MEN1
MCID: MLT156
MIFTS: 72

Multiple Endocrine Neoplasia, Type I (MEN1)

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

Aliases & Classifications for Multiple Endocrine Neoplasia, Type I

MalaCards integrated aliases for Multiple Endocrine Neoplasia, Type I:

Name: Multiple Endocrine Neoplasia, Type I 57
Multiple Endocrine Neoplasia Type 1 12 76 24 53 59 55 44 15 73
Wermer Syndrome 57 12 24 53 59
Men1 57 24 53 59 75
Multiple Endocrine Neoplasia, Type 1 29 6
Multiple Endocrine Neoplasia 1 57 13
Familial Multiple Endocrine Neoplasia Type I 75
Neoplasia, Endocrine, Multiple, Type 1 40
Endocrine Adenomatosis, Multiple 57
Multiple Endocrine Adenomatosis 24
Endocrine Adenomatosis Multiple 53
Multiple Endocrine Neoplasia 73
Wermer's Syndrome 12
Men1 Syndrome 24
Men Type I 12
Men I 57
Mea I 57
Men 1 53

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal dominant


HPO:

32
multiple endocrine neoplasia, type i:
Inheritance autosomal dominant inheritance


GeneReviews:

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

Classifications:



Summaries for Multiple Endocrine Neoplasia, Type I

NIH Rare Diseases : 53 Multiple endocrine neoplasia, type 1 (MEN1) is an inherited condition that causes tumors of the endocrine system (the body's network of hormone-producing glands). People affected by MEN1 typically develop tumors of the parathyroid gland, the pituitary gland, and the pancreas, although other glands may be involved as well. These tumors are often "functional" and secrete excess hormones, which can cause a variety of health problems. The most common signs and symptoms of MEN1 are caused by hyperparathyroidism (overactive parathyroid gland) and may include kidney stones; thinning of bones; nausea and vomiting; high blood pressure (hypertension); weakness; and fatigue. MEN1 is caused by changes (mutations) in the MEN1 gene and is inherited in an autosomal dominant manner. Management for MEN1 usually includes regular screening to allow for early diagnosis and treatment of endocrine tumors.

MalaCards based summary : Multiple Endocrine Neoplasia, Type I, also known as multiple endocrine neoplasia type 1, is related to insulinoma and multiple endocrine neoplasia, type iib, 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 Bexxar and Degarelix have been mentioned in the context of this disorder. Affiliated tissues include pituitary, pancreas and thyroid, and related phenotypes are hyperparathyroidism and extrahepatic cholestasis

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.

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)

UniProtKB/Swiss-Prot : 75 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 : 76 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, 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 244)
# Related Disease Score Top Affiliating Genes
1 insulinoma 32.8 SST SCT MEN1 INS CHGA
2 multiple endocrine neoplasia, type iib 32.8 RET MEN1 CDKN1B
3 familial isolated hyperparathyroidism 32.7 RET PYGM PTH MEN1 GAST CDC73
4 thyroid carcinoma, familial medullary 32.5 SST RET MEN1 GAST CHGA
5 multiple endocrine neoplasia, type iia 32.4 SDHD RET PTH MEN1 CDC73
6 multiple endocrine neoplasia, type iv 32.3 RET PRL PRKAR1A MEN1 CDKN2C CDKN1B
7 ectopic cushing syndrome 32.3 SST RET MEN1
8 pheochromocytoma 32.3 SST SDHD RET MEN1 CHGA
9 pituitary tumors 32.3 SST PRL MEN1 GNAS
10 pancreatic cancer 32.3 MEN1 SCT SST GAST FGF2 CDKN1A
11 carney complex variant 32.2 PRKAR1A MEN1 GNAS
12 pituitary adenoma, prolactin-secreting 32.1 SST PRL PRKAR1A MEN1 GNAS
13 parathyroid adenoma 32.1 RET PTH MEN1 CHGA CDKN2C CDC73
14 peptic ulcer disease 32.0 SCT MEN1 GAST
15 intestinal neuroendocrine benign tumor 32.0 MEN1 SCT
16 small intestine cancer 32.0 SST SCT MEN1
17 hyperinsulinemic hypoglycemia 31.9 MEN1 INS SST
18 hyperparathyroidism 1 31.9 CDC73 MEN1
19 pancreatic gastrinoma 31.9 SCT PYGM MEN1
20 small intestine neuroendocrine neoplasm 31.9 MEN1 SCT
21 duodenal disease 31.9 SST SCT MEN1
22 nemaline myopathy 4 31.9 CDKN1B MEN1
23 pancreatic somatostatinoma 31.9 MEN1 SST
24 pituitary gland disease 31.8 SST PRL MEN1 INS
25 pancreatic cholera 31.8 SST SCT MEN1 GAST
26 parathyroid transitional clear cell adenoma 31.8 PTH MEN1
27 serotonin syndrome 31.8 SST MEN1 GAST CHGA
28 pancreatic cystadenoma 31.8 SST MEN1 INS CHGA
29 von hippel-lindau syndrome 31.8 SDHD RET MEN1 CHGA
30 functioning pituitary adenoma 31.8 SST PRL MEN1
31 duodenal gastrinoma 31.7 SST SCT MEN1 GAST CHGA
32 gastrointestinal system benign neoplasm 31.7 SST MEN1 INS GAST CHGA
33 carcinoid tumors, intestinal 31.7 SST SDHD MEN1 CHGA
34 hormone producing pituitary cancer 31.7 SST PRKAR1A MEN1 GNAS
35 hyperparathyroidism 2 with jaw tumors 31.6 RET MEN1 CDC73 CASR
36 parathyroid gland disease 31.6 RET PTH MEN1 CDC73 CASR
37 thyroid cancer, nonmedullary, 2 31.5 SST RET MEN1 CHGA
38 autosomal genetic disease 31.5 SDHD RET PRKAR1A MEN1 INS
39 multiple endocrine neoplasia 31.5 RET PRKAR1A MEN1 CHGA CDKN1B
40 endocrine gland cancer 31.3 SST RET MEN1 GNAS GAST CHGA
41 cell type benign neoplasm 31.1 SST PTH PRL MEN1 INS GNAS
42 endocrine organ benign neoplasm 31.1 SST SDHD RET PTH PRL MEN1
43 zollinger-ellison syndrome 30.9 SST SCT MEN1 GAST CHGA
44 gastrinoma 30.5 SST SCT MEN1 INS GAST CHGA
45 glucagonoma 30.4 SST SCT CHGA
46 carcinoid syndrome 30.4 SST MEN1 CHGA
47 neuroendocrine tumor 30.3 SST MEN1 GAST CHGA
48 acromegaly 30.3 SST PRL MEN1 INS GNAS
49 islet cell tumor 30.3 SST MEN1 INS GAST CHGA
50 conn's syndrome 30.2 SST PRL PRKAR1A MEN1 GNAS

