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MEN1
MCID: MLT156
MIFTS: 72

Multiple Endocrine Neoplasia, Type I (MEN1)

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

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MalaCards integrated aliases for Multiple Endocrine Neoplasia, Type I:

Name: Multiple Endocrine Neoplasia, Type I 57
Multiple Endocrine Neoplasia Type 1 12 74 25 20 58 54 44 15 71
Wermer Syndrome 57 12 25 20 58
Men1 57 25 20 58 73
Multiple Endocrine Neoplasia, Type 1 29 6
Multiple Endocrine Neoplasia 1 57 13
Familial Multiple Endocrine Neoplasia Type I 73
Neoplasia, Endocrine, Multiple, Type 1 39
Endocrine Adenomatosis, Multiple 57
Multiple Endocrine Adenomatosis 25
Endocrine Adenomatosis Multiple 20
Multiple Endocrine Neoplasia 71
Wermer's Syndrome 12
Men1 Syndrome 25
Men Type I 12
Men I 57
Mea I 57
Men 1 20

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®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

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


GeneReviews:

25
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:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Gastrointestinal diseases Endocrine diseases Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare gastroenterological diseases
Rare endocrine diseases


Sources

Summaries for Multiple Endocrine Neoplasia, Type I

About this section
GARD : 20 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. Treatment for MEN1 is focused on early detection and prevention of tumors, and usually involves regular screening to allow for early diagnosis and treatment of endocrine tumors. Treatment guidelines for MEN1 have been published.

MalaCards based summary : Multiple Endocrine Neoplasia, Type I, also known as multiple endocrine neoplasia type 1, is related to insulinoma and pituitary adenoma, prolactin-secreting, 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 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

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® : 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 05-Mar-2021)

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
Sources

Related Diseases for Multiple Endocrine Neoplasia, Type I

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Diseases in the Multiple Endocrine Neoplasia family:

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

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

(show top 50) (show all 572)
# Related Disease Score Top Affiliating Genes
1 insulinoma 32.8 SST SCT MEN1 GAST CHGA
2 pituitary adenoma, prolactin-secreting 32.7 SST PRKAR1A MEN1 GNAS CHGA
3 hyperparathyroidism 1 32.5 MEN1 CDC73
4 multiple endocrine neoplasia, type iib 32.4 SDHD RET MEN1
5 acth-secreting pituitary adenoma 32.2 SST PRKAR1A MEN1 GNAS CDKN1B
6 multiple endocrine neoplasia, type iv 32.2 RET PRKAR1A MEN1 CDKN2C CDKN1B CDC73
7 multiple endocrine neoplasia, type iia 32.1 SYP SDHD RET MEN1 CHGA CDKN1B
8 hemangioma 32.1 SYP RET MEN1 CHGA
9 paraganglioma 32.0 SYP SST SDHD RET MEN1 CHGA
10 pituitary gland disease 32.0 SST PRKAR1A MEN1 GNAS
11 familial isolated pituitary adenoma 32.0 MEN1 CDKN1B
12 pheochromocytoma 32.0 SYP SST SDHD RET MEN1 CHGA
13 thyroid carcinoma, familial medullary 32.0 SST RET PRKAR1A MEN1 GAST CHGA
14 follicular adenoma 32.0 RET MEN1 GNAS CDKN1B
15 parathyroid gland disease 31.9 RET MEN1 GAST CDC73 CASR
16 gastrointestinal stromal tumor 31.9 SYP SST SDHD MEN1 CHGA CDKN1A
17 neurofibromatosis, type i 31.9 SYP SST SDHD RET MEN1
18 neuroblastoma 31.9 SYP SST RET MEN1 CHGA CDKN1B
19 duodenal somatostatinoma 31.9 SST MEN1 GAST
20 hyperparathyroidism 2 with jaw tumors 31.9 RET MEN1 CDC73 CASR
21 functioning pituitary adenoma 31.9 SST PRKAR1A MEN1
22 multiple mucosal neuroma 31.9 RET MEN1
23 zollinger-ellison syndrome 31.9 SST SCT MEN1 GAST CHGA
24 skin lipoma 31.9 RET MEN1
25 small intestine neuroendocrine neoplasm 31.9 SST MEN1 CDKN1B
26 pancreatic endocrine carcinoma 31.9 SYP SST MEN1 GAST CHGA
27 von hippel-lindau syndrome 31.9 SYP SST SDHD RET MEN1 CHGA
28 gastric gastrinoma 31.9 SCT MEN1 GAST CHGA
29 duodenal gastrinoma 31.9 SST SCT MEN1 GAST CHGA
30 non-functioning pancreatic endocrine tumor 31.9 SST MEN1 GAST CHGA
31 duodenum cancer 31.9 SST SCT MEN1 GAST
32 duodenum disease 31.8 SST SCT MEN1 GAST
33 serotonin syndrome 31.8 SST MEN1 GAST CHGA
34 somatostatinoma 31.8 SST MEN1 GAST CHGA
35 clear cell adenoma 31.8 MEN1 CDC73
36 pulmonary neuroendocrine tumor 31.8 SYP SST MEN1 CHGA
37 hormone producing pituitary cancer 31.8 SST PRKAR1A MEN1 GNAS
38 tanycytic ependymoma 31.8 SYP MEN1
39 pituitary infarct 31.8 SST MEN1
40 gastrointestinal system benign neoplasm 31.8 SST MEN1 GAST CHGA
41 thyroid gland medullary carcinoma 31.8 SYP SST RET MEN1 GAST CHGA
42 mccune-albright syndrome 31.8 SST PRKAR1A MEN1 GNAS
43 adrenal cortex disease 31.8 SYP PRKAR1A MEN1
44 thyroid gland cancer 31.8 SYP SST SDHD RET MEN1 GAST
45 cell type benign neoplasm 31.8 SYP SST MEN1 CHGA
46 endocrine pancreas disease 31.8 SST SCT MEN1 GAST CHGA
47 pancreatic cholera 31.8 SST SCT MEN1 GAST CHGA
48 gastrointestinal neuroendocrine benign tumor 31.8 SYP SST MEN1 GAST CHGA
49 gastric neuroendocrine neoplasm 31.8 SYP SST MEN1 GAST CHGA
50 mineral metabolism disease 31.8 MEN1 CDC73 CASR

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



Diseases related to Multiple Endocrine Neoplasia, Type I
Sources

Symptoms & Phenotypes for Multiple Endocrine Neoplasia, Type I

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Human phenotypes related to Multiple Endocrine Neoplasia, Type I:

58 31 (show top 50) (show all 86)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypercalcemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003072
2 primary hyperparathyroidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0008200
3 parathyroid hyperplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008208
4 angiofibromas 58 31 hallmark (90%) Very frequent (99-80%) HP:0010615
5 impairment of activities of daily living 58 31 hallmark (90%) Very frequent (99-80%) HP:0031058
6 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
7 reduced bone mineral density 58 31 frequent (33%) Frequent (79-30%) HP:0004349
8 multiple lipomas 58 31 frequent (33%) Frequent (79-30%) HP:0001012
9 abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002027
10 hypercalciuria 58 31 frequent (33%) Frequent (79-30%) HP:0002150
11 peptic ulcer 58 31 frequent (33%) Frequent (79-30%) HP:0004398
12 weight loss 58 31 frequent (33%) Frequent (79-30%) HP:0001824
13 impotence 58 31 frequent (33%) Frequent (79-30%) HP:0000802
14 pituitary prolactin cell adenoma 58 31 frequent (33%) Frequent (79-30%) HP:0006767
15 galactorrhea 58 31 frequent (33%) Frequent (79-30%) HP:0100829
16 zollinger-ellison syndrome 58 31 frequent (33%) Frequent (79-30%) HP:0002044
17 decreased male libido 58 31 frequent (33%) Frequent (79-30%) HP:0040306
18 adrenocortical abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0000849
19 large cafe-au-lait macules with irregular margins 58 31 frequent (33%) Frequent (79-30%) HP:0005605
20 hypergastrinemia 58 31 frequent (33%) Frequent (79-30%) HP:0500167
21 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
22 constipation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002019
23 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
24 dehydration 58 31 occasional (7.5%) Occasional (29-5%) HP:0001944
25 vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002013
26 anorexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002039
27 nephrolithiasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000787
28 hematemesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002248
29 headache 58 31 occasional (7.5%) Occasional (29-5%) HP:0002315
30 meningioma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002858
31 goiter 58 31 occasional (7.5%) Occasional (29-5%) HP:0000853
32 lethargy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001254
33 adrenocortical carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0006744
34 osteolysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002797
35 growth hormone excess 58 31 occasional (7.5%) Occasional (29-5%) HP:0000845
36 pituitary growth hormone cell adenoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0011760
37 thyroid carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002890
38 increased susceptibility to fractures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002659
39 confusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0001289
40 short attention span 58 31 occasional (7.5%) Occasional (29-5%) HP:0000736
41 gingival fibromatosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000169
42 amenorrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0000141
43 duodenal ulcer 58 31 occasional (7.5%) Occasional (29-5%) HP:0002588
44 abnormal circulating aldosterone 58 31 occasional (7.5%) Occasional (29-5%) HP:0040085
45 shortened qt interval 58 31 occasional (7.5%) Occasional (29-5%) HP:0012232
46 proportionate tall stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0011407
47 nausea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002018
48 melena 58 31 occasional (7.5%) Occasional (29-5%) HP:0002249
49 intestinal carcinoid 58 31 occasional (7.5%) Occasional (29-5%) HP:0006723
50 insulinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0012197

