MEN1
MCID: MLT156
MIFTS: 72

Multiple Endocrine Neoplasia, Type I (MEN1)

Categories: Cancer diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Multiple Endocrine Neoplasia, Type I

MalaCards integrated aliases for Multiple Endocrine Neoplasia, Type I:

Name: Multiple Endocrine Neoplasia, Type I 57
Multiple Endocrine Neoplasia Type 1 11 24 19 58 75 53 43 14 71
Wermer Syndrome 57 11 24 19 58
Men1 57 24 19 58 73
Multiple Endocrine Neoplasia, Type 1 28 5
Multiple Endocrine Neoplasia 1 57 12
Familial Multiple Endocrine Neoplasia Type I 73
Neoplasia, Endocrine, Multiple, Type 1 38
Endocrine Adenomatosis, Multiple 57
Multiple Endocrine Adenomatosis 24
Endocrine Adenomatosis Multiple 19
Multiple Endocrine Neoplasia 71
Wermer's Syndrome 11
Men1 Syndrome 24
Men Type I 11
Men I 57
Mea I 57
Men 1 19

Characteristics:


Inheritance:

Multiple Endocrine Neoplasia, Type I: Autosomal dominant 57
Multiple Endocrine Neoplasia Type 1: Autosomal dominant 58

Prevelance:

Multiple Endocrine Neoplasia Type 1: 1-9/100000 (Europe) 58

Age Of Onset:

Multiple Endocrine Neoplasia Type 1: All ages 58

GeneReviews:

24
Penetrance The age-related penetrance for all clinical features surpasses 50% by age 20 years and 95% by age 40 years [brandi et al 2021].

Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Rare endocrine diseases


Summaries for Multiple Endocrine Neoplasia, Type I

GARD: 19 Multiple endocrine neoplasia, type 1 (MEN1) causes the growth of tumors in both the endocrine system (the body's network of hormone-producing glands) and non-endocrine system. Symptoms of MEN1 include 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. Additional signs and symptoms of MEN1 may depend on the type of tumor present and which hormones are being secreted. The most common symptoms are cause by an 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 genetic variants in the MEN1 gene and is inherited in an autosomal dominant pattern. It is diagnosed based on the presence of two or more endocrine tumors in one person. The results of genetic testing can help confirm the diagnosis.

MalaCards based summary: Multiple Endocrine Neoplasia, Type I, also known as multiple endocrine neoplasia type 1, is related to gastric neuroendocrine neoplasm 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 Prolactin Signaling and Signal Transduction. The drugs Dexlansoprazole and Lansoprazole have been mentioned in the context of this disorder. Affiliated tissues include pituitary, pancreas and thyroid, and related phenotypes are hypercalcemia and primary hyperparathyroidism

OMIM®: 57 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) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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.

Orphanet: 58 A rare inherited cancer syndrome, characterized by the development of multiple neuroendocrine tumors of the parathyroids, gastro-entero-pancreatic tract, and anterior pituitary gland, and less commonly the adrenal cortical gland, thymus and bronchi, with other non-endocrine tumors in some patients.

Disease Ontology: 11 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.

Wikipedia: 75 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 605)
# Related Disease Score Top Affiliating Genes
1 gastric neuroendocrine neoplasm 32.7 SST MEN1 GAST CHGA
2 insulinoma 32.7 SST SCT MEN1 GAST CHGA CASR
3 multiple endocrine neoplasia, type iia 32.5 SDHD RET MEN1 CDKN1B CDC73
4 hyperparathyroidism 1 32.4 MEN1 CDC73
5 multiple endocrine neoplasia, type iib 32.4 SDHD RET MEN1 CDKN1B
6 acth-secreting pituitary adenoma 32.4 SST PRL PRKAR1A MEN1
7 multiple endocrine neoplasia, type iv 32.3 RET PRKAR1A MEN1 GNAS CDKN2C CDKN1B
8 secondary hyperparathyroidism 32.2 PRKAR1A MEN1 CASR
9 paraganglioma 32.1 SST SDHD RET MEN1 CHGA
10 atrophic gastritis 32.0 SST SCT MEN1 GAST CHGA
11 hyperparathyroidism 2 with jaw tumors 32.0 RET MEN1 CDC73 CASR
12 neurofibromatosis, type i 32.0 SST SDHD RET MEN1
13 parathyroid gland disease 31.9 RET PRL MEN1 GAST CDC73 CASR
14 von hippel-lindau syndrome 31.9 SST SDHD RET MEN1 GAST CHGA
15 pancreatic endocrine carcinoma 31.9 SST MEN1 GAST CHGA
16 thyroid gland cancer 31.9 SST SDHD RET MEN1 GAST CHGA
17 thyroid gland medullary carcinoma 31.9 SST RET MEN1 GAST CHGA
18 acth-independent macronodular adrenal hyperplasia 31.9 PRKAR1A MEN1 GNAS
19 pulmonary neuroendocrine tumor 31.8 SST MEN1 CHGA
20 small intestine neuroendocrine neoplasm 31.8 SST MEN1 CDKN1B
21 skin lipoma 31.8 RET MEN1 GAST
22 hypocalciuric hypercalcemia, familial, type i 31.8 MEN1 CDKN1B CDC73 CASR
23 gastritis, familial giant hypertrophic 31.8 SST MEN1 GAST
24 somatostatinoma 31.8 SST MEN1 GAST CHGA
25 large cell neuroendocrine carcinoma 31.8 SST MEN1 CHGA
26 non-functioning pancreatic endocrine tumor 31.8 SST MEN1 GAST CHGA
27 duodenal gastrinoma 31.8 SST SCT MEN1 GAST CHGA
28 gastrointestinal neuroendocrine benign tumor 31.8 SST MEN1 GAST CHGA
29 zollinger-ellison syndrome 31.8 SST SCT MEN1 GAST CHGA
30 lung large cell carcinoma 31.8 SST MEN1 CHGA
31 pituitary infarct 31.8 SST PRL MEN1
32 gastrointestinal neuroendocrine tumor 31.8 SST MEN1 GAST CHGA
33 multiple mucosal neuroma 31.8 RET MEN1
34 pancreatic serous cystadenoma 31.8 MEN1 CHGA
35 serotonin syndrome 31.8 SST MEN1 GAST CHGA
36 gastrointestinal stromal tumor 31.8 SST SDHD RET MEN1 CHGA
37 hypocalciuric hypercalcemia, familial, type ii 31.8 MEN1 CDC73 CASR
38 pancreatic somatostatinoma 31.8 SST SCT MEN1 GAST
39 ossifying fibroma 31.8 MEN1 GNAS CDC73
40 hormone producing pituitary cancer 31.8 SST PRL PRKAR1A MEN1 GNAS
41 dicer1 syndrome 31.8 PRKAR1A MEN1 GNAS
42 sublingual gland cancer 31.8 RET MEN1
43 mccune-albright syndrome 31.8 SST PRL PRKAR1A MEN1 GNAS
44 gastrointestinal system benign neoplasm 31.8 SST MEN1 GAST CHGA
45 small intestine benign neoplasm 31.8 SST MEN1 GAST CHGA CDKN1B
46 paraganglioma and gastric stromal sarcoma 31.8 SDHD RET MEN1
47 adrenal cortical carcinoma 31.8 SDHD RET PRKAR1A MEN1 GNAS CHGA
48 familial hypocalciuric hypercalcemia 31.8 RET MEN1 CDKN2C CDKN1B CDC73 CASR
49 prolactin producing pituitary tumor 31.8 PRL MEN1
50 gastric gastrinoma 31.8 SST SCT MEN1 GAST CHGA

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 30 (show top 50) (show all 87)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypercalcemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003072
2 primary hyperparathyroidism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008200
3 parathyroid hyperplasia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008208
4 angiofibromas 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010615
5 impairment of activities of daily living 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0031058
6 gastroesophageal reflux 58 30 Frequent (33%) Frequent (79-30%)
HP:0002020
7 reduced bone mineral density 58 30 Frequent (33%) Frequent (79-30%)
HP:0004349
8 multiple lipomas 58 30 Frequent (33%) Frequent (79-30%)
HP:0001012
9 abdominal pain 58 30 Frequent (33%) Frequent (79-30%)
HP:0002027
10 hypercalciuria 58 30 Frequent (33%) Frequent (79-30%)
HP:0002150
11 peptic ulcer 58 30 Frequent (33%) Frequent (79-30%)
HP:0004398
12 weight loss 58 30 Frequent (33%) Frequent (79-30%)
HP:0001824
13 impotence 58 30 Frequent (33%) Frequent (79-30%)
HP:0000802
14 pituitary prolactin cell adenoma 58 30 Frequent (33%) Frequent (79-30%)
HP:0006767
15 galactorrhea 58 30 Frequent (33%) Frequent (79-30%)
HP:0100829
16 hypergastrinemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0500167
17 zollinger-ellison syndrome 58 30 Frequent (33%) Frequent (79-30%)
HP:0002044
18 decreased male libido 58 30 Frequent (33%) Frequent (79-30%)
HP:0040306
19 adrenocortical abnormality 58 30 Frequent (33%) Frequent (79-30%)
HP:0000849
20 large cafe-au-lait macules with irregular margins 58 30 Frequent (33%) Frequent (79-30%)
HP:0005605
21 depression 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000716
22 constipation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002019
23 hypertension 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000822
24 dehydration 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001944
25 vomiting 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002013
26 nephrolithiasis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000787
27 anorexia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002039
28 hematemesis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002248
29 headache 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002315
30 meningioma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002858
31 goiter 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000853
32 lethargy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001254
33 adrenocortical carcinoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006744
34 osteolysis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002797
35 pituitary growth hormone cell adenoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011760
36 thyroid carcinoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002890
37 increased susceptibility to fractures 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002659
38 confusion 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001289
39 short attention span 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000736
40 gingival fibromatosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000169
41 amenorrhea 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000141
42 duodenal ulcer 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002588
43 nausea 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002018
44 melena 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002249
45 shortened qt interval 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012232
46 proportionate tall stature 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011407
47 intestinal carcinoid 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006723
48 insulinoma 58 30 Very rare (1%) Occasional (29-5%)
HP:0012197
49 confetti-like hypopigmented macules 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007449
50 primary hypercortisolism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001579

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

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:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.2 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
2 no effect GR00402-S-2 10.2 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
3 Decreased viability GR00221-A-1 9.91 CDKN1B CDKN2C PRKAR1A RET SDHD
4 Decreased viability GR00221-A-2 9.91 PRKAR1A RET SDHD
5 Decreased viability GR00221-A-3 9.91 PRKAR1A
6 Decreased viability GR00221-A-4 9.91 PRKAR1A RET SDHD
7 Decreased viability GR00249-S 9.91 CDKN2C SDHD
8 Decreased viability GR00301-A 9.91 CDKN2C RET
9 Decreased viability GR00381-A-1 9.91 SDHD
10 Decreased viability GR00402-S-2 9.91 RET

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

45 (show all 21)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.54 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
2 neoplasm MP:0002006 10.41 CDC73 CDKN1A CDKN1B CDKN2B CDKN2C GAST
3 endocrine/exocrine gland MP:0005379 10.41 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
4 nervous system MP:0003631 10.4 CASR CDC73 CDKN1A CDKN1B CDKN2C CHGA
5 growth/size/body region MP:0005378 10.34 CASR CDC73 CDKN1A CDKN1B CDKN2C CHGA
6 renal/urinary system MP:0005367 10.32 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
7 muscle MP:0005369 10.31 CASR CDC73 CDKN1A CDKN1B CHGA GNAS
8 behavior/neurological MP:0005386 10.31 CASR CDC73 CDKN1A CDKN1B CDKN2C GNAS
9 immune system MP:0005387 10.24 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
10 cellular MP:0005384 10.23 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
11 embryo MP:0005380 10.19 CDC73 CDKN1A CDKN1B GNAS JUND MEN1
12 digestive/alimentary MP:0005381 10.18 CASR CDC73 CDKN1A CDKN1B GAST GNAS
13 cardiovascular system MP:0005385 10.17 CDC73 CDKN1A CDKN1B CDKN2C CHGA GNAS
14 liver/biliary system MP:0005370 10.16 CDC73 CDKN1A CDKN1B GNAS JUND MEN1
15 no phenotypic analysis MP:0003012 10.14 CDKN1A CDKN1B CDKN2B CHGA GNAS RET
16 adipose tissue MP:0005375 10.09 CDC73 CDKN1A CDKN1B GNAS JUND PRKAR1A
17 reproductive system MP:0005389 10.07 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
18 respiratory system MP:0005388 9.97 CDC73 CDKN1A CDKN1B CDKN2C GNAS JUND
19 hematopoietic system MP:0005397 9.93 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
20 mortality/aging MP:0010768 9.89 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
21 integument MP:0010771 9.32 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C

Drugs & Therapeutics for Multiple Endocrine Neoplasia, Type I

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

(show all 49)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexlansoprazole Approved, Investigational Phase 4 138530-94-6 9578005
2
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
3 Gastrointestinal Agents Phase 4
4 Anti-Ulcer Agents Phase 4
5 Antacids Phase 4
6 Proton Pump Inhibitors Phase 4
7
Somatostatin Approved, Investigational Phase 3 38916-34-6, 51110-01-1 53481605 16129706
8 Hormones Phase 3
9 Hormone Antagonists Phase 3
10
Aflibercept Approved Phase 2 862111-32-8 124490314
11
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
12
Parathyroid hormone Approved, Investigational Phase 2 9002-64-6
13
Everolimus Approved Phase 2 159351-69-6 70789204 6442177
14
Lenvatinib Approved, Investigational Phase 2 417716-92-8 9823820
15
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030
16
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239
17
Erlotinib Approved, Investigational Phase 2 183319-69-9, 183321-74-6 176870
18
Pertuzumab Approved Phase 2 380610-27-5
19 Angiogenesis Inhibitors Phase 2
20 Endothelial Growth Factors Phase 2
21 Mitogens Phase 2
22 Antineoplastic Agents, Hormonal Phase 2
23 Dihydroxyphenylalanine Phase 2
24 Protein Kinase Inhibitors Phase 2
25 Antineoplastic Agents, Immunological Phase 2
26 Immunoglobulins, Intravenous Phase 1
27 Immunoglobulins Phase 1
28 Antibodies Phase 1
29 gamma-Globulins Phase 1
30 Rho(D) Immune Globulin Phase 1
31
Vancomycin Approved 1404-90-6 14969
32
Histamine Approved, Investigational 51-45-6 774
33
Morphine Approved, Investigational 57-27-2 5288826
34
Ethanol Approved 64-17-5 702
35
Polidocanol Approved 9002-92-0 78933
36
Salmon calcitonin Approved, Investigational 47931-85-1 155817456
37
Leflunomide Approved, Investigational 75706-12-6 3899
38
Formaldehyde Approved, Vet_approved 50-00-0 712
39
D-Phenylalanine Approved, Experimental, Investigational, Nutraceutical Early Phase 1 63-91-2, 673-06-3 6140 71567
40
Calcitonin gene-related peptide Investigational 83652-28-2 91976570
41
Histamine phosphate 51-74-1 134614
42 Calcium, Dietary
43
Calcitonin
44 Katacalcin 16172926
45 Immunosuppressive Agents
46 Immunologic Factors
47 Radiopharmaceuticals Early Phase 1
48
Edotreotide Early Phase 1 23724894
49
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show all 37)
# 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 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
3 Perfusion CT as Predictive Biomarker in a Phase II Study of Ziv-Aflibercept in Patients With Advanced Pancreatic Neuroendocrine Tumors Completed NCT02101918 Phase 2
4 A Phase 2 Study of GW786034 (Pazopanib) in Advanced Low-Grade or Intermediate-Grade Neuroendocrine Carcinoma Completed NCT00454363 Phase 2 Pazopanib Hydrochloride
5 Studies of Hyperparathyroidism and Related Disorders Completed NCT00001277 Phase 2 68Ga-Dotatate;18F-DOPA
6 Phase I/II Trial of Vandetanib (ZD6474, ZACTIMA) in Children and Adolescents With Hereditary Medullary Thyroid Carcinoma Completed NCT00514046 Phase 1, Phase 2 Vandetanib
7 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
8 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)
9 A Phase II Study of Lenvatinib in Combination With Everolimus in Patients With Advanced Carcinoid Tumors Recruiting NCT03950609 Phase 2 Everolimus;Lenvatinib
10 Phase II Study of Sorafenib (BAY 43-9006) in Patients With Metastatic Medullary Thyroid Carcinoma 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 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
13 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
14 A Pilot Study to Investigate Germ-Line MEN1 and SDHD Gene Mutation in Familial Cases of Carcinoid Cancer Unknown status NCT00672269
15 Type 1 Multiple Endocrine Neoplasia : a Cohort Study of the Endocrine Tumor Study Group (GTE) Unknown status NCT03262129
16 Revisiting the Evidence for Routine Transcervical Thymectomy for the Prevention of Thymic Carcinoid Tumours in MEN-1 Patients a Case Series Completed NCT05061784
17 A Pilot Study of Genetic Evaluation of Families With Endocrine Cancers Completed NCT01794676
18 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
19 Psychosocial Aspects of Multiple Endocrine Neoplasia (MEN) Syndromes Completed NCT00501449
20 Genetic Polymorphisms Associated With Histamine Disposition in Children With Vancomycin Associated Red Man Syndrome (RMS) Completed NCT00824122
21 Endoscopic Ultrasound-guided Fine-needle Injection for Multiple Endocrine Neoplasia Type 1-related Pancreatic Neuroendocrine Tumors: a Prospective Multicenter Study Recruiting NCT05554744
22 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
23 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
24 PRIME Study: Precision Radiotherapy Using MR-linac for Pancreatic Neuroendocrine Tumours in MEN1 Patients Recruiting NCT05037461
25 Natural History Study of Parathyroid Disorders Recruiting NCT04969926
26 Study and Follow-up of Multiple Endocrine Neoplasia Type 1 Recruiting NCT03348501
27 Study and Monitoring of Multiple Endocrine Neoplasia Type 1 Recruiting NCT03966612
28 Metabolomics and Genetic Diagnosing Pancreatic Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1 Patients Recruiting NCT03048266
29 Variables That Are Correlated to Developing Multiple Endocrine Neoplasia (MEN) and Pancreatic Neuroendocrine Tumors (PNET) Recruiting NCT03053999
30 The Registry of Oncology Outcomes Associated With Testing and Treatment (ROOT) Recruiting NCT04028479 Systemic Treatment (T)
31 Genetic Modifying Factors and Pheochromocytomas in Multiple Endocrine Neoplasia Type 2 Recruiting NCT05158712
32 Overall and Disease Specific Survival in Patients With Confirmed MEN1 With or Without PNET (Pancreatic Neuroendocrine Tumors) Active, not recruiting NCT03043508
33 Registry for Multiple Endocrine Neoplasia Syndromes: MEN1/MEN2 Active, not recruiting NCT03048279
34 Family Studies in Metabolic Diseases and Mineral Metabolism Active, not recruiting NCT00001345
35 Leflunomide Treatment for MEN1 Patients - the LUMEN1 Trial Not yet recruiting NCT05605587 Leflunomide 20 mg
36 An Expanded Access Imaging of Neuroendocrine Tumors Using 68Ga-DOTA-TOC Terminated NCT03001349 Early Phase 1 Gallium Ga 68-Edotreotide
37 Gene Expression in Hyperparathyroidism: Identifying Molecular Differences in MEN1 Patients Versus Young MEN1 Negative Patients Terminated NCT03044600

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 28 MEN1

Anatomical Context for Multiple Endocrine Neoplasia, Type I

Organs/tissues related to Multiple Endocrine Neoplasia, Type I:

MalaCards : Pituitary, Pancreas, Thyroid, Spinal Cord, Thymus, Pancreatic Islet, Kidney
ODiseA: Pituitary

Publications for Multiple Endocrine Neoplasia, Type I

Articles related to Multiple Endocrine Neoplasia, Type I:

(show top 50) (show all 6318)
# Title Authors PMID Year
1
Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene. 62 24 57 5
17879353 2008
2
Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. 62 24 57 5
14985373 2004
3
Pituitary disease in MEN type 1 (MEN1): data from the France-Belgium MEN1 multicenter study. 62 24 57 5
11836268 2002
4
Characterization of mutations in patients with multiple endocrine neoplasia type 1. 62 24 57 5
9463336 1998
5
Somatic mutation of the MEN1 gene in parathyroid tumours. 62 24 57 5
9241276 1997
6
Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism. 53 62 57 5
9709921 1998
7
Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states. 53 62 57 5
9215689 1997
8
Effect of multiple endocrine neoplasia type 1 (MEN1) gene mutations on premature mortality in familial MEN1 syndrome with founder mutations. 62 57 5
15240620 2004
9
Germline mutations of the MEN1 gene in Korean families with multiple endocrine neoplasia type 1 (MEN1) or MEN1-related disorders. 62 57 5
12791038 2003
10
A novel six-nucleotide insertion in exon 4 of the MEN1 gene, 878insCTGCAG, in three patients with familial insulinoma and primary hyperparathyroidism. 62 57 5
12417605 2002
11
Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein. 62 57 5
12112656 2002
12
Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1. 62 57 5
12050235 2002
13
Molecular and genetic mechanisms of tumorigenesis in multiple endocrine neoplasia type-1. 62 57 5
11579199 2001
14
Familial isolated primary hyperparathyroidism--a multiple endocrine neoplasia type 1 variant? 53 62 24 5
11454510 2001
15
Identification of five novel germline mutations of the MEN1 gene in Japanese multiple endocrine neoplasia type 1 (MEN1) families. 62 57 5
9832038 1998
16
Novel V184E MEN1 germline mutation in a Japanese kindred with familial hyperparathyroidism. 62 57 5
9843042 1998
17
Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders. 62 57 5
9683585 1998
18
Common ancestral mutation in the MEN1 gene is likely responsible for the prolactinoma variant of MEN1 (MEN1Burin) in four kindreds from Newfoundland. 62 57 5
9554741 1998
19
Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1. 62 57 5
9215690 1997
20
Positional cloning of the gene for multiple endocrine neoplasia-type 1. 62 57 5
9103196 1997
21
Variant multiple endocrine neoplasia I (MEN IBurin): further studies and non-linkage to HLA. 62 57 5
2857681 1985
22
Cinacalcet therapy in patients affected by primary hyperparathyroidism associated to Multiple Endocrine Neoplasia Syndrome type 1 (MEN1). 62 24 5
26224587 2016
23
Impact of long-acting octreotide in patients with early-stage MEN1-related duodeno-pancreatic neuroendocrine tumours. 62 24 5
24443791 2014
24
Natural course of small, asymptomatic neuroendocrine pancreatic tumours in multiple endocrine neoplasia type 1: an endoscopic ultrasound imaging study. 62 24 5
17158764 2006
25
Gonadotroph tumor associated with multiple endocrine neoplasia type 1. 62 24 5
15522929 2005
26
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. 62 24 57
15531478 2004
27
Multiple endocrine neoplasia type 1 variant with frequent prolactinoma and rare gastrinoma. 62 24 57
15292304 2004
28
Do patients with multiple endocrine neoplasia syndrome type 1 benefit from periodical screening? 62 24 5
14641000 2003
29
Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism. 62 24 5
12699448 2003
30
Involvement of the MEN1 gene locus in familial isolated hyperparathyroidism. 62 24 5
12213668 2002
31
Adrenal involvement in multiple endocrine neoplasia type 1. 62 24 5
12016472 2002
32
Guidelines for diagnosis and therapy of MEN type 1 and type 2. 62 24 57
11739416 2001
33
Pituitary macroadenoma in a 5-year-old: an early expression of multiple endocrine neoplasia type 1. 62 24 5
11134142 2000
34
Multiple facial angiofibromas and collagenomas in patients with multiple endocrine neoplasia type 1. 62 24 57
9236523 1997
35
Prolactinomas in familial multiple endocrine neoplasia syndrome type I. Relationship to HLA and carcinoid tumors. 57 5
6108714 1980
36
Menin promotes the Wnt signaling pathway in pancreatic endocrine cells. 53 62 5
19074834 2008
37
Diagnosis by serendipity: Cushing syndrome attributable to cortisol-producing adrenal adenoma as the initial manifestation of multiple endocrine neoplasia type 1 due to a rare splicing site MEN1 gene mutation. 53 62 5
18753104 2008
38
Tumor suppressor menin: the essential role of nuclear localization signal domains in coordinating gene expression. 53 62 5
16449969 2006
39
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. 53 62 5
15870131 2005
40
A report of a national mutation testing service for the MEN1 gene: clinical presentations and implications for mutation testing. 53 62 5
15635078 2005
41
Direct binding of DNA by tumor suppressor menin. 53 62 5
15331604 2004
42
Hypermutability in a Drosophila model for multiple endocrine neoplasia type 1. 53 62 57
15333582 2004
43
Genetic screening methods for the detection of mutations responsible for multiple endocrine neoplasia type 1. 53 62 5
15464422 2004
44
Menin missense mutants associated with multiple endocrine neoplasia type 1 are rapidly degraded via the ubiquitin-proteasome pathway. 53 62 5
15254225 2004
45
Unusual presentation of multiple endocrine neoplasia type 1 in a young woman with a novel mutation of the MEN1 gene. 53 62 5
15205994 2004
46
Prospective controlled trial of a standardized meal stimulation test in the detection of pancreaticoduodenal endocrine tumours in patients with multiple endocrine neoplasia type 1. 53 62 5
11578300 2001
47
Identification of MEN1 gene mutations in families with MEN 1 and related disorders. 53 62 5
10993647 2000
48
Criteria for mutation analysis in MEN 1-suspected patients: MEN 1 case-finding. 53 62 5
10849016 2000
49
MEN1 gene mutation analysis in Italian patients with multiple endocrine neoplasia type 1. 53 62 5
10664520 2000
50
Menin, the product of the MEN1 gene, is a nuclear protein. 53 62 57
9465067 1998

Variations for Multiple Endocrine Neoplasia, Type I

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

5 (show top 50) (show all 1460)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MEN1 NM_001370259.2(MEN1):c.593G>A (p.Trp198Ter) SNV Pathogenic
16682 rs104894258 GRCh37: 11:64575424-64575424
GRCh38: 11:64807952-64807952
2 MEN1 NM_001370259.2(MEN1):c.1306T>A (p.Trp436Arg) SNV Pathogenic
16686 rs104894259 GRCh37: 11:64572550-64572550
GRCh38: 11:64805078-64805078
3 MEN1 NM_001370259.2(MEN1):c.1307G>A (p.Trp436Ter) SNV Pathogenic
16687 rs104894260 GRCh37: 11:64572549-64572549
GRCh38: 11:64805077-64805077
4 MEN1 NM_001370259.2(MEN1):c.763G>A (p.Glu255Lys) SNV Pathogenic
16696 rs104894268 GRCh37: 11:64575044-64575044
GRCh38: 11:64807572-64807572
5 MEN1 NM_001370259.2(MEN1):c.551T>A (p.Val184Glu) SNV Pathogenic
16697 rs104894262 GRCh37: 11:64575466-64575466
GRCh38: 11:64807994-64807994
6 MEN1 NM_001370259.2(MEN1):c.631_634del (p.Val211fs) DEL Pathogenic
16702 rs1941851693 GRCh37: 11:64575383-64575386
GRCh38: 11:64807911-64807914
7 MEN1 NM_001370259.2(MEN1):c.1062C>A (p.Cys354Ter) SNV Pathogenic
16705 rs104894265 GRCh37: 11:64573230-64573230
GRCh38: 11:64805758-64805758
8 MEN1 NG_008929.1:g.11484_11495del DEL Pathogenic
16708 rs760199250 GRCh37: 11:64572272-64572283
GRCh38: 11:64804800-64804811
9 MEN1 NM_001370259.2(MEN1):c.211_212del (p.Pro71fs) DEL Pathogenic
36526 rs386134251 GRCh37: 11:64577370-64577371
GRCh38: 11:64809898-64809899
10 MEN1 NM_001370259.2(MEN1):c.1351-1G>A SNV Pathogenic
241801 rs794728629 GRCh37: 11:64572289-64572289
GRCh38: 11:64804817-64804817
11 MEN1 NM_001370259.2(MEN1):c.323del (p.Arg108fs) DEL Pathogenic
241811 rs878855191 GRCh37: 11:64577259-64577259
GRCh38: 11:64809787-64809787
12 MEN1 NM_001370259.2(MEN1):c.358A>T (p.Lys120Ter) SNV Pathogenic
241812 rs878855192 GRCh37: 11:64577224-64577224
GRCh38: 11:64809752-64809752
13 MEN1 NM_001370259.2(MEN1):c.633del (p.Asn212fs) DEL Pathogenic
241818 rs878855196 GRCh37: 11:64575384-64575384
GRCh38: 11:64807912-64807912
14 MEN1 NC_000011.10:g.(?_64803514)_(64804816_?)del DEL Pathogenic
417317 GRCh37: 11:64570986-64572288
GRCh38: 11:64803514-64804816
15 MEN1 NM_001370259.2(MEN1):c.168del (p.Asn57fs) DEL Pathogenic
403837 rs1060499990 GRCh37: 11:64577414-64577414
GRCh38: 11:64809942-64809942
16 MEN1 NM_001370259.2(MEN1):c.1351-2A>G SNV Pathogenic
403832 rs1060499986 GRCh37: 11:64572290-64572290
GRCh38: 11:64804818-64804818
17 MEN1 NM_001370259.2(MEN1):c.824+1G>T SNV Pathogenic
403810 rs1060499976 GRCh37: 11:64574650-64574650
GRCh38: 11:64807178-64807178
18 MEN1 NM_001370259.2(MEN1):c.252_253insTT (p.Ile85fs) INSERT Pathogenic
403822 rs386134253 GRCh37: 11:64577329-64577330
GRCh38: 11:64809857-64809858
19 MEN1 NC_000011.10:g.(?_64803514)_(64810132_?)del DEL Pathogenic
417316 GRCh37: 11:64570986-64577604
GRCh38: 11:64803514-64810132
20 MEN1 NM_001370259.2(MEN1):c.318T>A (p.Tyr106Ter) SNV Pathogenic
403833 rs1060499987 GRCh37: 11:64577264-64577264
GRCh38: 11:64809792-64809792
21 MEN1 NM_001370259.2(MEN1):c.280_284dup (p.Gln96fs) DUP Pathogenic
403815 rs1555166494 GRCh37: 11:64577297-64577298
GRCh38: 11:64809825-64809826
22 MEN1 NM_001370259.2(MEN1):c.1412G>A (p.Trp471Ter) SNV Pathogenic
403839 rs1060499991 GRCh37: 11:64572227-64572227
GRCh38: 11:64804755-64804755
23 MEN1 NM_001370259.2(MEN1):c.1024del (p.Ala342fs) DEL Pathogenic
16684 rs1555164986 GRCh37: 11:64573729-64573729
GRCh38: 11:64806257-64806257
24 MEN1 NM_001370259.2(MEN1):c.1375_1382del (p.Ser459fs) DEL Pathogenic
457290 rs1555163883 GRCh37: 11:64572257-64572264
GRCh38: 11:64804785-64804792
25 MEN1 NM_001370259.2(MEN1):c.739_745del (p.Ile247fs) DEL Pathogenic
457337 rs1555165503 GRCh37: 11:64575062-64575068
GRCh38: 11:64807590-64807596
26 MEN1 NM_001370259.2(MEN1):c.1382_1404dup (p.Glu469fs) DUP Pathogenic
403843 rs1555163780 GRCh37: 11:64572234-64572235
GRCh38: 11:64804762-64804763
27 MEN1 NM_001370259.2(MEN1):c.317_318del (p.Tyr106fs) DEL Pathogenic
457321 rs1555166466 GRCh37: 11:64577264-64577265
GRCh38: 11:64809792-64809793
28 MEN1 NM_001370259.2(MEN1):c.1351-1G>C SNV Pathogenic
200985 rs794728629 GRCh37: 11:64572289-64572289
GRCh38: 11:64804817-64804817
29 MEN1 NM_001370259.2(MEN1):c.1535C>G (p.Ser512Ter) SNV Pathogenic
457305 rs141679530 GRCh37: 11:64572104-64572104
GRCh38: 11:64804632-64804632
30 MEN1 NM_001370259.2(MEN1):c.940_1050-227del DEL Pathogenic
457345 GRCh37: 11:64573469-64573813
GRCh38: 11:64805997-64806341
31 MEN1 NM_001370259.2(MEN1):c.548G>A (p.Trp183Ter) SNV Pathogenic
201009 rs794728650 GRCh37: 11:64575469-64575469
GRCh38: 11:64807997-64807997
32 MEN1 NM_001370259.2(MEN1):c.1103C>A (p.Ala368Asp) SNV Pathogenic
547518 rs1555164707 GRCh37: 11:64573189-64573189
GRCh38: 11:64805717-64805717
33 MEN1 NM_001370259.2(MEN1):c.322_323insT (p.Arg108fs) INSERT Pathogenic
567215 rs1565651568 GRCh37: 11:64577259-64577260
GRCh38: 11:64809787-64809788
34 MEN1 NM_001370259.2(MEN1):c.1674dup (p.Lys559fs) DUP Pathogenic
569154 rs1565635941 GRCh37: 11:64571964-64571965
GRCh38: 11:64804492-64804493
35 MEN1 NM_001370259.2(MEN1):c.625C>T (p.Gln209Ter) SNV Pathogenic
571001 rs1565647767 GRCh37: 11:64575392-64575392
GRCh38: 11:64807920-64807920
36 MEN1 NM_001370259.2(MEN1):c.659G>A (p.Trp220Ter) SNV Pathogenic
574621 rs1565647197 GRCh37: 11:64575148-64575148
GRCh38: 11:64807676-64807676
37 MEN1 NM_001370259.2(MEN1):c.1050-2A>T SNV Pathogenic
576171 rs1565642765 GRCh37: 11:64573244-64573244
GRCh38: 11:64805772-64805772
38 MEN1 NM_001370259.2(MEN1):c.1351-2_*132del DEL Pathogenic
580649 rs1565634591 GRCh37: 11:64571674-64572290
GRCh38: 11:64804202-64804818
39 MEN1 NM_001370259.2(MEN1):c.1334del (p.Gly445fs) DEL Pathogenic
581965 rs1565640081 GRCh37: 11:64572522-64572522
GRCh38: 11:64805050-64805050
40 MEN1 NM_001370259.2(MEN1):c.1174del (p.Glu392fs) DEL Pathogenic
265238 rs386134247 GRCh37: 11:64573118-64573118
GRCh38: 11:64805646-64805646
41 MEN1 NM_001370259.2(MEN1):c.734del (p.Pro245fs) DEL Pathogenic
623186 rs1565646772 GRCh37: 11:64575073-64575073
GRCh38: 11:64807601-64807601
42 MEN1 NM_001370259.2(MEN1):c.495C>A (p.Cys165Ter) SNV Pathogenic
640227 rs1592651767 GRCh37: 11:64575522-64575522
GRCh38: 11:64808050-64808050
43 MEN1 NM_001370259.2(MEN1):c.746_749dup (p.Thr251fs) DUP Pathogenic
642851 rs1592648830 GRCh37: 11:64575057-64575058
GRCh38: 11:64807585-64807586
44 MEN1 NM_001370259.2(MEN1):c.134A>G (p.Glu45Gly) SNV Pathogenic
643100 rs1592660101 GRCh37: 11:64577448-64577448
GRCh38: 11:64809976-64809976
45 MEN1 NM_001370259.2(MEN1):c.758del (p.Ser253fs) DEL Pathogenic
646514 rs1592648765 GRCh37: 11:64575049-64575049
GRCh38: 11:64807577-64807577
46 MEN1 NM_001370259.2(MEN1):c.1050-2A>G SNV Pathogenic
646754 rs1565642765 GRCh37: 11:64573244-64573244
GRCh38: 11:64805772-64805772
47 MEN1 NM_001370259.2(MEN1):c.1219_1220del (p.Asp406_Pro407insTer) DEL Pathogenic
649025 rs1592637455 GRCh37: 11:64572636-64572637
GRCh38: 11:64805164-64805165
48 MEN1 NM_001370259.2(MEN1):c.1311del (p.Thr438fs) DEL Pathogenic
650907 rs1555164184 GRCh37: 11:64572545-64572545
GRCh38: 11:64805073-64805073
49 MEN1 NM_001370259.2(MEN1):c.1220_1221del (p.Pro407fs) DEL Pathogenic
651589 rs1592637440 GRCh37: 11:64572635-64572636
GRCh38: 11:64805163-64805164
50 MEN1 NM_001370259.2(MEN1):c.795G>A (p.Trp265Ter) SNV Pathogenic
653034 rs1592647398 GRCh37: 11:64574680-64574680
GRCh38: 11:64807208-64807208

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 rs1592660101
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 rs1114167543
11 MEN1 p.Ala165Pro VAR_005437 rs1565648656
12 MEN1 p.Ala169Asp VAR_005438
13 MEN1 p.Asp177Tyr VAR_005441 rs1114167494
14 MEN1 p.Ala181Pro VAR_005442 rs376872829
15 MEN1 p.Glu184Asp VAR_005443 rs1555165811
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 rs1565645563
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 rs1555164707
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 rs1592649108
35 MEN1 p.Glu45Lys VAR_039587 rs1114167491
36 MEN1 p.Arg98Leu VAR_039588
37 MEN1 p.Gly110Glu VAR_039589 rs1389398299
38 MEN1 p.His139Pro VAR_039590
39 MEN1 p.His139Arg VAR_039591 rs1114167515
40 MEN1 p.Asp158Val VAR_039592 rs1565648789
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 rs1064793167
48 MEN1 p.Glu184Gln VAR_039600
49 MEN1 p.His186Arg VAR_039601
50 MEN1 p.Trp188Arg VAR_039602 rs1555165791

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

6
# 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 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.22 CDKN1A CDKN1B CDKN2B CDKN2C GNAS PLCB3
2 12.88 SST SCT RET PRKAR1A PLCB3 MEN1
3 12.34 CDKN2C CDKN1B CDKN1A CDC73
4
Show member pathways
12.31 CDKN2C CDKN2B CDKN1B CDKN1A
5
Show member pathways
12.3 CDKN2C CDKN2B CDKN1B CDKN1A
6 12.06 CDKN2C CDKN2B CDKN1B CDKN1A
7
Show member pathways
12.04 CDKN2C CDKN2B CDKN1B CDKN1A
8
Show member pathways
11.98 PYGM PRKAR1A GNAS CDKN2B CDKN1B CDKN1A
9
Show member pathways
11.77 CDKN2C CDKN2B CDKN1B CDKN1A
10 11.72 CDKN2B CDKN1B CDKN1A
11 11.53 PLCB3 GNAS CDKN1B CDKN1A
12 11.52 CDKN2C CDKN1B CDKN1A
13 11.51 CDKN1A CDKN1B CHGA GAST
14 11.48 CDKN2B CDKN1B CDKN1A
16 11.23 PLCB3 GNAS CASR
17 11.14 PRKAR1A PLCB3 GNAS

GO Terms for Multiple Endocrine Neoplasia, Type I

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell population proliferation GO:0008285 10.17 SST MEN1 CDKN2C CDKN2B CDKN1B CDKN1A
2 cellular response to hypoxia GO:0071456 10.11 SDHD JUND CDKN1B CASR
3 cellular senescence GO:0090398 10.01 CDKN2B CDKN1B CDKN1A
4 negative regulation of G1/S transition of mitotic cell cycle GO:2000134 10 CDKN2B CDKN1A CDC73
5 phosphorylation GO:0016310 9.97 CDKN1A CDKN1B CDKN2B CDKN2C PRKAR1A RET
6 negative regulation of epithelial cell proliferation GO:0050680 9.95 MEN1 CDKN2B CDKN1B CDC73
7 response to organic cyclic compound GO:0014070 9.93 JUND CDKN2B CDKN1B CASR
8 regulation of cyclin-dependent protein serine/threonine kinase activity GO:0000079 9.86 CDKN1A CDKN1B CDKN2B CDKN2C
9 negative regulation of cyclin-dependent protein kinase activity GO:1904030 9.78 CDKN1B CDKN1A
10 negative regulation of cell cycle G1/S phase transition GO:1902807 9.77 CDKN1B CDKN2B MEN1
11 regulation of G1/S transition of mitotic cell cycle GO:2000045 9.76 CDKN1A CDKN1B CDKN2B CDKN2C
12 negative regulation of cardiac muscle tissue regeneration GO:1905179 9.73 CDKN1B CDKN1A
13 negative regulation of phosphorylation GO:0042326 9.56 CDKN2C CDKN2B CDKN1B CDKN1A
14 negative regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045736 9.32 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 hormone activity GO:0005179 9.76 SST SCT PRL GAST
2 kinase activity GO:0016301 9.43 RET PRKAR1A CDKN2C CDKN2B CDKN1B CDKN1A
3 cyclin-dependent protein serine/threonine kinase inhibitor activity GO:0004861 9.23 CDKN2C CDKN2B CDKN1B CDKN1A

Sources for Multiple Endocrine Neoplasia, Type I

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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