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

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
hypoglycemia
hypercalcemia
elevated acth
abnormal secretin test
elevated gastrin concentration
more
Abdomen Gastrointestinal:
diarrhea
zollinger-ellison syndrome
esophagitis
intractable peptic ulcer

Neoplasia:
carcinoid tumors

Endocrine Features:
glucagonoma
parathyroid adenoma
pituitary adenoma
insulinoma
pancreatic islet cell adenoma
more
Skin Nails Hair Skin:
confetti-like hypopigmented macules
subcutaneous lipomas
facial angiofibromas
collagenomas
cafe-au-lait macules
more

Clinical features from OMIM:

131100

Human phenotypes related to Multiple Endocrine Neoplasia, Type I:

59 32 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperparathyroidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000843
2 extrahepatic cholestasis 59 32 occasional (7.5%) Occasional (29-5%) HP:0012334
3 glucagonoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0030404
4 increased glucagon level 59 32 occasional (7.5%) Occasional (29-5%) HP:0030688
5 carcinoid tumor 59 32 occasional (7.5%) Occasional (29-5%) HP:0100570
6 adrenocortical carcinoma 59 32 very rare (1%) Very rare (<4-1%) HP:0006744
7 parathyroid adenoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0002897
8 hypercalcemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003072
9 elevated circulating parathyroid hormone level 59 32 hallmark (90%) Very frequent (99-80%) HP:0003165
10 parathyroid hyperplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008208
11 hyperinsulinemic hypoglycemia 59 32 frequent (33%) Frequent (79-30%) HP:0000825
12 growth hormone excess 59 32 frequent (33%) Frequent (79-30%) HP:0000845
13 thyroid adenoma 59 32 frequent (33%) Frequent (79-30%) HP:0000854
14 subcutaneous lipoma 59 32 frequent (33%) Frequent (79-30%) HP:0001031
15 diarrhea 59 32 frequent (33%) Frequent (79-30%) HP:0002014
16 zollinger-ellison syndrome 59 32 frequent (33%) Frequent (79-30%) HP:0002044
17 episodic abdominal pain 59 32 frequent (33%) Frequent (79-30%) HP:0002574
18 pituitary adenoma 59 32 Frequent (79-30%) HP:0002893
19 peptic ulcer 59 32 frequent (33%) Frequent (79-30%) HP:0004398
20 pituitary prolactin cell adenoma 59 32 frequent (33%) Frequent (79-30%) HP:0006767
21 adrenocortical adenoma 59 32 frequent (33%) Frequent (79-30%) HP:0008256
22 fasting hyperinsulinemia 59 32 frequent (33%) Frequent (79-30%) HP:0008283
23 angiofibromas 59 32 frequent (33%) Frequent (79-30%) HP:0010615
24 pituitary growth hormone cell adenoma 59 32 frequent (33%) Frequent (79-30%) HP:0011760
25 pituitary null cell adenoma 59 32 frequent (33%) Frequent (79-30%) HP:0011761
26 insulinoma 59 32 frequent (33%) Frequent (79-30%) HP:0012197
27 esophagitis 59 32 frequent (33%) Frequent (79-30%) HP:0100633
28 confetti-like hypopigmented macules 59 32 occasional (7.5%) Occasional (29-5%) HP:0007449
29 pituitary corticotropic cell adenoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0008291
30 erythema 59 32 occasional (7.5%) Occasional (29-5%) HP:0010783
31 increased urinary cortisol level 59 32 occasional (7.5%) Occasional (29-5%) HP:0012030
32 thymoma 59 32 very rare (1%) Very rare (<4-1%) HP:0100522
33 hypoglycemia 32 HP:0001943
34 multiple lipomas 59 Frequent (79-30%)
35 abnormality of the endocrine system 59 Very frequent (99-80%)
36 neuroendocrine neoplasm 59 Frequent (79-30%)
37 abnormality of pancreas physiology 59 Very frequent (99-80%)
38 hypercortisolism 59 Occasional (29-5%)
39 abnormality of the thyroid gland 32 HP:0000820
40 adenoma sebaceum 32 HP:0009720
41 cafe-au-lait spot 32 HP:0000957
42 increased circulating cortisol level 32 occasional (7.5%) HP:0003118
43 pancreatic islet cell adenoma 32 HP:0008261
44 prolactinoma 32 HP:0040278

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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.66 CDKN1B CDKN2C PRKAR1A RET SDHD
2 Decreased viability GR00221-A-2 9.66 PRKAR1A RET SDHD
3 Decreased viability GR00221-A-3 9.66 PRKAR1A
4 Decreased viability GR00221-A-4 9.66 PRKAR1A RET SDHD
5 Decreased viability GR00231-A 9.66 RET
6 Decreased viability GR00301-A 9.66 CDKN2C RET
7 Decreased viability GR00342-S-2 9.66 CDKN2C
8 Decreased viability GR00381-A-1 9.66 SDHD
9 Decreased viability GR00402-S-2 9.66 CDKN1B CDKN2C PRKAR1A RET SDHD

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

46 (show all 23)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.5 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
2 endocrine/exocrine gland MP:0005379 10.46 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
3 behavior/neurological MP:0005386 10.45 CASR CDC73 CDKN1A CDKN1B CDKN2C FGF2
4 cellular MP:0005384 10.44 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
5 cardiovascular system MP:0005385 10.41 CDC73 CDKN1A CDKN1B CDKN2C CHGA FGF2
6 growth/size/body region MP:0005378 10.39 CASR CDC73 CDKN1A CDKN1B CDKN2C CHGA
7 immune system MP:0005387 10.39 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
8 mortality/aging MP:0010768 10.39 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
9 hematopoietic system MP:0005397 10.35 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
10 digestive/alimentary MP:0005381 10.27 CASR CDC73 CDKN1A CDKN1B GAST INS
11 neoplasm MP:0002006 10.22 CDC73 CDKN1A CDKN1B CDKN2B CDKN2C FGF2
12 muscle MP:0005369 10.21 CASR CDC73 CDKN1A CDKN1B CHGA FGF2
13 integument MP:0010771 10.19 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
14 nervous system MP:0003631 10.18 CDC73 CDKN1A CDKN1B CDKN2C CHGA FGF2
15 embryo MP:0005380 10.17 CDC73 CDKN1A CDKN1B INS MEN1 PRKAR1A
16 craniofacial MP:0005382 10.13 CDC73 CDKN1A CDKN1B GNAS MEN1 PRKAR1A
17 adipose tissue MP:0005375 10.09 CDC73 CDKN1A CDKN1B GNAS INS PRKAR1A
18 liver/biliary system MP:0005370 10.08 CDC73 CDKN1A CDKN1B GNAS INS MEN1
19 renal/urinary system MP:0005367 10 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
20 reproductive system MP:0005389 9.93 CDC73 CDKN1A CDKN1B CDKN2B CDKN2C CHGA
21 no phenotypic analysis MP:0003012 9.92 CDKN1A CDKN1B CDKN2B CHGA GNAS INS
22 respiratory system MP:0005388 9.5 CDC73 CDKN1A CDKN1B CDKN2C GNAS PRKAR1A
23 skeleton MP:0005390 9.32 CASR CDC73 CDKN1A CDKN1B FGF2 GNAS

Drugs & Therapeutics for Multiple Endocrine Neoplasia, Type I

FDA approved drugs:

(show all 10)
# Drug Name Active Ingredient(s) 18 Company Approval Date
1
Bexxar 18 49 TOSITUMOMAB; IODINE I 131 TOSITUMOMAB Corixa June 2003
2
Degarelix 18 49 degarelix Ferring Pharmaceuticals December of 2008
3
Evista 18 49 RALOXIFENE HYDROCHLORIDE Eli Lilly September 2007
4
Femara 18 49 LETROZOLE Novartis January 2001
5
Gardasil 18 49 quadrivalent human papillomavirus (types 6, 11, 16, 18) recombinant vaccine Merck June 2006
6
Sutent 18 49 SUNITINIB MALATE Pfizer May 2011/ January 2006
7
Trelstar Depot/ Trelstar LA 18 TRIPTORELIN PAMOATE Debio Rechereche Pharmaceutique, Target Research Associates/ Debiopharm June 2000/ June 2001
8
Viadur 18 49 LEUPROLIDE ACETATE Alza March 2000
9
Zevalin 18 49 IBRITUMOMAB TIUXETAN Biogen IDEC February 2002
10
Zoladex 18 49 GOSERELIN ACETATE AstraZeneca January 1996

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

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Somatostatin Approved, Investigational Phase 3 51110-01-1, 38916-34-6 53481605
2 Hormones Phase 3
3 Hormone Antagonists Phase 3
4 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
5 Calcium, Dietary Phase 3
6 Cinacalcet Hydrochloride Phase 3
7 Calcimimetic Agents Phase 3
8
Capecitabine Approved, Investigational Phase 2,Phase 1 154361-50-9 60953
9
Dacarbazine Approved, Investigational Phase 2,Phase 1 4342-03-4 5351166
10
Temozolomide Approved, Investigational Phase 2,Phase 1 85622-93-1 5394
11 Mitogens Phase 2
12 Endothelial Growth Factors Phase 2
13 Alkylating Agents Phase 2,Phase 1
14 Antimetabolites Phase 2,Phase 1
15 Antimetabolites, Antineoplastic Phase 2,Phase 1
16 Antineoplastic Agents, Alkylating Phase 2,Phase 1
17
Veliparib Investigational Phase 1 912444-00-9 11960529
18 Poly(ADP-ribose) Polymerase Inhibitors Phase 1
19
Ethanol Approved 64-17-5 702
20
Octreotide Approved, Investigational Early Phase 1 83150-76-9 383414 6400441
21 Gastrointestinal Agents Early Phase 1
22 Radiopharmaceuticals Early Phase 1
23 Antineoplastic Agents, Hormonal Early Phase 1
24 Edotreotide Early Phase 1
25 phenylalanine Early Phase 1

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 Non-functioning Pancreatic Neuroendocrine Tumors in MEN1: Somatostatin Analogs Versus NO Treatment Not yet recruiting NCT02705651 Phase 3 Somatostatin-Analog
2 Cinacalcet to Treat Familial Primary Hyperparathyroidism Completed NCT00325104 Phase 3
3 Ziv-Aflibercept in Treating and Computed Tomography Perfusion Imaging in Predicting Response in Patients With Pancreatic Neuroendocrine Tumors That Are Metastatic or Cannot Be Removed by Surgery Completed NCT02101918 Phase 2
4 Pazopanib Hydrochloride in Treating Patients With Advanced Neuroendocrine Cancer Completed NCT00454363 Phase 2 Pazopanib Hydrochloride
5 Capecitabine and Temozolomide for Neuroendocrine Cancers Completed NCT00869050 Phase 2 Capecitabine;Temozolomide
6 Veliparib, Capecitabine, and Temozolomide in Patients With Advanced, Metastatic, and Recurrent Neuroendocrine Tumor Withdrawn NCT02831179 Phase 1 Capecitabine;Temozolomide;Veliparib
7 Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene Mutations in Acromegaly Unknown status NCT01902420
8 Study and Follow-up of Multiple Endocrine Neoplasia Type 1 Recruiting NCT03348501
9 Genetic Evaluation of Families With Endocrine Cancers Completed NCT01794676
10 Metabolomics and Genetic Diagnosing Pancreatic Neuroendocrine Tumors in MEN1 Patients Recruiting NCT03048266
11 Studies of Inherited Diseases of Metabolism Recruiting NCT00001345
12 68Ga-DOTA-TOC PET/CT in Imaging Participants With Neuroendocrine Tumors Active, not recruiting NCT03001349 Early Phase 1 Gallium Ga 68-Edotreotide
13 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
14 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
15 Overall and Disease Specific Survival in Patients With Confirmed MEN1 With or Without PNET (Pancreatic Neuroendocrine Tumors) Active, not recruiting NCT03043508

Search NIH Clinical Center for Multiple Endocrine Neoplasia, Type I

Cochrane evidence based reviews: multiple endocrine neoplasia type 1

Genetic Tests for Multiple Endocrine Neoplasia, Type I

Genetic tests related to Multiple Endocrine Neoplasia, Type I:

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

Anatomical Context for Multiple Endocrine Neoplasia, Type I

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

41
Pituitary, Pancreas, Thyroid, Pancreatic Islet, Bone, Kidney, Testes

Publications for Multiple Endocrine Neoplasia, Type I

Articles related to Multiple Endocrine Neoplasia, Type I:

