MEN1
MCID: WRM001
MIFTS: 59

Wermer Syndrome (MEN1) malady

Gastrointestinal, Endocrine, Cancer categories

Summaries for Wermer Syndrome

Sources:
47OMIM, 19GeneReviews, 33MalaCards
See all sources

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MalaCards: Wermer Syndrome, also known as multiple endocrine neoplasia type 1, is related to gastrinoma and primary hyperparathyroidism, and has symptoms including structural anomalies of the pancreas, anomalies of the endocrine glands and hypothalamic-hypophyseal axis anomalies/hypothalamus/pituitary anomalies. An important gene associated with Wermer Syndrome is MEN1 (multiple endocrine neoplasia I), and among its related pathways are Cell Cycle and E2F transcription factor network. The compounds forskolin and pge2 have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, lung and thyroid, and related mouse phenotypes are renal/urinary system and adipose tissue.

Description from OMIM:47 131100

GeneReviews summary for men1

Aliases & Classifications for Wermer Syndrome

Sources:
8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 10DISEASES, 49Orphanet, 45Novoseek, 61UMLS, 9diseasecard, 20GeneTests, 22GTR, 47OMIM, 35MeSH, 57SNOMED-CT, 40NCIt, 27ICD9CM, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer
Anatomical: Gastrointestinal, Endocrine


Characteristics (Orphanet epidemiological data):

49
multiple endocrine neoplasia type 1:
Inheritance: Autosomal dominant,Sporadic; Prevalence: 1-9/100000; Age of onset: Variable; Age of death: Adult


Aliases & Descriptions:

wermer syndrome 8 19 43 10 49
multiple endocrine neoplasia type 1 8 19 43 45 49 61
multiple endocrine neoplasia 1 9 20 22 47
men 1 43 49
multiple endocrine adenomatosis 19
endocrine adenomatosis multiple 43
wermer's syndrome 8
men1 syndrome 19
mea type i 8
men1 19


External Ids:

Disease Ontology8 DOID:10017
OMIM47 131100
MeSH35 D018761
NCIt40 C3225
ICD9CM27 258.01
SNOMED-CT57 190566000, 30664006
MESH via Orphanet36 D018761
ICD10 via Orphanet26 D44.8
SNOMED-CT via Orphanet58 30664006
UMLS via Orphanet62 C0025267

Related Diseases for Wermer Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Wermer Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 148)
idRelated DiseaseScoreTop Affiliating Genes
1gastrinoma31.4PYGM, MEN1, CHGA, SST
2primary hyperparathyroidism31.3PTH, CDC73, CHGA, PRKAR1A, MEN1
3insulinoma31.3MEN1, CHGA, SST
4adenoma31.1GNAS, MEN1, PRKAR1A, CHGA, SST, AIP
5carcinoid syndrome31.0GNAS, MEN1, CHGA, SST
6prolactinoma30.9GNAS, MEN1, PRKAR1A, CHGA, SST, AIP
7pituitary tumors30.9GNAS, MEN1, PRKAR1A, CHGA, SST, AIP
8familial isolated hyperparathyroidism30.8MEN1, CDC73
9parathyroid carcinoma30.8PTH, CDC73, MEN1
10glucagonoma30.8SST, CHGA, MEN1
11neuroendocrine carcinoma30.8MEN1, CHGA, SST
12acromegaly30.7GNAS, MEN1, PRKAR1A, SST, AIP
13cushing's syndrome30.7SST, CHGA, PRKAR1A, MEN1, GNAS
14adrenal adenoma30.6MEN1, PRKAR1A, CHGA
15hypoglycemia30.6PPY, CHGA, SST
16hypercalcemia30.6MEN1, PRKAR1A, CHGA, CDC73, PTH
17pancreatic cholera30.4SST, PPY
18duodenal ulcer30.4SST, PPY
19hyperprolactinemia30.4GNAS, SST
20vipoma30.4MEN1, CHGA, SST
21pancreatic islet cell tumors30.4SST, CHGA, MEN1
22paraganglioma30.4MEN1, CHGA, SST
23gigantism30.4AIP, SST, GNAS
24papillary carcinoma30.4CDKN1B, CHGA, GNAS
25carney complex30.4GNAS, MEN1, PRKAR1A, AIP, CDKN1B
26thyroid cancer30.4GNAS, PRKAR1A, CHGA, SST, CDKN1A, CDKN1B
27mccune albright syndrome30.3PRKAR1A, GNAS
28adenocarcinoma30.3CDKN1B, CDKN1A, SST, CHGA, MEN1, JUND
29hyperinsulinemic hypoglycemia30.2CHGA, SST
30pheochromocytoma30.2GNAS, MEN1, CHGA, SST
31osteomalacia30.1PTH, GNAS
32zollinger-ellison syndrome30.1MEN1, CHGA, SST
33multiple endocrine neoplasia30.1GNAS, MEN1, PRKAR1A, CHGA, CDC73, CDKN1B
34von hippel-lindau disease30.0MEN1
35somatostatinoma30.0CHGA, SST
36atrophic gastritis30.0SST, CHGA, MEN1
37serotonin syndrome30.0MEN1, CHGA, SST
38astrocytoma30.0CDKN1B, CDKN1A, CDKN2B
39multiple endocrine neoplasia type 2a29.8MEN1, CDC73, PTH
40pancreatic endocrine tumors10.9
41duodenal gastrinoma10.5
42thymic carcinoma10.5
43thymic neuroendocrine carcinoma10.5
44pancreatic gastrinoma10.4
45adrenocortical carcinoma10.4
46thymoma10.4
47ependymoma10.4
48thymic endocrine tumor10.4
49stroke, ischemic10.3
50cholera10.3

