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MCID: MLT156
MIFTS: 71

Multiple Endocrine Neoplasia, Type I

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

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Gastrointestinal diseases Endocrine diseases Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare gastroenterological diseases
Rare endocrine diseases


Sources

Summaries for Multiple Endocrine Neoplasia, Type I

About this section
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 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 Somatostatin and Hormones have been mentioned in the context of this disorder. Affiliated tissues include pituitary, pancreas and thyroid, and related phenotypes are hyperparathyroidism and extrahepatic cholestasis

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.

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.

Wikipedia : 76 Multiple endocrine neoplasia type 1 (MEN-1 syndrome) or Wermer\'s syndrome is part of a group of... 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 123)
# Related Disease Score Top Affiliating Genes
1 insulinoma 33.3 CHGA INS MEN1 SCT SST
2 pituitary adenoma, prolactin-secreting 32.6 GNAS MEN1 PRKAR1A PRL SST
3 multiple endocrine neoplasia 31.7 CDKN1B CHGA MEN1 PRKAR1A RET
4 zollinger-ellison syndrome 31.5 CHGA GAST MEN1 SCT SST
5 glucagonoma 31.5 CHGA SCT SST
6 carcinoid syndrome 31.2 CHGA MEN1 SST
7 vipoma 31.0 CHGA GAST SCT SST
8 gastrinoma 31.0 CHGA GAST INS MEN1 SCT SST
9 neuroendocrine tumor 30.8 CHGA GAST MEN1 SDHD SST
10 islet cell tumor 30.8 CHGA GAST INS MEN1 SST
11 duodenitis 30.7 GAST INS
12 pituitary tumors 30.5 GNAS MEN1 PRL SST
13 acromegaly 30.5 GNAS INS MEN1 PRL SST
14 parathyroid carcinoma 30.0 CASR CDC73 MEN1 PTH RET
15 adenoma 29.7 CASR CDC73 GNAS MEN1 PRL RET
16 hyperparathyroidism 29.1 CASR CDC73 CDKN1B CHGA GAST MEN1
17 primary hyperparathyroidism 28.4 CASR CDC73 CDKN1B CHGA GAST MEN1
18 autoimmune atrophic gastritis 11.1 CHGA GAST
19 pancreatic gastrinoma 11.0 MEN1 SCT SST
20 gastrointestinal neuroendocrine benign tumor 11.0 CHGA GAST SST
21 gastric neuroendocrine neoplasm 11.0 CHGA GAST SST
22 hyperparathyroidism 3 11.0 CDC73 MEN1
23 adenoma of the pancreas 11.0 CHGA SST
24 duodenogastric reflux 11.0 GAST SCT SST
25 pylorospasm 11.0 GAST SST
26 pancreatic somatostatinoma 10.9 MEN1 SST
27 dumping syndrome 10.9 INS SCT SST
28 angiodysplasia 10.9 FGF2 SCT SST
29 somatostatinoma 10.9 CHGA INS SST
30 mixed ductal-endocrine carcinoma 10.9 CHGA GAST SST
31 peptic ulcer disease 10.9 GAST MEN1 SCT
32 pancreas disease 10.9 INS SCT SST
33 ectopic cushing syndrome 10.9 MEN1 RET SST
34 parathyroid transitional clear cell adenoma 10.9 MEN1 PTH
35 atrophic gastritis 10.9 CHGA GAST SST
36 gastrointestinal neuroendocrine tumor 10.9 CDKN1A CHGA SST
37 pancreatic cholera 10.9 GAST MEN1 SCT SST
38 hyperparathyroidism 1 10.9 CDC73 MEN1
39 serotonin syndrome 10.9 CHGA GAST MEN1 SST
40 duodenal somatostatinoma 10.8 INS SST
41 pituitary infarct 10.8 PRL SST
42 duodenal ulcer 10.8 GAST INS SCT SST
43 postgastrectomy syndrome 10.8 INS SST
44 retroperitoneal neuroblastoma 10.8 CDKN1A SST
45 pituitary carcinoma 10.8 CHGA PRL SST
46 sclerosing hepatic carcinoma 10.8 CHGA PTH
47 functioning pituitary adenoma 10.8 MEN1 PRL SST
48 tsh producing pituitary tumor 10.8 PRL SST
49 postural hypotension 10.8 INS SST
50 constipation 10.8 GAST RET SST

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

About this section

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 RET SDHD CDKN1B CDKN2C PRKAR1A
2 Decreased viability GR00221-A-2 9.66 RET SDHD PRKAR1A
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 RET CDKN2C
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 RET SDHD CDKN1B CDKN2C PRKAR1A

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 CDC73 CDKN1A CDKN1B CDKN2B CDKN2C CHGA
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 MEN1 PRKAR1A PTH RET SDHD CASR
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 GAST GNAS INS MEN1 PRKAR1A PTH
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 CDKN1B CDKN2B CDKN2C FGF2 GAST GNAS
12 integument MP:0010771 10.19 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
13 embryo MP:0005380 10.17 CDC73 CDKN1A CDKN1B INS MEN1 PRKAR1A
14 muscle MP:0005369 10.17 CDKN1A CDKN1B FGF2 GNAS INS MEN1
15 nervous system MP:0003631 10.15 FGF2 GNAS INS MEN1 PRL RET
16 craniofacial MP:0005382 10.13 CDC73 CDKN1A CDKN1B GNAS MEN1 PRKAR1A
17 adipose tissue MP:0005375 10.09 CDKN1A CDKN1B GNAS INS PRKAR1A CDC73
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 INS MEN1 PRKAR1A PRL RET CDC73
21 no phenotypic analysis MP:0003012 9.92 CDKN2B CHGA GNAS INS RET SST
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
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 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Somatostatin Approved, Investigational Phase 3 38916-34-6, 51110-01-1 53481605
2 Hormones Phase 3
3 Calcimimetic Agents Phase 3
4 Calcium, Dietary Phase 3
5 Cinacalcet Hydrochloride Phase 3
6 Hormone Antagonists Phase 3
7 Hormones, Hormone Substitutes, and Hormone Antagonists 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 Endothelial Growth Factors Phase 2
12 Mitogens 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
Ethanol Approved 64-17-5 702

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Cinacalcet to Treat Familial Primary Hyperparathyroidism Completed NCT00325104 Phase 3
2 Non-functioning Pancreatic Neuroendocrine Tumors in MEN1: Somatostatin Analogs Versus NO Treatment Not yet recruiting NCT02705651 Phase 3 Somatostatin-Analog
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 Genetic Evaluation of Families With Endocrine Cancers Completed NCT01794676
9 Study and Follow-up of Multiple Endocrine Neoplasia Type 1 Recruiting NCT03348501
10 Metabolomics and Genetic Diagnosing Pancreatic Neuroendocrine Tumors in MEN1 Patients Recruiting NCT03048266
11 Studies of Inherited Diseases of Metabolism Recruiting NCT00001345
12 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
13 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
14 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

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:

41
Pituitary, Pancreas, Thyroid, Pancreatic Islet, Bone, Kidney, Spinal Cord
Sources

Publications for Multiple Endocrine Neoplasia, Type I

About this section

Articles related to Multiple Endocrine Neoplasia, Type I:

(show top 50) (show all 532)
# 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
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
4
Genotype-phenotype pancreatic neuroendocrine tumor relationship in multiple endocrine neoplasia type 1 patients: A 23-year experience at a single institution. ( 29122330 )
2018
5
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
6
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
7
Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database. ( 29497973 )
2018
8
Nonfunctional pancreatic endocrine tumor in the peripancreatic region in a Chinese patient with multiple endocrine neoplasia type 1. ( 29239255 )
2018
9
Recent Topics Around Multiple Endocrine Neoplasia Type 1. ( 29897580 )
2018
10
Multiple endocrine neoplasia type 1 and breast cancer. An association to consider. ( 29910161 )
2018
11
Re: Multiple Endocrine Neoplasia Type 1. ( 29677893 )
2018
12
Update on multiple endocrine neoplasia Type 1 and 2. ( 29909163 )
2018
13
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
14
Prognostic value of WHO grade in pancreatic neuro-endocrine tumors in Multiple Endocrine Neoplasia type 1: Results from the DutchMEN1 Study Group. ( 28811081 )
2017
15
Financial burden is associated with worse health-related quality of life in adults with multiple endocrine neoplasia type 1. ( 28923697 )
2017
16
Unilateral Clearance for Primary Hyperparathyroidism in Selected Patients with Multiple Endocrine Neoplasia Type 1: Reply. ( 27847968 )
2017
17
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
18
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
19
Preoperative Imaging Overestimates the Tumor Size in Pancreatic Neuroendocrine Neoplasms Associated with Multiple Endocrine Neoplasia Type 1. ( 29075857 )
2017
20
The LARO-MEN1 study: a longitudinal clinical experience with octreotide Long-Acting Release in patients with Multiple Endocrine Neoplasia type 1 Syndrome. ( 29263719 )
2017
21
Germline and somatic genetic changes in multicentric tumors obtained from a patient with multiple endocrine neoplasia type 1. ( 28503312 )
2017
22
A Case Report of Recurrent Severe Peripartum Cardiomyopathy Complicated by Factor V Leiden and Multiple Endocrine Neoplasia Type 1: A Management Conundrum. ( 29077664 )
2017
23
Multiple endocrine neoplasia type 1 presenting with refractory seizures. ( 29092962 )
2017
24
Multiple Neuroendocrine Tumors in Stomach and Duodenum in a Multiple Endocrine Neoplasia Type 1 Patient. ( 29268593 )
2017
25
Analysis of MEN1 c.482G&amp;gt;A (p.Gly161Asp) mutation in a pedigree with familial multiple endocrine neoplasia type 1. ( 29039523 )
2017
26
Laparoscopic total pancreatectomy for multiple endocrine neoplasia type 1 syndrome-associated multifocal, non-functioning pancreatic neuroendocrine tumor: A case report. ( 28589571 )
2017
27
Long-term outcomes in patients with multiple endocrine neoplasia type 1 and pancreaticoduodenal neuroendocrine tumours. ( 27770475 )
2017
28
Growth rate of small pancreatic neuroendocrine tumors in multiple endocrine neoplasia type 1: results from an endoscopic ultrasound based cohort study. ( 27975336 )
2017
29
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
30
Disease and treatment factors associated with lower quality of life scores in adults with multiple endocrine neoplasia type I. ( 28919050 )
2017
31
Lung adenocarcinoma and adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1. ( 28070481 )
2017
32
Challenging Differential Diagnosis of Hypergastremia and Hyperglucagonemia with Chronic Renal Failure: Report of a Case with Multiple Endocrine Neoplasia Type 1. ( 28566601 )
2017
33
Peptide Receptor Radionuclide Therapy with (177)Lu-DOTATATE for Metastatic Neuroendocrine Tumor Occurring in Association with Multiple Endocrine Neoplasia Type 1 and Cushing's Syndrome. ( 28553179 )
2017
34
Preimplantation genetic diagnosis for a patient with multiple endocrine neoplasia type 1: case report. ( 29266898 )
2017
35
[Intrathyroidal location of parathyroid glands. Atypical presentation of multiple endocrine neoplasia type 1 syndrome]. ( 27955848 )
2017
36
Novel multiple endocrine neoplasia type 1 variations in patients with sporadic primary hyperparathyroidism. ( 27366707 )
2016
37
Operation for insulinomas in multiple endocrine neoplasia type 1: When pancreatoduodenectomy is appropriate. ( 27863775 )
2016
38
Multiple Endocrine Neoplasia Type 1 Presenting as Hypoglycemia due to Insulinoma. ( 27247513 )
2016
39
Pituitary Prolactinoma Imaged by 99mTc-Sestamibi SPECT/CT in a Multiple Endocrine Neoplasia Type 1 Patient. ( 26828146 )
2016
40
Imaging in multiple endocrine neoplasia type 1: recent studies show enhanced sensitivities but increased controversies. ( 26834963 )
2016
41
In Response to the Article Entitled &amp;quot;Unilateral Clearance for Primary Hyperparathyroidism in Selected Patients with Multiple Endocrine Neoplasia Type 1&amp;quot;. ( 27646283 )
2016
42
Reoperative Surgery in Patients with Multiple Endocrine Neoplasia Type 1 Associated Primary Hyperparathyroidism. ( 27464610 )
2016
43
Minimally Invasive Versus Open Pancreatic Surgery in Patients with Multiple Endocrine Neoplasia Type 1. ( 26956903 )
2016
44
Unilateral Clearance for Primary Hyperparathyroidism in Selected Patients with Multiple Endocrine Neoplasia Type 1. ( 27402205 )
2016
45
Concomitant existence of pheochromocytoma in a patient with multiple endocrine neoplasia type 1. ( 27572829 )
2016
46
Management of a multiple endocrine neoplasia type 1 during pregnancy: A case report and review of the literature. ( 28471129 )
2016
47
Multiple endocrine neoplasia type 1 with anterior mediastinal parathyroid adenoma: successful localization using Tc-99m sestamibi SPECT/CT. ( 27904855 )
2016
48
Multiple endocrine neoplasia type 1 associated with a new germline Men1 mutation in a family with atypical tumor phenotype. ( 26732163 )
2016
49
Clinical Features, Treatments, and Outcomes of Patients with Thymic Carcinoids and Multiple Endocrine Neoplasia Type 1 Syndrome at MD Anderson Cancer Center. ( 27311764 )
2016
50
Assessing for multiple endocrine neoplasia type 1 in patients evaluated for Zollinger-Ellison Syndrome - clues to a safer diagnostic process. ( 28011308 )
2016
Sources

Variations for Multiple Endocrine Neoplasia, Type I

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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
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 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
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, Type I:

6
(show top 50) (show all 871)
# 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_020630.4(RET): c.1859G> A (p.Cys620Tyr) single nucleotide variant Pathogenic rs77503355 GRCh37 Chromosome 10, 43609103: 43609103
4 RET NM_020630.4(RET): c.1859G> A (p.Cys620Tyr) single nucleotide variant Pathogenic rs77503355 GRCh38 Chromosome 10, 43113655: 43113655
5 RET NM_020975.4(RET): c.1900T> C (p.Cys634Arg) single nucleotide variant Pathogenic rs75076352 GRCh37 Chromosome 10, 43609948: 43609948
6 RET NM_020975.4(RET): c.1900T> C (p.Cys634Arg) single nucleotide variant Pathogenic rs75076352 GRCh38 Chromosome 10, 43114500: 43114500
7 RET NM_020630.4(RET): c.1902C> G (p.Cys634Trp) single nucleotide variant Pathogenic rs77709286 GRCh37 Chromosome 10, 43609950: 43609950
8 RET NM_020630.4(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_020630.4(RET): c.1852T> C (p.Cys618Arg) single nucleotide variant Pathogenic rs76262710 GRCh37 Chromosome 10, 43609096: 43609096
12 RET NM_020630.4(RET): c.1852T> C (p.Cys618Arg) single nucleotide variant Pathogenic rs76262710 GRCh38 Chromosome 10, 43113648: 43113648
13 RET NM_020630.4(RET): c.2304G> C (p.Glu768Asp) single nucleotide variant Pathogenic/Likely pathogenic rs78014899 GRCh37 Chromosome 10, 43613840: 43613840
14 RET NM_020630.4(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.2671T> G (p.Ser891Ala) single nucleotide variant Pathogenic rs75234356 GRCh37 Chromosome 10, 43615592: 43615592
18 RET NM_020975.4(RET): c.2671T> G (p.Ser891Ala) single nucleotide variant Pathogenic rs75234356 GRCh38 Chromosome 10, 43120144: 43120144
19 MEN1 NM_130799.2(MEN1): c.65T> G (p.Leu22Arg) single nucleotide variant Likely pathogenic rs104894256 GRCh37 Chromosome 11, 64577517: 64577517
20 MEN1 NM_130799.2(MEN1): c.65T> G (p.Leu22Arg) single nucleotide variant Likely pathogenic rs104894256 GRCh38 Chromosome 11, 64810045: 64810045
21 MEN1 NM_130799.2(MEN1): c.402delC (p.Phe134Leufs) deletion Pathogenic rs397515385 GRCh37 Chromosome 11, 64577180: 64577180
22 MEN1 NM_130799.2(MEN1): c.402delC (p.Phe134Leufs) deletion Pathogenic rs397515385 GRCh38 Chromosome 11, 64809708: 64809708
23 MEN1 NM_000244.3(MEN1): c.608G> A (p.Trp203Ter) single nucleotide variant Pathogenic rs104894258 GRCh37 Chromosome 11, 64575424: 64575424
24 MEN1 NM_000244.3(MEN1): c.608G> A (p.Trp203Ter) single nucleotide variant Pathogenic rs104894258 GRCh38 Chromosome 11, 64807952: 64807952
25 MEN1 NM_130799.2(MEN1): c.1024delG (p.Ala342Argfs) deletion Pathogenic GRCh37 Chromosome 11, 64573731: 64573731
26 MEN1 NM_130799.2(MEN1): c.1024delG (p.Ala342Argfs) deletion Pathogenic GRCh38 Chromosome 11, 64806259: 64806259
27 MEN1 NM_130799.2(MEN1): c.1087_1089delGAG (p.Glu363del) deletion Pathogenic rs869025185 GRCh38 Chromosome 11, 64805731: 64805733
28 MEN1 NM_130799.2(MEN1): c.1087_1089delGAG (p.Glu363del) deletion Pathogenic rs869025185 GRCh37 Chromosome 11, 64573203: 64573205
29 MEN1 NM_130799.2(MEN1): c.1306T> A (p.Trp436Arg) single nucleotide variant Pathogenic rs104894259 GRCh37 Chromosome 11, 64572550: 64572550
30 MEN1 NM_130799.2(MEN1): c.1306T> A (p.Trp436Arg) single nucleotide variant Pathogenic rs104894259 GRCh38 Chromosome 11, 64805078: 64805078
31 MEN1 NM_130799.2(MEN1): c.1307G> A (p.Trp436Ter) single nucleotide variant Pathogenic rs104894260 GRCh37 Chromosome 11, 64572549: 64572549
32 MEN1 NM_130799.2(MEN1): c.1307G> A (p.Trp436Ter) single nucleotide variant Pathogenic rs104894260 GRCh38 Chromosome 11, 64805077: 64805077
33 MEN1 NM_130799.2(MEN1): c.1579C> T (p.Arg527Ter) single nucleotide variant Pathogenic rs104894261 GRCh37 Chromosome 11, 64572060: 64572060
34 MEN1 NM_130799.2(MEN1): c.1579C> T (p.Arg527Ter) single nucleotide variant Pathogenic rs104894261 GRCh38 Chromosome 11, 64804588: 64804588
35 MEN1 NM_130799.2(MEN1): c.778C> T (p.Gln260Ter) single nucleotide variant Pathogenic rs104894266 GRCh37 Chromosome 11, 64575029: 64575029
36 MEN1 NM_130799.2(MEN1): c.778C> T (p.Gln260Ter) single nucleotide variant Pathogenic rs104894266 GRCh38 Chromosome 11, 64807557: 64807557
37 MEN1 NM_130799.2(MEN1): c.1378C> T (p.Arg460Ter) single nucleotide variant Pathogenic rs104894267 GRCh37 Chromosome 11, 64572261: 64572261
38 MEN1 NM_130799.2(MEN1): c.1378C> T (p.Arg460Ter) single nucleotide variant Pathogenic rs104894267 GRCh38 Chromosome 11, 64804789: 64804789
39 MEN1 NM_130799.2(MEN1): c.249_252delGTCT (p.Ile85Serfs) deletion Pathogenic rs587776841 GRCh37 Chromosome 11, 64577330: 64577333
40 MEN1 NM_130799.2(MEN1): c.249_252delGTCT (p.Ile85Serfs) deletion Pathogenic rs587776841 GRCh38 Chromosome 11, 64809858: 64809861
41 MEN1 NM_000244.3(MEN1): c.778G> A (p.Glu260Lys) single nucleotide variant Pathogenic rs104894268 GRCh37 Chromosome 11, 64575044: 64575044
42 MEN1 NM_000244.3(MEN1): c.778G> A (p.Glu260Lys) single nucleotide variant Pathogenic rs104894268 GRCh38 Chromosome 11, 64807572: 64807572
43 MEN1 NM_000244.3(MEN1): c.566T> A (p.Val189Glu) single nucleotide variant Pathogenic rs104894262 GRCh37 Chromosome 11, 64575466: 64575466
44 MEN1 NM_000244.3(MEN1): c.566T> A (p.Val189Glu) single nucleotide variant Pathogenic rs104894262 GRCh38 Chromosome 11, 64807994: 64807994
45 MEN1 NM_130799.2(MEN1): c.415C> G (p.His139Asp) single nucleotide variant Pathogenic rs104894263 GRCh37 Chromosome 11, 64577167: 64577167
46 MEN1 NM_130799.2(MEN1): c.415C> G (p.His139Asp) single nucleotide variant Pathogenic rs104894263 GRCh38 Chromosome 11, 64809695: 64809695
47 MEN1 MEN1, IVS4, G-A, -9 single nucleotide variant Pathogenic
48 MEN1 MEN1, 3-BP DEL, 2641GAA deletion Pathogenic
49 MEN1 MEN1, 4-BP DEL, 4480CAGT deletion Pathogenic
50 MEN1 NM_000244.3(MEN1): c.1267G> A (p.Asp423Asn) single nucleotide variant Pathogenic rs104894264 GRCh37 Chromosome 11, 64572604: 64572604

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
Sources

Expression for Multiple Endocrine Neoplasia, Type I

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

Pathways for Multiple Endocrine Neoplasia, Type I

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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 66
Show member pathways
 13.19 CASR CDC73 CDKN1A CDKN1B CDKN2B FGF2
2
DAG and IP3 signaling 66
Show member pathways
 12.96 CDKN1A CDKN1B CDKN2B GNAS PRKAR1A PYGM
3
PI3K-Akt signaling pathway 37
Show member pathways
 12.8 CDKN1A CDKN1B FGF2 GNAS INS PRL
4
Pathways in cancer 37
12.57 CDKN1A CDKN1B CDKN2B FGF2 GNAS RET
5
Aldosterone synthesis and secretion 37
Show member pathways
 12.56 CDKN1A CDKN1B CDKN2B CDKN2C GNAS INS
6
Glioma 37
Show member pathways
 12.4 CDKN1A CDKN1B CDKN2B CDKN2C FGF2 GNAS
7
DNA Damage 4
12.36 CDC73 CDKN1A CDKN1B CDKN2C
8
Cyclins and Cell Cycle Regulation 64
Show member pathways
 12.21 CDKN1A CDKN1B CDKN2B CDKN2C
9
Transcriptional misregulation in cancer 37
12.08 CDKN1A CDKN1B CDKN2C MEN1
10
FoxO signaling pathway 37
Show member pathways
 11.84 CDKN1A CDKN1B CDKN2B INS
11
Senescence and Autophagy in Cancer 1
11.8 CDKN1A CDKN1B INS
12
HIF-1 signaling pathway 37
11.76 CDKN1A CDKN1B INS
13
Small cell lung cancer 37
11.72 CDKN1A CDKN1B CDKN2B
14
Cell cycle 1 37
11.71 CDKN1A CDKN1B CDKN2B CDKN2C MEN1
15
Parathyroid hormone synthesis, secretion and action 37
11.65 CASR CDKN1A GNAS PTH
16
E2F transcription factor network 1
11.59 CDKN1A CDKN1B CDKN2C
17
Validated targets of C-MYC transcriptional repression 1
11.5 CDKN1A CDKN1B CDKN2B
18
Aryl Hydrocarbon Receptor 1
11.33 CDKN1A CDKN1B RET
19
Integrated Cancer Pathway 1
11.3 CDKN1A CDKN1B CDKN2B
20
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 22
11.2 GNAS PRKAR1A PTH
21
Gastric acid production 1
10.37 GAST SCT
Sources

GO Terms for Multiple Endocrine Neoplasia, Type I

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.61 CHGA FGF2 GAST GNAS INS PRL
2 transport vesicle GO:0030133 9.33 CHGA GNAS INS
3 extracellular space GO:0005615 9.23 CHGA FGF2 GAST INS PRL PTH

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.98 CASR CDKN1B FGF2 INS PRL
2 MAPK cascade GO:0000165 9.89 FGF2 INS MEN1 RET
3 regulation of signaling receptor activity GO:0010469 9.87 FGF2 GAST INS PRL PTH SCT
4 response to drug GO:0042493 9.85 CDKN1A CDKN1B GNAS PTH RET SST
5 G1/S transition of mitotic cell cycle GO:0000082 9.8 CDKN1A CDKN1B CDKN2C
6 negative regulation of cell proliferation GO:0008285 9.8 CDC73 CDKN1A CDKN1B CDKN2B CDKN2C MEN1
7 cell cycle arrest GO:0007050 9.73 CDKN1A CDKN1B CDKN2B CDKN2C
8 response to nutrient levels GO:0031667 9.72 INS PRL PTH
9 negative regulation of epithelial cell proliferation GO:0050680 9.71 CDC73 CDKN1B CDKN2B MEN1
10 negative regulation of G1/S transition of mitotic cell cycle GO:2000134 9.69 CDC73 CDKN1A CDKN2B
11 positive regulation of glycogen biosynthetic process GO:0045725 9.62 INS PTH
12 obsolete positive regulation of cAMP biosynthetic process GO:0030819 9.61 GNAS PTH
13 mitotic cell cycle arrest GO:0071850 9.6 CDKN1A CDKN1B
14 negative regulation of blood vessel diameter GO:0097756 9.58 CHGA INS
15 negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0031658 9.56 CDKN2B CDKN2C
16 response to fibroblast growth factor GO:0071774 9.54 CASR PTH
17 hormone-mediated apoptotic signaling pathway GO:0008628 9.49 PTH SST
18 response to parathyroid hormone GO:0071107 9.48 GNAS PTH
19 negative regulation of cyclin-dependent protein kinase activity GO:1904030 9.46 CDKN1A CDKN1B
20 regulation of cyclin-dependent protein serine/threonine kinase activity GO:0000079 9.46 CDKN1A CDKN1B CDKN2B CDKN2C
21 negative regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045736 9.26 CDKN1A CDKN1B CDKN2C MEN1
22 negative regulation of phosphorylation GO:0042326 8.92 CDKN1A CDKN1B CDKN2B CDKN2C
23 G-protein coupled receptor signaling pathway GO:0007186 10.11 CASR GAST GNAS INS PTH SCT
24 negative regulation of apoptotic process GO:0043066 10.01 CDC73 CDKN1A CDKN1B INS RET
25 phosphorylation GO:0016310 10 CDKN1A CDKN1B CDKN2B CDKN2C PRKAR1A RET

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

# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.65 CASR CDKN1A CDKN1B CDKN2B CDKN2C
2 kinase activity GO:0016301 9.63 CDKN1A CDKN1B CDKN2B CDKN2C PRKAR1A RET
3 protein N-terminus binding GO:0047485 9.5 MEN1 PTH SCT
4 cyclin-dependent protein serine/threonine kinase inhibitor activity GO:0004861 9.26 CDKN1A CDKN1B CDKN2B CDKN2C
5 hormone activity GO:0005179 9.1 GAST INS PRL PTH SCT SST
Sources

Sources for Multiple Endocrine Neoplasia, Type I

About this section
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
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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