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 05-Mar-2021)

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 9.98 MEN1
2 Decreased viability GR00221-A-1 9.98 CDKN1B CDKN2C PRKAR1A RET SDHD
3 Decreased viability GR00221-A-2 9.98 PRKAR1A RET SDHD
4 Decreased viability GR00221-A-3 9.98 PRKAR1A
5 Decreased viability GR00221-A-4 9.98 PRKAR1A RET SDHD
6 Decreased viability GR00240-S-1 9.98 SST
7 Decreased viability GR00249-S 9.98 CDKN2C PLCB3 PYGM SDHD
8 Decreased viability GR00301-A 9.98 CDKN2C RET
9 Decreased viability GR00381-A-1 9.98 GNAS SCT SDHD
10 Decreased viability GR00386-A-1 9.98 GNAS SYP
11 Decreased viability GR00402-S-2 9.98 RET SCT

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

46 (show all 21)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.44 CASR CDC73 CDKN1A CDKN1B CDKN2C GNAS
2 homeostasis/metabolism MP:0005376 10.42 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
3 endocrine/exocrine gland MP:0005379 10.38 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
4 cellular MP:0005384 10.35 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
5 growth/size/body region MP:0005378 10.34 CASR CDC73 CDKN1A CDKN1B CDKN2C CHGA
6 mortality/aging MP:0010768 10.34 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
7 cardiovascular system MP:0005385 10.32 CDC73 CDKN1A CDKN1B CDKN2C CHGA GNAS
8 immune system MP:0005387 10.32 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
9 hematopoietic system MP:0005397 10.29 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
10 embryo MP:0005380 10.25 CASR CDC73 CDKN1A CDKN1B JUND MEN1
11 digestive/alimentary MP:0005381 10.21 CASR CDC73 CDKN1A CDKN1B GAST MEN1
12 adipose tissue MP:0005375 10.14 CDC73 CDKN1A CDKN1B GNAS JUND PRKAR1A
13 muscle MP:0005369 10.14 CASR CDC73 CDKN1A CDKN1B CHGA GNAS
14 craniofacial MP:0005382 10.11 CASR CDC73 CDKN1A CDKN1B GNAS MEN1
15 integument MP:0010771 10.11 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
16 neoplasm MP:0002006 10.11 CDC73 CDKN1A CDKN1B CDKN2B CDKN2C GAST
17 nervous system MP:0003631 10.1 CASR CDC73 CDKN1A CDKN1B CDKN2C CHGA
18 renal/urinary system MP:0005367 9.85 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
19 no phenotypic analysis MP:0003012 9.8 CDKN1A CDKN1B CDKN2B CHGA GNAS RET
20 reproductive system MP:0005389 9.65 CDC73 CDKN1A CDKN1B CDKN2B CDKN2C CHGA
21 respiratory system MP:0005388 9.23 CDC73 CDKN1A CDKN1B CDKN2C GNAS JUND
Sources

Drugs & Therapeutics for Multiple Endocrine Neoplasia, Type I

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

(show all 50)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexlansoprazole Approved, Investigational Phase 4 138530-94-6, 103577-45-3 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 51110-01-1, 38916-34-6 53481605
8 Hormones Phase 3
9 Hormone Antagonists Phase 3
10 Barley Approved Phase 2
11
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
12
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
13
Lenvatinib Approved, Investigational Phase 2 417716-92-8
14
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030
15
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
16
Pertuzumab Approved Phase 2 380610-27-5, 145040-37-5 2540
17 Anti-Inflammatory Agents Phase 2
18 Nutrients Phase 2
19 Mitogens Phase 2
20 Endothelial Growth Factors Phase 2
21 Antineoplastic Agents, Hormonal Phase 2
22 Immunosuppressive Agents Phase 2
23 Immunologic Factors Phase 2
24 Protein Kinase Inhibitors Phase 2
25 Antineoplastic Agents, Immunological Phase 2
26
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
27 Immunoglobulins Phase 1
28 gamma-Globulins Phase 1
29 Immunoglobulins, Intravenous Phase 1
30 Antibodies Phase 1
31 Rho(D) Immune Globulin Phase 1
32
Morphine Approved, Investigational 57-27-2 5288826
33
Histamine Approved, Investigational 51-45-6, 75614-87-8 774
34
Vancomycin Approved 1404-90-6 441141 14969
35
Ethanol Approved 64-17-5 702
36
Salmon calcitonin Approved, Investigational 47931-85-1 16129616
37
Pancrelipase Approved, Investigational 53608-75-6
38
Parathyroid hormone Approved, Investigational 9002-64-6
39
Formaldehyde Approved, Vet_approved 50-00-0 712
40
Phenylalanine Approved, Investigational, Nutraceutical Early Phase 1 63-91-2 6140
41
Calcitonin gene-related peptide Investigational 83652-28-2
42 Radiopharmaceuticals Early Phase 1
43 Edotreotide Early Phase 1
44 Dihydroxyphenylalanine
45
Histamine Phosphate 51-74-1 65513
46 Calcium, Dietary
47 calcitonin
48 Katacalcin
49 pancreatin
50
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show all 35)
# 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 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
4 Perfusion CT as Predictive Biomarker in a Phase II Study of Ziv-Aflibercept in Patients With Advanced Pancreatic Neuroendocrine Tumors Completed NCT02101918 Phase 2
5 A Phase 2 Study of GW786034 (Pazopanib) in Advanced Low-Grade or Intermediate-Grade Neuroendocrine Carcinoma Completed NCT00454363 Phase 2 Pazopanib Hydrochloride
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 A Phase II, Open-Label Study To Assess The Efficacy and Tolerability of ZD6474 (ZACTIMAâ„¢ ) 100 mg Monotherapy In Subjects With Locally Advanced or Metastatic Hereditary Medullary Thyroid Cancer Completed NCT00358956 Phase 2 ZD6474 (vandetanib)
8 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
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 Type 1 Multiple Endocrine Neoplasia : a Cohort Study of the Endocrine Tumor Study Group (GTE) Unknown status NCT03262129
15 A Pilot Study to Investigate Germ-Line MEN1 and SDHD Gene Mutation in Familial Cases of Carcinoid Cancer Unknown status NCT00672269
16 An Expanded Access Imaging of Neuroendocrine Tumors Using 68Ga-DOTA-TOC Completed NCT03001349 Early Phase 1 Gallium Ga 68-Edotreotide
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 Studies of Hyperparathyroidism and Related Disorders Completed NCT00001277 68Ga-Dotatate;18F-DOPA
21 Genetic Polymorphisms Associated With Histamine Disposition in Children With Vancomycin Associated Red Man Syndrome (RMS) Completed NCT00824122
22 Reversal of Atrial Substrate to Prevent Atrial Fibrillation - A Pilot Study Completed NCT03186976
23 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
24 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
25 Study and Follow-up of Multiple Endocrine Neoplasia Type 1 Recruiting NCT03348501
26 Metabolomics and Genetic Diagnosing Pancreatic Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1 Patients Recruiting NCT03048266
27 Registry for Multiple Endocrine Neoplasia Syndromes: MEN1/MEN2 Recruiting NCT03048279
28 Family Studies in Metabolic Diseases and Mineral Metabolism Recruiting NCT00001345
29 Variables That Are Correlated to Developing Multiple Endocrine Neoplasia (MEN) and Pancreatic Neuroendocrine Tumors (PNET) Recruiting NCT03053999
30 Establishment of a Parathyroid Tissue Bank Recruiting NCT03051126
31 Reversal of Atrial Substrate to Prevent Atrial Fibrillation Recruiting NCT03682991
32 Overall and Disease Specific Survival in Patients With Confirmed MEN1 With or Without PNET (Pancreatic Neuroendocrine Tumors) Active, not recruiting NCT03043508
33 Study and Monitoring of Multiple Endocrine Neoplasia Type 1 Not yet recruiting NCT03966612
34 The Registry of Oncology Outcomes Associated With Testing and Treatment (ROOT) Not yet recruiting NCT04028479 Systemic Treatment (T)
35 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

Sources

Genetic Tests for Multiple Endocrine Neoplasia, Type I

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Genetic tests related to Multiple Endocrine Neoplasia, Type I:

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

Anatomical Context for Multiple Endocrine Neoplasia, Type I

About this section

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

40
Pituitary, Pancreas, Thyroid, Spinal Cord, Pancreatic Islet, Bone, Lung
Sources

Publications for Multiple Endocrine Neoplasia, Type I

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Articles related to Multiple Endocrine Neoplasia, Type I:

(show top 50) (show all 2312)
# 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. 61 6 57 25
12112656 2002
2
Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1. 61 25 6 57
12050235 2002
3
Molecular and genetic mechanisms of tumorigenesis in multiple endocrine neoplasia type-1. 61 25 57 6
11579199 2001
4
Characterization of mutations in patients with multiple endocrine neoplasia type 1. 25 61 57 6
9463336 1998
5
Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism. 54 61 6 57
9709921 1998
6
Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states. 57 6 54 61
9215689 1997
7
Effect of multiple endocrine neoplasia type 1 (MEN1) gene mutations on premature mortality in familial MEN1 syndrome with founder mutations. 57 6 61
15240620 2004
8
A novel six-nucleotide insertion in exon 4 of the MEN1 gene, 878insCTGCAG, in three patients with familial insulinoma and primary hyperparathyroidism. 61 57 6
12417605 2002
9
Common ancestral mutation in the MEN1 gene is likely responsible for the prolactinoma variant of MEN1 (MEN1Burin) in four kindreds from Newfoundland. 61 6 57
9554741 1998
10
Positional cloning of the gene for multiple endocrine neoplasia-type 1. 57 6 61
9103196 1997
11
Variant multiple endocrine neoplasia I (MEN IBurin): further studies and non-linkage to HLA. 61 57 6
2857681 1985
12
Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene. 61 25 57
17879353 2008
13
Detection of an MEN1 gene mutation depends on clinical features and supports current referral criteria for diagnostic molecular genetic testing. 25 6 61
15670192 2005
14
Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory. 6 25 61
15714081 2005
15
Multiple endocrine neoplasia type 1 variant with frequent prolactinoma and rare gastrinoma. 61 25 57
15292304 2004
16
Genotype-phenotype analysis in multiple endocrine neoplasia type 1. 61 6 25
12049533 2002
17
Pituitary macroadenoma in a 5-year-old: an early expression of multiple endocrine neoplasia type 1. 61 25 6
11134142 2000
18
Novel V184E MEN1 germline mutation in a Japanese kindred with familial hyperparathyroidism. 6 57
9843042 1998
19
Somatic mutation of the MEN1 gene in parathyroid tumours. 25 57 61
9241276 1997
20
Multiple facial angiofibromas and collagenomas in patients with multiple endocrine neoplasia type 1. 57 25 61
9236523 1997
21
Prolactinomas in familial multiple endocrine neoplasia syndrome type I. Relationship to HLA and carcinoid tumors. 57 6
6108714 1980
22
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. 25 57
15531478 2004
23
Hypermutability in a Drosophila model for multiple endocrine neoplasia type 1. 61 54 57
15333582 2004
24
Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. 25 57
14985373 2004
25
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
26
Pituitary disease in MEN type 1 (MEN1): data from the France-Belgium MEN1 multicenter study. 25 57
11836268 2002
27
Guidelines for diagnosis and therapy of MEN type 1 and type 2. 57 25
11739416 2001
28
Menin, the product of the MEN1 gene, is a nuclear protein. 61 57 54
9465067 1998
29
A transcript map for the 2.8-Mb region containing the multiple endocrine neoplasia type 1 locus. 57 54 61
9253601 1997
30
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). 6 61
22275377 2012
31
Parathyroid carcinoma in multiple endocrine neoplasia type 1 with a classic germline mutation. 54 61 25
19491073 2009
32
Familial pituitary adenomas. 61 54 25
19522822 2009
33
Gonadotroph adenoma in multiple endocrine neoplasia type 1. 25 61 54
18753103 2008
34
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. 57 61
17179192 2007
35
A whole MEN1 gene deletion flanked by Alu repeats in a family with multiple endocrine neoplasia type 1. 61 54 25
17000701 2006
36
Thymic carcinoid in multiple endocrine neoplasia 1: genotype-phenotype correlation and prevention. 54 25 61
16594911 2006
37
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
38
Homozygous loss of menin is well tolerated in liver, a tissue not affected in MEN1. 61 57
15672591 2004
39
Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome. 57 61
14715834 2004
40
Germline mutations of the MEN1 gene in Korean families with multiple endocrine neoplasia type 1 (MEN1) or MEN1-related disorders. 61 57
12791038 2003
41
Efficient mutation detection in MEN1 gene using a combination of single-strand conformation polymorphism (MDGA) and heteroduplex analysis. 61 6
12652570 2003
42
Familial isolated primary hyperparathyroidism--a multiple endocrine neoplasia type 1 variant? 61 54 25
11454510 2001
43
The antral mucosa as a new site for endocrine tumors in multiple endocrine neoplasia type 1 and Zollinger-Ellison syndromes. 61 57
11344233 2001
44
Multiple endocrine neoplasia type 1: new clinical and basic findings. 61 57
11295574 2001
45
Multiple allelic deletions and intratumoral genetic heterogeneity in men1 pancreatic tumors. 61 57
11238532 2001
46
A mouse model of multiple endocrine neoplasia, type 1, develops multiple endocrine tumors. 61 57
11158604 2001
47
Rare somatic inactivation of the multiple endocrine neoplasia type 1 gene in secondary hyperparathyroidism of uremia. 61 57
11095441 2000
48
Clinical features of multiple endocrine neoplasia type 1 (MEN1) phenocopy without germline MEN1 gene mutations: analysis of 20 Japanese sporadic cases with MEN1. 61 6
10762295 2000
49
Screening for MEN1 mutations in patients with atypical endocrine neoplasia. 61 6
10598193 1999
50
Genetic and clinical analysis in 10 Spanish patients with multiple endocrine neoplasia type 1. 61 57
10439966 1999
Sources

Variations for Multiple Endocrine Neoplasia, Type I

About this section

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

6 (show top 50) (show all 837)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MEN1 NM_000244.3(MEN1):c.608G>A (p.Trp203Ter) SNV Pathogenic 16682 rs104894258 11:64575424-64575424 11:64807952-64807952
2 MEN1 NM_000244.3(MEN1):c.1322G>A (p.Trp441Ter) SNV Pathogenic 16687 rs104894260 11:64572549-64572549 11:64805077-64805077
3 MEN1 NM_000244.3(MEN1):c.778G>A (p.Glu260Lys) SNV Pathogenic 16696 rs104894268 11:64575044-64575044 11:64807572-64807572
4 MEN1 NM_000244.3(MEN1):c.566T>A (p.Val189Glu) SNV Pathogenic 16697 rs104894262 11:64575466-64575466 11:64807994-64807994
5 MEN1 NM_000244.3(MEN1):c.1077C>A (p.Cys359Ter) SNV Pathogenic 16705 rs104894265 11:64573230-64573230 11:64805758-64805758
6 MEN1 NM_000244.3(MEN1):c.839+1G>A SNV Pathogenic 16710 rs1060499976 11:64574650-64574650 11:64807178-64807178
7 MEN1 NM_000244.3(MEN1):c.669+1G>A SNV Pathogenic 39763 rs794728622 11:64575362-64575362 11:64807890-64807890
8 MEN1 NM_000244.3(MEN1):c.323del (p.Arg108fs) Deletion Pathogenic 241811 rs878855191 11:64577259-64577259 11:64809787-64809787
9 MEN1 NM_000244.3(MEN1):c.358A>T (p.Lys120Ter) SNV Pathogenic 241812 rs878855192 11:64577224-64577224 11:64809752-64809752
10 MEN1 NM_000244.3(MEN1):c.648del (p.Asn217fs) Deletion Pathogenic 241818 rs878855196 11:64575384-64575384 11:64807912-64807912
11 MEN1 NM_000244.3(MEN1):c.518T>C (p.Leu173Pro) SNV Pathogenic 36532 rs386134256 11:64575514-64575514 11:64808042-64808042
12 MEN1 NM_000244.3(MEN1):c.168del (p.Asn57fs) Deletion Pathogenic 403837 rs1060499990 11:64577414-64577414 11:64809942-64809942
13 MEN1 NM_000244.3(MEN1):c.839+1G>T SNV Pathogenic 403810 rs1060499976 11:64574650-64574650 11:64807178-64807178
14 MEN1 NM_000244.3(MEN1):c.346G>T (p.Glu116Ter) SNV Pathogenic 403842 rs1060499992 11:64577236-64577236 11:64809764-64809764
15 MEN1 NM_000244.3(MEN1):c.318T>A (p.Tyr106Ter) SNV Pathogenic 403833 rs1060499987 11:64577264-64577264 11:64809792-64809792
16 MEN1 NM_000244.3(MEN1):c.1189G>T (p.Glu397Ter) SNV Pathogenic 403811 rs772588551 11:64573118-64573118 11:64805646-64805646
17 MEN1 NM_130799.2(MEN1):c.1024delG (p.Ala342Argfs) Deletion Pathogenic 16684 rs1555164986 11:64573729-64573729 11:64806257-64806257
18 MEN1 NM_000244.3(MEN1):c.1390_1397del (p.Ser464fs) Deletion Pathogenic 457290 rs1555163883 11:64572257-64572264 11:64804785-64804792
19 MEN1 NM_000244.3(MEN1):c.317_318del (p.Tyr106fs) Deletion Pathogenic 457321 rs1555166466 11:64577264-64577265 11:64809792-64809793
20 MEN1 NM_000244.3(MEN1):c.1550C>G (p.Ser517Ter) SNV Pathogenic 457305 rs141679530 11:64572104-64572104 11:64804632-64804632
21 MEN1 NM_000244.3(MEN1):c.378G>A (p.Trp126Ter) SNV Pathogenic 527240 rs1555166365 11:64577204-64577204 11:64809732-64809732
22 MEN1 NM_000244.3(MEN1):c.1365+1_1365+11del Deletion Pathogenic 201001 rs764570645 11:64572495-64572505 11:64805023-64805033
23 MEN1 NM_000244.3(MEN1):c.231C>G (p.Tyr77Ter) SNV Pathogenic 527270 rs1555166567 11:64577351-64577351 11:64809879-64809879
24 MEN1 NM_000244.3(MEN1):c.787C>T (p.Gln263Ter) SNV Pathogenic 265237 rs886039416 11:64575035-64575035 11:64807563-64807563
25 MEN1 NM_000244.3(MEN1):c.674G>A (p.Trp225Ter) SNV Pathogenic 574621 rs1565647197 11:64575148-64575148 11:64807676-64807676
26 MEN1 NM_000244.3(MEN1):c.638_1065-143del Deletion Pathogenic 664768 11:64573385-64575394 11:64805913-64807922
27 MEN1 NC_000011.10:g.(?_64809655)_(64810716_?)del Deletion Pathogenic 833351 11:64577127-64578188
28 MEN1 NM_001370259.2(MEN1):c.1202del (p.Gly401fs) Deletion Pathogenic 836644 11:64572654-64572654 11:64805182-64805182
29 MEN1 NC_000011.10:g.(?_64804334)_(64810716_?)del Deletion Pathogenic 832847 11:64571806-64578188
30 MEN1 NM_001370259.2(MEN1):c.1A>C (p.Met1Leu) SNV Pathogenic 850884 11:64577581-64577581 11:64810109-64810109
31 MEN1 NM_001370259.2(MEN1):c.639del (p.Gly214fs) Deletion Pathogenic 852102 11:64575378-64575378 11:64807906-64807906
32 MEN1 NM_001370259.2(MEN1):c.1672_1679del (p.Met558fs) Deletion Pathogenic 859580 11:64571960-64571967 11:64804488-64804495
33 MEN1 NM_000244.3(MEN1):c.955_1065-227del Deletion Pathogenic 457345 11:64573469-64573813 11:64805997-64806341
34 MEN1 NM_000244.3(MEN1):c.510C>A (p.Cys170Ter) SNV Pathogenic 640227 rs1592651767 11:64575522-64575522 11:64808050-64808050
35 MEN1 NM_000244.3(MEN1):c.134A>G (p.Glu45Gly) SNV Pathogenic 643100 rs1592660101 11:64577448-64577448 11:64809976-64809976
36 MEN1 NM_000244.3(MEN1):c.1065-2A>G SNV Pathogenic 646754 rs1565642765 11:64573244-64573244 11:64805772-64805772
37 MEN1 NM_000244.3(MEN1):c.1235_1236del (p.Pro412fs) Deletion Pathogenic 651589 rs1592637440 11:64572635-64572636 11:64805163-64805164
38 MEN1 NM_000244.3(MEN1):c.1415_1428del (p.Ala472fs) Deletion Pathogenic 657179 rs1592633463 11:64572226-64572239 11:64804754-64804767
39 MEN1 NM_000244.3(MEN1):c.461-1G>C SNV Pathogenic 662500 rs1064793672 11:64575572-64575572 11:64808100-64808100
40 MEN1 NM_000244.3(MEN1):c.839G>A (p.Arg280Lys) SNV Pathogenic 662978 rs1187634059 11:64574651-64574651 11:64807179-64807179
41 MEN1 NM_000244.3(MEN1):c.1268_1271del (p.Asp423fs) Deletion Pathogenic 663669 rs1592637081 11:64572600-64572603 11:64805128-64805131
42 MEN1 NM_000244.3(MEN1):c.1234_1235del (p.Asp411_Pro412insTer) Deletion Pathogenic 649025 rs1592637455 11:64572636-64572637 11:64805164-64805165
43 MEN1 NM_000244.3(MEN1):c.1366-1G>A SNV Pathogenic 241801 rs794728629 11:64572289-64572289 11:64804817-64804817
44 MEN1 NM_000244.3(MEN1):c.754_760del (p.Ile252fs) Deletion Pathogenic 457337 rs1555165503 11:64575062-64575068 11:64807590-64807596
45 MEN1 NM_000244.3(MEN1):c.578_579del (p.Pro193fs) Deletion Pathogenic 457327 rs1555165756 11:64575453-64575454 11:64807981-64807982
46 MEN1 NM_000244.3(MEN1):c.1366-1G>C SNV Pathogenic 200985 rs794728629 11:64572289-64572289 11:64804817-64804817
47 MEN1 NM_000244.3(MEN1):c.984C>G (p.Tyr328Ter) SNV Pathogenic 449058 rs750904332 11:64573784-64573784 11:64806312-64806312
48 MEN1 NM_000244.3(MEN1):c.1064+1G>A SNV Pathogenic 527268 rs1114167489 11:64573703-64573703 11:64806231-64806231
49 MEN1 NM_000244.3(MEN1):c.796C>T (p.Gln266Ter) SNV Pathogenic 379789 rs1057520733 11:64575026-64575026 11:64807554-64807554
50 MEN1 NM_000244.3(MEN1):c.421C>T (p.Gln141Ter) SNV Pathogenic 265450 rs886039553 11:64577161-64577161 11:64809689-64809689

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
Sources

Expression for Multiple Endocrine Neoplasia, Type I

About this section
Search GEO for disease gene expression data for Multiple Endocrine Neoplasia, Type I.
Sources

Pathways for Multiple Endocrine Neoplasia, Type I

About this section

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

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Signaling by GPCR 65
Show member pathways
 14.03 SST SCT RET PRKAR1A PLCB3 MEN1
2
DAG and IP3 signaling 65
Show member pathways
 12.78 PYGM PRKAR1A PLCB3 GNAS CDKN2B CDKN1B
3
Pathways in cancer 36
12.64 RET PLCB3 GNAS CDKN2B CDKN1B CDKN1A
4
DNA Damage 4
12.37 CDKN2C CDKN1B CDKN1A CDC73
5
Aldosterone synthesis and secretion 36
Show member pathways
 12.27 PLCB3 MEN1 GNAS CDKN2C CDKN2B CDKN1B
6
Cyclins and Cell Cycle Regulation 63
Show member pathways
 12.23 CDKN2C CDKN2B CDKN1B CDKN1A
7
Glioma 36
Show member pathways
 12.23 RET GNAS CDKN2C CDKN2B CDKN1B CDKN1A
8
Salivary secretion 36
Show member pathways
 12.2 SST SCT PLCB3 GNAS GAST
9
Transcriptional misregulation in cancer 36
12.13 MEN1 CDKN2C CDKN1B CDKN1A
10
Cell cycle 36 1
12.01 MEN1 CDKN2C CDKN2B CDKN1B CDKN1A
11
Small cell lung cancer 36
11.73 CDKN2B CDKN1B CDKN1A
12
Visual Cycle in Retinal Rods 63
11.68 PLCB3 GNAS CDKN1B CDKN1A
13
E2F transcription factor network 1
11.62 CDKN2C CDKN1B CDKN1A
14
Validated targets of C-MYC transcriptional repression 1
11.53 CDKN2B CDKN1B CDKN1A
16
Aryl Hydrocarbon Receptor 1
11.37 RET CDKN1B CDKN1A
17
Integrated Cancer Pathway 1
11.33 CDKN2B CDKN1B CDKN1A
18
Proton Pump Inhibitor Pathway, Pharmacodynamics 60
11.31 PLCB3 GNAS CASR
19
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 23
11.22 PRKAR1A PLCB3 GNAS
20
Parathyroid hormone synthesis, secretion and action 36
11.05 PLCB3 JUND GNAS CDKN1A CASR
21
Gastric acid production 1
10.4 SCT GAST
Sources

GO Terms for Multiple Endocrine Neoplasia, Type I

About this section

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 response to drug GO:0042493 9.83 SST RET GNAS CDKN1B CDKN1A
3 response to organic cyclic compound GO:0014070 9.78 JUND CDKN1B CDKN1A CASR
4 cell cycle arrest GO:0007050 9.76 CDKN2C CDKN2B CDKN1B CDKN1A
5 G1/S transition of mitotic cell cycle GO:0000082 9.71 CDKN2C CDKN1B CDKN1A
6 negative regulation of cell proliferation GO:0008285 9.7 SST MEN1 CDKN2C CDKN2B CDKN1B CDKN1A
7 negative regulation of epithelial cell proliferation GO:0050680 9.67 MEN1 CDKN2B CDKN1B CDC73
8 negative regulation of G1/S transition of mitotic cell cycle GO:2000134 9.62 CDKN2C CDKN2B CDKN1A CDC73
9 regulation of cyclin-dependent protein serine/threonine kinase activity GO:0000079 9.56 CDKN2C CDKN2B CDKN1B CDKN1A
10 cellular response to extracellular stimulus GO:0031668 9.55 CDKN2B CDKN1A
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 9.4 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 binding GO:0005515 10.23 SYP SST SF1 SDHD SCT RET
2 protein kinase binding GO:0019901 9.55 CDKN2C CDKN2B CDKN1B CDKN1A CASR
3 kinase activity GO:0016301 9.43 RET PRKAR1A CDKN2C CDKN2B CDKN1B CDKN1A
4 cyclin-dependent protein serine/threonine kinase inhibitor activity GO:0004861 8.92 CDKN2C CDKN2B CDKN1B CDKN1A
Sources

Sources for Multiple Endocrine Neoplasia, Type I

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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