Graphical network of the top 20 diseases related to Wermer Syndrome:



Diseases related to wermer syndrome

Clinical Features for Wermer Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

131100

Clinical synopsis from OMIM:

131100

Symptoms:

49 (show all 13)
  • structural anomalies of the pancreas
  • anomalies of the endocrine glands
  • hypothalamic-hypophyseal axis anomalies/hypothalamus/pituitary anomalies
  • parathyroids anomalies
  • hyperparathyroidy
  • anomaly of pancreatic hormones
  • hypercalcemia
  • neoplasms/tumors
  • autosomal dominant inheritance
  • xanthomas/lipomas
  • epigastralgia/heartburn/gastric/duodenal ulcer/gastritis
  • thyroid anomalies
  • cortico-adrenal hyperplasia/hypersecretion

Drugs & Therapeutics for Wermer Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Wermer Syndrome

Drug clinical trials:

Search ClinicalTrials for Wermer Syndrome

Search NIH Clinical Center for Wermer Syndrome

Search CenterWatch for Wermer Syndrome

Genetic Tests for Wermer Syndrome

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Wermer Syndrome:

id Genetic test Affiliating Genes
1 Multiple Endocrine Neoplasia Type 120 MEN1
2 Multiple Endocrine Neoplasia, Type 122

Anatomical Context for Wermer Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Wermer Syndrome:

33
Spinal cord, Lung, Thyroid, Pancreatic islet, Pituitary

Animal Models for Wermer Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Wermer Syndrome:

37 (show all 18)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.9GNAS, CHGA, CDC73
2MP:00053759.4CDKN1B, CDKN1A, CDC73, PRKAR1A, GNAS
3MP:00053699.4JUND, MEN1, PRKAR1A, CDC73, CDKN1A
4MP:00053889.2CDKN2C, CDKN1B, CDKN1A, PRKAR1A, GNAS, JUND
5MP:00053829.2GNAS, MEN1, PRKAR1A, CDKN1A, CDKN1B, PTH
6MP:00053799.1CDKN2C, JUND, MEN1, AIP, CDKN2B, CDC73
7MP:00053709.1JUND, GNAS, MEN1, AIP, CDC73, CDKN1A
8MP:00020069.0SF1, MEN1, PRKAR1A, AIP, CDKN2B, CDKN1A
9MP:00107718.8GNAS, AIP, CDKN2B, CDC73, CDKN1A, CDKN1B
10MP:00053808.7JUND, PRKAR1A, AIP, CDC73, PLCB3
11MP:00053898.4JUND, SF1, MEN1, PRKAR1A, CHGA, CDKN2B
12MP:00053858.3JUND, GNAS, MEN1, PRKAR1A, CHGA, AIP
13MP:00053768.3JUND, SF1, GNAS, MEN1, PRKAR1A, AIP
14MP:00053978.2CDKN2B, PRKAR1A, GNAS, JUND, CDC73, CDKN1A
15MP:00053868.1JUND, GNAS, PPY, SST, CDC73, CDKN1A
16MP:00053877.9SST, PRKAR1A, MEN1, GNAS, JUND, CDKN2B
17MP:00053787.8PRKAR1A, MEN1, PPY, GNAS, JUND, CHGA
18MP:00107687.3CHGA, PRKAR1A, MEN1, GNAS, SF1, JUND

