MCID: MLT042
MIFTS: 61

Multiple Endocrine Neoplasia Type 2a malady

Gastrointestinal diseases, Endocrine diseases, Cancer diseases categories

Summaries for Multiple Endocrine Neoplasia Type 2a

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 thyroiditis and thyroid medullary carcinoma. An important gene associated with Multiple Endocrine Neoplasia Type 2a is RET (ret proto-oncogene), and among its related pathways are Signaling events mediated by VEGFR1 and VEGFR2 and G-protein signaling H-RAS regulation pathway. The compounds guanethidine and forskolin have been mentioned in the context of this disorder. Affiliated tissues include thyroid, adrenal gland and skin, and related mouse phenotypes are embryogenesis and integument.

Description from OMIM:46 171400

Aliases & Classifications for Multiple Endocrine Neoplasia Type 2a

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42NIH Rare Diseases, 48Orphanet, 20GeneTests, 22GTR, 60UMLS, 44Novoseek, 46OMIM, 26ICD10 via Orphanet, 61UMLS via Orphanet, 35MESH via Orphanet
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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 2a:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

multiple endocrine neoplasia type 2a 42 20 22 48 60
sipple syndrome 42 48
ptc syndrome 42 48
men 2a 42 44
pheochromocytoma and amyloid producing medullary thyroid carcinoma 42
multiple endocrine neoplasia iia 46
men-2a syndrome 42
men2a 48


External Ids:

ICD10 via Orphanet26 D44.8
UMLS via Orphanet61 C0025268
OMIM46 171400
MESH via Orphanet35 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 110)
idRelated DiseaseScoreTop Affiliating Genes
1thyroiditis31.7CALCA
2thyroid medullary carcinoma31.5CALCA, RET, GDNF, GFRA1, TFF1, VHL
3familial medullary thyroid carcinoma31.3GDNF
4pheochromocytoma31.3VHL, RET
5hirschsprung's disease31.1RET, GFRA1, GDNF
6hyperparathyroidism31.0RET, CALCA, NF1
7primary hyperparathyroidism30.9CALCA, RET
8papillary carcinoma30.9CALCA, ACTC1, RET
9thyroid cancer30.9CALCA, RET, NRP1
10phaeochromocytoma30.8RET, CALCA
11neuroblastoma30.4SLC6A2
12parathyroid carcinoma30.4RET
13gastrointestinal stromal tumor30.4NF1, ACTC1
14paraganglioma30.4RET, NF1, CALCA, VHL
15adenoma30.4SHC1, NRP1, CALCA, ANXA5, VHL, GDNF
16acute leukemia30.0NF1, SHC1
17leukemia30.0GFRA1, NRP1, GDNF, SHC1, NF1, ANXA5
18renal agenesis29.9RET, GDNF, GFRA1
19wermer syndrome29.9RET, NF1, VHL
20amyloidosis10.8
21papillary thyroid carcinoma10.6
22cushing's syndrome10.3
23sipple syndrome10.3
24alveolar rhabdomyosarcoma10.3
25acromegaly10.3
26gestational diabetes10.3
27adult syndrome10.3
28papillary adenoma10.3
29cell type cancer10.3
30cervicitis10.3
31pancreatitis10.3
32parathyroid adenoma10.3
33rhabdomyosarcoma10.3
34glucose intolerance10.0
35adrenal carcinoma10.0
36lymphoblastic leukemia10.0
37pulmonary edema10.0
38image syndrome10.0
39neuroendocrine tumor10.0CALCA
40ganglioneuroma10.0RET
41central hypoventilation syndrome10.0GDNF
42wdha syndrome10.0CALCA
43hypertension10.0CALCA
44somatostatinoma10.0CALCA
45motor neuron disease10.0GDNF
46multiple system atrophy10.0GDNF
47teratoma10.0ACTC1
48cherubism10.0CALCA
49endometrial carcinoma10.0TFF1
50parkinson's disease10.0GDNF

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



Diseases related to multiple endocrine neoplasia type 2a

Clinical Features for Multiple Endocrine Neoplasia Type 2a

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46OMIM
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Clinical features from OMIM:

171400

Clinical synopsis from OMIM:

171400

Drugs & Therapeutics for Multiple Endocrine Neoplasia Type 2a

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

Search CenterWatch for Multiple Endocrine Neoplasia Type 2a

Drug clinical trials:

Search ClinicalTrials for Multiple Endocrine Neoplasia Type 2a

Search NIH Clinical Center for Multiple Endocrine Neoplasia Type 2a

Search CenterWatch 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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32MalaCards
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MalaCards organs/tissues related to Multiple Endocrine Neoplasia Type 2a:

32
Thyroid, Adrenal gland, Skin

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

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36MGI
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MGI Mouse Phenotypes related to Multiple Endocrine Neoplasia Type 2a:

36 (show all 15)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053809.6GFRA1, RET, VHL
2MP:00107718.9CALCA, SHC1, SLC6A2
3MP:00053818.7VHL, GFRA1, RET, GDNF, TFF1
4MP:00053678.3VHL, NF1, GFRA1, RET, GDNF, CALCA
5MP:00036318.1NRP1, NF1, GDNF, RET, GFRA1, SLC6A2
6MP:00020068.0CALCA, VHL, NF1, RET, TFF1, SHC1
7MP:00053697.5RET, GFRA1, GDNF, SHC1, NF1, VHL
8MP:00053857.1SHC1, GDNF, NRP1, CALCA, VHL, ACTC1
9MP:00053867.1GFRA1, GDNF, NF1, CALCA, SHC1, RET
10MP:00053767.0SHC1, TFF1, ACTC1, NF1, CALCA, VHL
11MP:00028737.0CALCA, ACTC1, ANXA5, SHC1, NF1, RET
12MP:00053786.9NF1, ACTC1, VHL, SHC1, NRP1, GDNF
13MP:00053846.8ACTC1, GFRA1, RET, GDNF, NF1, SHC1
14MP:00053876.8VHL, NF1, SHC1, GDNF, NRP1, ANXA5
15MP:00107686.6GDNF, CALCA, VHL, SHC1, NRP1, NF1

Publications for Multiple Endocrine Neoplasia Type 2a

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Genetic Variations for Multiple Endocrine Neoplasia Type 2a

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Multiple Endocrine Neoplasia Type 2a:

62 (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

Expression for genes affiliated with Multiple Endocrine Neoplasia Type 2a

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1BioGPS, 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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37NCBI BioSystems Database, 12EMD Millipore, 51QIAGEN
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Pathways related to Multiple Endocrine Neoplasia Type 2a according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
8.7NRP1, SHC1, VHL
2
G-protein signaling H-RAS regulation pathway
Hide members
8.6GFRA1, RET, GDNF, SHC1
3
Hide members
8.6SHC1, GDNF, RET, GFRA1
48.6SHC1, GDNF, RET, GFRA1
5
Hide members
8.5NF1, NRP1, SHC1

Compounds for genes affiliated with Multiple Endocrine Neoplasia Type 2a

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Sources:
44Novoseek, 11DrugBank, 49PharmGKB, 28IUPHAR, 24HMDB, 59Tocris Bioscience, 2BitterDB
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Compounds related to Multiple Endocrine Neoplasia Type 2a according to GeneCards/GeneDecks:

(show top 50)    (show all 61)
idCompoundScoreTop Affiliating Genes
1guanethidine44 1111.1CALCA, SLC6A2
2forskolin44 49 1112.1GDNF, CALCA
3estrogen4410.0SLC6A2, NF1
4mibg449.8CALCA, SLC6A2
5catecholamine449.8GDNF, RET, SLC6A2
61 methyl 4 phenylpyridinium449.8SLC6A2, GDNF
7capsaicin44 2810.7GDNF, ANXA5, CALCA
8cytosine44 2410.7TFF1, VHL, SLC6A2
9succinate449.5VHL, RET, NF1
10glycosaminoglycan449.5GDNF, ACTC1, NRP1
11fluoride449.4ANXA5, CALCA, NF1
12superoxide44 2410.4SHC1, SLC6A2
13aurintricarboxylic acid449.3SHC1, ANXA5
14dopamine44 28 11 2412.2SLC6A2, GFRA1, GDNF, NF1
15heparan sulfate44 2410.2RET, GFRA1, GDNF
16paraffin449.1RET, ACTC1, NF1, TFF1
17gp 130449.1TFF1, SHC1, NRP1
18acetylcholine44 49 28 11 2413.1SHC1, SLC6A2, GDNF, CALCA
19ethanol44 49 11 2412.0SLC6A2, SHC1, TFF1, GDNF
20imatinib44 49 1110.9SHC1, ANXA5, RET, ACTC1
21oligonucleotide448.9GDNF, RET, SLC6A2, NF1, VHL
22cyclic amp44 249.9NRP1, CALCA, GDNF, RET, NF1
23adenylate448.8GDNF, CALCA, NRP1, NF1, SLC6A2
24testosterone44 59 11 2411.8TFF1, CALCA, ACTC1, SHC1, RET
25methionine448.8SHC1, RET, SLC6A2, NF1
26glutamate448.8ANXA5, CALCA, NRP1, GDNF, SLC6A2
27genistein44 28 59 2 11 2413.6RET, GDNF, ANXA5, TFF1, SHC1
28pd 98,059448.6RET, SHC1, ANXA5, GDNF, SLC6A2
29aspartate448.6SLC6A2, NRP1, GDNF, RET, SHC1
30heparin44 28 11 2411.6GFRA1, GDNF, ANXA5, NRP1
31ly294002448.6GDNF, VHL, SHC1, ANXA5, RET
32actinomycin d448.5GDNF, SHC1, TFF1, VHL, ANXA5
33bromodeoxyuridine448.5TFF1, SHC1, ANXA5, GDNF, GFRA1
34wortmannin448.5GDNF, RET, ANXA5, NRP1, SHC1
35nitric oxide44 11 2410.4CALCA, VHL, SHC1, GDNF, NRP1
36progesterone44 59 28 11 2412.4TFF1, NF1, SLC6A2, ACTC1, SHC1
37arginine448.2NRP1, RET, NF1, SHC1, TFF1
38glucose448.2SHC1, TFF1, NRP1, GDNF, SLC6A2, ACTC1
39oxygen44 249.2GDNF, VHL, SHC1, ANXA5, ACTC1
40cysteine448.1SLC6A2, NF1, GDNF, NRP1, TFF1, GFRA1
41atp44 289.0GDNF, NF1, ANXA5, RET, SHC1
42alanine448.0SLC6A2, RET, SHC1, NRP1, NF1, GDNF
43steroid447.9NF1, TFF1, SHC1, NRP1, ACTC1, SLC6A2
44retinoic acid44 248.7GDNF, ANXA5, SHC1, RET, ACTC1, TFF1
45serine447.6SLC6A2, RET, GDNF, NF1, NRP1, SHC1
46vegf447.1TFF1, SHC1, NRP1, ANXA5, GDNF, RET
47lipid447.1GDNF, SLC6A2, GFRA1, RET, NF1, ANXA5
48phosphatidylinositol447.0GFRA1, NRP1, RET, VHL, SHC1, GDNF
49tyrosine446.3GFRA1, VHL, SHC1, NRP1, ANXA5, GDNF
50calcium44 49 11 249.1ANXA5, ACTC1, SLC6A2, RET, GDNF, NF1

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

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

idNameGO IDScoreTop Affiliating Genes
1receptor complexGO:0432359.5GFRA1, NRP1
2axonGO:0304248.6GFRA1, NF1, NRP1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1enteric nervous system developmentGO:0484849.8RET, GDNF
2response to painGO:0482659.8SLC6A2, RET, CALCA
3positive regulation of adenylate cyclase activityGO:0457629.7NF1, CALCA
4negative regulation of osteoclast differentiationGO:0456719.6NF1, CALCA
5metanephros developmentGO:0016569.6GDNF, NF1
6sympathetic nervous system developmentGO:0484859.3GDNF, NF1
7MAPK cascadeGO:0001658.9RET, NF1, SHC1
8heart developmentGO:0075078.6SHC1, NRP1, NF1

Products for genes affiliated with Multiple Endocrine Neoplasia Type 2a

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Multiple Endocrine Neoplasia Type 2a

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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