MCID: MLT042
MIFTS: 70

Multiple Endocrine Neoplasia Type 2a malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Endocrine diseases, Cancer diseases categories
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Summaries for Multiple Endocrine Neoplasia Type 2a

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43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Multiple endocrine neoplasia type 2a (men 2a) is is an inherited disorder caused by mutations in the ret gene. individuals with men 2a are at high risk of developing medullary carcinoma of the thyroid. about 50% will develop pheochromocytoma, a tumor of the adrenal glands which may increase blood pressure. individuals with men 2a are also at increased risk for parathyroid adenoma or hyperplasia (overgrowth of the parathyroid gland). occasionally an itchy skin condition called cutaneous lichen amyloidosis also occurs in people with type 2a disease. the condition is inherited in an autosomal dominant manner. last updated: 2/11/2011

MalaCards: Multiple Endocrine Neoplasia Type 2a, also known as sipple syndrome, is related to multiple endocrine neoplasia and familial medullary thyroid carcinoma. An important gene associated with Multiple Endocrine Neoplasia Type 2a is RET (ret proto-oncogene), and among its related pathways are Neuroscience and Signaling events mediated by VEGFR1 and VEGFR2. The compounds guanethidine and catecholamine have been mentioned in the context of this disorder. Affiliated tissues include thyroid, skin and colon, and related mouse phenotypes are digestive/alimentary and renal/urinary system.

Description from OMIM:47 171400

Aliases & Classifications for Multiple Endocrine Neoplasia Type 2a

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43NIH Rare Diseases, 49Orphanet, 20GeneTests, 22GTR, 62UMLS, 45Novoseek, 47OMIM, 26ICD10 via Orphanet, 63UMLS via Orphanet, 36MESH via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
multiple endocrine neoplasia type 2a:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

multiple endocrine neoplasia type 2a 43 20 22 49 62
sipple syndrome 43 49
ptc syndrome 43 49
men 2a 43 45
pheochromocytoma and amyloid producing medullary thyroid carcinoma 43
multiple endocrine neoplasia iia 47
men-2a syndrome 43
men2a 49


External Ids:

ICD10 via Orphanet26 D44.8
UMLS via Orphanet63 C0025268
OMIM47 171400
MESH via Orphanet36 D018813

Related Diseases for Multiple Endocrine Neoplasia Type 2a

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17GeneCards, 18GeneDecks
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Diseases in the Multiple Endocrine Neoplasia Type 2a family:

Multiple Endocrine Neoplasia Type 4 Multiple Endocrine Neoplasia

Diseases related to Multiple Endocrine Neoplasia Type 2a via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 97)
idRelated DiseaseScoreTop Affiliating Genes
1multiple endocrine neoplasia32.2GDNF, RET, VHL, CALCA, NF1
2familial medullary thyroid carcinoma31.6GDNF
3pheochromocytoma31.5VHL, RET
4hirschsprung's disease31.2GDNF, GFRA1, RET
5hyperparathyroidism31.1RET, CALCA, NF1
6primary hyperparathyroidism31.1RET, CALCA
7thyroid cancer31.0CALCA, RET, SHC1
8phaeochromocytoma31.0CALCA, RET
9thyroid medullary carcinoma30.7GDNF, TFF1, GFRA1, RET, VHL, CALCA
10renal dysplasia30.7GDNF, RET
11parathyroid adenoma30.7RET, CALCA
12cushing's syndrome30.6CALCA, RET
13gastrointestinal stromal tumor30.5NF1, ACTC1
14paraganglioma30.5RET, VHL, CALCA, NF1
15adenoma30.1NRP1, CALCA, VHL, ACTC1, ANXA5, RET
16renal agenesis30.1GDNF, GFRA1, RET
17wermer syndrome30.0RET, VHL, NF1
18leukemia29.8GDNF, GFRA1, SHC1, ANXA5, NRP1, NF1
19thyroiditis11.2
20amyloidosis10.8
21lichen amyloidosis10.8
22papillary thyroid carcinoma10.6
23acromegaly10.3
24alveolar rhabdomyosarcoma10.3
25gestational diabetes10.3
26sipple syndrome10.3
27cervicitis10.3
28neuroblastoma10.3
29pancreatitis10.3
30rhabdomyosarcoma10.3
31notalgia paresthetica10.3
32wdha syndrome10.1CALCA
33central hypoventilation syndrome10.1GDNF
34somatostatinoma10.1CALCA
35cowden disease10.1RET
36cherubism10.1CALCA
37leiomyomatosis10.1VHL
38pancreatic islet cell tumors10.1RET, CALCA
39autosomal dominant disease10.1RET, CALCA
40nodular goiter10.1CALCA, RET
41follicular thyroid carcinoma10.1RET, CALCA
42hypoparathyroidism10.1RET, CALCA
43intestinal obstruction10.1RET, GDNF
44fibromatosis10.1ACTC1, TFF1
45hypothyroidism10.1CALCA, RET
46giant cell tumor10.1ACTC1, CALCA
47thyroid cancer, anaplastic10.1RET, CALCA
48goiter10.1RET, CALCA
49mucoepidermoid carcinoma10.1ACTC1, CALCA
50familial colorectal cancer10.1RET, VHL

