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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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 based summary: Multiple Endocrine Neoplasia Type 2a, also known as sipple syndrome, is related to familial medullary thyroid carcinoma and multiple endocrine neoplasia, and has symptoms including 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, colon and adrenal gland, and related mouse phenotypes are digestive/alimentary and renal/urinary system.

Description from OMIM:46 171400

Aliases & Classifications for Multiple Endocrine Neoplasia Type 2a

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Multiple Endocrine Neoplasia Type 2a, Aliases & Descriptions:

Name: Multiple Endocrine Neoplasia Type 2a 42 20 22 48 62
Sipple Syndrome 42 48 62
Men 2a 42 44 62
Ptc Syndrome 42 48
 
Pheochromocytoma and Amyloid Producing Medullary Thyroid Carcinoma 42
Multiple Endocrine Neoplasia Iia 46
Men-2a Syndrome 42
Men2a 48


Classifications:



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


External Ids:

OMIM46 171400
MESH via Orphanet35 D018813
ICD10 via Orphanet26 D44.8
UMLS via Orphanet63 C0025268

Related Diseases for Multiple Endocrine Neoplasia Type 2a

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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 99)
idRelated DiseaseScoreTop Affiliating Genes
1familial medullary thyroid carcinoma32.2GDNF
2multiple endocrine neoplasia31.9NF1, VHL, RET, GDNF, CALCA
3pheochromocytoma31.9RET, VHL
4primary hyperparathyroidism31.6RET, CALCA
5hirschsprung's disease31.6GFRA1, RET, GDNF
6phaeochromocytoma31.5RET, CALCA
7hyperparathyroidism31.3RET, CALCA, NF1
8renal dysplasia31.1GDNF, RET
9parathyroid adenoma31.1RET, CALCA
10paraganglioma31.0VHL, ACTC1
11cushing's syndrome30.9CALCA, RET
12gastrointestinal stromal tumor30.6ACTC1, NF1
13renal agenesis30.4GFRA1, RET, GDNF
14thyroid medullary carcinoma30.2RET, VHL, CALCA, GFRA1, TFF1, GDNF
15wermer syndrome30.0NF1, RET, VHL
16leukemia29.0ANXA5, NF1, NRP1, GDNF, GFRA1, SHC1
17adenoma28.9ACTC1, ANXA5, RET, SHC1, GFRA1, TFF1
18thyroiditis11.2
19amyloidosis10.8
20lichen amyloidosis10.8
21thyroid cancer10.7
22papillary thyroid carcinoma10.7
23wdha syndrome10.5CALCA
24central hypoventilation syndrome10.5GDNF
25somatostatinoma10.5CALCA
26cowden disease10.5RET
27cherubism10.5CALCA
28leiomyomatosis10.5VHL
29pancreatic islet cell tumors10.4CALCA, RET
30autosomal dominant disease10.4RET, CALCA
31nodular goiter10.4RET, CALCA
32hypoparathyroidism10.4RET, CALCA
33follicular thyroid carcinoma10.4RET, CALCA
34intestinal obstruction10.4RET, GDNF
35acromegaly10.4
36parathyroid carcinoma10.4
37cervical neuroblastoma10.4
38gestational diabetes10.4
39sipple syndrome10.4
40alveolar rhabdomyosarcoma10.4
41cervicitis10.4
42neuroblastoma10.4
43pancreatitis10.4
44rhabdomyosarcoma10.4
45vaginitis10.4
46notalgia paresthetica10.4
47fibromatosis10.4TFF1, ACTC1
48hypothyroidism10.4CALCA, RET
49giant cell tumor10.3ACTC1, CALCA
50goiter10.3RET, CALCA

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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Symptoms by clinical synopsis from OMIM:

171400

Clinical features from OMIM:

171400

HPO human phenotypes related to Multiple Endocrine Neoplasia Type 2a:

(show all 11)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 hypertension HP:0000822
3 hyperparathyroidism HP:0000843
4 abnormality of the integument HP:0001574
5 hypercortisolism HP:0001578
6 aganglionic megacolon HP:0002251
7 pheochromocytoma HP:0002666
8 medullary thyroid carcinoma HP:0002865
9 parathyroid adenoma HP:0002897
10 elevated calcitonin HP:0003528
11 elevated urinary epinephrine HP:0003639

Drugs & Therapeutics for Multiple Endocrine Neoplasia Type 2a

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

32
Thyroid, Colon, Adrenal gland, Skin, Tongue, Testes, Brain, Kidney, Liver, Ovary

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

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

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

Publications for Multiple Endocrine Neoplasia Type 2a

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Articles related to Multiple Endocrine Neoplasia Type 2a:

(show top 50)    (show all 208)
idTitleAuthorsYear
1
Nonfunctional Metastatic Parathyroid Carcinoma in the Setting of Multiple Endocrine Neoplasia Type 2A Syndrome. (25374962)
2014
2
Pheochromocytoma in an 8-year-old patient with multiple endocrine neoplasia type 2A: implications for screening. (23868299)
2013
3
Multiple endocrine neoplasia type 2A. (22632891)
2012
4
Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10. (20979234)
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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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:

6 (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 variantPathogenicrs78935588GRCh37Chr 10, 43609967: 43609967
17RETNM_020975.4(RET): c.2671T> G (p.Ser891Ala)single nucleotide variantPathogenicrs75234356GRCh37Chr 10, 43615592: 43615592
18RETNM_020975.4(RET): c.874G> A (p.Val292Met)single nucleotide variantPathogenicrs34682185GRCh37Chr 10, 43601830: 43601830
19RETNM_020975.4(RET): c.1825T> G (p.Cys609Gly)single nucleotide variantPathogenicrs77558292GRCh37Chr 10, 43609069: 43609069
20RETNM_020975.4(RET): c.1891_1893delGAC (p.Asp631del)deletionPathogenicrs377767435GRCh37Chr 10, 43609939: 43609941
21RETNM_020975.4(RET): c.1891G> T (p.Asp631Tyr)single nucleotide variantPathogenicrs377767406GRCh37Chr 10, 43609939: 43609939
22RETNM_020975.4(RET): c.1892_1903dupACGAGCTGTGCC (p.Cys634_Arg635insHisGluLeuCys)duplicationPathogenicrs377767436GRCh37Chr 10, 43609940: 43609951
23RETNM_020975.4(RET): c.1900_1908dupTGCCGCACG (p.Thr636_Val637insCysArgThr)duplicationPathogenicrs377767437GRCh37Chr 10, 43609948: 43609956
24RETNM_020975.4(RET): c.2080C> T (p.Arg694Trp)single nucleotide variantLikely pathogenicrs193922700GRCh37Chr 10, 43610128: 43610128
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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Expression patterns in normal tissues for genes affiliated with Multiple Endocrine Neoplasia Type 2a

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Pathways for genes affiliated with Multiple Endocrine Neoplasia Type 2a

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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 signals37
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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Compounds related to Multiple Endocrine Neoplasia Type 2a according to GeneCards/GeneDecks:

(show top 50)    (show all 74)
idCompoundScoreTop Affiliating Genes
1guanethidine44 1111.0SLC6A2, CALCA
2catecholamine449.8SLC6A2, GDNF, RET
3capsaicin44 2810.7CALCA, ANXA5, GDNF
4cytosine44 2410.6VHL, TFF1, SLC6A2
5mibg449.5CALCA, SLC6A2
6glycosaminoglycan449.5NRP1, GDNF, ACTC1
7succinate449.5RET, NF1, VHL
8fluoride449.4NF1, CALCA, ANXA5
9heparan sulfate44 2410.4GFRA1, GDNF, RET
10paraffin449.2ACTC1, RET, TFF1, NF1
11forskolin44 50 1111.2SLC6A2, NF1, CALCA, GDNF
12aurintricarboxylic acid449.1ANXA5, SHC1
13nicotine44 28 50 1112.1ANXA5, VHL, SLC6A2
14gp 130449.1NRP1, TFF1, SHC1
15ethanol44 50 24 1112.0SHC1, GDNF, SLC6A2, TFF1
16acetylcholine44 50 28 24 1113.0GDNF, SLC6A2, SHC1, CALCA
17imatinib44 50 1110.9ACTC1, SHC1, RET, ANXA5
18cyclic amp44 249.8RET, CALCA, NRP1, NF1, GDNF
19testosterone44 61 24 1111.8TFF1, SHC1, CALCA, ACTC1, RET
20oligonucleotide448.8GDNF, NF1, RET, VHL, SLC6A2
21heparin44 28 24 1111.8NRP1, GDNF, ANXA5, GFRA1
22glutamate448.8ANXA5, SLC6A2, NRP1, CALCA, GDNF
23methionine448.7RET, NF1, SHC1, SLC6A2
24adenylate448.7CALCA, GDNF, NRP1, NF1, SLC6A2
25genistein44 28 61 2 24 1113.6ANXA5, SHC1, TFF1, GDNF, RET
26dopamine44 28 24 1111.6SLC6A2, NF1, CALCA, RET, GDNF, GFRA1
27pd 98,059448.6SLC6A2, ANXA5, GDNF, SHC1, RET
28aspartate448.6RET, SLC6A2, NRP1, GDNF, SHC1
29superoxide44 249.6SHC1, SLC6A2, ANXA5, GDNF
30bromodeoxyuridine448.5ANXA5, TFF1, SHC1, GFRA1, GDNF
31ly294002448.5VHL, GDNF, SHC1, ANXA5, RET
32actinomycin d448.5ANXA5, SHC1, TFF1, VHL, GDNF
33wortmannin448.4ANXA5, RET, NRP1, SHC1, GDNF
34progesterone44 28 61 24 1112.4TFF1, ACTC1, NF1, SLC6A2, SHC1
35nitric oxide44 24 1110.4NRP1, CALCA, VHL, GDNF, SHC1
36arginine448.3NRP1, SHC1, TFF1, NF1, RET
37oxygen44 249.2VHL, ACTC1, SHC1, GDNF, ANXA5
38atp44 289.1RET, SHC1, ANXA5, NF1, GDNF
39cysteine448.1GDNF, TFF1, GFRA1, RET, NRP1, NF1
40alanine448.0SLC6A2, NF1, NRP1, RET, SHC1, GDNF
41steroid447.9SLC6A2, SHC1, TFF1, NF1, ACTC1, NRP1
42glucose447.8NRP1, VHL, ACTC1, SHC1, GDNF, TFF1
43retinoic acid44 248.7TFF1, ACTC1, NF1, GDNF, ANXA5, RET
44serine447.5SLC6A2, NF1, NRP1, GDNF, SHC1, VHL
45vegf447.1ANXA5, RET, TFF1, ACTC1, VHL, CALCA
46lipid447.1SHC1, RET, ANXA5, NRP1, SLC6A2, GFRA1
47phosphatidylinositol447.0RET, SHC1, GFRA1, GDNF, ANXA5, NF1
48estrogen446.9NF1, NRP1, VHL, CALCA, ACTC1, GDNF
49tyrosine446.3NF1, SHC1, GDNF, GFRA1, SLC6A2, VHL
50calcium44 50 24 119.1ACTC1, VHL, RET, SHC1, TFF1, GDNF

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

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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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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet