439260
46
Epinephrine Approved, Vet_approved 51-43-4 5816
47
Salmon Calcitonin Approved, Investigational 47931-85-1 16129616
48 Racepinephrine Approved 329-65-7
49
Dopamine Approved 51-61-6, 62-31-7 681
50
Levodopa Approved 59-92-7 6047

Interventional clinical trials:

(show all 30)

# 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 Vancomycin Associated Red Man Syndrome (RMS) Completed NCT00824122 Phase 4
3 Treatment of Zollinger-Ellison Syndrome With Prevacid Completed NCT00204373 Phase 4 Lansoprazole (Prevacid)
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 High Dose Somatostatin Analogues in Neuroendocrine Tumors Completed NCT00990535 Phase 2 Octreotide-LAR
7 Pazopanib Hydrochloride in Treating Patients With Advanced Neuroendocrine Cancer Completed NCT00454363 Phase 2 Pazopanib Hydrochloride
8 Vandetanib to Treat Children and Adolescents With Medullary Thyroid Cancer Active, not recruiting NCT00514046 Phase 1, Phase 2 Vandetanib
9 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 Active, not recruiting NCT02101918 Phase 2
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 Study of Molecular Pathways in Medullary Thyroid Carcinoma and Correlation of Molecular Data With Clinical Behavior of the MTC in Individuals Patients Completed NCT01424878
17 Genetic Evaluation of Families With Endocrine Cancers Completed NCT01794676
18 Registry for Multiple Endocrine Neoplasia Syndromes: MEN1/MEN2 Recruiting NCT03048279
19 Study and Follow-up of Multiple Endocrine Neoplasia Type 1 Recruiting NCT03348501
20 Type 1 Multiple Endocrine Neoplasia Cohort Study Recruiting NCT03262129
21 Variables That Are Correlated to Developing Multiple Endocrine Neoplasia (MEN) and Pancreatic Neuroendocrine Tumors (PNET) Recruiting NCT03053999
22 Metabolomics and Genetic Diagnosing Pancreatic Neuroendocrine Tumors in MEN1 Patients Recruiting NCT03048266
23 Studies of Inherited Diseases of Metabolism Recruiting NCT00001345
24 Natural History Study of Children and Young Adults With Medullary Thyroid Cancer Recruiting NCT01660984
25 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
26 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
27 Diagnosis of Pheochromocytoma Recruiting NCT00004847
28 Psychosocial Aspects of Multiple Endocrine Neoplasia (MEN) Syndromes Active, not recruiting NCT00501449
29 Overall and Disease Specific Survival in Patients With Confirmed MEN1 With or Without PNET (Pancreatic Neuroendocrine Tumors) Active, not recruiting NCT03043508
30 Clinical Trial of Levodopa/Carbidopa ( Sinemet) Therapy in Angel Man Syndrome Enrolling by invitation NCT03235037 Levodopa

Search NIH Clinical Center for Multiple Endocrine Neoplasia

Genetic Tests for Multiple Endocrine Neoplasia

Genetic tests related to Multiple Endocrine Neoplasia:

# Genetic test Affiliating Genes
1 Multiple Endocrine Neoplasia 28

Anatomical Context for Multiple Endocrine Neoplasia

MalaCards organs/tissues related to Multiple Endocrine Neoplasia:

38
Thyroid, Pituitary, Testes, Pancreas, Bone, Endothelial, Skin

Publications for Multiple Endocrine Neoplasia

Articles related to Multiple Endocrine Neoplasia:

(show top 50) (show all 1189)
# Title Authors Year
1
Multiple endocrine neoplasia 2 in Cyprus: evidence for a founder effect. ( 29396759 )
2018
2
Genotype-phenotype pancreatic neuroendocrine tumor relationship in multiple endocrine neoplasia type 1 patients: A 23-year experience at a single institution. ( 29122330 )
2018
3
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
4
Non-mammalian models of multiple endocrine neoplasia type 2. ( 29348307 )
2018
5
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
6
Preimplantation genetic diagnosis of multiple endocrine neoplasia type 2A using informative markers identified by targeted sequencing. ( 29378479 )
2018
7
The Clinical Spectrum of Multiple Endocrine Neoplasia Type 2A with Cutaneous Lichen Amyloidosis in Ethnic Han Chinese. ( 29420094 )
2018
8
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
9
The evolving clinical, genetic and therapeutic landscape of multiple endocrine neoplasia type 2. ( 29348305 )
2018
10
Nonfunctional pancreatic endocrine tumor in the peripancreatic region in a Chinese patient with multiple endocrine neoplasia type 1. ( 29239255 )
2018
11
Parathyroid carcinoma occurred in two glands in multiple endocrine neoplasia 1: a report on a rare case. ( 29225207 )
2017
12
Laparoscopic total pancreatectomy for multiple endocrine neoplasia type 1 syndrome-associated multifocal, non-functioning pancreatic neuroendocrine tumor: A case report. ( 28589571 )
2017
13
Multiple Neuroendocrine Tumors in Stomach and Duodenum in a Multiple Endocrine Neoplasia Type 1 Patient. ( 29268593 )
2017
14
Unilateral Clearance for Primary Hyperparathyroidism in Selected Patients with Multiple Endocrine Neoplasia Type 1: Reply. ( 27847968 )
2017
15
Advances in risk-oriented surgery for multiple endocrine neoplasia type 2. ( 28883084 )
2017
16
Transcriptional landscape of a RET<sup>C634Y</sup>-mutated iPSC and its CRISPR-corrected isogenic control reveals the putative role of EGR1 transcriptional program in the development of multiple endocrine neoplasia type 2A-associated cancers. ( 29197744 )
2017
17
Multiple endocrine neoplasia 2B: Differential increase in enteric nerve subgroups in muscle and mucosa. ( 28868184 )
2017
18
Perioperative outcomes of syndromic paraganglioma and pheochromocytoma resection in patients with von Hippel-Lindau disease, multiple endocrine neoplasia type 2, or neurofibromatosis type 1. ( 28919049 )
2017
19
Prognostic value of WHO grade in pancreatic neuro-endocrine tumors in Multiple Endocrine Neoplasia type 1: Results from the DutchMEN1 Study Group. ( 28811081 )
2017
20
A Case Report of Recurrent Severe Peripartum Cardiomyopathy Complicated by Factor V Leiden and Multiple Endocrine Neoplasia Type 1: A Management Conundrum. ( 29077664 )
2017
21
Clinical Features of a Family with Multiple Endocrine Neoplasia Type 2A Caused by the D631Y RET Mutation. ( 28747092 )
2017
22
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
23
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
24
A laparoscopic revelation: incidental nodule in a patient with bilateral phaeochromocytoma in multiple endocrine neoplasia Type 2A. ( 29242944 )
2017
25
Growth rate of small pancreatic neuroendocrine tumors in multiple endocrine neoplasia type 1: results from an endoscopic ultrasound based cohort study. ( 27975336 )
2017
26
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
27
Clinical Features and Prognosis of Thymic Neuroendocrine Tumors Associated with Multiple Endocrine Neoplasia Type 1: A Single Center Study, Systematic Review, and Meta-analysis. ( 28940393 )
2017
28
Disease and treatment factors associated with lower quality of life scores in adults with multiple endocrine neoplasia type I. ( 28919050 )
2017
29
Multiple Endocrine Neoplasia and Hyperparathyroid-Jaw Tumor Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood. ( 28674121 )
2017
30
Preimplantation genetic diagnosis for a patient with multiple endocrine neoplasia type 1: case report. ( 29266898 )
2017
31
Functional analysis of RET with multiple endocrine neoplasia type 2. ( 29237911 )
2017
32
Generation of an induced pluripotent stem cell line from a patient with hereditary multiple endocrine neoplasia 2B (MEN2B) syndrome with "highest risk" RET mutation. ( 28925363 )
2017
33
A large Chinese pedigree of multiple endocrine neoplasia type 2A with a novel C634Y/D707E germline mutation in RET exon 11. ( 28943896 )
2017
34
Novel Somatic RET Mutation Questioning the Causality of the RET I852M Germline Sequence Variant in Multiple Endocrine Neoplasia 2A. ( 28578594 )
2017
35
Addison disease and normocalcemic primary hyperparathyroidism in a dog with multiple endocrine neoplasia. ( 29296592 )
2017
36
Aggressive adrenal carcinoma in a young patient with Multiple Endocrine Neoplasia 1 syndrome. ( 28625514 )
2017
37
Germline and somatic genetic changes in multicentric tumors obtained from a patient with multiple endocrine neoplasia type 1. ( 28503312 )
2017
38
Long-term outcomes in patients with multiple endocrine neoplasia type 1 and pancreaticoduodenal neuroendocrine tumours. ( 27770475 )
2017
39
Evidence for the founder effect of RET533 as the common Greek and Brazilian ancestor spreading multiple endocrine neoplasia 2A. ( 28137737 )
2017
40
[Clinical features and mutations of RET proto-oncogene in a pedigree affected with type 2A multiple endocrine neoplasia]. ( 28186607 )
2017
41
Phaeochromocytoma in multiple endocrine neoplasia type 2: RET codon-specific penetrance and changes in management during the last four decades. ( 28605116 )
2017
42
Distribution of RET Mutations in Multiple Endocrine Neoplasia 2 in Denmark 1994-2014: A Nationwide Study. ( 27809725 )
2017
43
Challenging Differential Diagnosis of Hypergastremia and Hyperglucagonemia with Chronic Renal Failure: Report of a Case with Multiple Endocrine Neoplasia Type 1. ( 28566601 )
2017
44
Lung adenocarcinoma and adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1. ( 28070481 )
2017
45
Financial burden is associated with worse health-related quality of life in adults with multiple endocrine neoplasia type 1. ( 28923697 )
2017
46
Operative intervention for primary hyperparathyroidism offers greater bone recovery in patients with sporadic disease than in those with multiple endocrine neoplasia type 1-related hyperparathyroidism. ( 27842919 )
2017
47
Different RET gene mutation-induced multiple endocrine neoplasia type 2A in 3 Chinese families. ( 28099363 )
2017
48
Peptide Receptor Radionuclide Therapy with (177)Lu-DOTATATE for Metastatic Neuroendocrine Tumor Occurring in Association with Multiple Endocrine Neoplasia Type 1 and Cushing's Syndrome. ( 28553179 )
2017
49
Genetic diagnosis of a Chinese multiple endocrine neoplasia type 2A family through whole genome sequencing. ( 28569245 )
2017
50
A case of human ocular dirofilariasis in a patient with multiple endocrine neoplasia in Northwest Spain. ( 29223316 )
2017

Variations for Multiple Endocrine Neoplasia

ClinVar genetic disease variations for Multiple Endocrine Neoplasia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RET NM_020630.4(RET): c.2410G> T (p.Val804Leu) single nucleotide variant Pathogenic rs79658334 GRCh37 Chromosome 10, 43614996: 43614996

Expression for Multiple Endocrine Neoplasia

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

Pathways for Multiple Endocrine Neoplasia

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

# Super pathways Score Top Affiliating Genes
1 11.79 CALCA NF1 PRKAR1A RET
2 10.74 GDNF RET
3 10.48 CDKN1B NF1 RET

GO Terms for Multiple Endocrine Neoplasia

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 cell proliferation GO:0008285 9.73 CDKN1B MEN1 NF1 VHL
2 metanephros development GO:0001656 9.55 GDNF NF1
3 tricarboxylic acid cycle GO:0006099 9.54 SDHB SDHC
4 aerobic respiration GO:0009060 9.52 SDHB SDHC
5 neural crest cell migration GO:0001755 9.51 GDNF RET
6 negative regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045736 9.49 CDKN1B MEN1
7 peripheral nervous system development GO:0007422 9.48 GDNF NF1
8 negative regulation of osteoclast differentiation GO:0045671 9.46 CALCA NF1
9 response to pain GO:0048265 9.4 CALCA RET
10 sympathetic nervous system development GO:0048485 9.37 GDNF NF1
11 positive regulation of cAMP metabolic process GO:0030816 9.32 CALCA CHGA
12 positive regulation of adenylate cyclase activity GO:0045762 9.26 CALCA NF1
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

Sources for Multiple Endocrine Neoplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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