Graphical network of the top 20 diseases related to Multiple Endocrine Neoplasia Type 2a:



Diseases related to multiple endocrine neoplasia type 2a

Symptoms for Multiple Endocrine Neoplasia Type 2a

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47OMIM
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Symptoms by clinical synopsis from OMIM:

171400

Clinical features from OMIM:

171400

Drugs & Therapeutics for Multiple Endocrine Neoplasia Type 2a

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Multiple Endocrine Neoplasia Type 2a

Search NIH Clinical Center for Multiple Endocrine Neoplasia Type 2a

Genetic Tests for Multiple Endocrine Neoplasia Type 2a

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20GeneTests, 22GTR
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Genetic tests related to Multiple Endocrine Neoplasia Type 2a:

id Genetic test Affiliating Genes
1 Multiple Endocrine Neoplasia Type 2a20
2 Multiple Endocrine Neoplasia, Type 2a22

Anatomical Context for Multiple Endocrine Neoplasia Type 2a

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33MalaCards
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MalaCards organs/tissues related to Multiple Endocrine Neoplasia Type 2a:

33
Thyroid, Skin, Colon, Adrenal gland, Tongue, Testes, Brain, Ovary, Liver, Kidney

Animal Models for Multiple Endocrine Neoplasia Type 2a or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Multiple Endocrine Neoplasia Type 2a:

37 (show all 17)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.4GDNF, TFF1, GFRA1, RET, VHL
2MP:00053678.3GDNF, GFRA1, RET, VHL, CALCA, NF1
3MP:00020068.0TFF1, SHC1, RET, VHL, CALCA, NF1
4MP:00053797.7GDNF, TFF1, SHC1, RET, VHL, NF1
5MP:00053697.5GDNF, GFRA1, SHC1, RET, ACTC1, VHL
6MP:00107717.5TFF1, GFRA1, SHC1, VHL, CALCA, NF1
7MP:00053977.5NF1, NRP1, VHL, RET, SHC1, GDNF
8MP:00053807.3GFRA1, SHC1, RET, VHL, CALCA, NRP1
9MP:00053867.3GDNF, GFRA1, SHC1, RET, CALCA, NF1
10MP:00053767.1TFF1, SHC1, RET, ACTC1, VHL, CALCA
11MP:00028737.1GFRA1, SHC1, RET, ANXA5, ACTC1, VHL
12MP:00036317.0GDNF, GFRA1, SHC1, RET, CALCA, NRP1
13MP:00053846.9GDNF, GFRA1, SHC1, RET, ACTC1, VHL
14MP:00053786.9GDNF, SHC1, RET, ACTC1, VHL, NRP1
15MP:00053856.8SLC6A2, GDNF, SHC1, RET, ACTC1, VHL
16MP:00053876.8GDNF, GFRA1, SHC1, RET, ANXA5, VHL
17MP:00107686.7GDNF, GFRA1, SHC1, RET, ACTC1, VHL

Publications for Multiple Endocrine Neoplasia Type 2a

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52PubMed
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Articles related to Multiple Endocrine Neoplasia Type 2a:

(show top 50)    (show all 204)
idTitleAuthorsYear
1
Pheochromocytoma in an 8-year-old patient with multiple endocrine neoplasia type 2A: implications for screening. (23868299)
2013
2
Multiple endocrine neoplasia type 2A. (22632891)
2012
3
Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10. (20979234)
2011
4
Diagnosis of multiple endocrine neoplasia type 2A in patients with positive thyroid imaging by iodine-131 metaiodobenzylguanidine scintigraphy. (21825847)
2011
5
Metastatic alveolar rhabdomyosarcoma in multiple endocrine neoplasia type 2A. (20533522)
2010
6
An interesting case of Multiple Endocrine Neoplasia Type 2A. (20931159)
2010
7
Unusual features of medullary thyroid carcinoma in multiple endocrine neoplasia type 2A. (19332941)
2009
8
Multiple endocrine neoplasia type 2a and germ line C634G RET mutation diagnosed in an 80-year-old patient. (19201392)
2009
9
A gastrointestinal stromal tumor in a patient with multiple endocrine neoplasia type 2A and metastatic medullary thyroid cancer to the ovaries. (18996821)
2008
10
A family of multiple endocrine neoplasia type 2A (MEN 2A) with Cys630Tyr RET germline mutation: report of a case. (17527003)
2007
11
Penetrance of inherited medullary thyroid carcinoma and genotype-phenotype correlation in a large multiple endocrine neoplasia type 2A family with C634Y RET mutation. (12746565)
2003
12
Acceptable age for prophylactic surgery in children with multiple endocrine neoplasia type 2a. (12711285)
2003
13
Multiple endocrine neoplasias type 2A and thyroid medullary carcinoma: an interdisciplinary challenge. (12721726)
2003
14
Simultaneous occurrence of papillary intrafollicular and microcarcinomas with bilateral medullary microcarcinoma of the thyroid in a patient with multiple endocrine neoplasia type 2A: report of a case. (12111520)
2002
15
A novel Val648Ile substitution in RET protooncogene observed in a Cys634Arg multiple endocrine neoplasia type 2A kindred presenting with an adrenocorticotropin-producing pheochromocytoma. (12466368)
2002
16
Prophylactic total thyroidectomy in an 8-year-old girl with multiple endocrine neoplasia type 2A. (11393128)
2001
17
Pheochromocytoma in a pregnant woman with multiple endocrine neoplasia type 2a. (11826768)
2001
18
Unusual clinical presentation of a patient with multiple endocrine neoplasia type 2A. (11395220)
2001
19
Molecular genetic diagnostic program of multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma syndromes in Hungary. (11524247)
2001
20
Multiple endocrine neoplasia type 2A with the identical somatic mutation in medullary thyroid carcinoma and pheochromocytoma without germline mutation at the corresponding site in the RET proto-oncogene. (10225670)
1999
21
Brain metastases from medullary thyroid carcinoma in a patient with multiple endocrine neoplasia type 2A. (10595463)
1999
22
A false-positive diagnosis of C-cell hyperplasia in a member of a family with multiple endocrine neoplasia type 2A and familial colonic polyposis. (9591014)
1998
23
Papillary thyroid carcinoma, parathyroid adenoma, and unexplained hypercalcitoninemia: an unusual presentation of multiple endocrine neoplasia type 2A? (9777749)
1998
24
Pheochromocytoma arising from an accessory adrenal gland in a patient with multiple endocrine neoplasia type 2A: transient development of clinical manifestations after hemorrhagic necrosis. (9790266)
1998
25
Risk and penetrance of primary hyperparathyroidism in multiple endocrine neoplasia type 2A families with mutations at codon 634 of the RET proto-oncogene. Groupe D'etude des Tumeurs A Calcitonine. (9467562)
1998
26
The molecular genetics of multiple endocrine neoplasia type 2A and related syndromes. (9046972)
1997
27
A Cys634Gly substitution of the RET proto-oncogene in a family with recurrence of multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis. (9111993)
1997
28
Multiple endocrine neoplasia type 2A in a black South African family. (9137358)
1997
29
A family of multiple endocrine neoplasia type 2A: genetic analysis and clinical features. (8732448)
1996
30
Progress in genetic screening of multiple endocrine neoplasia type 2A: is calcitonin testing obsolete? (7638742)
1995
31
Multiple endocrine neoplasia type 2A, type 2B and familial medullary thyroid carcinoma syndrome]. (8538031)
1995
32
Frequent RET protooncogene mutations in multiple endocrine neoplasia type 2A. (7913936)
1994
33
Direct, non-radioactive detection of mutations in multiple endocrine neoplasia type 2A families. (7915166)
1994
34
A rapid screening method for the detection of mutations in the RET proto-oncogene in multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma families. (7835899)
1994
35
Localisation of the gene for multiple endocrine neoplasia type 2A to a 480 kb region in chromosome band 10q11.2. (8098978)
1993
36
A new polymorphic marker (D10S97) tightly linked to the multiple endocrine neoplasia type 2A (MEN2A) locus. (8094065)
1993
37
A cluster of CpG islands at D10S94, near the locus responsible for multiple endocrine neoplasia type 2A (MEN2A). (1351867)
1992
38
Genetic analysis of 24 French families with multiple endocrine neoplasia type 2A. (1353939)
1992
39
Multiple endocrine neoplasia type 2A. (1356524)
1992
40
Prominent corneal nerves in patients with multiple endocrine neoplasia type 2A: diagnostic implications. (1357828)
1992
41
Tl-201 chloride scan in multiple endocrine neoplasia type 2A. (1350236)
1992
42
Genetic diagnosis in multiple endocrine neoplasia type 2A. (1675208)
1991
43
Evaluation of a family at risk for the multiple endocrine neoplasia type 2A (MEN 2A) syndrome. (1677784)
1991
44
Search for the gene for multiple endocrine neoplasia type 2A. (2281187)
1990
45
The natural history of multiple endocrine neoplasia type 2A--a clinical analysis. (1972766)
1990
46
Application of linked DNA markers to screening families with multiple endocrine neoplasia type 2A. (1969807)
1990
47
Screening multiple endocrine neoplasia type 2A families using DNA markers. (2891929)
1988
48
Multiple endocrine neoplasia type 2A: a Northern Ireland and Australian family. (2891640)
1987
49
Progress toward resolving the possible linkage of multiple endocrine neoplasia type 2A to haptoglobin and group-specific loci: use of restriction fragment length polymorphisms extends exclusion region. (2873080)
1986
50
Absence of chromosomal instability in one kindred with multiple endocrine neoplasia type 2A. (2871922)
1986

Variations for Multiple Endocrine Neoplasia Type 2a

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Multiple Endocrine Neoplasia Type 2a:

64 (show all 28)
id Symbol AA change Variation ID SNP ID
1RETp.Cys609TyrVAR_006306rs77939446
2RETp.Cys611TrpVAR_006308rs80069458
3RETp.Cys611TyrVAR_006309
4RETp.Cys618GlyVAR_006310
5RETp.Cys618ArgVAR_006311rs76262710
6RETp.Cys618PheVAR_006312
7RETp.Cys618SerVAR_006313rs79781594
8RETp.Cys618TyrVAR_006314
9RETp.Cys620GlyVAR_006315
10RETp.Cys620ArgVAR_006316
11RETp.Cys620SerVAR_006317
12RETp.Cys620PheVAR_006318rs77503355
13RETp.Cys620TyrVAR_006319
14RETp.Cys630PheVAR_006320
15RETp.Cys634GlyVAR_006323
16RETp.Cys634PheVAR_006324
17RETp.Cys634TyrVAR_006325
18RETp.Cys634ArgVAR_006326
19RETp.Cys634SerVAR_006327
20RETp.Cys634TrpVAR_006328
21RETp.Cys609GlyVAR_009470
22RETp.Cys609ArgVAR_009471rs77558292
23RETp.Cys611ArgVAR_009473
24RETp.Cys611SerVAR_009474
25RETp.Cys620TrpVAR_009475
26RETp.Ala640GlyVAR_009480rs78935588
27RETp.Leu790PheVAR_009482rs75030001
28RETp.Tyr791PheVAR_009483rs77724903

Clinvar genetic disease variations for Multiple Endocrine Neoplasia Type 2a:

1 (show all 26)
id Gene Name Type Significance SNP ID Assembly Location
1RETNM_020975.4(RET): c.1852T> G (p.Cys618Gly)single nucleotide variantPathogenicrs76262710GRCh37Chr 10, 43609096: 43609096
2RETNM_020975.4(RET): c.1896G> C (p.Glu632Asp)single nucleotide variantPathogenicrs387906531GRCh37Chr 10, 43609944: 43609944
3RETNM_020975.4(RET): c.1900T> G (p.Cys634Gly)single nucleotide variantPathogenicrs75076352GRCh37Chr 10, 43609948: 43609948
4RETNM_020975.4(RET): c.1901G> A (p.Cys634Tyr)single nucleotide variantPathogenicrs75996173GRCh37Chr 10, 43609949: 43609949
5RETNM_020975.4(RET): c.1901G> C (p.Cys634Ser)single nucleotide variantPathogenicrs75996173GRCh37Chr 10, 43609949: 43609949
6RETNM_020975.4(RET): c.1901G> T (p.Cys634Phe)single nucleotide variantPathogenicrs75996173GRCh37Chr 10, 43609949: 43609949
7RETNM_020975.4(RET): c.1833C> G (p.Cys611Trp)single nucleotide variantPathogenicrs80069458GRCh37Chr 10, 43609077: 43609077
8RETNM_020975.4(RET): c.1853G> C (p.Cys618Ser)single nucleotide variantPathogenicrs79781594GRCh37Chr 10, 43609097: 43609097
9RETNM_020975.4(RET): c.1858T> C (p.Cys620Arg)single nucleotide variantPathogenicrs77316810GRCh37Chr 10, 43609102: 43609102
10RETNM_020975.4(RET): c.1859G> A (p.Cys620Tyr)single nucleotide variantPathogenicrs77503355GRCh37Chr 10, 43609103: 43609103
11RETNM_020975.4(RET): c.1900T> C (p.Cys634Arg)single nucleotide variantPathogenicrs75076352GRCh37Chr 10, 43609948: 43609948
12RETNM_020975.4(RET): c.1902C> G (p.Cys634Trp)single nucleotide variantPathogenicrs77709286GRCh37Chr 10, 43609950: 43609950
13RETNM_020975.4(RET): c.1859G> T (p.Cys620Phe)single nucleotide variantPathogenicrs77503355GRCh37Chr 10, 43609103: 43609103
14RETNM_020975.4(RET): c.1852T> C (p.Cys618Arg)single nucleotide variantPathogenicrs76262710GRCh37Chr 10, 43609096: 43609096
15RETNM_020975.4(RET): c.2370G> C (p.Leu790Phe)single nucleotide variantPathogenicrs75030001GRCh37Chr 10, 43613906: 43613906
16RETNM_020975.4(RET): c.1919C> G (p.Ala640Gly)single nucleotide variantPathogenic, Uncertain significancers78935588GRCh37Chr 10, 43609967: 43609967
17RETNM_020975.4(RET): c.1942G> A (p.Val648Ile)single nucleotide variantLikely benign, Pathogenic, Uncertain significancers77711105GRCh37Chr 10, 43609990: 43609990
18RETNM_020975.4(RET): c.2671T> G (p.Ser891Ala)single nucleotide variantPathogenicrs75234356GRCh37Chr 10, 43615592: 43615592
19RETNM_020975.4(RET): c.874G> A (p.Val292Met)single nucleotide variantPathogenic, Uncertain significancers34682185GRCh37Chr 10, 43601830: 43601830
20RETNM_020975.4(RET): c.1825T> G (p.Cys609Gly)single nucleotide variantPathogenicrs77558292GRCh37Chr 10, 43609069: 43609069
21RETNM_020975.4(RET): c.1891_1893delGAC (p.Asp631del)deletionPathogenicrs377767435GRCh37Chr 10, 43609939: 43609941
22RETNM_020975.4(RET): c.1891G> T (p.Asp631Tyr)single nucleotide variantPathogenicrs377767406GRCh37Chr 10, 43609939: 43609939
23RETNM_020975.4(RET): c.1892_1903dupACGAGCTGTGCC (p.Cys634_Arg635insHisGluLeuCys)duplicationPathogenicrs377767436GRCh37Chr 10, 43609940: 43609951
24RETNM_020975.4(RET): c.1900_1908dupTGCCGCACG (p.Thr636_Val637insCysArgThr)duplicationPathogenicrs377767437GRCh37Chr 10, 43609948: 43609956
25RETNM_020975.4(RET): c.1826G> C (p.Cys609Ser)single nucleotide variantPathogenicrs77939446GRCh37Chr 10, 43609070: 43609070
26RETNM_020975.4(RET): c.1901_1902delGCinsTG (p.Cys634Leu)indelPathogenicrs377767409GRCh37Chr 10, 43609949: 43609950

Expression for genes affiliated with Multiple Endocrine Neoplasia Type 2a

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Multiple Endocrine Neoplasia Type 2a

Search GEO for disease gene expression data for Multiple Endocrine Neoplasia Type 2a.

Pathways for genes affiliated with Multiple Endocrine Neoplasia Type 2a

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Sources:
50PathCards, 5Cell Signaling Technology, 38NCBI BioSystems Database, 60Thomson Reuters, 53QIAGEN, 55Reactome
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Pathways related to Multiple Endocrine Neoplasia Type 2a according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.2NRP1, VHL, RET
2
Show member pathways
VEGFR1 specific signals38
8.7NRP1, VHL, SHC1
38.7RET, SHC1, GFRA1, GDNF
4
Show member pathways
Development ERBB family signaling60
Development GDNF family signaling60
8.7GDNF, GFRA1, SHC1, RET
58.7GDNF, GFRA1, SHC1, RET

Compounds for genes affiliated with Multiple Endocrine Neoplasia Type 2a

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Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 24HMDB, 51PharmGKB, 61Tocris Bioscience, 3BitterDB
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Compounds related to Multiple Endocrine Neoplasia Type 2a according to GeneCards/GeneDecks:

(show top 50)    (show all 74)
idCompoundScoreTop Affiliating Genes
1guanethidine45 1111.0SLC6A2, CALCA
2catecholamine459.8SLC6A2, GDNF, RET
3capsaicin45 2910.7CALCA, ANXA5, GDNF
4cytosine45 2410.6VHL, TFF1, SLC6A2
5mibg459.5CALCA, SLC6A2
6glycosaminoglycan459.5NRP1, GDNF, ACTC1
7succinate459.5RET, NF1, VHL
8fluoride459.4NF1, CALCA, ANXA5
9heparan sulfate45 2410.4GFRA1, GDNF, RET
10paraffin459.2ACTC1, RET, TFF1, NF1
11forskolin45 51 1111.2SLC6A2, NF1, CALCA, GDNF
12aurintricarboxylic acid459.1ANXA5, SHC1
13nicotine45 29 51 1112.1ANXA5, VHL, SLC6A2
14gp 130459.1NRP1, TFF1, SHC1
15ethanol45 51 24 1112.0SHC1, GDNF, SLC6A2, TFF1
16acetylcholine45 51 29 24 1113.0GDNF, SLC6A2, SHC1, CALCA
17imatinib45 51 1110.9ACTC1, SHC1, RET, ANXA5
18cyclic amp45 249.8RET, CALCA, NRP1, NF1, GDNF
19testosterone45 61 24 1111.8TFF1, SHC1, CALCA, ACTC1, RET
20oligonucleotide458.8GDNF, NF1, RET, VHL, SLC6A2
21heparin45 29 24 1111.8NRP1, GDNF, ANXA5, GFRA1
22glutamate458.8ANXA5, SLC6A2, NRP1, CALCA, GDNF
23methionine458.7RET, NF1, SHC1, SLC6A2
24adenylate458.7CALCA, GDNF, NRP1, NF1, SLC6A2
25genistein45 29 61 3 24 1113.6ANXA5, SHC1, TFF1, GDNF, RET
26dopamine45 29 24 1111.6SLC6A2, NF1, CALCA, RET, GDNF, GFRA1
27pd 98,059458.6SLC6A2, ANXA5, GDNF, SHC1, RET
28aspartate458.6RET, SLC6A2, NRP1, GDNF, SHC1
29superoxide45 249.6SHC1, SLC6A2, ANXA5, GDNF
30bromodeoxyuridine458.5ANXA5, TFF1, SHC1, GFRA1, GDNF
31ly294002458.5VHL, GDNF, SHC1, ANXA5, RET
32actinomycin d458.5ANXA5, SHC1, TFF1, VHL, GDNF
33wortmannin458.4ANXA5, RET, NRP1, SHC1, GDNF
34progesterone45 29 61 24 1112.4TFF1, ACTC1, NF1, SLC6A2, SHC1
35nitric oxide45 24 1110.4NRP1, CALCA, VHL, GDNF, SHC1
36arginine458.3NRP1, SHC1, TFF1, NF1, RET
37oxygen45 249.2VHL, ACTC1, SHC1, GDNF, ANXA5
38atp45 299.1RET, SHC1, ANXA5, NF1, GDNF
39cysteine458.1GDNF, TFF1, GFRA1, RET, NRP1, NF1
40alanine458.0SLC6A2, NF1, NRP1, RET, SHC1, GDNF
41steroid457.9SLC6A2, SHC1, TFF1, NF1, ACTC1, NRP1
42glucose457.8NRP1, VHL, ACTC1, SHC1, GDNF, TFF1
43retinoic acid45 248.7TFF1, ACTC1, NF1, GDNF, ANXA5, RET
44serine457.5SLC6A2, NF1, NRP1, GDNF, SHC1, VHL
45vegf457.1ANXA5, RET, TFF1, ACTC1, VHL, CALCA
46lipid457.1SHC1, RET, ANXA5, NRP1, SLC6A2, GFRA1
47phosphatidylinositol457.0RET, SHC1, GFRA1, GDNF, ANXA5, NF1
48estrogen456.9NF1, NRP1, VHL, CALCA, ACTC1, GDNF
49tyrosine456.3NF1, SHC1, GDNF, GFRA1, SLC6A2, VHL
50calcium45 51 24 119.1ACTC1, VHL, RET, SHC1, TFF1, GDNF

GO Terms for genes affiliated with Multiple Endocrine Neoplasia Type 2a

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16Gene Ontology
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Biological processes related to Multiple Endocrine Neoplasia Type 2a according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1enteric nervous system developmentGO:04848410.0RET, GDNF
2positive regulation of adenylate cyclase activityGO:0457629.8NF1, CALCA
3response to painGO:0482659.8SLC6A2, CALCA, RET
4positive regulation of extrinsic apoptotic signaling pathway in absence of ligandGO:20012419.8NF1, RET
5neural crest cell migrationGO:0017559.8RET, GDNF
6negative regulation of osteoclast differentiationGO:0456719.7NF1, CALCA
7sympathetic nervous system developmentGO:0484859.6NF1, GDNF
8metanephros developmentGO:0016569.5GDNF, NF1
9axon guidanceGO:0074119.2NRP1, GFRA1, GDNF
10response to drugGO:0424939.2SLC6A2, ACTC1, RET
11negative regulation of apoptotic processGO:0430669.1VHL, ACTC1, ANXA5, GDNF
12MAPK cascadeGO:0001659.0SHC1, RET, NF1
13heart developmentGO:0075078.7SHC1, NRP1, NF1

Molecular functions related to Multiple Endocrine Neoplasia Type 2a according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1receptor bindingGO:0051029.5CALCA, GFRA1, GDNF
2protein bindingGO:0055156.5SLC6A2, TFF1, SHC1, RET, VHL, CALCA

Products for genes affiliated with Multiple Endocrine Neoplasia Type 2a

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Sources for Multiple Endocrine Neoplasia Type 2a

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet