MCID: MLT042
MIFTS: 48

Multiple Endocrine Neoplasia Type 2a malady

Gastrointestinal, Endocrine, Cancer categories

Summaries for Multiple Endocrine Neoplasia Type 2a

Sources:
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 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:47 171400

Aliases & Classifications for Multiple Endocrine Neoplasia Type 2a

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 26ICD10 via Orphanet, 62UMLS via Orphanet, 36MESH 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 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 61
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 Orphanet62 C0025268
OMIM47 171400
MESH via Orphanet36 D018813

Related Diseases for Multiple Endocrine Neoplasia Type 2a

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Multiple Endocrine Neoplasia Type 2a via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 115)
idRelated DiseaseScoreTop Affiliating Genes
1multiple endocrine neoplasia32.2RET, GDNF, NF1, CALCA, VHL
2thyroid medullary carcinoma31.6VHL, CALCA, TFF1, GDNF, RET, GFRA1
3familial medullary thyroid carcinoma31.4GDNF
4pheochromocytoma31.3RET, VHL
5thyroid cancer31.0CALCA, RET
6primary hyperparathyroidism31.0CALCA, RET
7papillary carcinoma30.9ACTC1, RET, CALCA
8phaeochromocytoma30.9RET, CALCA
9parathyroid carcinoma30.5RET
10hirschsprung's disease30.5GFRA1, RET, GDNF
11gastrointestinal stromal tumor30.5ACTC1, NF1
12paraganglioma30.5VHL, CALCA, NF1, RET
13adenoma30.4VHL, CALCA, TFF1, SHC1, NRP1, ANXA5
14acute leukemia30.0SHC1, NF1
15renal agenesis29.9GFRA1, RET, GDNF
16wermer syndrome29.9VHL, NF1, RET
17n syndrome10.9
18amyloidosis10.8
19lichen amyloidosis10.8
20sipple syndrome10.6
21cushing's syndrome10.4
22alveolar rhabdomyosarcoma10.4
23acromegaly10.4
24gestational diabetes10.4
25adult syndrome10.4
26papillary adenoma10.4
27young syndrome10.4
28kid syndrome10.4
29notalgia paresthetica10.4
30familial papillary thyroid carcinoma10.4
31thyroid adenoma10.4
32renal dysplasia10.4
33anal endocrine tumor10.4
34adrenal medulla carcinoma10.0
35glucose intolerance10.0
36adrenal carcinoma10.0
37hypercholesterolemia10.0
38pulmonary edema10.0
39thyroiditis10.0CALCA
40neuroendocrine tumor10.0CALCA
41ganglioneuroma10.0RET
42central hypoventilation syndrome10.0GDNF
43wdha syndrome10.0CALCA
44hypertension10.0CALCA
45neuroblastoma10.0SLC6A2
46somatostatinoma10.0CALCA
47motor neuron disease10.0GDNF
48multiple system atrophy10.0GDNF
49teratoma10.0ACTC1
50cherubism10.0CALCA

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

Sources:
47OMIM
See all sources

Clinical features from OMIM:

171400

Clinical synopsis from OMIM:

171400

Drugs & Therapeutics for Multiple Endocrine Neoplasia Type 2a

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

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

Sources:
20GeneTests, 22GTR
See all sources

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

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

33
Thyroid, Adrenal gland, Skin

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

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

Publications for Multiple Endocrine Neoplasia Type 2a

Genetic Variations for Multiple Endocrine Neoplasia Type 2a

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Multiple Endocrine Neoplasia Type 2a:

63 (show all 28)
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
38NCBI BioSystems Database, 12EMD Millipore, 52QIAGEN
See all sources

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

Sources:
45Novoseek, 11DrugBank, 50PharmGKB, 29IUPHAR, 24HMDB, 60Tocris 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
1guanethidine45 1111.1CALCA, SLC6A2
2forskolin45 50 1112.1GDNF, CALCA
3estrogen4510.0NF1, SLC6A2
4mibg459.8SLC6A2, CALCA
5catecholamine459.8SLC6A2, RET, GDNF
61 methyl 4 phenylpyridinium459.8SLC6A2, GDNF
7capsaicin45 2910.7CALCA, ANXA5, GDNF
8cytosine45 2410.7SLC6A2, TFF1, VHL
9succinate459.5VHL, NF1, RET
10glycosaminoglycan459.5ACTC1, GDNF, NRP1
11fluoride459.4NF1, ANXA5, CALCA
12superoxide45 2410.4SLC6A2, SHC1
13aurintricarboxylic acid459.3ANXA5, SHC1
14dopamine45 29 11 2412.2NF1, GDNF, GFRA1, SLC6A2
15heparan sulfate45 2410.2GFRA1, RET, GDNF
16paraffin459.1TFF1, NF1, RET, ACTC1
17gp 130459.1TFF1, SHC1, NRP1
18acetylcholine45 50 29 11 2413.1CALCA, SHC1, GDNF, SLC6A2
19ethanol45 50 11 2412.0SLC6A2, GDNF, SHC1, TFF1
20imatinib45 50 1110.9ACTC1, RET, ANXA5, SHC1
21oligonucleotide458.9VHL, NF1, GDNF, RET, SLC6A2
22cyclic amp45 249.9CALCA, NRP1, NF1, GDNF, RET
23adenylate458.8CALCA, NRP1, NF1, GDNF, SLC6A2
24testosterone45 60 11 2411.8ACTC1, RET, SHC1, TFF1, CALCA
25methionine458.8SLC6A2, RET, NF1, SHC1
26glutamate458.8CALCA, NRP1, ANXA5, GDNF, SLC6A2
27genistein45 29 60 2 11 2413.6TFF1, SHC1, ANXA5, GDNF, RET
28pd 98,059458.6SHC1, ANXA5, GDNF, RET, SLC6A2
29aspartate458.6SHC1, NRP1, GDNF, RET, SLC6A2
30heparin45 29 11 2411.6NRP1, ANXA5, GDNF, GFRA1
31ly294002458.6VHL, SHC1, ANXA5, GDNF, RET
32actinomycin d458.5VHL, TFF1, SHC1, ANXA5, GDNF
33bromodeoxyuridine458.5TFF1, SHC1, ANXA5, GDNF, GFRA1
34wortmannin458.5RET, GDNF, ANXA5, NRP1, SHC1
35nitric oxide45 11 2410.4GDNF, NRP1, SHC1, CALCA, VHL
36progesterone45 60 29 11 2412.4ACTC1, SLC6A2, NF1, SHC1, TFF1
37arginine458.2TFF1, SHC1, NRP1, NF1, RET
38glucose458.2TFF1, SHC1, NRP1, GDNF, SLC6A2, ACTC1
39oxygen45 249.2VHL, SHC1, ANXA5, GDNF, ACTC1
40cysteine458.1TFF1, NRP1, NF1, GDNF, RET, GFRA1
41atp45 299.0SHC1, ANXA5, NF1, GDNF, RET
42alanine458.0SHC1, NRP1, NF1, GDNF, RET, SLC6A2
43steroid457.9TFF1, SHC1, NRP1, NF1, SLC6A2, ACTC1
44retinoic acid45 248.7TFF1, SHC1, ANXA5, NF1, GDNF, RET
45serine457.6VHL, SHC1, NRP1, NF1, GDNF, RET
46vegf457.1ACTC1, VHL, CALCA, TFF1, SHC1, NRP1
47lipid457.1SHC1, NRP1, ANXA5, NF1, GDNF, RET
48phosphatidylinositol457.0VHL, SHC1, NRP1, ANXA5, NF1, GDNF
49tyrosine456.3ANXA5, NRP1, SHC1, VHL, NF1, GDNF
50calcium45 50 11 249.1VHL, CALCA, TFF1, SHC1, NRP1, ANXA5

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

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Multiple Endocrine Neoplasia Type 2a

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