MEN1
MCID: MLT136
MIFTS: 69

Multiple Endocrine Neoplasia 1 (MEN1) malady

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

Aliases & Classifications for Multiple Endocrine Neoplasia 1

Aliases & Descriptions for Multiple Endocrine Neoplasia 1:

Name: Multiple Endocrine Neoplasia 1 54 13
Multiple Endocrine Neoplasia Type 1 12 23 50 24 56 29 52 42 14 69
Wermer Syndrome 12 23 50 24 56
Men1 23 50 24 56 66
Multiple Endocrine Adenomatosis 23 24
Men1 Syndrome 23 24
Men 1 50 24
Familial Multiple Endocrine Neoplasia Type I 66
Multiple Endocrine Neoplasia, Type I 54
Endocrine Adenomatosis Multiple 50
Multiple Endocrine Neoplasia 69
Wermer's Syndrome 12
Men Type I 12

Characteristics:

Orphanet epidemiological data:

56
multiple endocrine neoplasia type 1
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: adult;

GeneReviews:

23
multiple endocrine neoplasia 1:
Inheritance autosomal dominant inheritance


GeneReviews:

23
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:



External Ids:

OMIM 54 131100
Disease Ontology 12 DOID:10017
ICD10 33 E31.21
ICD9CM 35 258.01
MeSH 42 D018761
NCIt 47 C3225
SNOMED-CT 64 190566000 30664006
Orphanet 56 ORPHA652
MESH via Orphanet 43 D018761
UMLS via Orphanet 70 C0025267
ICD10 via Orphanet 34 D44.8
UMLS 69 C0025267

Summaries for Multiple Endocrine Neoplasia 1

OMIM : 54 Multiple endocrine neoplasia type I (MEN1) is an autosomal dominant disorder characterized by varying combinations of... (131100) more...

MalaCards based summary : Multiple Endocrine Neoplasia 1, also known as multiple endocrine neoplasia type 1, is related to zollinger-ellison syndrome and insulinoma, and has symptoms including diarrhea, hyperparathyroidism and extrahepatic cholestasis. An important gene associated with Multiple Endocrine Neoplasia 1 is MEN1 (Menin 1), and among its related pathways/superpathways are Signaling by GPCR and DAG and IP3 signaling. The drugs Zinc and Progesterone have been mentioned in the context of this disorder. Affiliated tissues include pituitary, pancreas and thyroid, and related phenotypes are Decreased viability and homeostasis/metabolism

Disease Ontology : 12 An autosomal dominant disease 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.

NIH Rare Diseases : 50 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. last updated: 11/26/2014

UniProtKB/Swiss-Prot : 66 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 : 71 Multiple endocrine neoplasia type 1 (MEN-1 syndrome) or Wermer\'s syndrome is part of a group of... more...

GeneReviews: NBK1538

Related Diseases for Multiple Endocrine Neoplasia 1

Diseases in the Multiple Endocrine Neoplasia family:

Multiple Endocrine Neoplasia Iia Multiple Endocrine Neoplasia Iib
Multiple Endocrine Neoplasia 1 Multiple Endocrine Neoplasia, Type Iv

Diseases related to Multiple Endocrine Neoplasia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 104)
id Related Disease Score Top Affiliating Genes
1 zollinger-ellison syndrome 29.8 CHGA RET SDHB SDHD
2 insulinoma 11.4
3 pituitary adenoma, growth hormone-secreting 11.1
4 pituitary adenoma, prolactin-secreting 11.1
5 restless legs syndrome 7 10.3 CDC73 MEN1
6 multiple endocrine neoplasia 10.3
7 macular holes 10.3 MEN1 PTH
8 post-vaccinal encephalitis 10.3 GAST SCT
9 tabes dorsalis 10.3 MEN1 SCT SST
10 early-onset parkinson disease 10.3 MEN1 RET SST
11 gmppa-cdg 10.3 CHGA SCT SST
12 oculocutaneous albinism 10.3 CDKN1A CHGA SST
13 cardioauditory syndrome of sanchez cascos 10.3 CHGA MEN1 SST
14 adult ependymoblastoma 10.3 CHGA MEN1 PTH
15 pulmonary neuroendocrine tumor 10.3 MEN1 PRL SST
16 cone-rod dystrophy 5 10.2 CDKN1B GNAS MEN1 PRKAR1A
17 paranasal sinus cancer, adult 10.2 GAST MEN1 SST
18 autoimmune pancreatitis 10.2 CHGA GAST
19 grin2a-related speech disorders and epilepsy 10.2 GNAS PRL
20 breast malignant eccrine spiradenoma 10.2 GAST MEN1 SCT
21 papillary adenoma 10.2 MEN1 PRKAR1A SDHB
22 pituitary adenoma, acth-secreting 10.2 GNAS PRL SST
23 uterine ligament cancer 10.2 GNAS MEN1 PRKAR1A SST
24 pseudohypoparathyroidism, type ib 10.2 GNAS PRKAR1A PTH
25 merkel cell carcinoma 10.2 PRKAR1A PRL SST
26 esophagus squamous cell papilloma 10.2 PRKAR1A PRL SST
27 hyperparathyroidism, familial primary 10.2 CASR CDC73 MEN1 RET
28 familial chronic myelocytic leukemia-like syndrome 10.2 CASR CDC73 PTH
29 secondary syphilis 10.2 CHGA GAST SST
30 brain edema 10.2 CHGA GAST SST
31 jessner's lymphocytic infiltration of the skin 10.2 CASR PRKAR1A
32 ischemic heart disease 10.2 CHGA MEN1 SCT SST
33 tricuspid valve stenosis 10.2 GAST SCT SST
34 peeling skin syndrome 10.2 CHGA GNAS PRKAR1A
35 urethra clear cell adenocarcinoma 10.2 MEN1 PRL SST
36 volkmann contracture 10.2 CHGA GAST SST
37 osseous heteroplasia, progressive 10.2 GNAS MEN1 PRKAR1A PRL
38 mesenchymal cell neoplasm 10.2 CASR GNAS PTH
39 catastrophic antiphospholipid syndrome 10.2 RET SDHB SDHD
40 glomangioma 10.2 CDKN2B SDHB SDHD
41 adrenal cortical adenocarcinoma 10.2 PRKAR1A PRL SST
42 mitochondrial complex ii deficiency 10.2 CHGA MEN1 SDHD SST
43 infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations 10.2 GNAS PRL SST
44 acrocapitofemoral dysplasia 10.2 RET SDHB SDHD
45 bone ameloblastoma 10.2 RET SDHB SDHD
46 orofaciodigital syndrome iv 10.2 CDKN2B CDKN2C MEN1 SST
47 intravenous leiomyomatosis 10.2 RET SDHB SDHD
48 rheumatic encephalitis 10.2 GNAS MEN1 PRL SST
49 endocervical adenocarcinoma 10.2 RET SDHB SDHD
50 epidermolysis bullosa, junctional, herlitz type 10.2 CASR CDC73 MEN1 PTH

Graphical network of the top 20 diseases related to Multiple Endocrine Neoplasia 1:



Diseases related to Multiple Endocrine Neoplasia 1

Symptoms & Phenotypes for Multiple Endocrine Neoplasia 1

Symptoms by clinical synopsis from OMIM:

131100

Clinical features from OMIM:

131100

Human phenotypes related to Multiple Endocrine Neoplasia 1:

56 32 (show all 42)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diarrhea 56 32 Frequent (79-30%) HP:0002014
2 hyperparathyroidism 56 32 Very frequent (99-80%) HP:0000843
3 extrahepatic cholestasis 56 32 Occasional (29-5%) HP:0012334
4 glucagonoma 56 32 Occasional (29-5%) HP:0030404
5 increased glucagon level 56 32 Occasional (29-5%) HP:0030688
6 carcinoid tumor 56 32 Occasional (29-5%) HP:0100570
7 adrenocortical carcinoma 56 32 Very rare (<4-1%) HP:0006744
8 parathyroid adenoma 56 32 Very frequent (99-80%) HP:0002897
9 hypercalcemia 56 32 Very frequent (99-80%) HP:0003072
10 elevated circulating parathyroid hormone level 56 32 Very frequent (99-80%) HP:0003165
11 parathyroid hyperplasia 56 32 Very frequent (99-80%) HP:0008208
12 hyperinsulinemic hypoglycemia 56 32 Frequent (79-30%) HP:0000825
13 growth hormone excess 56 32 Frequent (79-30%) HP:0000845
14 thyroid adenoma 56 32 Frequent (79-30%) HP:0000854
15 subcutaneous lipoma 56 32 Frequent (79-30%) HP:0001031
16 zollinger-ellison syndrome 56 32 Frequent (79-30%) HP:0002044
17 episodic abdominal pain 56 32 Frequent (79-30%) HP:0002574
18 pituitary adenoma 56 32 Frequent (79-30%) HP:0002893
19 peptic ulcer 56 32 Frequent (79-30%) HP:0004398
20 pituitary prolactin cell adenoma 56 32 Frequent (79-30%) HP:0006767
21 adrenocortical adenoma 56 32 Frequent (79-30%) HP:0008256
22 fasting hyperinsulinemia 56 32 Frequent (79-30%) HP:0008283
23 angiofibromas 56 32 Frequent (79-30%) HP:0010615
24 pituitary growth hormone cell adenoma 56 32 Frequent (79-30%) HP:0011760
25 pituitary null cell adenoma 56 32 Frequent (79-30%) HP:0011761
26 insulinoma 56 32 Frequent (79-30%) HP:0012197
27 esophagitis 56 32 Frequent (79-30%) HP:0100633
28 confetti-like hypopigmented macules 56 32 Occasional (29-5%) HP:0007449
29 pituitary corticotropic cell adenoma 56 32 Occasional (29-5%) HP:0008291
30 erythema 56 32 Occasional (29-5%) HP:0010783
31 increased urinary cortisol level 56 32 Occasional (29-5%) HP:0012030
32 thymoma 56 32 Very rare (<4-1%) HP:0100522
33 hypoglycemia 32 HP:0001943
34 multiple lipomas 56 Frequent (79-30%)
35 abnormality of the endocrine system 56 Very frequent (99-80%)
36 neuroendocrine neoplasm 56 Frequent (79-30%)
37 abnormality of pancreas physiology 56 Very frequent (99-80%)
38 hypercortisolism 56 Occasional (29-5%)
39 abnormality of the thyroid gland 32 HP:0000820
40 adenoma sebaceum 32 HP:0009720
41 increased circulating cortisol level 32 HP:0003118
42 cafe-au-lait spot 32 HP:0000957

UMLS symptoms related to Multiple Endocrine Neoplasia 1:


diarrhea

GenomeRNAi Phenotypes related to Multiple Endocrine Neoplasia 1 according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.55 PRKAR1A RET SDHD CDKN1B CDKN2C
2 Decreased viability GR00221-A-2 9.55 PRKAR1A RET SDHD
3 Decreased viability GR00221-A-3 9.55 PRKAR1A
4 Decreased viability GR00221-A-4 9.55 PRKAR1A RET SDHD
5 Decreased viability GR00231-A 9.55 RET
6 Decreased viability GR00301-A 9.55 CDKN2C RET
7 Decreased viability GR00342-S-2 9.55 CDKN2C
8 Decreased viability GR00381-A-1 9.55 SDHD

MGI Mouse Phenotypes related to Multiple Endocrine Neoplasia 1:

44 (show all 18)
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.45 CDKN1B CDKN2B CDKN2C CHGA GAST GNAS
2 endocrine/exocrine gland MP:0005379 10.44 CDKN1A CDKN1B CDKN2B CDKN2C CHGA GAST
3 behavior/neurological MP:0005386 10.39 CASR CDC73 CDKN1A CDKN1B CDKN2C GNAS
4 cardiovascular system MP:0005385 10.35 CDC73 CDKN1A CDKN1B CDKN2C CHGA GNAS
5 immune system MP:0005387 10.35 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
6 growth/size/body region MP:0005378 10.34 CASR CDC73 CDKN1A CDKN1B CDKN2C CHGA
7 mortality/aging MP:0010768 10.33 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
8 cellular MP:0005384 10.3 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
9 hematopoietic system MP:0005397 10.25 CASR CDC73 CDKN1A CDKN1B CDKN2B PTH
10 digestive/alimentary MP:0005381 10.2 CDKN1B GAST MEN1 PRKAR1A RET SST
11 integument MP:0010771 10.11 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
12 neoplasm MP:0002006 10.1 CDKN1A CDKN1B CDKN2B CDKN2C GAST GNAS
13 muscle MP:0005369 10.02 CASR CDC73 CDKN1A CDKN1B GNAS MEN1
14 liver/biliary system MP:0005370 9.98 CDC73 CDKN1A CDKN1B GNAS MEN1 PRKAR1A
15 renal/urinary system MP:0005367 9.85 RET CASR CDC73 CDKN1A CDKN1B CDKN2B
16 no phenotypic analysis MP:0003012 9.8 CDKN1A CDKN1B CDKN2B GNAS RET SDHB
17 reproductive system MP:0005389 9.65 CDC73 CDKN1A CDKN1B CDKN2B CDKN2C CHGA
18 respiratory system MP:0005388 9.17 CDKN1B CDKN2C GNAS PRKAR1A RET CDC73

Drugs & Therapeutics for Multiple Endocrine Neoplasia 1

Drugs for Multiple Endocrine Neoplasia 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 527)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved Phase 4,Phase 3,Early Phase 1 7440-66-6 32051 23994
2
Progesterone Approved, Vet_approved Phase 4,Phase 3,Phase 2 57-83-0 5994
3
Epinephrine Approved, Vet_approved Phase 4,Phase 2,Phase 1 51-43-4 5816
4
Metformin Approved Phase 4,Phase 3,Phase 2 657-24-9 14219 4091
5
Hydrocortisone Approved, Vet_approved Phase 4,Phase 1,Phase 2 50-23-7 5754 657311
6
Letrozole Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 112809-51-5 3902
7
Cortisone acetate Approved Phase 4 1950-04-4, 50-04-4 5745
8
Dopamine Approved Phase 4,Phase 3,Phase 2 51-61-6, 62-31-7 681
9
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 50-02-2 5743
10
Diazepam Approved, Illicit, Vet_approved Phase 4,Phase 1 439-14-5 3016
11
Simvastatin Approved Phase 4 79902-63-9 54454
12
Tacrolimus Approved, Investigational Phase 4,Phase 2 104987-11-3 445643 439492
13
Morphine Approved, Investigational Phase 4 57-27-2 5288826
14
Histamine Approved, Investigational Phase 4,Phase 1 75614-87-8, 51-45-6 774
15
Infliximab Approved Phase 4 170277-31-3
16
Cabergoline Approved Phase 4,Phase 3 81409-90-7 54746
17
Prednisolone Approved, Vet_approved Phase 4,Phase 2 50-24-8 5755
18
Leuprolide Approved, Investigational Phase 4 53714-56-0 3911 657181
19
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
20
Anastrozole Approved, Investigational Phase 4,Phase 3,Phase 2 120511-73-1 2187
21
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
22
Vancomycin Approved Phase 4 1404-90-6 441141 14969
23
Liraglutide Approved Phase 4,Phase 3 204656-20-2
24
Modafinil Approved, Investigational Phase 4 68693-11-8 4236
25
Hydroxocobalamin Approved Phase 4 13422-51-0 11953898 5460373 44475014
26
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2 83-43-2 6741
27
Insulin Glargine Approved Phase 4 160337-95-1
28
Olaparib Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 763113-22-0 23725625
29
Armodafinil Approved, Investigational Phase 4 112111-43-0
30
Menotropins Approved Phase 4,Phase 1,Phase 2 61489-71-2 5360545
31
Insulin Lispro Approved Phase 4 133107-64-9
32
Somatostatin Approved Phase 4,Phase 3 38916-34-6, 51110-01-1 53481605
33
Toremifene Approved, Investigational Phase 4 89778-26-7 3005573
34
Mycophenolic acid Approved Phase 4,Phase 2 24280-93-1 446541
35
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 2 128794-94-5 5281078
36
Basiliximab Approved, Investigational Phase 4,Phase 2 152923-56-3, 179045-86-4
37
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
38
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 59-30-3 6037
39
leucovorin Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 58-05-9 54575, 6560146 143
40
Manganese Approved, Nutraceutical Phase 4 7439-96-5 27854
41
Calcitriol Approved, Nutraceutical Phase 4 32222-06-3 134070 5280453
42
Cholecalciferol Approved, Nutraceutical Phase 4 67-97-0 6221 10883523 5280795
43
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 3 50-14-6 5280793
44
Cyanocobalamin Approved, Nutraceutical Phase 4 68-19-9 44176380
45
Enclomiphene Investigational Phase 4,Phase 3,Phase 1,Phase 2 15690-57-0
46
Butyric Acid Experimental Phase 4,Phase 1,Phase 2 107-92-6 264
47
Cortisone Phase 4 53-06-5 222786
48
Iodine Phase 4,Phase 2,Phase 1 7553-56-2 807
49 cadexomer iodine Phase 4,Phase 2,Phase 1
50 insulin Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1

Interventional clinical trials:

(show top 50) (show all 511)
id Name Status NCT ID Phase
1 Assessment Of Gh-Igf-1 Axis In Children With Chronic Myelogenous Leukemia (CML) In Remission Unknown status NCT01901666 Phase 4
2 rAd-p53 Gene Therapy for Advanced Malignant Thyroid Tumors Unknown status NCT00902122 Phase 4
3 Dual RElease Hydrocortisone Versus conventionAl Glucocorticoid replaceMent Therapy in Hypocortisolism (DREAM) Unknown status NCT02277587 Phase 4
4 Surgical Ovarian Drilling Versus Hormonal Treatment for Infertility Associated to PolyCystic Ovaries Syndrome (PCOS) Unknown status NCT00378729 Phase 4
5 Percutaneous Laser Ablation in Benign Thyroid Nodules.Long Term Results Completed NCT00858104 Phase 4
6 Glargine Versus NPH in Patients With Chronic Kidney Disease Completed NCT02451917 Phase 4
7 Cardiac Valve Complications in Prolactinomas Treated With Cabergoline Completed NCT00460616 Phase 4
8 Effects of Metformin Plus Simvastatin on Polycystic Ovarian Syndrome (PCOS): A Prospective, Randomized, Double-Blind, Placebo-Controlled Study Completed NCT01021579 Phase 4
9 Vancomycin Associated Red Man Syndrome (RMS) Completed NCT00824122 Phase 4
10 Comparing Covered Self-expandable Metallic Stent (SEMS) Above/Across the Sphincter of Oddi Completed NCT01041612 Phase 4
11 A Study of Infliximab for Treatment Resistant Major Depression Completed NCT00463580 Phase 4
12 Effect of 5 Years of GH Replacement on Atherosclerosis Completed NCT00462475 Phase 4
13 Antinociceptive Modalities on Ischemia Reperfusion Injury Completed NCT01932918 Phase 4
14 An Eight Week, Double-Blind Efficacy Study of Armodafinil Augmentation to Alleviate Fibromyalgia Fatigue Completed NCT00678691 Phase 4
15 A Phase 4 Study to Determine Dosing of Hectorol® Capsules When Converting From Zemplar® Injection Completed NCT00463021 Phase 4
16 Myo-inositol Versus D-chiro-inositol in the Treatment of Polycystic Ovary Syndrome and Insulin Resistance: Evaluation of Clinical, Metabolic, Endocrine and Ultrasound Parameters Completed NCT01514942 Phase 4
17 Study of Safety and Efficacy of Doxercalciferol in Patients With Chronic Kidney Disease, Stage 3 or 4, and Secondary Hyperparathyroidism Completed NCT00123461 Phase 4
18 The Effects of Vitamin D on Transforming Growth Factor-beta1 in Polycystic Ovary Syndrome Completed NCT02460380 Phase 4
19 Efficacy and Safety of 6 Months Treatment With Paricalcitol Injection or Oral in Patients With Secondary Hyperparathyroidism on Dialysis Completed NCT00537979 Phase 4
20 Menopur® Versus Follistim® in Polycystic Ovarian Syndrome (PCOS) Completed NCT00805935 Phase 4
21 Letrozole Versus Clomifene Citrate for Ovulation Induction Completed NCT00478504 Phase 4
22 Paricalcitol Versus Calcitriol for Efficacy and Safety in Stage 3/4 Chronic Kidney Disease (CKD) With Secondary Hyperparathyroidism (SHPT) Completed NCT00823303 Phase 4
23 Study of Management of Pasireotide-induced Hyperglycemia in Adult Patients With Cushing's Disease or Acromegaly Recruiting NCT02060383 Phase 4
24 Study to Allow Access to Pasireotide for Patients Benefiting From Pasireotide Treatment in a Novartis-sponsored Study. Recruiting NCT01794793 Phase 4
25 Effect and Safety of Oral Vancomycin in Primary Sclerosing Cholangitis Patients Recruiting NCT02605213 Phase 4
26 Adjuvant Endocrine Therapy for Estrogen Receptor-beta Positive Triple Negative Breast Cancer Recruiting NCT02089854 Phase 4
27 To Assess the Efficacy and Safety of Olaparib Maintenance Monotherapy in the Treatment of Ovarian Cancer Recruiting NCT02476968 Phase 4
28 Trial of Steroid Avoidance and Low-dose CNI by ATG-induction in Renal Transplantation Recruiting NCT02083991 Phase 4
29 Extended Use of Recombinant Human Parathyroid Hormone (rhPTH(1-84)) in Hypoparathyroidism Recruiting NCT02910466 Phase 4
30 Efficacy and Safety of Cinacalcet in Ca, P and iPTH Levels in Patients With Mild, Moderate and Severe SHPT Not yet recruiting NCT03123406 Phase 4
31 Reflexology's Effect on Polycystic Ovary Syndrome: A Pilot Study Unknown status NCT00746148 Phase 3
32 Reflexology's Effect on Polycystic Ovary Syndrome (PCOS) Unknown status NCT00744510 Phase 3
33 Diabetes Prevention Program Outcomes Study Unknown status NCT00038727 Phase 3
34 Phase III Trial of Gemcitabine, Curcumin and Celebrex in Patients With Advance or Inoperable Pancreatic Cancer Unknown status NCT00486460 Phase 3
35 Cinacalcet to Treat Familial Primary Hyperparathyroidism Completed NCT00325104 Phase 3
36 Study of Lanreotide Autogel in Non-functioning Entero-pancreatic Endocrine Tumours Completed NCT00353496 Phase 3
37 A Phase I/III Study of D961H 10 mg and 20 mg in Japanese Paediatric Patients With Gastrointestinal Acid Related Diseases Completed NCT02153398 Phase 3
38 The Effect of Liraglutide Compared to Sitagliptin, Both in Combination With Metformin on Glycaemic Control in Subjects With Type 2 Diabetes Mellitus Completed NCT00700817 Phase 3
39 Caelyx Plus Carboplatin Versus Paclitaxel Plus Carboplatin in Patients With Epithelial Ovarian Cancer in Late Relapse Completed NCT00189553 Phase 3
40 Study of Paclitaxel in Patients With Ovarian Cancer Completed NCT00989131 Phase 3
41 Gemcitabine and ON 01910.Na in Previously Untreated Metastatic Pancreatic Cancer Completed NCT01360853 Phase 3
42 PGL4001 Versus Placebo in Uterine Myomas Completed NCT00755755 Phase 3
43 Early Compared With Delayed Hormone Therapy in Treating Patients With Nonmetastatic Prostate Cancer Completed NCT01819285 Phase 3
44 Carboplatin/Paclitaxel +/-Gemcitabine in Treating Patients With Ovarian Epithelial or Fallopian Tube Cancer Completed NCT00052468 Phase 3
45 AURELIA: A Study of Avastin (Bevacizumab) Added to Chemotherapy in Patients With Platinum-resistant Ovarian Cancer Completed NCT00976911 Phase 3
46 A Study of the Addition of Avastin (Bevacizumab) to Carboplatin and Paclitaxel Therapy in Patients With Ovarian Cancer Completed NCT01239732 Phase 3
47 Arimidex/Tamoxifen Neo Adjuvant Study in Premenopausal Patients With Breast Cancer Under Anti Hormonal Treatment Completed NCT00605267 Phase 3
48 OVATURE (OVArian TUmor REsponse) A Phase III Study of Weekly Carboplatin With and Without Phenoxodiol in Patients With Platinum-Resistant, Recurrent Epithelial Ovarian Cancer Completed NCT00382811 Phase 3
49 Randomized Trial of EUS Neurolysis in Pancreas Cancer Completed NCT00279292 Phase 3
50 Larotaxel Compared To Continuous Administration of 5-FU in Advanced Pancreatic Cancer Patients Previously Treated With A Gemcitabine-Containing Regimen Completed NCT00417209 Phase 3

Search NIH Clinical Center for Multiple Endocrine Neoplasia 1

Cochrane evidence based reviews: multiple endocrine neoplasia type 1

Genetic Tests for Multiple Endocrine Neoplasia 1

Genetic tests related to Multiple Endocrine Neoplasia 1:

id Genetic test Affiliating Genes
1 Multiple Endocrine Neoplasia, Type 1 29
2 Multiple Endocrine Neoplasia Type 1 24 MEN1

Anatomical Context for Multiple Endocrine Neoplasia 1

MalaCards organs/tissues related to Multiple Endocrine Neoplasia 1:

39
Pituitary, Pancreas, Thyroid, Bone, Kidney, Pancreatic Islet, Spinal Cord

Publications for Multiple Endocrine Neoplasia 1

Articles related to Multiple Endocrine Neoplasia 1:

(show all 14)
id Title Authors Year
1
Corneal xanthogranuloma in association with multiple endocrine neoplasia 1: A clinicopathologic case report and review of the literature. ( 26949359 )
2016
2
Bilateral granulosa cell tumors: a novel malignant manifestation of multiple endocrine neoplasia 1 syndrome found in a patient with a rare menin in-frame deletion. ( 25733923 )
2015
3
An unusual presentation of a patient with multiple endocrine neoplasia- 1. ( 25653982 )
2014
4
Primary hyperparathyroidism in young people. When should we perform genetic testing for multiple endocrine neoplasia 1 (MEN-1)? ( 24731012 )
2014
5
Pancreatic adenocarcinoma in a patient with multiple endocrine neoplasia 1 syndrome. ( 23591436 )
2013
6
Novel association of thymic carcinoid with a germline mutation in a kindred with multiple endocrine neoplasia 1 (MEN1). ( 22549346 )
2012
7
The role of nuclear imaging in multiple endocrine neoplasia 1 (MEN 1). ( 27307880 )
2010
8
Causes and treatment of recurrent hyperparathyroidism after subtotal parathyroidectomy in the presence of multiple endocrine neoplasia 1. ( 20431882 )
2010
9
Multiple endocrine neoplasia 1: providing care for the family. ( 20880824 )
2010
10
Gene symbol: MEN1. Disease: Multiple endocrine neoplasia 1. ( 20960638 )
2008
11
Diffuse gastric carcinoid polyposis in multiple endocrine neoplasia 1 syndrome without hypergastrinemia. ( 17524399 )
2007
12
Thymic carcinoid in multiple endocrine neoplasia 1: genotype-phenotype correlation and prevention. ( 16594911 )
2006
13
Multiple endocrine neoplasia 1--current recommendations for diagnosis and treatment. ( 12089861 )
2002
14
Multiple endocrine neoplasia 1 gene alterations in MEN1-associated and sporadic lipomas. ( 9498491 )
1998

Variations for Multiple Endocrine Neoplasia 1

UniProtKB/Swiss-Prot genetic disease variations for Multiple Endocrine Neoplasia 1:

66 (show top 50) (show all 90)
id 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
11 MEN1 p.Ala165Pro VAR_005437
12 MEN1 p.Ala169Asp VAR_005438
13 MEN1 p.Asp177Tyr VAR_005441
14 MEN1 p.Ala181Pro VAR_005442 rs376872829
15 MEN1 p.Glu184Asp VAR_005443
16 MEN1 p.Trp188Ser VAR_005444
17 MEN1 p.Leu228Pro VAR_005446
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
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
34 MEN1 p.Cys246Arg VAR_008018
35 MEN1 p.Glu45Lys VAR_039587
36 MEN1 p.Arg98Leu VAR_039588
37 MEN1 p.Gly110Glu VAR_039589
38 MEN1 p.His139Pro VAR_039590
39 MEN1 p.His139Arg VAR_039591
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
48 MEN1 p.Glu184Gln VAR_039600
49 MEN1 p.His186Arg VAR_039601
50 MEN1 p.Trp188Arg VAR_039602 rs794728649

ClinVar genetic disease variations for Multiple Endocrine Neoplasia 1:

6 (show top 50) (show all 85)
id Gene Variation Type Significance SNP ID Assembly Location
1 RET NM_020975.4(RET): c.1901G> A (p.Cys634Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs75996173 GRCh37 Chromosome 10, 43609949: 43609949
2 RET NM_020630.4(RET): c.1859G> A (p.Cys620Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs77503355 GRCh37 Chromosome 10, 43609103: 43609103
3 RET NM_020975.4(RET): c.1900T> C (p.Cys634Arg) single nucleotide variant Pathogenic/Likely pathogenic rs75076352 GRCh37 Chromosome 10, 43609948: 43609948
4 RET NM_020630.4(RET): c.1902C> G (p.Cys634Trp) single nucleotide variant Pathogenic/Likely pathogenic rs77709286 GRCh37 Chromosome 10, 43609950: 43609950
5 RET NM_020975.4(RET): c.2753T> C (p.Met918Thr) single nucleotide variant Pathogenic/Likely pathogenic rs74799832 GRCh37 Chromosome 10, 43617416: 43617416
6 RET NM_020630.4(RET): c.1852T> C (p.Cys618Arg) single nucleotide variant Pathogenic/Likely pathogenic rs76262710 GRCh37 Chromosome 10, 43609096: 43609096
7 RET NM_020630.4(RET): c.2304G> C (p.Glu768Asp) single nucleotide variant Pathogenic/Likely pathogenic rs78014899 GRCh37 Chromosome 10, 43613840: 43613840
8 RET NM_020975.4(RET): c.1826G> A (p.Cys609Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs77939446 GRCh37 Chromosome 10, 43609070: 43609070
9 RET NM_020975.4(RET): c.2671T> G (p.Ser891Ala) single nucleotide variant Pathogenic/Likely pathogenic rs75234356 GRCh37 Chromosome 10, 43615592: 43615592
10 MEN1 NM_130799.2(MEN1): c.65T> G (p.Leu22Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894256 GRCh37 Chromosome 11, 64577517: 64577517
11 MEN1 NM_130799.2(MEN1): c.402delC (p.Phe134Leufs) deletion Pathogenic rs397515385 GRCh37 Chromosome 11, 64577180: 64577180
12 MEN1 NM_000244.3(MEN1): c.608G> A (p.Trp203Ter) single nucleotide variant Pathogenic rs104894258 GRCh37 Chromosome 11, 64575424: 64575424
13 MEN1 NM_130799.2(MEN1): c.1087_1089delGAG (p.Glu363del) deletion Pathogenic rs869025185 GRCh38 Chromosome 11, 64805731: 64805733
14 MEN1 NM_130799.2(MEN1): c.1306T> A (p.Trp436Arg) single nucleotide variant Pathogenic rs104894259 GRCh37 Chromosome 11, 64572550: 64572550
15 MEN1 NM_000244.3(MEN1): c.1322G> A (p.Trp441Ter) single nucleotide variant Pathogenic rs104894260 GRCh37 Chromosome 11, 64572549: 64572549
16 MEN1 NM_130799.2(MEN1): c.1579C> T (p.Arg527Ter) single nucleotide variant Pathogenic rs104894261 GRCh37 Chromosome 11, 64572060: 64572060
17 MEN1 NM_130799.2(MEN1): c.778C> T (p.Gln260Ter) single nucleotide variant Pathogenic rs104894266 GRCh37 Chromosome 11, 64575029: 64575029
18 MEN1 NM_130799.2(MEN1): c.1378C> T (p.Arg460Ter) single nucleotide variant Pathogenic rs104894267 GRCh37 Chromosome 11, 64572261: 64572261
19 MEN1 NM_130799.2(MEN1): c.249_252delGTCT (p.Ile85Serfs) deletion Pathogenic rs587776841 GRCh37 Chromosome 11, 64577330: 64577333
20 MEN1 NM_000244.3(MEN1): c.778G> A (p.Glu260Lys) single nucleotide variant Pathogenic rs104894268 GRCh37 Chromosome 11, 64575044: 64575044
21 MEN1 NM_000244.3(MEN1): c.566T> A (p.Val189Glu) single nucleotide variant Pathogenic rs104894262 GRCh37 Chromosome 11, 64575466: 64575466
22 MEN1 NM_000244.3(MEN1): c.415C> G (p.His139Asp) single nucleotide variant Pathogenic rs104894263 GRCh37 Chromosome 11, 64577167: 64577167
23 MEN1 MEN1, IVS4, G-A, -9 single nucleotide variant Pathogenic
24 MEN1 MEN1, 3-BP DEL, 2641GAA deletion Pathogenic
25 MEN1 MEN1, 4-BP DEL, 4480CAGT deletion Pathogenic
26 MEN1 NM_000244.3(MEN1): c.1267G> A (p.Asp423Asn) single nucleotide variant Pathogenic rs104894264 GRCh37 Chromosome 11, 64572604: 64572604
27 MEN1 MEN1, 1-BP DEL, 7773C deletion Pathogenic
28 MEN1 NM_000244.3(MEN1): c.1077C> A (p.Cys359Ter) single nucleotide variant Pathogenic rs104894265 GRCh37 Chromosome 11, 64573230: 64573230
29 MEN1 MEN1, 6-BP INS, NT879 insertion Pathogenic
30 MEN1 MEN1, 12-BP DEL, NT1466 deletion Pathogenic
31 MEN1 MEN1, 1-BP INS, 1657C insertion Pathogenic
32 MEN1 MEN1, IVS5, G-A, +1 single nucleotide variant Pathogenic
33 RET NM_020975.4(RET): c.1853G> A (p.Cys618Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs79781594 GRCh37 Chromosome 10, 43609097: 43609097
34 RET NM_020630.4(RET): c.1888T> C (p.Cys630Arg) single nucleotide variant Pathogenic/Likely pathogenic rs377767404 GRCh37 Chromosome 10, 43609936: 43609936
35 MEN1 NM_000244.3(MEN1): c.1028dupT (p.Gln344Alafs) duplication Likely pathogenic rs386134245 GRCh37 Chromosome 11, 64573740: 64573740
36 MEN1 NM_000244.3(MEN1): c.1078delC (p.Arg360Glyfs) deletion Likely pathogenic rs386134246 GRCh37 Chromosome 11, 64573229: 64573229
37 MEN1 NM_000244.3(MEN1): c.1189dupG (p.Glu397Glyfs) duplication Likely pathogenic rs386134247 GRCh37 Chromosome 11, 64573118: 64573118
38 MEN1 NM_000244.3(MEN1): c.119_124delTGCTGG (p.Val40_Leu41del) deletion Likely pathogenic rs386134248 GRCh37 Chromosome 11, 64577458: 64577463
39 MEN1 NM_000244.3(MEN1): c.1277G> A (p.Cys426Tyr) single nucleotide variant Likely pathogenic rs386134249 GRCh37 Chromosome 11, 64572594: 64572594
40 MEN1 NM_000244.3(MEN1): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs386134250 GRCh37 Chromosome 11, 64577581: 64577581
41 MEN1 NM_000244.3(MEN1): c.211_212delCC (p.Pro71Alafs) deletion Pathogenic rs386134251 GRCh37 Chromosome 11, 64577370: 64577371
42 MEN1 NM_000244.3(MEN1): c.252dupT (p.Ile85Tyrfs) duplication Likely pathogenic rs386134253 GRCh37 Chromosome 11, 64577330: 64577330
43 MEN1 NM_000244.3(MEN1): c.417C> G (p.His139Gln) single nucleotide variant Likely pathogenic rs386134254 GRCh37 Chromosome 11, 64577165: 64577165
44 MEN1 NM_000244.3(MEN1): c.480_481insAATT (p.Gly161Asnfs) insertion Likely pathogenic rs386134255 GRCh37 Chromosome 11, 64575551: 64575552
45 MEN1 NM_000244.3(MEN1): c.518T> C (p.Leu173Pro) single nucleotide variant Pathogenic rs386134256 GRCh37 Chromosome 11, 64575514: 64575514
46 MEN1 NM_000244.3(MEN1): c.659_667delTGGCTGAGCinsGCCCCT (p.Val220_Arg223delinsGlyProTrp) indel Likely pathogenic rs386134257 GRCh37 Chromosome 11, 64575365: 64575373
47 MEN1 NM_000244.3(MEN1): c.664_669+2delGAGCGGGT deletion Likely pathogenic rs386134258 GRCh37 Chromosome 11, 64575361: 64575368
48 MEN1 NM_000244.3(MEN1): c.773C> A (p.Ser258Ter) single nucleotide variant Likely pathogenic rs386134259 GRCh37 Chromosome 11, 64575049: 64575049
49 MEN1 NM_000244.3(MEN1): c.951C> G (p.Tyr317Ter) single nucleotide variant Pathogenic rs386134260 GRCh37 Chromosome 11, 64573817: 64573817
50 MEN1 NM_000244.3(MEN1): c.970dupT (p.Tyr324Leufs) duplication Likely pathogenic rs386134261 GRCh37 Chromosome 11, 64573798: 64573798

Copy number variations for Multiple Endocrine Neoplasia 1 from CNVD:

7
id CNVD ID Chromosom 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 1

Search GEO for disease gene expression data for Multiple Endocrine Neoplasia 1.

Pathways for Multiple Endocrine Neoplasia 1

Pathways related to Multiple Endocrine Neoplasia 1 according to GeneCards Suite gene sharing:

(show all 16)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.91 CASR CDC73 CDKN1A CDKN1B CDKN2B GAST
2
Show member pathways
12.78 CDKN1A CDKN1B CDKN2B GNAS PLCB3 PRKAR1A
3
Show member pathways
12.26 GNAS PLCB3 PTH SCT
4
Show member pathways
12.2 CDKN1A CDKN1B CDKN2B CDKN2C
5 12.05 CDKN1A CDKN1B CDKN2C MEN1
6 12.03 CDKN1A CDKN1B CDKN2B GNAS PLCB3 RET
7
Show member pathways
12 GAST GNAS PLCB3 SST
8 11.91 CDKN1A CDKN1B CDKN2B CDKN2C MEN1
9 11.58 CDKN1A CDKN1B CDKN2C
10 11.49 CDKN1A CDKN1B CDKN2B
11 11.31 CDKN1A CDKN1B RET
12 11.27 CDKN1A CDKN1B CDKN2B
13 11.24 CASR GNAS PLCB3
14 10.92 CDKN1A CDKN1B GNAS PLCB3
15 10.52 GNAS PLCB3 PRKAR1A PTH
16 10.36 GAST SCT

GO Terms for Multiple Endocrine Neoplasia 1

Cellular components related to Multiple Endocrine Neoplasia 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein complex GO:0043234 9.35 CDKN1A CDKN1B MEN1 PLCB3 PRKAR1A
2 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.62 SDHB SDHD

Biological processes related to Multiple Endocrine Neoplasia 1 according to GeneCards Suite gene sharing:

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.87 CDC73 CDKN1A CDKN1B CDKN2B CDKN2C MEN1
2 cell cycle arrest GO:0007050 9.8 CDKN1A CDKN1B CDKN2B CDKN2C
3 response to organic cyclic compound GO:0014070 9.76 CASR CDKN1A CDKN1B PRL
4 G1/S transition of mitotic cell cycle GO:0000082 9.74 CDKN1A CDKN1B CDKN2C
5 response to drug GO:0042493 9.7 CDKN1A CDKN1B GNAS PRL PTH RET
6 positive regulation of cAMP biosynthetic process GO:0030819 9.69 GNAS PTH SCT
7 negative regulation of epithelial cell proliferation GO:0050680 9.67 CDC73 CDKN1B CDKN2B MEN1
8 negative regulation of G1/S transition of mitotic cell cycle GO:2000134 9.58 CDC73 CDKN1A CDKN2B
9 mitotic cell cycle arrest GO:0071850 9.56 CDKN1A CDKN1B
10 regulation of cyclin-dependent protein serine/threonine kinase activity GO:0000079 9.56 CDKN1A CDKN1B CDKN2B CDKN2C
11 response to fibroblast growth factor GO:0071774 9.54 CASR PTH
12 response to parathyroid hormone GO:0071107 9.52 GNAS PTH
13 hormone-mediated apoptotic signaling pathway GO:0008628 9.48 PTH SST
14 negative regulation of cyclin-dependent protein kinase activity GO:1904030 9.43 CDKN1A CDKN1B
15 negative regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045736 9.26 CDKN1A CDKN1B CDKN2C MEN1
16 negative regulation of phosphorylation GO:0042326 8.92 CDKN1A CDKN1B CDKN2B CDKN2C
17 phosphorylation GO:0016310 10.02 CDKN1A CDKN1B CDKN2B CDKN2C PRKAR1A RET

Molecular functions related to Multiple Endocrine Neoplasia 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.85 CDKN1A CDKN1B CDKN2B CDKN2C PRKAR1A RET
2 protein kinase binding GO:0019901 9.72 CASR CDKN1A CDKN1B CDKN2B CDKN2C
3 hormone activity GO:0005179 9.35 GAST PRL PTH SCT SST
4 ubiquinone binding GO:0048039 9.26 SDHB SDHD
5 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.16 SDHB SDHD
6 cyclin-dependent protein serine/threonine kinase inhibitor activity GO:0004861 8.92 CDKN1A CDKN1B CDKN2B CDKN2C

Sources for Multiple Endocrine Neoplasia 1

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