(show top 50) (show all 793)
# Title Authors Year
1
A Case Report of Recurrent Severe Peripartum Cardiomyopathy Complicated by Factor V Leiden and Multiple Endocrine Neoplasia Type 1: A Management Conundrum. ( 29652683 )
2018
2
Reply to: Genotype-Phenotype Pancreatic Neuroendocrine Tumor Relationship in Multiple Endocrine Neoplasia Type 1 Patients: A 23 Year Experience at a Single Institution. ( 29859614 )
2018
3
Endoscopic Ultrasound Features of Multiple Endocrine Neoplasia Type 1-Related versus Sporadic Pancreatic Neuroendocrine Tumors: A Single-Center Retrospective Study. ( 29698969 )
2018
4
High Fear of Disease Occurrence Is Associated With Low Quality of Life in Patients With Multiple Endocrine Neoplasia Type 1: Results From the Dutch MEN1 Study Group. ( 29618015 )
2018
5
Genotype-phenotype pancreatic neuroendocrine tumor relationship in multiple endocrine neoplasia type 1 patients: A 23-year experience at a single institution. ( 29122330 )
2018
6
Simultaneous Glucagon and Vasoactive Intestinal Peptide Producing Pancreatic Neuroendocrine Tumors in a Patient With Multiple Endocrine Neoplasia Type 1: A Case Report and Literature Review. ( 29232343 )
2018
7
Letter to the editors regarding: genotype-phenotype pancreatic neuroendocrine tumor relationship in multiple endocrine neoplasia type 1 patients: a 23-year experience at a single institution. ( 29338880 )
2018
8
Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database. ( 29497973 )
2018
9
Nonfunctional pancreatic endocrine tumor in the peripancreatic region in a Chinese patient with multiple endocrine neoplasia type 1. ( 29239255 )
2018
10
Recent Topics Around Multiple Endocrine Neoplasia Type 1. ( 29897580 )
2018
11
Multiple endocrine neoplasia type 1 and breast cancer. An association to consider. ( 29910161 )
2018
12
Re: Multiple Endocrine Neoplasia Type 1. ( 29677893 )
2018
13
Update on multiple endocrine neoplasia Type 1 and 2. ( 29909163 )
2018
14
An assessment of<sup>18</sup>F-FDG PET/CT for thoracic screening and risk stratification of Pulmonary Nodules in Multiple Endocrine Neoplasia Type 1. ( 29446832 )
2018
15
Gastrinoma of Cystic Duct: A Rare Association With Multiple Endocrine Neoplasia Type 1. ( 30344820 )
2018
16
Total and Subtotal Parathyroidectomy in Young Patients With Multiple Endocrine Neoplasia Type 1-Related Primary Hyperparathyroidism: Potential Post-surgical Benefits and Complications. ( 30319541 )
2018
17
Impact of "Tailored" Parathyroidectomy for Treatment of Primary Hyperparathyroidism in Patients with Multiple Endocrine Neoplasia Type 1. ( 29138914 )
2018
18
Multiple endocrine neoplasia type 1 presenting with concurrent insulinoma and prolactinoma in early-adolescence. ( 30127804 )
2018
19
Expression of p27Kip1 and p18Ink4c in human multiple endocrine neoplasia type 1-related pancreatic neuroendocrine tumors. ( 29134609 )
2018
20
Can We Do Even Better? Preoperative Imaging Overestimates the Tumor Size in Pancreatic Neuroendocrine Neoplasms Associated with Multiple Endocrine Neoplasia Type 1. ( 29143084 )
2018
21
Correction to: Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database. ( 30032405 )
2018
22
Questions and Controversies About Parathyroid Pathophysiology in Children With Multiple Endocrine Neoplasia Type 1. ( 30065698 )
2018
23
Multiple endocrine neoplasia type 1: clinical correlates of MEN1 gene methylation. ( 30149991 )
2018
24
First report of concomitant pheochromocytoma and duodenal neuroendocrine tumour in a sporadic multiple endocrine neoplasia type 1. ( 30181398 )
2018
25
Multiple Endocrine Neoplasia Type 1: A Case Report With Review of Imaging Findings. ( 30258300 )
2018
26
Results of Duodenopancreatic Reoperations in Multiple Endocrine Neoplasia Type 1. ( 30288555 )
2018
27
Visualization of Macroprolactinoma by 18F-Fluorocholine PET/CT in a Patient With Multiple Endocrine Neoplasia Type 1. ( 30302421 )
2018
28
Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing. ( 30324798 )
2018
29
No evidence of adverse fertility and pregnancy outcomes in patients with unrecognized and untreated multiple endocrine neoplasia type 1. ( 30368878 )
2018
30
Multiple endocrine neoplasia type 1: extensive analysis of a large database of Florentine patients. ( 30428914 )
2018
31
Germline and somatic mosaicism in a family with Multiple Endocrine Neoplasia type 1 (MEN1) syndrome. ( 30481156 )
2018
32
High prevalence of chronic kidney disease in patients with multiple endocrine neoplasia type 1 and improved kidney function after parathyroidectomy. ( 30414705 )
2018
33
Prognostic value of WHO grade in pancreatic neuro-endocrine tumors in Multiple Endocrine Neoplasia type 1: Results from the DutchMEN1 Study Group. ( 28811081 )
2017
34
Financial burden is associated with worse health-related quality of life in adults with multiple endocrine neoplasia type 1. ( 28923697 )
2017
35
Unilateral Clearance for Primary Hyperparathyroidism in Selected Patients with Multiple Endocrine Neoplasia Type 1: Reply. ( 27847968 )
2017
36
Coexistence of GH-Producing Pituitary Macroadenoma and Meningioma in a Patient with Multiple Endocrine Neoplasia Type 1 with Hyperglycemia and Ketosis as First Clinical Sign. ( 29225978 )
2017
37
Novel Germline p.Gly42Val <i>MEN1</i> Mutation in a Family with Multiple Endocrine Neoplasia Type 1 - Excellent Response of Prolactinoma to Cabergoline. ( 29066490 )
2017
38
Preoperative Imaging Overestimates the Tumor Size in Pancreatic Neuroendocrine Neoplasms Associated with Multiple Endocrine Neoplasia Type 1. ( 29075857 )
2017
39
The LARO-MEN1 study: a longitudinal clinical experience with octreotide Long-Acting Release in patients with Multiple Endocrine Neoplasia type 1 Syndrome. ( 29263719 )
2017
40
Germline and somatic genetic changes in multicentric tumors obtained from a patient with multiple endocrine neoplasia type 1. ( 28503312 )
2017
41
A Case Report of Recurrent Severe Peripartum Cardiomyopathy Complicated by Factor V Leiden and Multiple Endocrine Neoplasia Type 1: A Management Conundrum. ( 29077664 )
2017
42
Multiple endocrine neoplasia type 1 presenting with refractory seizures. ( 29092962 )
2017
43
Multiple Neuroendocrine Tumors in Stomach and Duodenum in a Multiple Endocrine Neoplasia Type 1 Patient. ( 29268593 )
2017
44
Analysis of MEN1 c.482G&amp;gt;A (p.Gly161Asp) mutation in a pedigree with familial multiple endocrine neoplasia type 1. ( 29039523 )
2017
45
Laparoscopic total pancreatectomy for multiple endocrine neoplasia type 1 syndrome-associated multifocal, non-functioning pancreatic neuroendocrine tumor: A case report. ( 28589571 )
2017
46
Long-term outcomes in patients with multiple endocrine neoplasia type 1 and pancreaticoduodenal neuroendocrine tumours. ( 27770475 )
2017
47
Growth rate of small pancreatic neuroendocrine tumors in multiple endocrine neoplasia type 1: results from an endoscopic ultrasound based cohort study. ( 27975336 )
2017
48
Clinical Features and Prognosis of Thymic Neuroendocrine Tumors Associated with Multiple Endocrine Neoplasia Type 1: A Single Center Study, Systematic Review, and Meta-analysis. ( 28940393 )
2017
49
Disease and treatment factors associated with lower quality of life scores in adults with multiple endocrine neoplasia type I. ( 28919050 )
2017
50
Lung adenocarcinoma and adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1. ( 28070481 )
2017

Variations for Multiple Endocrine Neoplasia, Type I

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

75 (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
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
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 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

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

6 (show top 50) (show all 1066)
# Gene Variation Type Significance SNP ID Assembly Location
1 RET NM_020975.4(RET): c.1901G> A (p.Cys634Tyr) single nucleotide variant Pathogenic rs75996173 GRCh37 Chromosome 10, 43609949: 43609949
2 RET NM_020975.4(RET): c.1901G> A (p.Cys634Tyr) single nucleotide variant Pathogenic rs75996173 GRCh38 Chromosome 10, 43114501: 43114501
3 RET NM_020975.5(RET): c.1859G> A (p.Cys620Tyr) single nucleotide variant Pathogenic rs77503355 GRCh37 Chromosome 10, 43609103: 43609103
4 RET NM_020975.5(RET): c.1859G> A (p.Cys620Tyr) single nucleotide variant Pathogenic rs77503355 GRCh38 Chromosome 10, 43113655: 43113655
5 RET NM_020975.5(RET): c.1900T> C (p.Cys634Arg) single nucleotide variant Pathogenic rs75076352 GRCh37 Chromosome 10, 43609948: 43609948
6 RET NM_020975.5(RET): c.1900T> C (p.Cys634Arg) single nucleotide variant Pathogenic rs75076352 GRCh38 Chromosome 10, 43114500: 43114500
7 RET NM_020975.4(RET): c.1902C> G (p.Cys634Trp) single nucleotide variant Pathogenic rs77709286 GRCh37 Chromosome 10, 43609950: 43609950
8 RET NM_020975.4(RET): c.1902C> G (p.Cys634Trp) single nucleotide variant Pathogenic rs77709286 GRCh38 Chromosome 10, 43114502: 43114502
9 RET NM_020975.4(RET): c.2753T> C (p.Met918Thr) single nucleotide variant Pathogenic rs74799832 GRCh37 Chromosome 10, 43617416: 43617416
10 RET NM_020975.4(RET): c.2753T> C (p.Met918Thr) single nucleotide variant Pathogenic rs74799832 GRCh38 Chromosome 10, 43121968: 43121968
11 RET NM_020975.4(RET): c.1852T> C (p.Cys618Arg) single nucleotide variant Pathogenic rs76262710 GRCh37 Chromosome 10, 43609096: 43609096
12 RET NM_020975.4(RET): c.1852T> C (p.Cys618Arg) single nucleotide variant Pathogenic rs76262710 GRCh38 Chromosome 10, 43113648: 43113648
13 RET NM_020975.4(RET): c.2304G> C (p.Glu768Asp) single nucleotide variant Pathogenic/Likely pathogenic rs78014899 GRCh37 Chromosome 10, 43613840: 43613840
14 RET NM_020975.4(RET): c.2304G> C (p.Glu768Asp) single nucleotide variant Pathogenic/Likely pathogenic rs78014899 GRCh38 Chromosome 10, 43118392: 43118392
15 RET NM_020975.4(RET): c.1826G> A (p.Cys609Tyr) single nucleotide variant Pathogenic rs77939446 GRCh37 Chromosome 10, 43609070: 43609070
16 RET NM_020975.4(RET): c.1826G> A (p.Cys609Tyr) single nucleotide variant Pathogenic rs77939446 GRCh38 Chromosome 10, 43113622: 43113622
17 RET NM_020975.4(RET): c.2372A> T (p.Tyr791Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs77724903 GRCh37 Chromosome 10, 43613908: 43613908
18 RET NM_020975.4(RET): c.2372A> T (p.Tyr791Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs77724903 GRCh38 Chromosome 10, 43118460: 43118460
19 RET NM_020975.4(RET): c.2671T> G (p.Ser891Ala) single nucleotide variant Pathogenic rs75234356 GRCh37 Chromosome 10, 43615592: 43615592
20 RET NM_020975.4(RET): c.2671T> G (p.Ser891Ala) single nucleotide variant Pathogenic rs75234356 GRCh38 Chromosome 10, 43120144: 43120144
21 MEN1 NM_130799.2(MEN1): c.65T> G (p.Leu22Arg) single nucleotide variant Likely pathogenic rs104894256 GRCh37 Chromosome 11, 64577517: 64577517
22 MEN1 NM_130799.2(MEN1): c.65T> G (p.Leu22Arg) single nucleotide variant Likely pathogenic rs104894256 GRCh38 Chromosome 11, 64810045: 64810045
23 MEN1 NM_130799.2(MEN1): c.402delC (p.Phe134Leufs) deletion Pathogenic rs397515385 GRCh37 Chromosome 11, 64577180: 64577180
24 MEN1 NM_130799.2(MEN1): c.402delC (p.Phe134Leufs) deletion Pathogenic rs397515385 GRCh38 Chromosome 11, 64809708: 64809708
25 MEN1 NM_000244.3(MEN1): c.608G> A (p.Trp203Ter) single nucleotide variant Pathogenic rs104894258 GRCh37 Chromosome 11, 64575424: 64575424
26 MEN1 NM_000244.3(MEN1): c.608G> A (p.Trp203Ter) single nucleotide variant Pathogenic rs104894258 GRCh38 Chromosome 11, 64807952: 64807952
27 MEN1 NM_130799.2(MEN1): c.1024delG (p.Ala342Argfs) deletion Pathogenic GRCh37 Chromosome 11, 64573731: 64573731
28 MEN1 NM_130799.2(MEN1): c.1024delG (p.Ala342Argfs) deletion Pathogenic GRCh38 Chromosome 11, 64806259: 64806259
29 MEN1 NM_130799.2(MEN1): c.1087_1089delGAG (p.Glu363del) deletion Pathogenic rs869025185 GRCh38 Chromosome 11, 64805731: 64805733
30 MEN1 NM_130799.2(MEN1): c.1087_1089delGAG (p.Glu363del) deletion Pathogenic rs869025185 GRCh37 Chromosome 11, 64573203: 64573205
31 MEN1 NM_130799.2(MEN1): c.1306T> A (p.Trp436Arg) single nucleotide variant Pathogenic rs104894259 GRCh37 Chromosome 11, 64572550: 64572550
32 MEN1 NM_130799.2(MEN1): c.1306T> A (p.Trp436Arg) single nucleotide variant Pathogenic rs104894259 GRCh38 Chromosome 11, 64805078: 64805078
33 MEN1 NM_130799.2(MEN1): c.1307G> A (p.Trp436Ter) single nucleotide variant Pathogenic rs104894260 GRCh37 Chromosome 11, 64572549: 64572549
34 MEN1 NM_130799.2(MEN1): c.1307G> A (p.Trp436Ter) single nucleotide variant Pathogenic rs104894260 GRCh38 Chromosome 11, 64805077: 64805077
35 MEN1 NM_130799.2(MEN1): c.1579C> T (p.Arg527Ter) single nucleotide variant Pathogenic rs104894261 GRCh37 Chromosome 11, 64572060: 64572060
36 MEN1 NM_130799.2(MEN1): c.1579C> T (p.Arg527Ter) single nucleotide variant Pathogenic rs104894261 GRCh38 Chromosome 11, 64804588: 64804588
37 MEN1 NM_130799.2(MEN1): c.778C> T (p.Gln260Ter) single nucleotide variant Pathogenic rs104894266 GRCh37 Chromosome 11, 64575029: 64575029
38 MEN1 NM_130799.2(MEN1): c.778C> T (p.Gln260Ter) single nucleotide variant Pathogenic rs104894266 GRCh38 Chromosome 11, 64807557: 64807557
39 MEN1 NM_130799.2(MEN1): c.1378C> T (p.Arg460Ter) single nucleotide variant Pathogenic rs104894267 GRCh37 Chromosome 11, 64572261: 64572261
40 MEN1 NM_130799.2(MEN1): c.1378C> T (p.Arg460Ter) single nucleotide variant Pathogenic rs104894267 GRCh38 Chromosome 11, 64804789: 64804789
41 MEN1 NM_130799.2(MEN1): c.249_252delGTCT (p.Ile85Serfs) deletion Pathogenic rs587776841 GRCh37 Chromosome 11, 64577330: 64577333
42 MEN1 NM_130799.2(MEN1): c.249_252delGTCT (p.Ile85Serfs) deletion Pathogenic rs587776841 GRCh38 Chromosome 11, 64809858: 64809861
43 MEN1 NM_000244.3(MEN1): c.778G> A (p.Glu260Lys) single nucleotide variant Pathogenic rs104894268 GRCh37 Chromosome 11, 64575044: 64575044
44 MEN1 NM_000244.3(MEN1): c.778G> A (p.Glu260Lys) single nucleotide variant Pathogenic rs104894268 GRCh38 Chromosome 11, 64807572: 64807572
45 MEN1 NM_000244.3(MEN1): c.566T> A (p.Val189Glu) single nucleotide variant Pathogenic rs104894262 GRCh37 Chromosome 11, 64575466: 64575466
46 MEN1 NM_000244.3(MEN1): c.566T> A (p.Val189Glu) single nucleotide variant Pathogenic rs104894262 GRCh38 Chromosome 11, 64807994: 64807994
47 MEN1 NM_130799.2(MEN1): c.415C> G (p.His139Asp) single nucleotide variant Pathogenic rs104894263 GRCh37 Chromosome 11, 64577167: 64577167
48 MEN1 NM_130799.2(MEN1): c.415C> G (p.His139Asp) single nucleotide variant Pathogenic rs104894263 GRCh38 Chromosome 11, 64809695: 64809695
49 MEN1 MEN1, 3-BP DEL, 2641GAA deletion Pathogenic
50 MEN1 MEN1, 4-BP DEL, 4480CAGT deletion Pathogenic

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

7
# 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, 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 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.53 CASR CDC73 CDKN1A CDKN1B CDKN2B FGF2
2
Show member pathways
12.96 CDKN1A CDKN1B CDKN2B GNAS PRKAR1A PYGM
3
Show member pathways
12.81 CDKN1A CDKN1B FGF2 GNAS INS PRL
4 12.57 CDKN1A CDKN1B CDKN2B FGF2 GNAS RET
5
Show member pathways
12.41 CDKN1A CDKN1B CDKN2B CDKN2C FGF2 GNAS
6 12.36 CDC73 CDKN1A CDKN1B CDKN2C
7
Show member pathways
12.2 CDKN1A CDKN1B CDKN2B CDKN2C
8 12.08 CDKN1A CDKN1B CDKN2C MEN1
9 11.91 CDKN1A CDKN1B CDKN2B CDKN2C MEN1
10
Show member pathways
11.84 CDKN1A CDKN1B CDKN2B INS
11 11.8 CDKN1A CDKN1B INS
12 11.76 CDKN1A CDKN1B INS
13 11.72 CDKN1A CDKN1B CDKN2B
14 11.65 CASR CDKN1A GNAS PTH
15 11.6 CDKN1A CDKN1B CDKN2C
16
Show member pathways
11.51 CDKN1A CDKN1B CDKN2B CDKN2C GNAS MEN1
17 11.5 CDKN1A CDKN1B CDKN2B
18 11.33 CDKN1A CDKN1B RET
19 11.3 CDKN1A CDKN1B CDKN2B
20 11.2 GNAS PRKAR1A PTH
21 10.37 GAST SCT

GO Terms for Multiple Endocrine Neoplasia, Type I

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.56 CHGA FGF2 GAST INS PRL PTH
2 transport vesicle GO:0030133 9.33 CHGA GNAS INS
3 extracellular region GO:0005576 9.28 CHGA FGF2 GAST GNAS INS PRL

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.98 CASR CDKN1B FGF2 INS PRL
2 regulation of signaling receptor activity GO:0010469 9.87 FGF2 GAST INS PRL PTH SCT
3 negative regulation of cell proliferation GO:0008285 9.8 CDC73 CDKN1A CDKN1B CDKN2B CDKN2C MEN1
4 cell cycle arrest GO:0007050 9.76 CDKN1A CDKN1B CDKN2B CDKN2C
5 G1/S transition of mitotic cell cycle GO:0000082 9.75 CDKN1A CDKN1B CDKN2C
6 response to organic cyclic compound GO:0014070 9.73 CASR CDKN1A CDKN1B PRL
7 negative regulation of epithelial cell proliferation GO:0050680 9.71 CDC73 CDKN1B CDKN2B MEN1
8 negative regulation of G1/S transition of mitotic cell cycle GO:2000134 9.7 CDC73 CDKN1A CDKN2B
9 regulation of cyclin-dependent protein serine/threonine kinase activity GO:0000079 9.67 CDKN1A CDKN1B CDKN2B CDKN2C
10 negative regulation of blood vessel diameter GO:0097756 9.57 CHGA INS
11 obsolete negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0031658 9.55 CDKN2B CDKN2C
12 response to fibroblast growth factor GO:0071774 9.54 CASR PTH
13 hormone-mediated apoptotic signaling pathway GO:0008628 9.51 PTH SST
14 response to drug GO:0042493 9.5 CDKN1A CDKN1B GNAS PRL PTH RET
15 response to parathyroid hormone GO:0071107 9.49 GNAS PTH
16 negative regulation of cyclin-dependent protein kinase activity GO:1904030 9.48 CDKN1A CDKN1B
17 negative regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045736 9.46 CDKN1A CDKN1B CDKN2C MEN1
18 negative regulation of phosphorylation GO:0042326 8.92 CDKN1A CDKN1B CDKN2B CDKN2C
19 G protein-coupled receptor signaling pathway GO:0007186 10.1 CASR GAST GNAS INS PTH SCT

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

# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.55 CASR CDKN1A CDKN1B CDKN2B CDKN2C
2 insulin-like growth factor receptor binding GO:0005159 9.26 GNAS INS
3 cyclin-dependent protein serine/threonine kinase inhibitor activity GO:0004861 9.26 CDKN1A CDKN1B CDKN2B CDKN2C
4 hormone activity GO:0005179 9.1 GAST INS PRL PTH SCT SST

Sources for Multiple Endocrine Neoplasia, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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