MCID: MLT136
MIFTS: 68

Multiple Endocrine Neoplasia 1

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

Aliases & Classifications for Multiple Endocrine Neoplasia 1

MalaCards integrated aliases for Multiple Endocrine Neoplasia 1:

Name: Multiple Endocrine Neoplasia 1 54 13
Multiple Endocrine Neoplasia Type 1 12 23 50 24 56 52 42 14 69
Wermer Syndrome 12 23 50 24 56
Men1 23 50 24 56 71
Multiple Endocrine Adenomatosis 23 24
Men1 Syndrome 23 24
Men 1 50 24
Familial Multiple Endocrine Neoplasia Type I 71
Multiple Endocrine Neoplasia, Type 1 29
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;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
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:



Summaries for Multiple Endocrine Neoplasia 1

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

MalaCards based summary : Multiple Endocrine Neoplasia 1, also known as multiple endocrine neoplasia type 1, is related to zollinger-ellison syndrome and pancreatic neuroendocrine tumor, and has symptoms including diarrhea, hyperinsulinemic hypoglycemia and hyperparathyroidism. 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 Histamine and Morphine have been mentioned in the context of this disorder. Affiliated tissues include pituitary, pancreas and breast, and related phenotypes are Decreased viability and homeostasis/metabolism

UniProtKB/Swiss-Prot : 71 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.

OMIM : 54
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)

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 : 72 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 114)
id Related Disease Score Top Affiliating Genes
1 zollinger-ellison syndrome 11.5
2 pancreatic neuroendocrine tumor 11.4
3 vipoma 11.4
4 pancreatic cholera 11.4
5 hyperparathyroidism 3 10.9 CDC73 MEN1
6 childhood intracortical osteosarcoma 10.8 MEN1 PTH
7 bullous impetigo 10.8 CASR PRKAR1A
8 pemphigus foliaceus 10.7 MEN1 SST
9 carcinoma of unknown primary site, childhood 10.7 CHGA MEN1 SST
10 african histoplasmosis 10.7 PRL SST
11 glutamate decarboxylase deficiency 10.7 CHGA SCT SST
12 early-onset parkinson disease 10.7 MEN1 RET SST
13 autoimmune enteropathy 10.7 CHGA GAST
14 small cell sarcoma 10.7 CDKN1A CDKN1B CDKN2B
15 pineal gland cancer 10.7 CHGA PTH
16 combined t cell and b cell immunodeficiency 10.7 PRL SST
17 strabismus 10.7 MEN1 PRL SST
18 mixed cell type adenoma of parathyroid 10.7 CHGA MEN1 PTH
19 endocervical adenocarcinoma 10.7 CDKN1A SST
20 renal pelvis carcinoma 10.7 CHGA GNAS SST
21 tamoxifen-related endometrial lesion 10.7 GAST MEN1 SCT
22 lymphoplasmacytic lymphoma 10.7 MEN1 PRKAR1A RET
23 pandas 10.6 GAST MEN1 SST
24 uterine ligament clear cell adenocarcinoma 10.6 MEN1 PRL SST
25 skin benign neoplasm 10.6 MEN1 PRKAR1A SDHB
26 trabecular follicular adenocarcinoma 10.6 PRKAR1A PRL SST
27 bronchiectasis 10.6 PRKAR1A PRL SST
28 ataxia-oculomotor apraxia 3 10.6 CDKN1B GNAS MEN1 PRKAR1A
29 carcinoid tumors, intestinal 10.6 SDHB SDHD
30 epilepsy idiopathic generalized 8 10.6 CASR GNAS PRKAR1A
31 nutritional optic neuropathy 10.6 GAST SST
32 pituitary adenoma, prolactin-secreting 10.6 GNAS PRL SST
33 persistent hyperplastic primary vitreous 10.6 CHGA GNAS PRKAR1A
34 aicardi-goutieres syndrome 10.6 CDKN1A CHGA
35 neurogenic hypertension 10.6 SDHB SDHD
36 pseudohypoparathyroidism, type ib 10.6 GNAS PRKAR1A PTH
37 methylmalonic acidemia due to transcobalamin receptor defect 10.6 CASR CDC73 PTH
38 autoimmune lymphoproliferative syndrome 10.6 CDKN2B CDKN2C MEN1 SST
39 adrenal cortex disease 10.6 PRKAR1A PRL SST
40 extrahepatic bile duct papillary adenoma 10.6 GAST MEN1 SCT
41 bile duct cystadenocarcinoma 10.6 GAST SCT SST
42 hypocalcemia, autosomal dominant 10.6 CASR PRKAR1A
43 waardenburg syndrome, type 4b 10.6 CASR PRKAR1A PTH
44 primary syphilis 10.6 CHGA GAST SST
45 bone giant cell sarcoma 10.6 CHGA GAST SST
46 mononeuritis of upper limb and mononeuritis multiplex 10.6 GNAS MEN1 PRKAR1A SST
47 hyperparathyroidism-jaw tumor syndrome 10.6 CASR CDC73 MEN1 RET
48 intraocular lymphoma 10.6 CHGA MEN1 SCT SST
49 cold-induced sweating syndrome 2 10.6 GNAS PRL SST
50 coloboma 10.6 GNAS PRKAR1A SST

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 via clinical synopsis from OMIM:

54

Abdomen- Gastroin testinal:
diarrhea
intractable peptic ulcer
zollinger-ellison syndrome
esophagitis

Endocrine Features:
cushing syndrome
parathyroid adenoma
pituitary adenoma
pancreatic islet cell adenoma
adrenocortical adenomas
more
Neoplasia:
carcinoid tumors

Laboratory- Abnormalities:
hypoglycemia
hypercalcemia
elevated acth
abnormal secretin test
elevated gastrin concentration
more
Skin Nails & Hair- Skin:
subcutaneous lipomas
facial angiofibromas
collagenomas
cafe-au-lait macules
confetti-like hypopigmented macules
more

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 (33%) Frequent (79-30%) HP:0002014
2 hyperinsulinemic hypoglycemia 56 32 frequent (33%) Frequent (79-30%) HP:0000825
3 hyperparathyroidism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000843
4 hypercalcemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0003072
5 erythema 56 32 occasional (7.5%) Occasional (29-5%) HP:0010783
6 thyroid adenoma 56 32 frequent (33%) Frequent (79-30%) HP:0000854
7 episodic abdominal pain 56 32 frequent (33%) Frequent (79-30%) HP:0002574
8 parathyroid adenoma 56 32 hallmark (90%) Very frequent (99-80%) HP:0002897
9 parathyroid hyperplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0008208
10 pituitary adenoma 56 32 Frequent (79-30%) HP:0002893
11 zollinger-ellison syndrome 56 32 frequent (33%) Frequent (79-30%) HP:0002044
12 esophagitis 56 32 frequent (33%) Frequent (79-30%) HP:0100633
13 confetti-like hypopigmented macules 56 32 occasional (7.5%) Occasional (29-5%) HP:0007449
14 glucagonoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0030404
15 insulinoma 56 32 frequent (33%) Frequent (79-30%) HP:0012197
16 adrenocortical carcinoma 56 32 very rare (1%) Very rare (<4-1%) HP:0006744
17 peptic ulcer 56 32 frequent (33%) Frequent (79-30%) HP:0004398
18 thymoma 56 32 very rare (1%) Very rare (<4-1%) HP:0100522
19 extrahepatic cholestasis 56 32 occasional (7.5%) Occasional (29-5%) HP:0012334
20 increased glucagon level 56 32 occasional (7.5%) Occasional (29-5%) HP:0030688
21 carcinoid tumor 56 32 occasional (7.5%) Occasional (29-5%) HP:0100570
22 elevated circulating parathyroid hormone level 56 32 hallmark (90%) Very frequent (99-80%) HP:0003165
23 growth hormone excess 56 32 frequent (33%) Frequent (79-30%) HP:0000845
24 subcutaneous lipoma 56 32 frequent (33%) Frequent (79-30%) HP:0001031
25 pituitary prolactin cell adenoma 56 32 frequent (33%) Frequent (79-30%) HP:0006767
26 adrenocortical adenoma 56 32 frequent (33%) Frequent (79-30%) HP:0008256
27 fasting hyperinsulinemia 56 32 frequent (33%) Frequent (79-30%) HP:0008283
28 angiofibromas 56 32 frequent (33%) Frequent (79-30%) HP:0010615
29 pituitary growth hormone cell adenoma 56 32 frequent (33%) Frequent (79-30%) HP:0011760
30 pituitary null cell adenoma 56 32 frequent (33%) Frequent (79-30%) HP:0011761
31 pituitary corticotropic cell adenoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0008291
32 increased urinary cortisol level 56 32 occasional (7.5%) Occasional (29-5%) HP:0012030
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 occasional (7.5%) 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 SDHD CDKN1B CDKN2C PRKAR1A RET
2 Decreased viability GR00221-A-2 9.55 SDHD PRKAR1A RET
3 Decreased viability GR00221-A-3 9.55 PRKAR1A
4 Decreased viability GR00221-A-4 9.55 SDHD PRKAR1A RET
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 PYGM RET SDHD SST CASR CDC73
2 endocrine/exocrine gland MP:0005379 10.44 RET SDHB SDHD CASR CDC73 CDKN1A
3 behavior/neurological MP:0005386 10.39 CASR CDC73 CDKN1A CDKN1B CDKN2C GNAS
4 cardiovascular system MP:0005385 10.35 SDHB SDHD CDC73 CDKN1A CDKN1B CDKN2C
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 RET SDHD CASR CDC73 CDKN1A CDKN1B
9 hematopoietic system MP:0005397 10.25 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C
10 digestive/alimentary MP:0005381 10.2 CASR CDC73 CDKN1A CDKN1B GAST MEN1
11 integument MP:0010771 10.11 CDKN2B CDKN2C GNAS PLCB3 PRL CASR
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 GNAS PYGM RET CASR CDC73 CDKN1A
16 no phenotypic analysis MP:0003012 9.8 CDKN1A CDKN1B CDKN2B GNAS RET SDHB
17 reproductive system MP:0005389 9.65 CDKN1B CDKN2B CDKN2C CHGA MEN1 PRKAR1A
18 respiratory system MP:0005388 9.17 CDC73 CDKN1A CDKN1B CDKN2C GNAS PRKAR1A

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 168)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Histamine Approved, Investigational Phase 4 75614-87-8, 51-45-6 774
2
Morphine Approved, Investigational Phase 4 57-27-2 5288826
3
Vancomycin Approved Phase 4 1404-90-6 441141 14969
4
Anastrozole Approved, Investigational Phase 4,Phase 3,Phase 2 120511-73-1 2187
5
Toremifene Approved, Investigational Phase 4 89778-26-7 3005573
6 Hormones Phase 4,Phase 3,Phase 1,Phase 2
7 Anti-Bacterial Agents Phase 4,Phase 1
8 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
9
Histamine Phosphate Phase 4 51-74-1 65513
10 Antineoplastic Agents, Hormonal Phase 4,Phase 1,Phase 2
11 Aromatase Inhibitors Phase 4,Phase 2,Phase 1
12 Estrogen Antagonists Phase 4,Phase 2,Phase 1
13 Estrogens Phase 4,Phase 3,Phase 2,Phase 1
14 Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2
15 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2
16 Steroid Synthesis Inhibitors Phase 4,Phase 2,Phase 1
17 Bone Density Conservation Agents Phase 4,Phase 2,Phase 1
18 Estrogen Receptor Modulators Phase 4,Phase 2,Phase 1
19 Selective Estrogen Receptor Modulators Phase 4,Phase 2,Phase 1
20 lanreotide Approved Phase 3 108736-35-2
21
Somatostatin Approved Phase 3 38916-34-6, 51110-01-1 53481605
22
Letrozole Approved, Investigational Phase 3,Phase 2,Phase 1 112809-51-5 3902
23
Gemcitabine Approved Phase 3,Phase 2,Phase 1 95058-81-4 60750
24
Exemestane Approved, Investigational Phase 3,Phase 2,Phase 1 107868-30-4 60198
25
Progesterone Approved, Vet_approved Phase 3 57-83-0 5994
26
Tamoxifen Approved Phase 3,Phase 2,Phase 1 10540-29-1 2733526
27 Calcimimetic Agents Phase 3
28 Calcium, Dietary Phase 3
29 Cinacalcet Hydrochloride Phase 3
30 Angiopeptin Phase 3
31 Pharmaceutical Solutions Phase 3,Phase 2
32 Antibodies Phase 3,Phase 1,Phase 2
33 Antibodies, Monoclonal Phase 3,Phase 1,Phase 2
34 Antimetabolites Phase 3,Phase 2,Phase 1
35 Antimetabolites, Antineoplastic Phase 3,Phase 2,Phase 1
36 Antiviral Agents Phase 3,Phase 2,Phase 1
37 Immunoglobulins Phase 3,Phase 1,Phase 2
38 Immunosuppressive Agents Phase 3,Phase 2,Phase 1
39 Deslorelin Phase 3
40 1,4,7,10-tetraazacyclododecane- 1,4,7,10-tetraacetic acid Phase 3
41 Chelating Agents Phase 3
42
Dexamethasone Approved, Investigational, Vet_approved Phase 1, Phase 2 50-02-2 5743
43
Pancrelipase Approved Phase 1, Phase 2 53608-75-6
44
alemtuzumab Approved, Investigational Phase 2 216503-57-0
45
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
46
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
47
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
48
Carboplatin Approved Phase 2,Phase 1 41575-94-4 10339178 498142 38904
49
Paclitaxel Approved, Vet_approved Phase 2,Phase 1 33069-62-4 36314
50 Siltuximab Approved Phase 1, Phase 2 541502-14-1

Interventional clinical trials:

(show top 50) (show all 88)

id Name Status NCT ID Phase Drugs
1 Vancomycin Associated Red Man Syndrome (RMS) Completed NCT00824122 Phase 4
2 Effect and Safety of Oral Vancomycin in Primary Sclerosing Cholangitis Patients Recruiting NCT02605213 Phase 4 Vancomycin;Placebo
3 Adjuvant Endocrine Therapy for Estrogen Receptor-beta Positive Triple Negative Breast Cancer Recruiting NCT02089854 Phase 4 Toremifene; Anastrozole
4 Cinacalcet to Treat Familial Primary Hyperparathyroidism Completed NCT00325104 Phase 3
5 Study of Lanreotide Autogel in Non-functioning Entero-pancreatic Endocrine Tumours Completed NCT00353496 Phase 3 lanreotide (Autogel formulation);Placebo
6 Adjuvant Ribociclib With Endocrine Therapy in Hormone Receptor+/HER2- High Risk Early Breast Cancer Recruiting NCT03078751 Phase 3 Ribociclib;Placebo;Adjuvant endocrine therapy
7 A Study to Compare Treatment After Surgery of Abemaciclib (LY2835219) Combined With Standard Endocrine Therapy Versus Endocrine Therapy Alone in Participants With Breast Cancer Recruiting NCT03155997 Phase 3 Abemaciclib;Standard Adjuvant Endocrine Therapy
8 Non-functioning Pancreatic Neuroendocrine Tumors in MEN1: Somatostatin Analogs Versus NO Treatment Not yet recruiting NCT02705651 Phase 3 Somatostatin-Analog
9 Adjuvant Ribociclib With Endocrine Therapy in Hormone Receptor+/HER2- Intermediate Risk Early Breast Cancer Not yet recruiting NCT03081234 Phase 3 Ribociclib;Placebo;Adjuvant endocrine therapy
10 Phase 3 Trial of 90Y-Clivatuzumab Tetraxetan & Gemcitabine vs Placebo & Gemcitabine in Metastatic Pancreatic Cancer Terminated NCT01956812 Phase 3 IMMU-107;placebo;Gemcitabine
11 Pazopanib Hydrochloride in Treating Patients With Advanced Neuroendocrine Cancer Completed NCT00454363 Phase 2 Pazopanib Hydrochloride
12 Phase 1b/2 Study of Carfilzomib in Relapsed Solid Tumors, Multiple Myeloma, or Lymphoma Completed NCT00531284 Phase 1, Phase 2 Carfilzomib;Dexamethasone
13 A Multi-Center Study of Ibrutinib in Combination With MEDI4736 in Subjects With Relapsed or Refractory Solid Tumors Completed NCT02403271 Phase 1, Phase 2 Ibrutinib;Durvalumab (MEDI4736)
14 QUILT-3.019: Phase 2 Study of NPC-1C Chimeric Monoclonal Antibody to Treat Pancreatic and Colorectal Cancer Completed NCT01040000 Phase 1, Phase 2 NPC-1C/NEO-102
15 A Study of AGS-1C4D4 Given in Combination With Gemcitabine in Subjects With Metastatic Pancreatic Cancer Completed NCT00902291 Phase 2
16 Campath-1H + FK506 and Methylprednisolone for GVHD Completed NCT00109993 Phase 2 methylprednisolone;tacrolimus
17 AZD0530 Phase II Study in Patients With Advanced Ovarian Cancer Completed NCT00610714 Phase 2 AZD0530;Carboplatin;Paclitaxel
18 A Safety, Efficacy and Pharmacokinetic Study of Siltuximab (CNTO 328) in Participants With Solid Tumors Completed NCT00841191 Phase 1, Phase 2 CNTO 328; Anti-interleukin-6 monoclonal antibody;CNTO 328; Anti-interleukin-6 monoclonal antibody;CNTO 328; Anti-interleukin-6 monoclonal antibody;CNTO 328; Anti-interleukin-6 monoclonal antibody;CNTO 328; Anti-interleukin-6 monoclonal antibody;CNTO 328; Anti-interleukin-6 monoclonal antibody;CNTO 328; Anti-interleukin-6 monoclonal antibody
19 A Phase 1/2 Dose Finding Study of an Experimental New Drug CS7017, an Oral PPARγ Agonist Taken by Mouth Twice Daily in Combination With Paclitaxel Chemotherapy Completed NCT00603941 Phase 1, Phase 2 CS7017;Paclitaxel
20 A Study to Determine Safety, Pharmacokinetics and Pharmacodynamics of Intravenous TKM 080301 in Neuroendocrine Tumors (NET) and Adrenocortical Carcinoma (ACC) Patients Completed NCT01262235 Phase 1, Phase 2 TKM-080301
21 Safety and Efficacy Study of Different Doses of 90Y-hPAM4 Combined With Gemcitabine in Pancreatic Cancer Completed NCT00603863 Phase 1, Phase 2
22 TPIV200/huFR-1 (A Multi-Epitope Anti-Folate Receptor Vaccine) Plus Anti-PD-L1 MEDI4736 (Durvalumab) in Patients With Platinum Resistant Ovarian Cancer Recruiting NCT02764333 Phase 2
23 Phase 1/2 Study of LOXO-195 in Patients With Previously Treated NTRK Fusions or Non-fusion NTRK Cancers Recruiting NCT03215511 Phase 1, Phase 2 LOXO-195
24 GL-ONC1 Oncolytic Immunotherapy in Patients With Recurrent Ovarian Cancer Recruiting NCT02759588 Phase 1, Phase 2
25 A Study of Nab-Paclitaxel and Gemcitabine With or Without Olaratumab (LY3012207) in Participants With Metastatic Pancreatic Cancer Recruiting NCT03086369 Phase 1, Phase 2 Olaratumab;Nab-paclitaxel;Gemcitabine;Placebo
26 Fulvestrant 500mg With Exemestane Endocrine Therapy for Postmenopausal Advanced Breast Cancer Patients Recruiting NCT02646735 Phase 2 Fulvestrant 500 mg;Exemestane 25 mg
27 A Study of Multiple Immunotherapy-Based Treatment Combinations in Participants With Metastatic Pancreatic Ductal Adenocarcinoma (Morpheus-Pancreatic Cancer) Recruiting NCT03193190 Phase 1, Phase 2 Nab-Paclitaxel;Gemcitabine;Oxaliplatin;Leucovorin;Fluorouracil;Atezolizumab;Cobimetinib;PEGPH20;BL-8040
28 Endocrine Treatment Alone for Elderly Patients With Estrogen Receptor Positive Operable Breast Cancer and Low Recurrence Score Recruiting NCT02476786 Phase 2 Goserelin;Anastrozole;Exemestane;Fulvestrant;Tamoxifen
29 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 Active, not recruiting NCT02101918 Phase 2
30 Vandetanib to Treat Children and Adolescents With Medullary Thyroid Cancer Active, not recruiting NCT00514046 Phase 1, Phase 2 Vandetanib
31 Sorafenib Tosylate in Treating Patients With Metastatic, Locally Advanced, or Recurrent Medullary Thyroid Cancer Active, not recruiting NCT00390325 Phase 2 Sorafenib Tosylate
32 Neoadjuvant S-1 and Concurrent Radiotherapy for Borderline Resectable Pancreatic Cancer Active, not recruiting NCT02459652 Phase 2 S-1
33 A Multi-center Study of VAL-083 in Patients With Recurrent Platinum Resistant Ovarian Cancer Not yet recruiting NCT03281681 Phase 1, Phase 2 VAL-083, Dianhydrogalactitol
34 A Study of Multiple Immunotherapy-Based Treatment Combinations in Hormone Receptor (HR)-Positive Human Epidermal Growth Factor Receptor 2 (HER2)-Negative Breast Cancer Not yet recruiting NCT03280563 Phase 1, Phase 2 Atezolizumab (MPDL3280A), an engineered anti-programmed death-ligand 1 (PD-L1) antibody;Bevacizumab;Cobimetinib;Exemestane;Fulvestrant;Ipatasertib;Tamoxifen
35 Clinical Evaluation of 18F-DOPA Positron Emission Tomography in Medullary Thyroid Cancer Terminated NCT00647140 Phase 2
36 Study of Anastrozole +/- AZD8931 in Postmenopausal Women With Endocrine Therapy Naive Breast Cancer Terminated NCT01151215 Phase 2 AZD8931;anastrozole;Placebo
37 Adenocarcinoma of the Pancreas Treated With Panitumumab and Gemcitabine Regimen to Investigate Overall Survival as Primary Endpoint Terminated NCT00613730 Phase 2 Gemcitabine;panitumumab
38 Study Of Bosutinib With Capecitabine In Solid Tumors And Locally Advanced Or Metastatic Breast Cancer Terminated NCT00959946 Phase 1, Phase 2 Bosutinib;Capecitabine
39 Lapatinib in Metastatic Breast Cancer Resistant to Hormone Therapy Terminated NCT00225758 Phase 2 Lapatinib
40 Study of Adding AMG 479 to First Line Chemotherapy in Patients With Optimally Debulked Epithelial Ovarian Cancer Terminated NCT00718523 Phase 2 AMG 479;AMG 479 Placebo
41 A Randomized Study of Intraperitoneal tgDCC-E1 and Intravenous Paclitaxel in Women With Platinum-Resistant Ovarian Cancer Withdrawn NCT02157870 Phase 2 Paclitaxel
42 Intravenous Immunoglobulin (IVIg) for the Treatment of Stiff-Man Syndrome (SMS) Completed NCT00001550 Phase 1 IVIg
43 A Phase 1 Trial of NY-ESO-1 With GLA-SE in Patients With Unresectable or Metastatic Cancer Completed NCT02015416 Phase 1
44 PhIb BKM120 or BEZ235+Endocrine Treatment in Post-Menopausal Patients With Hormone Receptor + Metastatic Breast Cancer Completed NCT01248494 Phase 1 BEZ235;BKM 120;Letrozole;BKM120
45 A Phase 1 Study of the Safety and Pharmacokinetics of AGS-8M4 in Subjects With Advanced Ovarian Cancer Completed NCT00816764 Phase 1
46 Safety and Efficacy of FolateScan (Technetium Tc 99m EC20) in Women With Suspected Ovarian or Endometrial Cancer Completed NCT01686256 Phase 1 Tc 99m EC20
47 A Phase 1 Study of Mixed Bacteria Vaccine (MBV) in Patients With Tumors Expressing NY-ESO-1 Antigen Completed NCT00623831 Phase 1
48 Study of Talazoparib, a PARP Inhibitor, in Patients With Advanced or Recurrent Solid Tumors Completed NCT01286987 Phase 1 Talazoparib
49 Trial of ICM With or Without AZD2281 (Olaparib) in Patients With Advanced Pancreatic Cancer Completed NCT01296763 Phase 1 Irinotecan;Cisplatin;Olaparib (for levels 1 and 5);Olaparib (for dose level 2);Mitomycin-C
50 Effects of STM 434 Alone or in Combination With Liposomal Doxorubicin in Patients With Ovarian Cancer or Other Advanced Solid Tumors Completed NCT02262455 Phase 1 STM 434;Liposomal doxorubicin

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, Breast, Thyroid, Bone, Pancreatic Islet, Kidney

Publications for Multiple Endocrine Neoplasia 1

Articles related to Multiple Endocrine Neoplasia 1:

(show all 15)
id Title Authors Year
1
Aggressive adrenal carcinoma in a young patient with Multiple Endocrine Neoplasia 1 syndrome. ( 28625514 )
2017
2
Corneal xanthogranuloma in association with multiple endocrine neoplasia 1: A clinicopathologic case report and review of the literature. ( 26949359 )
2016
3
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
4
An unusual presentation of a patient with multiple endocrine neoplasia- 1. ( 25653982 )
2014
5
Primary hyperparathyroidism in young people. When should we perform genetic testing for multiple endocrine neoplasia 1 (MEN-1)? ( 24731012 )
2014
6
Pancreatic adenocarcinoma in a patient with multiple endocrine neoplasia 1 syndrome. ( 23591436 )
2013
7
Novel association of thymic carcinoid with a germline mutation in a kindred with multiple endocrine neoplasia 1 (MEN1). ( 22549346 )
2012
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
The role of nuclear imaging in multiple endocrine neoplasia 1 (MEN 1). ( 27307880 )
2010
11
Gene symbol: MEN1. Disease: Multiple endocrine neoplasia 1. ( 20960638 )
2008
12
Diffuse gastric carcinoid polyposis in multiple endocrine neoplasia 1 syndrome without hypergastrinemia. ( 17524399 )
2007
13
Thymic carcinoid in multiple endocrine neoplasia 1: genotype-phenotype correlation and prevention. ( 16594911 )
2006
14
Multiple endocrine neoplasia 1--current recommendations for diagnosis and treatment. ( 12089861 )
2002
15
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:

71 (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_130799.2(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 Pathogenic/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 18)
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 12.07 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 11.76 GNAS PLCB3 PYGM
10 11.67 CDKN1A CDKN1B CDKN2B
11 11.58 CDKN1A CDKN1B CDKN2C
12 11.49 CDKN1A CDKN1B CDKN2B
13 11.31 CDKN1A CDKN1B RET
14 11.27 CDKN1A CDKN1B CDKN2B
15 11.24 CASR GNAS PLCB3
16 10.92 CDKN1A CDKN1B GNAS PLCB3
17 10.52 GNAS PLCB3 PRKAR1A PTH
18 10.34 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 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 16)
id Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.8 CDKN1A CDKN1B GNAS PTH RET SST
2 negative regulation of cell proliferation GO:0008285 9.8 CDC73 CDKN1A CDKN1B CDKN2B CDKN2C MEN1
3 cell cycle arrest GO:0007050 9.76 CDKN1A CDKN1B CDKN2B CDKN2C
4 G1/S transition of mitotic cell cycle GO:0000082 9.73 CDKN1A CDKN1B CDKN2C
5 negative regulation of epithelial cell proliferation GO:0050680 9.67 CDC73 CDKN1B CDKN2B MEN1
6 positive regulation of cAMP biosynthetic process GO:0030819 9.65 GNAS PTH SCT
7 negative regulation of G1/S transition of mitotic cell cycle GO:2000134 9.61 CDC73 CDKN1A CDKN2B
8 mitotic cell cycle arrest GO:0071850 9.55 CDKN1A CDKN1B
9 response to fibroblast growth factor GO:0071774 9.52 CASR PTH
10 response to parathyroid hormone GO:0071107 9.51 GNAS PTH
11 hormone-mediated apoptotic signaling pathway GO:0008628 9.49 PTH SST
12 regulation of cyclin-dependent protein serine/threonine kinase activity GO:0000079 9.46 CDKN1A CDKN1B CDKN2B CDKN2C
13 negative regulation of cyclin-dependent protein kinase activity GO:1904030 9.4 CDKN1A CDKN1B
14 negative regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045736 9.26 CDKN1A CDKN1B CDKN2C MEN1
15 negative regulation of phosphorylation GO:0042326 8.92 CDKN1A CDKN1B CDKN2B CDKN2C
16 phosphorylation GO:0016310 10.01 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 9.8 CDKN1A CDKN1B CDKN2B CDKN2C PRKAR1A RET
2 protein kinase binding GO:0019901 9.77 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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