Publications for Wermer Syndrome

Sources:
51PubMed
See all sources

Articles related to Wermer Syndrome:

idTitleAuthorsYear
1
Image of the month. Wermer syndrome and Zollinger-Ellison syndrome. (19380653)
2009
2
Bilateral trapped lung with concomitant Wermer's syndrome and cutis laxa. (19012220)
2008
3
A 37-year-old married woman with 3-month history of galactorrhoea and irregular menstrual cycle. Diagnosis: multiple endocrine neoplasia type 1 (MEN 1), also known as Wermer's syndrome. (17921680)
2007
4
Multiple endocrine neoplasia type 1. MEN1-- Wermer syndrome]. (15067750)
2003
5
Perforation of a gastrojejunal ulcer into the pericardium. Complication of Wermer's disease (Zollinger-Ellison syndrome). (4380997)
1967

Genetic Variations for Wermer Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Wermer Syndrome:

63 (show all 90)
id Symbol AA change Variation SNP ID
1MEN1p.Pro12LeuVAR_005425
2MEN1p.Leu22ArgVAR_005426
3MEN1p.Glu26LysVAR_005427rs28931612
4MEN1p.Leu39TrpVAR_005428
5MEN1p.Gly42AspVAR_005429
6MEN1p.Glu45GlyVAR_005430
7MEN1p.His139AspVAR_005432
8MEN1p.His139TyrVAR_005433
9MEN1p.Lys135IleVAR_005434
10MEN1p.Phe144ValVAR_005436
11MEN1p.Ala165ProVAR_005437
12MEN1p.Ala169AspVAR_005438
13MEN1p.Asp177TyrVAR_005441
14MEN1p.Ala181ProVAR_005442
15MEN1p.Glu184AspVAR_005443
16MEN1p.Trp188SerVAR_005444
17MEN1p.Leu228ProVAR_005446
18MEN1p.Ala247ValVAR_005447
19MEN1p.Leu269ProVAR_005449
20MEN1p.Ala289GluVAR_005451
21MEN1p.Leu291ProVAR_005452
22MEN1p.Ala314ProVAR_005453
23MEN1p.Arg319ProVAR_005454
24MEN1p.Ala342AspVAR_005455rs2071312
25MEN1p.Trp346ArgVAR_005456
26MEN1p.Thr349ArgVAR_005457
27MEN1p.Glu364LysVAR_005458
28MEN1p.Ala373AspVAR_005460
29MEN1p.Asp423AsnVAR_005461
30MEN1p.Trp441ArgVAR_005464
31MEN1p.Phe452SerVAR_005465
32MEN1p.Ser560AsnVAR_005467
33MEN1p.Gly161AspVAR_008017
34MEN1p.Cys246ArgVAR_008018
35MEN1p.Glu45LysVAR_039587
36MEN1p.Arg98LeuVAR_039588
37MEN1p.Gly110GluVAR_039589
38MEN1p.His139ProVAR_039590
39MEN1p.His139ArgVAR_039591
40MEN1p.Asp158ValVAR_039592
41MEN1p.Ser159IleVAR_039593
42MEN1p.Ser160PheVAR_039594
43MEN1p.Ala165ThrVAR_039595
44MEN1p.Val167PheVAR_039596
45MEN1p.Cys170ArgVAR_039597
46MEN1p.Leu173ProVAR_039598
47MEN1p.Glu184LysVAR_039599
48MEN1p.Glu184GlnVAR_039600
49MEN1p.His186ArgVAR_039601
50MEN1p.Trp188ArgVAR_039602
51MEN1p.Val220MetVAR_039603
52MEN1p.Gly230ArgVAR_039604
53MEN1p.Arg234LeuVAR_039605
54MEN1p.Val245PheVAR_039606
55MEN1p.Cys246PheVAR_039607
56MEN1p.Cys246TyrVAR_039608
57MEN1p.Ser258ProVAR_039609
58MEN1p.Leu264ArgVAR_039611
59MEN1p.Gly286ArgVAR_039616
60MEN1p.Thr316ProVAR_039619
61MEN1p.His322ArgVAR_039620
62MEN1p.His322TyrVAR_039621
63MEN1p.Pro325LeuVAR_039622
64MEN1p.Pro325ArgVAR_039623
65MEN1p.Ala330ProVAR_039624
66MEN1p.Ala342ProVAR_039625
67MEN1p.Ala347ProVAR_039626
68MEN1p.Ile353AsnVAR_039627
69MEN1p.Tyr358AspVAR_039628
70MEN1p.Arg360TrpVAR_039629
71MEN1p.Asp362HisVAR_039630
72MEN1p.Ile377MetVAR_039631
73MEN1p.Pro378SerVAR_039632
74MEN1p.Ala390ValVAR_039633
75MEN1p.Ala416ProVAR_039634
76MEN1p.Leu419ProVAR_039635
77MEN1p.Arg420ProVAR_039636
78MEN1p.Asp423HisVAR_039637
79MEN1p.Cys426TyrVAR_039638
80MEN1p.Trp428SerVAR_039639
81MEN1p.Ser432ArgVAR_039640
82MEN1p.Trp441CysVAR_039641
83MEN1p.Leu449ProVAR_039642
84MEN1p.Arg532CysVAR_039643
85MEN1p.Pro545SerVAR_039644
86MEN1p.Pro549SerVAR_039645
87MEN1p.Ser560ArgVAR_039647
88MEN1p.Ile147PheVAR_065153
89MEN1p.Leu418ArgVAR_065155
90MEN1p.Trp476CysVAR_065156

Expression for genes affiliated with Wermer Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Wermer Syndrome

Search GEO for disease gene expression data for Wermer Syndrome.

Pathways for genes affiliated with Wermer Syndrome

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG, 4Cell Signaling Technology, 52QIAGEN, 12EMD Millipore
See all sources

Pathways related to Wermer Syndrome according to GeneCards/GeneDecks:

(show all 28)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.1PPP2R5B
210.0CDKN2C, CDKN1B, CDKN1A
39.9CDKN2B, CDKN1A, CDKN1B
49.8CDKN2C, CDKN1B, CDKN1A, MEN1
5
Hide members
9.8CDKN2B, CDKN1A, CDKN1B, CDKN2C
6
Hide members
9.8CDKN2C, CDKN1B, CDKN1A, CDKN2B
7
Hide members
9.7CDC73, CDKN1A, CDKN1B, CDKN2C
89.7PLCB3, CDKN1B, CDKN1A
9
wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)
9.7PRKAR1A, PPP2R5B, GNAS
109.7PRKAR1A, PPP2R5B, GNAS
119.7GNAS, PPP2R5B, PRKAR1A
12
Hide members
9.6CDKN2C, CDKN1B, CDKN1A, CDKN2B, MEN1
13
Cell cycle Cell cycle (generic schema)
Hide members
9.6PPP2R5B, CDKN2B, CDKN1A, CDKN1B
149.6CDKN1B, CDKN1A, CDKN2B, JUND
159.6JUND, AIP, CDKN1A, CDKN1B
16
Hide members
9.5PLCB3, PRKAR1A, GNAS
17
Development A2B receptor- action via G-protein alpha s
Hide members
9.5PLCB3, PRKAR1A, GNAS
18
Hide members
9.5GNAS, PRKAR1A, PLCB3
19
G-protein signaling Ras family GTPases in kinase cascades (scheme)
Hide members
9.5JUND, CDKN1B, PLCB3
20
Hide members
9.4PPP2R5B, CDKN2B, CDKN1A, CDKN1B, CDKN2C
21
Hide members
9.4GNAS, CDKN1A, CDKN1B, PLCB3
22
Development Hedgehog and PTH signaling pathways in bone and cartilage development
Hide members
9.3GNAS, PRKAR1A, PLCB3, PTH
23
Hide members
9.3CDKN1B, CDKN1A, CDKN2B, PRKAR1A, GNAS, PYGM
24
Hide members
9.3PPP2R5B, PRKAR1A, CDKN2B, PLCB3
25
Development Dopamine D2 receptor transactivation of EGFR
Hide members
9.2GNAS, PPP2R5B, PRKAR1A, PLCB3
26
Hide members
9.0PLCB3, CDKN1B, CDKN1A, PPP2R5B, JUND
27
Hide members
8.4JUND, PPP2R5B, PRKAR1A, CDKN2B, CDKN1A, CDKN1B
28
Hide members
7.7GNAS, PPP2R5B, PPY, MEN1, PRKAR1A, SST

Compounds for genes affiliated with Wermer Syndrome

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 29IUPHAR, 60Tocris Bioscience, 24HMDB
See all sources

Compounds related to Wermer Syndrome according to GeneCards/GeneDecks:

(show all 29)
idCompoundScoreTop Affiliating Genes
1forskolin45 50 1112.4PTH, PRKAR1A
2pge24510.3CDKN1A, SST
3111in-pentetreotide4510.2CHGA, SST
4flavopiridol45 1111.2PYGM, CDKN1A, CDKN1B
55-hydroxytryptophan4510.1CHGA
6dexamethasone45 50 29 1113.0JUND, CDKN1B, PTH
7bromodeoxyuridine4510.0CHGA, CDKN1A, CDKN1B, PTH
8rpa 24510.0MEN1, JUND
9octreotide45 60 29 1113.0SST, CHGA, GNAS
10p003459.9CDKN1B, CDKN2B, CHGA
11vitamin d459.8MEN1, PRKAR1A, CHGA, CDKN1A, PTH
12isoproterenol45 1110.8PTH, SST, CHGA, GNAS
13tamoxifen45 50 29 1112.8CHGA, CDKN1A, CDKN1B, PTH
14carbachol45 29 1111.7JUND, CHGA, SST, PTH
1512-o-tetradecanoylphorbol 13-acetate459.7JUND, CHGA, CDKN1A, CDKN1B
16cytarabine45 50 1111.6CDKN1B, CDKN1A, CDKN2B
17pd 98,059459.6CDKN1B, CDKN1A, CDKN2B, JUND
18vegf459.6MEN1, CHGA, SST, CDKN1A, CDKN1B, PTH
19thymidine45 2410.5JUND, GNAS, MEN1, CDKN1A, CDKN1B, PTH
20adenylate459.5PTH, SST, CHGA, PRKAR1A, GNAS
21threonine459.4JUND, GNAS, CDKN2B, CDKN1A, CDKN1B, CDKN2C
22cycloheximide459.4JUND, CHGA, SST, CDKN1A, CDKN1B, PTH
23cyclic amp45 2410.4JUND, GNAS, PRKAR1A, CHGA, CDKN1B, PTH
24arginine459.3PYGM, GNAS, PRKAR1A, CHGA, SST, CDKN1B
25glucose459.3PYGM, GNAS, PRKAR1A, CHGA, SST, CDKN1B
26glutamate459.2JUND, GNAS, PRKAR1A, CHGA, SST, CDKN1B
27retinoic acid45 2410.2JUND, CHGA, SST, CDKN2B, CDKN1A, CDKN1B
28tyrosine458.8PYGM, GNAS, MEN1, CHGA, CDKN2B, CDKN1A
29serine458.7CDKN2C, JUND, SF1, GNAS, MEN1, CHGA

GO Terms for genes affiliated with Wermer Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Wermer Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein complexGO:0432349.3PLCB3, PRKAR1A, MEN1, JUND
2cytosolGO:0058297.6PLCB3, PYGM, GNAS, PPP2R5B, MEN1, PRKAR1A

Biological processes related to Wermer Syndrome according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1cellular response to extracellular stimulusGO:03166810.1CDKN1A, CDKN2B
2negative regulation of cyclin-dependent protein serine/threonine kinase activityGO:04573610.0CDKN1B, CDKN1A, MEN1
3hormone-mediated apoptotic signaling pathwayGO:00862810.0PTH, SST
4negative regulation of phosphorylationGO:04232610.0CDKN2C, CDKN1B, CDKN1A, CDKN2B
5regulation of cyclin-dependent protein serine/threonine kinase activityGO:0000799.9CDKN2B, CDKN1A, CDKN1B, CDKN2C
6mitotic cell cycle arrestGO:0718509.8CDKN1B, CDKN1A
7cell cycle arrestGO:0070509.8MEN1, CDKN2B, CDKN1A, CDKN1B, CDKN2C
8positive regulation of osteoblast differentiationGO:0456699.6JUND, GNAS, MEN1
9negative regulation of cell proliferationGO:0082859.3MEN1, SST, CDKN2B, CDC73, CDKN1A, CDKN1B

Molecular functions related to Wermer Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hormone activityGO:0051799.7PTH, SST, PPY
2cyclin-dependent protein serine/threonine kinase inhibitor activityGO:0048619.5CDKN2C, CDKN1B, CDKN1A, CDKN2B

Products for genes affiliated with Wermer Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Wermer Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet