MEN1
MCID: WRM001
MIFTS: 70

Wermer Syndrome (MEN1) malady

Gastrointestinal diseases, Endocrine diseases, Cancer diseases categories

Summaries for Wermer Syndrome

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46OMIM, 19GeneReviews, 32MalaCards
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MalaCards: Wermer Syndrome, also known as multiple endocrine neoplasia type 1, is related to pancreatitis and hyperparathyroidism, and has symptoms including cortico-adrenal hyperplasia/hypersecretion, thyroid anomalies and epigastralgia/heartburn/gastric/duodenal ulcer/gastritis. 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 pituitary, thyroid and pancreatic islet, and related mouse phenotypes are renal/urinary system and adipose tissue.

Description from OMIM:46 131100

GeneReviews summary for men1

Aliases & Classifications for Wermer Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 34MeSH, 56SNOMED-CT, 39NCIt, 27ICD9CM, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 42 10 48
multiple endocrine neoplasia type 1 8 19 42 44 48 60
multiple endocrine neoplasia 1 9 20 22 46
men 1 42 48
multiple endocrine adenomatosis 19
endocrine adenomatosis multiple 42
wermer's syndrome 8
men1 syndrome 19
mea type i 8
men1 19


External Ids:

Disease Ontology8 DOID:10017
OMIM46 131100
MeSH34 D018761
NCIt39 C3225
ICD9CM27 258.01
SNOMED-CT56 190566000, 30664006
MESH via Orphanet35 D018761
ICD10 via Orphanet26 D44.8
SNOMED-CT via Orphanet57 30664006
UMLS via Orphanet61 C0025267

Related Diseases for Wermer Syndrome

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Wermer Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 156)
idRelated DiseaseScoreTop Affiliating Genes
1pancreatitis31.5SST, PPY
2hyperparathyroidism31.4MEN1, PRKAR1A, CHGA, CDC73, CDKN1B, PTH
3gastrinoma31.3PYGM, MEN1, SST, CHGA
4neuroendocrine tumor31.3MEN1, CHGA, SST, GNAS
5primary hyperparathyroidism31.3PRKAR1A, CDC73, PTH, MEN1, CHGA
6insulinoma31.2MEN1, SST, CHGA
7adenoma31.1SST, GNAS, PTH, CHGA, MEN1, AIP
8pituitary adenoma30.9CDKN2B, AIP, CHGA, SST, PRKAR1A, MEN1
9prolactinoma30.8PRKAR1A, MEN1, GNAS, AIP, SST, CHGA
10parathyroid carcinoma30.8CDC73, PTH, MEN1
11neuroendocrine carcinoma30.8CHGA, SST, MEN1
12acromegaly30.7PRKAR1A, SST, AIP, MEN1, GNAS
13multiple endocrine neoplasia30.6GNAS, MEN1, PRKAR1A, CHGA, CDC73, CDKN1B
14adrenal adenoma30.6PRKAR1A, CHGA, MEN1
15hypoglycemia30.5SST, PPY, CHGA
16hypercalcemia30.5CHGA, PRKAR1A, CDC73, PTH, MEN1
17familial isolated hyperparathyroidism30.4CDC73, MEN1
18pancreatic cholera30.3PPY, SST
19duodenal ulcer30.3PPY, SST
20hyperprolactinemia30.3GNAS, SST
21vipoma30.3SST, CHGA, MEN1
22paraganglioma30.3CHGA, SST, MEN1
23gigantism30.3GNAS, SST, AIP
24diabetes mellitus30.3PYGM, PTH, PPY, SST
25papillary carcinoma30.3CDKN1B, CHGA, GNAS
26carney complex30.3MEN1, GNAS, AIP, CDKN1B, PRKAR1A
27cushing's syndrome30.3SST, PRKAR1A, MEN1, GNAS, CHGA
28meningioma30.3CDKN2B, SST, CDKN2C, MEN1
29ovarian cancer30.3CDKN2C, CDKN1B, CDKN1A, JUND
30parathyroid adenoma30.3PRKAR1A, CHGA, CDC73, CDKN1B, CDKN2C, PTH
31thyroid cancer30.3GNAS, CDKN1A, PRKAR1A, SST, PTH, CDKN1B
32breast cancer30.3CDKN1B, CDKN2C, PYGM, JUND, MEN1, PRKAR1A
33melanoma30.3JUND, CDKN1A, CDKN1B, CDKN2B, CDKN2C
34prostate cancer30.3CHGA, CDKN1B, JUND, GNAS, CDKN2C, CDKN2B
35mccune albright syndrome30.2GNAS, PRKAR1A
36adenocarcinoma30.2MEN1, JUND, CHGA, SST, CDKN1B, CDKN1A
37hyperinsulinemic hypoglycemia30.2SST, CHGA
38pancreatic islet cell tumors30.2MEN1, CHGA, SST
39glucagonoma30.2SST, CHGA, MEN1
40pheochromocytoma30.2CHGA, GNAS, MEN1, SST
41carcinoid syndrome30.2CHGA, MEN1, SST, GNAS
42lung cancer30.2CHGA, CDKN1A, SST
43pancreatic cancer30.1MEN1, PPY, CHGA, SST, CDKN1A, CDKN1B
44leukemia30.1MEN1, CDKN2C, JUND, CDKN1A, CDKN1B, CDKN2B
45hepatocellular carcinoma30.1MEN1, CDKN1B, CDKN2C, CDKN1A, CDKN2B, JUND
46osteomalacia30.1PTH, GNAS
47zollinger-ellison syndrome30.1SST, CHGA, MEN1
48gastritis30.1SST, CHGA
49myeloid leukemia30.1CDKN2B, JUND, CDKN1A
50pituitary tumors30.1GNAS, MEN1, PRKAR1A, CHGA, SST, AIP

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



Diseases related to wermer syndrome

Clinical Features for Wermer Syndrome

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

131100

Clinical synopsis from OMIM:

131100

Symptoms:

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

Drugs & Therapeutics for Wermer Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

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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

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Sources:
32MalaCards
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MalaCards organs/tissues related to Wermer Syndrome:

32
Pituitary, Thyroid, Pancreatic islet, Spinal cord, Hypothalamus, Pancreas

Animal Models for Wermer Syndrome or affiliated genes

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Sources:
36MGI
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Publications for Wermer Syndrome

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Sources:
50PubMed
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Articles related to Wermer Syndrome:

idTitleAuthorsYear
1
Image of the month. Wermer syndrome and Zollinger-Ellison syndrome. (19380653)
2009
2
Multiple endocrine neoplasia type 1. MEN1-- Wermer syndrome]. (15067750)
2003

Genetic Variations for Wermer Syndrome

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Wermer Syndrome:

62 (show all 90)
id Symbol AA change Variation ID 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

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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

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Sources:
53Reactome, 37NCBI BioSystems Database, 29KEGG, 4Cell Signaling Technology, 51QIAGEN, 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
210.0CDKN1B, CDKN2C, CDKN1A
39.9CDKN2B, CDKN1B, CDKN1A
49.8CDKN1B, CDKN2C, MEN1, CDKN1A
5
Hide members
9.8CDKN1A, CDKN1B, CDKN2C, CDKN2B
6
Hide members
9.8CDKN2B, CDKN1B, CDKN1A, CDKN2C
7
Hide members
9.7CDKN1B, CDKN2C, CDKN1A, CDC73
89.7CDKN1B, CDKN1A, PLCB3
99.7PRKAR1A, PPP2R5B, GNAS
10
wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)
9.7GNAS, PRKAR1A, PPP2R5B
119.7PPP2R5B, GNAS, PRKAR1A
12
Hide members
9.6CDKN2C, MEN1, CDKN2B, CDKN1A, CDKN1B
13
Cell cycle Cell cycle (generic schema)
Hide members
9.6PPP2R5B, CDKN2B, CDKN1B, CDKN1A
149.6CDKN2B, CDKN1B, JUND, CDKN1A
159.6CDKN1A, AIP, CDKN1B, JUND
16
Hide members
9.5PLCB3, GNAS, PRKAR1A
17
Hide members
9.5PRKAR1A, PLCB3, GNAS
18
Development A2B receptor- action via G-protein alpha s
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
9.4CDKN1B, CDKN2C, CDKN1A, CDKN2B, PPP2R5B
21
Hide members
9.4PLCB3, GNAS, CDKN1B, CDKN1A
22
Development Hedgehog and PTH signaling pathways in bone and cartilage development
Hide members
9.3GNAS, PTH, PRKAR1A, PLCB3
23
Hide members
9.3CDKN1B, CDKN1A, CDKN2B, PRKAR1A, GNAS, PYGM
24
Hide members
9.3PLCB3, PRKAR1A, PPP2R5B, CDKN2B
25
Development Dopamine D2 receptor transactivation of EGFR
Hide members
9.2GNAS, PLCB3, PRKAR1A, PPP2R5B
26
Hide members
9.0CDKN1A, PLCB3, CDKN1B, JUND, PPP2R5B
27
Hide members
8.4CDKN2C, CDKN1B, PLCB3, CDKN1A, CDKN2B, PRKAR1A
28
Hide members
7.7MEN1, GNAS, PTH, PLCB3, CDKN1B, CDKN1A

Compounds for genes affiliated with Wermer Syndrome

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Sources:
44Novoseek, 49PharmGKB, 11DrugBank, 28IUPHAR, 59Tocris Bioscience, 24HMDB
See all sources

Compounds related to Wermer Syndrome according to GeneCards/GeneDecks:

(show all 29)
idCompoundScoreTop Affiliating Genes
1forskolin44 49 1112.4PTH, PRKAR1A
2pge24410.3CDKN1A, SST
3111in-pentetreotide4410.2CHGA, SST
4flavopiridol44 1111.2PYGM, CDKN1A, CDKN1B
55-hydroxytryptophan4410.1CHGA
6dexamethasone44 49 28 1113.0JUND, CDKN1B, PTH
7bromodeoxyuridine4410.0CHGA, CDKN1A, CDKN1B, PTH
8rpa 24410.0MEN1, JUND
9octreotide44 59 28 1113.0SST, CHGA, GNAS
10p003449.9CDKN1B, CDKN2B, CHGA
11vitamin d449.8MEN1, PRKAR1A, CHGA, CDKN1A, PTH
12isoproterenol44 1110.8PTH, SST, CHGA, GNAS
13tamoxifen44 49 28 1112.8CHGA, CDKN1A, CDKN1B, PTH
14carbachol44 28 1111.7JUND, CHGA, SST, PTH
1512-o-tetradecanoylphorbol 13-acetate449.7JUND, CHGA, CDKN1A, CDKN1B
16cytarabine44 49 1111.6CDKN1B, CDKN1A, CDKN2B
17pd 98,059449.6CDKN1B, CDKN1A, CDKN2B, JUND
18vegf449.6MEN1, CHGA, SST, CDKN1A, CDKN1B, PTH
19thymidine44 2410.5JUND, GNAS, MEN1, CDKN1A, CDKN1B, PTH
20adenylate449.5PTH, SST, CHGA, PRKAR1A, GNAS
21threonine449.4JUND, GNAS, CDKN2B, CDKN1A, CDKN1B, CDKN2C
22cycloheximide449.4JUND, CHGA, SST, CDKN1A, CDKN1B, PTH
23cyclic amp44 2410.4JUND, GNAS, PRKAR1A, CHGA, CDKN1B, PTH
24arginine449.3PYGM, GNAS, PRKAR1A, CHGA, SST, CDKN1B
25glucose449.3PYGM, GNAS, PRKAR1A, CHGA, SST, CDKN1B
26glutamate449.2JUND, GNAS, PRKAR1A, CHGA, SST, CDKN1B
27retinoic acid44 2410.2JUND, CHGA, SST, CDKN2B, CDKN1A, CDKN1B
28tyrosine448.8PYGM, GNAS, MEN1, CHGA, CDKN2B, CDKN1A
29serine448.7CDKN2C, JUND, SF1, GNAS, MEN1, CHGA

GO Terms for genes affiliated with Wermer Syndrome

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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Wermer Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet