MEN1
MCID: MLT156
MIFTS: 72

Multiple Endocrine Neoplasia, Type I (MEN1)

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

Aliases & Classifications for Multiple Endocrine Neoplasia, Type I

MalaCards integrated aliases for Multiple Endocrine Neoplasia, Type I:

Name: Multiple Endocrine Neoplasia, Type I 56
Multiple Endocrine Neoplasia Type 1 12 74 24 52 58 54 43 15 71
Wermer Syndrome 56 12 24 52 58
Men1 56 24 52 58 73
Multiple Endocrine Neoplasia, Type 1 29 6
Multiple Endocrine Neoplasia 1 56 13
Familial Multiple Endocrine Neoplasia Type I 73
Neoplasia, Endocrine, Multiple, Type 1 39
Endocrine Adenomatosis, Multiple 56
Multiple Endocrine Adenomatosis 24
Endocrine Adenomatosis Multiple 52
Multiple Endocrine Neoplasia 71
Wermer's Syndrome 12
Men1 Syndrome 24
Men Type I 12
Men I 56
Mea I 56
Men 1 52

Characteristics:

Orphanet epidemiological data:

58
multiple endocrine neoplasia type 1
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: adult;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
multiple endocrine neoplasia, type i:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance The age-related penetrance for all clinical features surpasses 50% by age 20 years and 95% by age 40 years [bassett et al 1998, marx et al 1998, thakker et al 2012].

Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Rare endocrine diseases


Summaries for Multiple Endocrine Neoplasia, Type I

NIH Rare Diseases : 52 Multiple endocrine neoplasia, type 1 (MEN1) is an inherited condition that causes tumors of the endocrine system (the body's network of hormone -producing glands). People affected by MEN1 typically develop tumors of the parathyroid gland , the pituitary gland , and the pancreas, although other glands may be involved as well. These tumors are often "functional" and secrete excess hormones, which can cause a variety of health problems. The most common signs and symptoms of MEN1 are caused by hyperparathyroidism (overactive parathyroid gland) and may include kidney stones; thinning of bones; nausea and vomiting; high blood pressure (hypertension); weakness; and fatigue. MEN1 is caused by changes (mutations ) in the MEN1 gene and is inherited in an autosomal dominant manner. Management for MEN1 usually includes regular screening to allow for early diagnosis and treatment of endocrine tumors.

MalaCards based summary : Multiple Endocrine Neoplasia, Type I, also known as multiple endocrine neoplasia type 1, is related to hyperparathyroidism 1 and insulinoma, and has symptoms including diarrhea An important gene associated with Multiple Endocrine Neoplasia, Type I is MEN1 (Menin 1), and among its related pathways/superpathways are Signaling by GPCR and DAG and IP3 signaling. The drugs Ethanol and Lansoprazole have been mentioned in the context of this disorder. Affiliated tissues include pituitary, pancreas and thyroid, and related phenotypes are hypercalcemia and parathyroid hyperplasia

Disease Ontology : 12 A multiple endocrine neoplasia that has material basis in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas.

OMIM : 56 Multiple endocrine neoplasia type I (MEN1) is an autosomal dominant disorder characterized by varying combinations of tumors of parathyroids, pancreatic islets, duodenal endocrine cells, and the anterior pituitary, with 94% penetrance by age 50. Less commonly associated tumors include foregut carcinoids, lipomas, angiofibromas, thyroid adenomas, adrenocortical adenomas, angiomyolipomas, and spinal cord ependymomas. Except for gastrinomas, most of the tumors are nonmetastasizing, but many can create striking clinical effects because of the secretion of endocrine substances such as gastrin, insulin, parathyroid hormone, prolactin, growth hormone, glucagon, or adrenocorticotropic hormone (summary by Chandrasekharappa et al., 1997). Familial isolated hyperparathyroidism (see 145000) occasionally results from the incomplete expression of MEN1 (summary by Simonds et al., 2004). (131100)

UniProtKB/Swiss-Prot : 73 Familial multiple endocrine neoplasia type I: Autosomal dominant disorder characterized by tumors of the parathyroid glands, gastro-intestinal endocrine tissue, the anterior pituitary and other tissues. Cutaneous lesions and nervous-tissue tumors can exist. Prognosis in MEN1 patients is related to hormonal hypersecretion by tumors, such as hypergastrinemia causing severe peptic ulcer disease (Zollinger-Ellison syndrome, ZES), primary hyperparathyroidism, and acute forms of hyperinsulinemia.

Wikipedia : 74 Multiple endocrine neoplasia type 1 (MEN-1) is one of a group of disorders, the multiple endocrine... more...

GeneReviews: NBK1538

Related Diseases for Multiple Endocrine Neoplasia, Type I

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, Type I via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 512)
# Related Disease Score Top Affiliating Genes
1 hyperparathyroidism 1 34.0 MEN1 CDC73
2 insulinoma 33.7 SST SCT MEN1 GAST CHGA
3 multiple endocrine neoplasia, type iia 33.7 SDHD RET MEN1 CDKN1B CDC73
4 acth-secreting pituitary adenoma 33.7 SST PRL PRKAR1A MEN1
5 pituitary adenoma, prolactin-secreting 33.5 SST PRL PRKAR1A MEN1 GNAS CHGA
6 multiple endocrine neoplasia, type iib 33.4 SDHD RET MEN1
7 multiple endocrine neoplasia, type iv 33.4 RET PRKAR1A MEN1 GNAS CDKN2C CDKN1B
8 thyroid carcinoma, familial medullary 33.1 SST RET PRKAR1A MEN1 GAST CHGA
9 paraganglioma 33.1 SST SDHD RET MEN1 CHGA
10 atrophic gastritis 33.1 SST MEN1 GAST CHGA
11 gastrointestinal stromal tumor 33.0 SST SDHD MEN1 CHGA CDKN1A
12 familial isolated pituitary adenoma 32.9 MEN1 CDKN1B
13 pancreatic endocrine carcinoma 32.9 SST MEN1 GAST CHGA
14 pituitary gland disease 32.9 SST PRL PRKAR1A MEN1 GNAS
15 adrenal cortical carcinoma 32.9 PRKAR1A MEN1 CHGA
16 thyroid gland medullary carcinoma 32.9 SST RET MEN1 GAST CHGA
17 pheochromocytoma 32.9 SST SDHD RET PRL MEN1 CHGA
18 hyperparathyroidism 2 with jaw tumors 32.9 RET MEN1 CDC73 CASR
19 duodenal gastrinoma 32.9 SST SCT MEN1 GAST CHGA
20 pituitary apoplexy 32.8 SST PRL MEN1
21 carcinoid syndrome 32.8 SST SDHD MEN1 CHGA
22 familial hypocalciuric hypercalcemia 32.8 RET MEN1 CDC73 CASR
23 pituitary carcinoma 32.7 SST PRL MEN1 GNAS CHGA
24 mccune-albright syndrome 32.7 SST PRL PRKAR1A MEN1 GNAS
25 functioning pituitary adenoma 32.7 SST PRL PRKAR1A MEN1 GNAS
26 hormone producing pituitary cancer 32.6 SST PRL PRKAR1A MEN1 GNAS CDKN1B
27 multiple endocrine neoplasia 32.5 RET PRKAR1A MEN1 CDKN1B
28 neurofibromatosis, type i 32.5 SST SDHD RET MEN1
29 follicular adenoma 32.5 RET MEN1 GNAS CDKN1B
30 von hippel-lindau syndrome 32.5 SDHD RET MEN1 CHGA
31 parathyroid gland disease 32.4 RET MEN1 GAST CDC73 CASR
32 pulmonary neuroendocrine tumor 32.4 SST MEN1 CHGA
33 gastric gastrinoma 32.4 SCT MEN1 GAST CHGA
34 gastrointestinal neuroendocrine benign tumor 32.4 SST MEN1 GAST CHGA
35 non-functioning pancreatic endocrine tumor 32.4 SST MEN1 GAST CHGA
36 gastric neuroendocrine neoplasm 32.4 SST MEN1 GAST CHGA
37 small intestine neuroendocrine neoplasm 32.4 SST MEN1 CDKN1B
38 growth hormone secreting pituitary adenoma 32.4 SST PRL PRKAR1A MEN1 GNAS
39 serotonin syndrome 32.4 SST MEN1 GAST CHGA
40 duodenum cancer 32.4 SST SCT MEN1 GAST
41 duodenum disease 32.4 SST SCT MEN1 GAST
42 somatostatinoma 32.4 SST MEN1 GAST CHGA
43 skin lipoma 32.4 RET MEN1
44 small intestine benign neoplasm 32.4 SST MEN1 CHGA CDKN1B
45 pituitary infarct 32.4 SST PRL MEN1
46 gastrointestinal system benign neoplasm 32.3 SST MEN1 GAST CHGA
47 pancreatic cholera 32.3 SST SCT MEN1 GAST CHGA
48 endocrine pancreas disease 32.3 SST SCT MEN1 GAST CHGA
49 pancreatic cystadenoma 32.3 SST SCT MEN1 GAST CHGA
50 neuroblastoma 32.3 SST RET MEN1 CHGA CDKN1B CDKN1A

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



Diseases related to Multiple Endocrine Neoplasia, Type I

Symptoms & Phenotypes for Multiple Endocrine Neoplasia, Type I

Human phenotypes related to Multiple Endocrine Neoplasia, Type I:

58 31 (show top 50) (show all 95)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypercalcemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003072
2 parathyroid hyperplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008208
3 hyperparathyroidism 31 hallmark (90%) HP:0000843
4 parathyroid adenoma 31 hallmark (90%) HP:0002897
5 elevated circulating parathyroid hormone level 31 hallmark (90%) HP:0003165
6 peptic ulcer 58 31 frequent (33%) Frequent (79-30%) HP:0004398
7 growth hormone excess 58 31 frequent (33%) Occasional (29-5%) HP:0000845
8 pituitary growth hormone cell adenoma 58 31 frequent (33%) Occasional (29-5%) HP:0011760
9 pituitary prolactin cell adenoma 58 31 frequent (33%) Frequent (79-30%) HP:0006767
10 diarrhea 58 31 frequent (33%) Frequent (79-30%) HP:0002014
11 zollinger-ellison syndrome 58 31 frequent (33%) Frequent (79-30%) HP:0002044
12 pituitary null cell adenoma 58 31 frequent (33%) Very rare (<4-1%) HP:0011761
13 angiofibromas 58 31 frequent (33%) Very frequent (99-80%) HP:0010615
14 insulinoma 58 31 frequent (33%) Occasional (29-5%) HP:0012197
15 hyperinsulinemic hypoglycemia 31 frequent (33%) HP:0000825
16 subcutaneous lipoma 31 frequent (33%) HP:0001031
17 esophagitis 31 frequent (33%) HP:0100633
18 adrenocortical adenoma 31 frequent (33%) HP:0008256
19 thyroid adenoma 31 frequent (33%) HP:0000854
20 episodic abdominal pain 31 frequent (33%) HP:0002574
21 fasting hyperinsulinemia 31 frequent (33%) HP:0008283
22 pituitary corticotropic cell adenoma 58 31 occasional (7.5%) Very rare (<4-1%) HP:0008291
23 increased circulating cortisol level 58 31 occasional (7.5%) Occasional (29-5%) HP:0003118
24 carcinoid tumor 58 31 occasional (7.5%) Occasional (29-5%) HP:0100570
25 glucagonoma 58 31 occasional (7.5%) Very rare (<4-1%) HP:0030404
26 confetti-like hypopigmented macules 58 31 occasional (7.5%) Occasional (29-5%) HP:0007449
27 erythema 31 occasional (7.5%) HP:0010783
28 extrahepatic cholestasis 31 occasional (7.5%) HP:0012334
29 increased urinary cortisol level 31 occasional (7.5%) HP:0012030
30 increased glucagon level 31 occasional (7.5%) HP:0030688
31 adrenocortical carcinoma 58 31 very rare (1%) Occasional (29-5%) HP:0006744
32 thymoma 58 31 very rare (1%) Very rare (<4-1%) HP:0100522
33 pituitary adenoma 58 31 Frequent (79-30%) HP:0002893
34 gastroesophageal reflux 58 Frequent (79-30%)
35 dehydration 58 Occasional (29-5%)
36 vomiting 58 Occasional (29-5%)
37 hypoglycemia 31 HP:0001943
38 weight loss 58 Frequent (79-30%)
39 reduced bone mineral density 58 Frequent (79-30%)
40 abdominal pain 58 Frequent (79-30%)
41 osteolysis 58 Occasional (29-5%)
42 hypertension 58 Occasional (29-5%)
43 depressivity 58 Occasional (29-5%)
44 multiple lipomas 58 Frequent (79-30%)
45 anorexia 58 Occasional (29-5%)
46 nephrolithiasis 58 Occasional (29-5%)
47 constipation 58 Occasional (29-5%)
48 hypercalciuria 58 Frequent (79-30%)
49 hematemesis 58 Occasional (29-5%)
50 headache 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

56
Laboratory Abnormalities:
hypoglycemia
hypercalcemia
elevated acth
abnormal secretin test
elevated gastrin concentration
more
Endocrine Features:
parathyroid adenoma
pituitary adenoma
glucagonoma
insulinoma
pancreatic islet cell adenoma
more
Neoplasia:
carcinoid tumors

Abdomen Gastrointestinal:
diarrhea
esophagitis
zollinger-ellison syndrome
intractable peptic ulcer

Skin Nails Hair Skin:
confetti-like hypopigmented macules
subcutaneous lipomas
facial angiofibromas
collagenomas
cafe-au-lait macules
more

Clinical features from OMIM:

131100

UMLS symptoms related to Multiple Endocrine Neoplasia, Type I:


diarrhea

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

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.97 MEN1
2 Decreased viability GR00221-A-1 9.97 CDKN1B CDKN2C PRKAR1A RET SDHD
3 Decreased viability GR00221-A-2 9.97 PRKAR1A RET SDHD
4 Decreased viability GR00221-A-3 9.97 PRKAR1A
5 Decreased viability GR00221-A-4 9.97 PRKAR1A RET SDHD
6 Decreased viability GR00240-S-1 9.97 SST
7 Decreased viability GR00249-S 9.97 CDKN2C PLCB3 PYGM SDHD
8 Decreased viability GR00301-A 9.97 CDKN2C RET
9 Decreased viability GR00381-A-1 9.97 GNAS SCT SDHD
10 Decreased viability GR00386-A-1 9.97 GNAS
11 Decreased viability GR00402-S-2 9.97 RET SCT

MGI Mouse Phenotypes related to Multiple Endocrine Neoplasia, Type I:

45 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.46 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
2 behavior/neurological MP:0005386 10.44 CASR CDC73 CDKN1A CDKN1B CDKN2C GNAS
3 endocrine/exocrine gland MP:0005379 10.42 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
4 immune system MP:0005387 10.37 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
5 cellular MP:0005384 10.35 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
6 growth/size/body region MP:0005378 10.35 CASR CDC73 CDKN1A CDKN1B CDKN2C CHGA
7 mortality/aging MP:0010768 10.34 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
8 cardiovascular system MP:0005385 10.32 CDC73 CDKN1A CDKN1B CDKN2C CHGA GNAS
9 hematopoietic system MP:0005397 10.3 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
10 embryo MP:0005380 10.26 CASR CDC73 CDKN1A CDKN1B JUND MEN1
11 digestive/alimentary MP:0005381 10.22 CASR CDC73 CDKN1A CDKN1B GAST MEN1
12 integument MP:0010771 10.18 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
13 neoplasm MP:0002006 10.15 CDC73 CDKN1A CDKN1B CDKN2B CDKN2C GAST
14 muscle MP:0005369 10.14 CASR CDC73 CDKN1A CDKN1B CHGA GNAS
15 liver/biliary system MP:0005370 10.06 CDC73 CDKN1A CDKN1B GNAS JUND MEN1
16 nervous system MP:0003631 10.06 CDC73 CDKN1A CDKN1B CDKN2C CHGA GNAS
17 renal/urinary system MP:0005367 9.85 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
18 no phenotypic analysis MP:0003012 9.8 CDKN1A CDKN1B CDKN2B CHGA GNAS RET
19 reproductive system MP:0005389 9.7 CDC73 CDKN1A CDKN1B CDKN2B CDKN2C CHGA
20 respiratory system MP:0005388 9.23 CDC73 CDKN1A CDKN1B CDKN2C GNAS JUND

Drugs & Therapeutics for Multiple Endocrine Neoplasia, Type I

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

(show top 50) (show all 127)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 4 64-17-5 702
2
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
3
Dexlansoprazole Approved, Investigational Phase 4 103577-45-3, 138530-94-6 9578005
4
Doxazosin Approved Phase 4 74191-85-8 3157
5
Phenoxybenzamine Approved Phase 4 59-96-1 4768
6
Naltrexone Approved, Investigational, Vet_approved Phase 4 16590-41-3 5360515
7
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
8
Cinacalcet Approved Phase 4 226256-56-0 156419
9
Sodium citrate Approved, Investigational Phase 4 68-04-2
10
Teriparatide Approved, Investigational Phase 4 52232-67-4 16133850
11
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
12
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
13
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
14 Gastrointestinal Agents Phase 4
15 Antacids Phase 4
16 Anti-Ulcer Agents Phase 4
17 Proton Pump Inhibitors Phase 4
18 Adrenergic Agents Phase 4
19 Adrenergic Antagonists Phase 4
20 Adrenergic alpha-Antagonists Phase 4
21 Antihypertensive Agents Phase 4
22 Vasodilator Agents Phase 4
23 Adrenergic alpha-1 Receptor Antagonists Phase 4
24 Narcotics Phase 4
25 Narcotic Antagonists Phase 4
26 Hormones Phase 4
27 Hormone Antagonists Phase 4
28 Calcium, Dietary Phase 4
29 Vitamins Phase 4
30 Calciferol Phase 4
31 Nutrients Phase 4
32 Trace Elements Phase 4
33 Micronutrients Phase 4
34 Citrate Phase 4
35 Chelating Agents Phase 4
36 Anticoagulants Phase 4
37
Calcium Nutraceutical Phase 4 7440-70-2 271
38
Liraglutide Approved Phase 3 204656-20-2 44147092
39
Glucagon Approved Phase 3 16941-32-5
40
Somatostatin Approved, Investigational Phase 3 38916-34-6, 51110-01-1 53481605
41 Antimetabolites Phase 3
42 Hypoglycemic Agents Phase 3
43 Incretins Phase 3
44 Insulin, Globin Zinc Phase 3
45 Glucagon-Like Peptide 1 Phase 3
46 insulin Phase 3
47 Hypolipidemic Agents Phase 3
48 Cholestyramine Resin Phase 3
49 Anticholesteremic Agents Phase 3
50 Lipid Regulating Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 73)
# Name Status NCT ID Phase Drugs
1 Long-Term Study of the Efficacy and Safety of Lansoprazole in the Treatment of Zollinger-Ellison and Other Acid Hypersecretors Completed NCT00204373 Phase 4 Lansoprazole (Prevacid)
2 Pheochromocytoma Randomised Study Comparing Adrenoreceptor Inhibiting Agents for Preoperative Treatment Completed NCT01379898 Phase 4 Phenoxybenzamine;Doxazosin
3 Randomized, Open-label Clinical Trial of Extended-Release vs. Oral Naltrexone for Alcohol Treatment in Primary Care. Completed NCT01893827 Phase 4 XR-NTX (Extended-Release Naltrexone);Oral Naltrexone (O-NTX)
4 Novel Combination Therapy for Osteoporosis in Men Recruiting NCT03994172 Phase 4 Teriparatide or human parathyroid hormone (PTH) 1-34;Cinacalcet;placebo tablet
5 Cinacalcet Actions in Familial Primary Hyperparathyroidism Completed NCT00325104 Phase 3
6 Liraglutide in the Treatment of Type 1 Diabetes Mellitus Completed NCT01722266 Phase 3 Liraglutide;Placebo
7 Lipid Research Clinics Coronary Primary Prevention Trial (CPPT) Completed NCT00000488 Phase 3 cholestyramine
8 Non-functioning Pancreatic Neuroendocrine Tumors (NF-pNETs) in Multiple Endocrine Neoplasia Type 1 (MEN1) Treated With Somatostatin Analogs (SA) Versus NO Treatment - a Prospective, Randomized, Controlled Multicenter Study Not yet recruiting NCT02705651 Phase 3 Somatostatin-Analog
9 A Randomized Phase II Study for Tertiary Prevention of Squamocellular Cancer of Head and Neck (SCCHN) With a Dietary Intervention Unknown status NCT02869399 Phase 2
10 Perfusion CT as Predictive Biomarker in a Phase II Study of Ziv-Aflibercept in Patients With Advanced Pancreatic Neuroendocrine Tumors Completed NCT02101918 Phase 2
11 Evaluation of (68)Gallium- DOTATATE PET/CT for Detecting Primary and Metastatic Neuroendocrine Tumors Completed NCT01967537 Phase 2 68Gallium DOTATATE
12 A Phase 2 Study of GW786034 (Pazopanib) in Advanced Low-Grade or Intermediate-Grade Neuroendocrine Carcinoma Completed NCT00454363 Phase 2 Pazopanib Hydrochloride
13 A Phase II Trial of Mutation-Targeted Therapy With Sunitinib or Everolimus in Patients With Advanced Low-or Intermediate Grade Neuroendocrine Tumors of the Gastrointestinal Tract and Pancreas With or Without Cytoreductive Surgery Completed NCT02315625 Phase 2 Sunitinib;Everolimus
14 A Phase II Study of LEE011 (Ribociclib) in Patients With Advanced Neuroendocrine Tumors of Foregut Origin Completed NCT02420691 Phase 2 Ribociclib
15 A Phase II, Open-Label Study To Assess The Efficacy and Tolerability of ZD6474 (ZACTIMA™ ) 100 mg Monotherapy In Subjects With Locally Advanced or Metastatic Hereditary Medullary Thyroid Cancer Completed NCT00358956 Phase 2 ZD6474 (vandetanib)
16 Efficacy and Safety of High Dose Regimen of Octreotide LAR in Patients With Neuroendocrine Tumors in Progressive Disease: A Phase II, Open, Multicentric Prospective Study Completed NCT00990535 Phase 2 Octreotide-LAR
17 A Phase 2, Multi-Center, Open Label Study Evaluating the Efficacy and Safety of Quarfloxin in Patients With Low to Intermediate Grade Neuroendocrine Carcinoma Completed NCT00780663 Phase 2 Quarfloxin
18 Phase II Study of Capecitabine and Temozolomide for Progressive, Differentiated, Metastatic Neuroendocrine Cancers Completed NCT00869050 Phase 2 Capecitabine;Temozolomide
19 A Phase II Study of Lenvatinib in Combination With Everolimus in Patients With Advanced Carcinoid Tumors Recruiting NCT03950609 Phase 2 Everolimus;Lenvatinib
20 Evaluation of the Natural History and Management of Von Hippel-Lindau (VHL) Associated Pancreatic Neuroendocrine Tumors Recruiting NCT04074135 Phase 2 68-Gallium DOTATATE
21 The Perioperative Use of Dexmedetomidine and Magnesium Sulfate Compared With Traditional Anesthetic Technique for Open Resection of Pheochromocytoma. Recruiting NCT04320589 Phase 2 Dexmedetomidine;General anesthetic
22 A Randomized, Placebo-Controlled Study of Liraglutide 3mg Daily (Saxenda®) in Obese or Overweight Patients With Stable Bipolar Disorder Recruiting NCT03158805 Phase 2 LIRAGLUTIDE
23 Phase II Study of Sorafenib (BAY 43-9006) in Patients With Metastatic Medullary Thyroid Carcinoma Active, not recruiting NCT00390325 Phase 2 Sorafenib;Sorafenib Tosylate
24 Phase I/II Trial of Vandetanib (ZD6474, ZACTIMA) in Children and Adolescents With Hereditary Medullary Thyroid Carcinoma Active, not recruiting NCT00514046 Phase 1, Phase 2 Vandetanib
25 A Phase II Study of Pertuzumab and Erlotinib for Metastatic or Unresectable Neuroendocrine Tumors Terminated NCT00947167 Phase 2 pertuzumab;erlotinib
26 The Efficacy of High-Dose Intravenous Immunoglobulin Therapy in Patients With Stiff-Man Syndrome: A Double-Blind, Placebo-Controlled Trial Completed NCT00001550 Phase 1 IVIg
27 Phase I Trial With a Combination of Docetaxel +153 Sm-EDTMP (Samarium 153) in Patients With Hormone-Refractory Prostate Cancer Completed NCT00559429 Phase 1 Docetaxel;Docetaxel;Docetaxel;Docetaxel
28 The Use of Fluorodopa F 18 Positron Emission Tomography Combined With Computed Tomography in Congenital Hyperinsulinism and Insulinoma Recruiting NCT02021604 Phase 1 Fluorodopa F 18
29 A Phase 1 Study of Veliparib (ABT-888) in Combination With Capecitabine and Temozolomide in Advanced Well-Differentiated Neuroendocrine Tumors Withdrawn NCT02831179 Phase 1 Capecitabine;Temozolomide;Veliparib
30 Investigation of Prevalence and Clinical Effects of Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene Mutations With DNA Sequence Analysis in Acromegaly Patients in Turkey Unknown status NCT01902420
31 A Pilot Study to Investigate Germ-Line MEN1 and SDHD Gene Mutation in Familial Cases of Carcinoid Cancer Unknown status NCT00672269
32 An Investigation of Eight Reported Cases of Small Intestinal Carcinoid Carcinoma in Multiple Family Members Unknown status NCT00662168
33 Transcriptional and Translational Regulation of Vitamin D Receptor (VDR) and Calcium Sensing Receptor (CaSR) in Patients With Sporadic Primary Hyperparathyroidism Unknown status NCT01228786
34 Intra-operative Neuromodulation of the Pelvic Plexus Unknown status NCT03425240
35 A Pilot Study of Genetic Evaluation of Families With Endocrine Cancers Completed NCT01794676
36 Study of Molecular Pathways in Medullary Thyroid Carcinoma (MTC) and Correlation of Molecular Data With Clinical Behavior of the MTC in Individuals Patients Completed NCT01424878
37 Evaluation of the Gastrinoma in Patients With Zollinger-Ellison Syndrome Completed NCT00001254
38 Genetic Polymorphisms Associated With Histamine Disposition in Children With Vancomycin Associated Red Man Syndrome (RMS) Completed NCT00824122
39 Assessing Quality of Life Tools in Medullary Thyroid Cancer Patients Completed NCT02465424
40 Intra-operative Assessment of Cavernosal Nerve Stimulus Threshold Completed NCT03150758
41 Reversal of Atrial Substrate to Prevent Atrial Fibrillation - A Pilot Study Completed NCT03186976
42 The Impact of Fish-oil Fatty Acids on Postprandial Vascular Reactivity Completed NCT01692431
43 Longitudinal Measurement of Cortisol in Association With Mental Health and Experience of Domestic Violence and Abuse Completed NCT01632553
44 Enhancing Women's Health Through Assessing Foot Plasticity With Pregnancy Completed NCT01868074
45 Using CBPR to Reduce HIV Risk Among Immigrant Latino MSM Completed NCT03276338
46 Study and Follow-up of Multiple Endocrine Neoplasia Type 1 Recruiting NCT03348501
47 Family Studies in Metabolic Diseases and Mineral Metabolism Recruiting NCT00001345
48 Metabolomics and Genetic Diagnosing Pancreatic Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1 Patients Recruiting NCT03048266
49 Studies of Hyperparathyroidism and Related Disorders Recruiting NCT00001277 68Ga-Dotatate;18F-DOPA
50 Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Multiple Endocrine Neoplasia, Type I

Cochrane evidence based reviews: multiple endocrine neoplasia type 1

Genetic Tests for Multiple Endocrine Neoplasia, Type I

Genetic tests related to Multiple Endocrine Neoplasia, Type I:

# Genetic test Affiliating Genes
1 Multiple Endocrine Neoplasia, Type 1 29 MEN1

Anatomical Context for Multiple Endocrine Neoplasia, Type I

MalaCards organs/tissues related to Multiple Endocrine Neoplasia, Type I:

40
Pituitary, Pancreas, Thyroid, Pancreatic Islet, Bone, Testes, Kidney

Publications for Multiple Endocrine Neoplasia, Type I

Articles related to Multiple Endocrine Neoplasia, Type I:

(show top 50) (show all 2269)
# Title Authors PMID Year
1
Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein. 24 56 6 61
12112656 2002
2
Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1. 61 24 6 56
12050235 2002
3
Molecular and genetic mechanisms of tumorigenesis in multiple endocrine neoplasia type-1. 24 6 56 61
11579199 2001
4
Characterization of mutations in patients with multiple endocrine neoplasia type 1. 24 56 6 61
9463336 1998
5
Guidelines for diagnosis and therapy of MEN type 1 and type 2. 24 56 6
11739416 2001
6
Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism. 6 54 56 61
9709921 1998
7
Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states. 56 6 61 54
9215689 1997
8
Effect of multiple endocrine neoplasia type 1 (MEN1) gene mutations on premature mortality in familial MEN1 syndrome with founder mutations. 56 6 61
15240620 2004
9
A novel six-nucleotide insertion in exon 4 of the MEN1 gene, 878insCTGCAG, in three patients with familial insulinoma and primary hyperparathyroidism. 61 56 6
12417605 2002
10
Common ancestral mutation in the MEN1 gene is likely responsible for the prolactinoma variant of MEN1 (MEN1Burin) in four kindreds from Newfoundland. 6 56 61
9554741 1998
11
Positional cloning of the gene for multiple endocrine neoplasia-type 1. 61 56 6
9103196 1997
12
Variant multiple endocrine neoplasia I (MEN IBurin): further studies and non-linkage to HLA. 61 6 56
2857681 1985
13
Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). 61 6 24
22723327 2012
14
Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene. 61 24 56
17879353 2008
15
Detection of an MEN1 gene mutation depends on clinical features and supports current referral criteria for diagnostic molecular genetic testing. 61 6 24
15670192 2005
16
Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory. 61 24 6
15714081 2005
17
Multiple endocrine neoplasia type 1 variant with frequent prolactinoma and rare gastrinoma. 56 24 61
15292304 2004
18
Genotype-phenotype analysis in multiple endocrine neoplasia type 1. 61 24 6
12049533 2002
19
Pituitary macroadenoma in a 5-year-old: an early expression of multiple endocrine neoplasia type 1. 61 24 6
11134142 2000
20
Novel V184E MEN1 germline mutation in a Japanese kindred with familial hyperparathyroidism. 56 6
9843042 1998
21
Somatic mutation of the MEN1 gene in parathyroid tumours. 61 24 56
9241276 1997
22
Multiple facial angiofibromas and collagenomas in patients with multiple endocrine neoplasia type 1. 56 24 61
9236523 1997
23
Prolactinomas in familial multiple endocrine neoplasia syndrome type I. Relationship to HLA and carcinoid tumors. 56 6
6108714 1980
24
Cutaneous tumors in patients with multiple endocrine neoplasm type 1 (MEN1) and gastrinomas: prospective study of frequency and development of criteria with high sensitivity and specificity for MEN1. 56 24
15531478 2004
25
Hypermutability in a Drosophila model for multiple endocrine neoplasia type 1. 54 61 56
15333582 2004
26
Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. 56 24
14985373 2004
27
Unusual presentation of multiple endocrine neoplasia type 1 in a young woman with a novel mutation of the MEN1 gene. 6 54 61
15205994 2004
28
Pituitary disease in MEN type 1 (MEN1): data from the France-Belgium MEN1 multicenter study. 56 24
11836268 2002
29
Menin, the product of the MEN1 gene, is a nuclear protein. 56 61 54
9465067 1998
30
A transcript map for the 2.8-Mb region containing the multiple endocrine neoplasia type 1 locus. 54 61 56
9253601 1997
31
Impaired transforming growth factor-β (TGF-β) transcriptional activity and cell proliferation control of a menin in-frame deletion mutant associated with multiple endocrine neoplasia type 1 (MEN1). 61 6
22275377 2012
32
Mutation analysis in a Chinese family with multiple endocrine neoplasia type 1. 61 6
20367983 2010
33
Parathyroid carcinoma in multiple endocrine neoplasia type 1 with a classic germline mutation. 61 54 24
19491073 2009
34
Familial pituitary adenomas. 24 54 61
19522822 2009
35
Gonadotroph adenoma in multiple endocrine neoplasia type 1. 24 54 61
18753103 2008
36
Multiple endocrine neoplasia type 1 (MEN1): loss of one MEN1 allele in tumors and monohormonal endocrine cell clusters but not in islet hyperplasia of the pancreas. 56 61
17179192 2007
37
A whole MEN1 gene deletion flanked by Alu repeats in a family with multiple endocrine neoplasia type 1. 54 24 61
17000701 2006
38
Thymic carcinoid in multiple endocrine neoplasia 1: genotype-phenotype correlation and prevention. 24 54 61
16594911 2006
39
Multiple Endocrine Neoplasia Type 1 61 6
20301710 2005
40
Coincidence of multiple endocrine neoplasia types 1 and 2: mutations in the RET protooncogene and MEN1 tumor suppressor gene in a family presenting with recurrent primary hyperparathyroidism. 54 6
15870131 2005
41
Homozygous loss of menin is well tolerated in liver, a tissue not affected in MEN1. 56 61
15672591 2004
42
Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome. 61 56
14715834 2004
43
Germline mutations of the MEN1 gene in Korean families with multiple endocrine neoplasia type 1 (MEN1) or MEN1-related disorders. 56 61
12791038 2003
44
Efficient mutation detection in MEN1 gene using a combination of single-strand conformation polymorphism (MDGA) and heteroduplex analysis. 61 6
12652570 2003
45
Familial isolated primary hyperparathyroidism--a multiple endocrine neoplasia type 1 variant? 61 24 54
11454510 2001
46
The antral mucosa as a new site for endocrine tumors in multiple endocrine neoplasia type 1 and Zollinger-Ellison syndromes. 61 56
11344233 2001
47
Multiple endocrine neoplasia type 1: new clinical and basic findings. 56 61
11295574 2001
48
Multiple allelic deletions and intratumoral genetic heterogeneity in men1 pancreatic tumors. 61 56
11238532 2001
49
A mouse model of multiple endocrine neoplasia, type 1, develops multiple endocrine tumors. 56 61
11158604 2001
50
Rare somatic inactivation of the multiple endocrine neoplasia type 1 gene in secondary hyperparathyroidism of uremia. 56 61
11095441 2000

Variations for Multiple Endocrine Neoplasia, Type I

ClinVar genetic disease variations for Multiple Endocrine Neoplasia, Type I:

6 (show top 50) (show all 739) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MEN1 NC_000011.10:g.(?_64803514)_(64810132_?)deldeletion Pathogenic 417316 11:64570986-64577604 11:64803514-64810132
2 MEN1 NC_000011.10:g.(?_64803514)_(64804816_?)deldeletion Pathogenic 417317 11:64570986-64572288 11:64803514-64804816
3 MEN1 NM_000244.3(MEN1):c.1258C>T (p.Arg420Ter)SNV Pathogenic 403802 rs1060499974 11:64572613-64572613 11:64805141-64805141
4 MEN1 NM_000244.3(MEN1):c.984C>A (p.Tyr328Ter)SNV Pathogenic 403838 rs750904332 11:64573784-64573784 11:64806312-64806312
5 MEN1 NM_000244.3(MEN1):c.839+1G>TSNV Pathogenic 403810 rs1060499976 11:64574650-64574650 11:64807178-64807178
6 MEN1 NM_000244.3(MEN1):c.1397_1419dup (p.Glu474fs)duplication Pathogenic 403843 rs1555163780 11:64572234-64572235 11:64804762-64804763
7 MEN1 NM_000244.3(MEN1):c.191_195AGCCC[3] (p.Asp70fs)short repeat Pathogenic 403814 rs1555166609 11:64577381-64577382 11:64809909-64809910
8 MEN1 NM_000244.3(MEN1):c.1189G>T (p.Glu397Ter)SNV Pathogenic 403811 rs772588551 11:64573118-64573118 11:64805646-64805646
9 MEN1 NM_000244.3(MEN1):c.252_253insTT (p.Ile85fs)insertion Pathogenic 403822 rs386134253 11:64577329-64577330 11:64809857-64809858
10 MEN1 NM_000244.3(MEN1):c.280_284dup (p.Gln96fs)duplication Pathogenic 403815 rs1555166494 11:64577297-64577298 11:64809825-64809826
11 MEN1 NM_000244.3(MEN1):c.346G>T (p.Glu116Ter)SNV Pathogenic 403842 rs1060499992 11:64577236-64577236 11:64809764-64809764
12 MEN1 NM_000244.3(MEN1):c.1427G>A (p.Trp476Ter)SNV Pathogenic 403839 rs1060499991 11:64572227-64572227 11:64804755-64804755
13 MEN1 NM_000244.3(MEN1):c.318T>A (p.Tyr106Ter)SNV Pathogenic 403833 rs1060499987 11:64577264-64577264 11:64809792-64809792
14 MEN1 NM_000244.3(MEN1):c.843C>A (p.Tyr281Ter)SNV Pathogenic 418292 rs1060503789 11:64574567-64574567 11:64807095-64807095
15 MEN1 NM_000244.3(MEN1):c.1421_1428dup (p.Gly477fs)duplication Pathogenic 428080 rs1114167536 11:64572225-64572226 11:64804753-64804754
16 MEN1 NM_000244.3(MEN1):c.1397_1404dup (p.Ala469fs)duplication Pathogenic 428075 rs1114167531 11:64572249-64572250 11:64804777-64804778
17 MEN1 NM_000244.3(MEN1):c.1239_1240insGTCC (p.Cys414fs)insertion Pathogenic 428066 rs1114167524 11:64572631-64572632 11:64805159-64805160
18 MEN1 NM_000244.3(MEN1):c.1037G>A (p.Trp346Ter)SNV Pathogenic 428018 rs1114167482 11:64573731-64573731 11:64806259-64806259
19 MEN1 NM_000244.3(MEN1):c.798+1G>ASNV Pathogenic 428081 rs794728652 11:64575023-64575023 11:64807551-64807551
20 MEN1 NM_000244.3(MEN1):c.461-2A>GSNV Pathogenic 428001 rs886042035 11:64575573-64575573 11:64808101-64808101
21 MEN1 NM_000244.3(MEN1):c.237del (p.Val80fs)deletion Pathogenic 428022 rs1114167486 11:64577345-64577345 11:64809873-64809873
22 MEN1 NM_000244.3(MEN1):c.1A>T (p.Met1Leu)SNV Pathogenic 428034 rs386134250 11:64577581-64577581 11:64810109-64810109
23 MEN1 NM_000244.3(MEN1):c.984C>G (p.Tyr328Ter)SNV Pathogenic 449058 rs750904332 11:64573784-64573784 11:64806312-64806312
24 MEN1 NM_000244.3(MEN1):c.955_1065-227deldeletion Pathogenic 457345 rs1555164870 11:64573469-64573813 11:64805997-64806341
25 MEN1 NM_000244.3(MEN1):c.696C>A (p.Tyr232Ter)SNV Pathogenic 457331 rs778921501 11:64575126-64575126 11:64807654-64807654
26 MEN1 NM_000244.3(MEN1):c.578_579del (p.Pro193fs)deletion Pathogenic 457327 rs1555165756 11:64575453-64575454 11:64807981-64807982
27 MEN1 NM_000244.3(MEN1):c.754_760del (p.Ile252fs)deletion Pathogenic 457337 rs1555165503 11:64575062-64575068 11:64807590-64807596
28 MEN1 NM_000244.3(MEN1):c.1550C>G (p.Ser517Ter)SNV Pathogenic 457305 rs141679530 11:64572104-64572104 11:64804632-64804632
29 MEN1 NM_000244.3(MEN1):c.1390_1397del (p.Ser464fs)deletion Pathogenic 457290 rs1555163883 11:64572257-64572264 11:64804785-64804792
30 MEN1 NM_000244.3(MEN1):c.317_318del (p.Tyr106fs)deletion Pathogenic 457321 rs1555166466 11:64577264-64577265 11:64809792-64809793
31 MEN1 NC_000011.10:g.(?_64809659)_(64810115_?)deldeletion Pathogenic 527321 11:64577131-64577587 11:64809659-64810115
32 MEN1 NM_000244.3(MEN1):c.1208dup (p.Ser404fs)duplication Pathogenic 527241 rs1555164430 11:64572662-64572663 11:64805190-64805191
33 MEN1 NM_000244.3(MEN1):c.231C>G (p.Tyr77Ter)SNV Pathogenic 527270 rs1555166567 11:64577351-64577351 11:64809879-64809879
34 MEN1 NM_000244.3(MEN1):c.1064+1G>ASNV Pathogenic 527268 rs1114167489 11:64573703-64573703 11:64806231-64806231
35 MEN1 NM_000244.3(MEN1):c.1488del (p.Glu496fs)deletion Pathogenic 527285 rs1555163646 11:64572166-64572166 11:64804694-64804694
36 MEN1 NM_000244.3(MEN1):c.142del (p.Leu48fs)deletion Pathogenic 527271 rs1555166681 11:64577440-64577440 11:64809968-64809968
37 MEN1 NM_000244.3(MEN1):c.838del (p.Arg280fs)deletion Pathogenic 527280 rs1555165360 11:64574652-64574652 11:64807180-64807180
38 MEN1 NM_000244.3(MEN1):c.378G>A (p.Trp126Ter)SNV Pathogenic 527240 rs1555166365 11:64577204-64577204 11:64809732-64809732
39 MEN1 NM_000244.3(MEN1):c.1118C>A (p.Ala373Asp)SNV Pathogenic 547518 rs1555164707 11:64573189-64573189 11:64805717-64805717
40 MEN1 NM_000244.3(MEN1):c.1366-2_*132deldeletion Pathogenic 580649 rs1565634591 11:64571674-64572290 11:64804202-64804818
41 MEN1 NM_000244.3(MEN1):c.1349del (p.Gly450fs)deletion Pathogenic 581965 rs1565640081 11:64572522-64572522 11:64805050-64805050
42 MEN1 NM_000244.3(MEN1):c.640C>T (p.Gln214Ter)SNV Pathogenic 571001 rs1565647767 11:64575392-64575392 11:64807920-64807920
43 MEN1 NM_000244.3(MEN1):c.1689dup (p.Lys564fs)duplication Pathogenic 569154 rs1565635941 11:64571964-64571965 11:64804492-64804493
44 MEN1 NM_000244.3(MEN1):c.1065-2A>TSNV Pathogenic 576171 rs1565642765 11:64573244-64573244 11:64805772-64805772
45 MEN1 NM_000244.3(MEN1):c.386del (p.Leu129fs)deletion Pathogenic 583070 rs1565651223 11:64577196-64577196 11:64809724-64809724
46 MEN1 NM_000244.3(MEN1):c.322_323insT (p.Arg108fs)insertion Pathogenic 567215 rs1565651568 11:64577259-64577260 11:64809787-64809788
47 MEN1 NM_000244.3(MEN1):c.1366_*820del (p.Val456fs)deletion Pathogenic 572762 11:64570986-64572288 11:64803514-64804816
48 MEN1 NM_000244.3(MEN1):c.674G>A (p.Trp225Ter)SNV Pathogenic 574621 rs1565647197 11:64575148-64575148 11:64807676-64807676
49 MEN1 NM_000244.3(MEN1):c.493G>C (p.Ala165Pro)SNV Pathogenic 579050 rs1565648656 11:64575539-64575539 11:64808067-64808067
50 MEN1 NM_001370259.2(MEN1):c.734del (p.Pro245fs)deletion Pathogenic 623186 rs1565646772 11:64575073-64575073 11:64807601-64807601

UniProtKB/Swiss-Prot genetic disease variations for Multiple Endocrine Neoplasia, Type I:

73 (show top 50) (show all 90)
# Symbol AA change Variation ID SNP ID
1 MEN1 p.Pro12Leu VAR_005425 rs794728614
2 MEN1 p.Leu22Arg VAR_005426 rs104894256
3 MEN1 p.Glu26Lys VAR_005427 rs28931612
4 MEN1 p.Leu39Trp VAR_005428
5 MEN1 p.Gly42Asp VAR_005429
6 MEN1 p.Glu45Gly VAR_005430
7 MEN1 p.His139Asp VAR_005432 rs104894263
8 MEN1 p.His139Tyr VAR_005433
9 MEN1 p.Lys135Ile VAR_005434
10 MEN1 p.Phe144Val VAR_005436 rs111416754
11 MEN1 p.Ala165Pro VAR_005437
12 MEN1 p.Ala169Asp VAR_005438
13 MEN1 p.Asp177Tyr VAR_005441 rs111416749
14 MEN1 p.Ala181Pro VAR_005442 rs376872829
15 MEN1 p.Glu184Asp VAR_005443 rs155516581
16 MEN1 p.Trp188Ser VAR_005444
17 MEN1 p.Leu228Pro VAR_005446 rs886039415
18 MEN1 p.Ala247Val VAR_005447
19 MEN1 p.Leu269Pro VAR_005449
20 MEN1 p.Ala289Glu VAR_005451
21 MEN1 p.Leu291Pro VAR_005452
22 MEN1 p.Ala314Pro VAR_005453
23 MEN1 p.Arg319Pro VAR_005454
24 MEN1 p.Ala342Asp VAR_005455 rs2071312
25 MEN1 p.Trp346Arg VAR_005456
26 MEN1 p.Thr349Arg VAR_005457
27 MEN1 p.Glu364Lys VAR_005458 rs387906552
28 MEN1 p.Ala373Asp VAR_005460 rs155516470
29 MEN1 p.Asp423Asn VAR_005461 rs104894264
30 MEN1 p.Trp441Arg VAR_005464 rs104894259
31 MEN1 p.Phe452Ser VAR_005465
32 MEN1 p.Ser560Asn VAR_005467 rs863224527
33 MEN1 p.Gly161Asp VAR_008017 rs794728648
34 MEN1 p.Cys246Arg VAR_008018
35 MEN1 p.Glu45Lys VAR_039587 rs111416749
36 MEN1 p.Arg98Leu VAR_039588
37 MEN1 p.Gly110Glu VAR_039589 rs138939829
38 MEN1 p.His139Pro VAR_039590
39 MEN1 p.His139Arg VAR_039591 rs111416751
40 MEN1 p.Asp158Val VAR_039592
41 MEN1 p.Ser159Ile VAR_039593
42 MEN1 p.Ser160Phe VAR_039594
43 MEN1 p.Ala165Thr VAR_039595
44 MEN1 p.Val167Phe VAR_039596
45 MEN1 p.Cys170Arg VAR_039597
46 MEN1 p.Leu173Pro VAR_039598 rs386134256
47 MEN1 p.Glu184Lys VAR_039599 rs106479316
48 MEN1 p.Glu184Gln VAR_039600
49 MEN1 p.His186Arg VAR_039601
50 MEN1 p.Trp188Arg VAR_039602 rs794728649

Copy number variations for Multiple Endocrine Neoplasia, Type I from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 57470 11 63400000 77100000 Copy number MEN1 Multiple endocrine neoplasia type 1

Expression for Multiple Endocrine Neoplasia, Type I

Search GEO for disease gene expression data for Multiple Endocrine Neoplasia, Type I.

Pathways for Multiple Endocrine Neoplasia, Type I

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

(show all 23)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.02 SST SCT RET PRKAR1A PLCB3 MEN1
2
Show member pathways
12.71 PYGM PRKAR1A PLCB3 GNAS CDKN2B CDKN1B
3 12.57 RET PLCB3 GNAS CDKN2B CDKN1B CDKN1A
4
Show member pathways
12.53 GNAS CDKN2C CDKN2B CDKN1B CDKN1A
5 12.38 CDKN2C CDKN1B CDKN1A CDC73
6
Show member pathways
12.27 PLCB3 MEN1 GNAS CDKN2C CDKN2B CDKN1B
7
Show member pathways
12.23 CDKN2C CDKN2B CDKN1B CDKN1A
8 12.13 MEN1 CDKN2C CDKN1B CDKN1A
9
Show member pathways
12.02 SST PLCB3 GNAS GAST
10 11.91 MEN1 CDKN2C CDKN2B CDKN1B CDKN1A
11 11.81 PYGM PLCB3 GNAS
12 11.78 SCT PLCB3 GNAS
13 11.73 CDKN2B CDKN1B CDKN1A
14 11.62 CDKN2C CDKN1B CDKN1A
15 11.6 PLCB3 GNAS CDKN1B CDKN1A
16 11.53 CDKN2B CDKN1B CDKN1A
18 11.33 RET CDKN1B CDKN1A
19 11.3 CDKN2B CDKN1B CDKN1A
20 11.26 PLCB3 GNAS CASR
21 11.17 PRKAR1A PLCB3 GNAS
22 11.05 PLCB3 JUND GNAS CDKN1A CASR
23 10.4 SCT GAST

GO Terms for Multiple Endocrine Neoplasia, Type I

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

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.1 PRKAR1A PLCB3 MEN1 JUND CDKN1B CDKN1A

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.99 RET PRKAR1A CDKN2C CDKN2B CDKN1B CDKN1A
2 cell cycle arrest GO:0007050 9.78 CDKN2C CDKN2B CDKN1B CDKN1A
3 response to organic cyclic compound GO:0014070 9.76 JUND CDKN1B CDKN1A CASR
4 response to drug GO:0042493 9.73 SST RET JUND GNAS CDKN1B CDKN1A
5 G1/S transition of mitotic cell cycle GO:0000082 9.71 CDKN2C CDKN1B CDKN1A
6 negative regulation of epithelial cell proliferation GO:0050680 9.71 MEN1 CDKN2B CDKN1B CDC73
7 negative regulation of cell proliferation GO:0008285 9.7 SST MEN1 CDKN2C CDKN2B CDKN1B CDKN1A
8 negative regulation of G1/S transition of mitotic cell cycle GO:2000134 9.67 CDKN2C CDKN2B CDKN1A CDC73
9 regulation of cyclin-dependent protein serine/threonine kinase activity GO:0000079 9.62 CDKN2C CDKN2B CDKN1B CDKN1A
10 positive regulation of cAMP-mediated signaling GO:0043950 9.55 SCT GNAS
11 regulation of cell cycle G1/S phase transition GO:1902806 9.52 CDKN1B CDKN1A
12 negative regulation of cyclin-dependent protein kinase activity GO:1904030 9.49 CDKN1B CDKN1A
13 negative regulation of cardiac muscle tissue regeneration GO:1905179 9.43 CDKN1B CDKN1A
14 negative regulation of phosphorylation GO:0042326 9.26 CDKN2C CDKN2B CDKN1B CDKN1A
15 negative regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045736 9.02 MEN1 CDKN2C CDKN2B CDKN1B CDKN1A

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

# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.65 CDKN2C CDKN2B CDKN1B CDKN1A CASR
2 kinase activity GO:0016301 9.63 RET PRKAR1A CDKN2C CDKN2B CDKN1B CDKN1A
3 hormone activity GO:0005179 9.26 SST SCT PRL GAST
4 cyclin-dependent protein serine/threonine kinase inhibitor activity GO:0004861 8.92 CDKN2C CDKN2B CDKN1B CDKN1A

Sources for Multiple Endocrine Neoplasia, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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