MCID: FML010
MIFTS: 63

Familial Medullary Thyroid Carcinoma malady

Genetic diseases, Cancer diseases, Rare diseases, Gastrointestinal diseases, Endocrine diseases categories

Summaries for Familial Medullary Thyroid Carcinoma

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OMIM:46 Medullary thyroid carcinoma (MTC) is a malignant tumor of the calcitonin (114130)-secreting parafollicular C cells of...155240 more...

MalaCards based summary: Familial Medullary Thyroid Carcinoma, also known as thyroid carcinoma, familial medullary, is related to hirschsprung's disease and pheochromocytoma, and has symptoms including autosomal dominant inheritanceand medullary thyroid carcinoma. An important gene associated with Familial Medullary Thyroid Carcinoma is NTRK1 (neurotrophic tyrosine kinase, receptor, type 1), and among its related pathways are EGF receptor (ErbB1) signaling pathway and Growth hormone receptor signaling. The compounds cipa and mibg have been mentioned in the context of this disorder. Affiliated tissues include thyroid and testes, and related mouse phenotypes are muscle and endocrine/exocrine gland.

Wikipedia:64 The term multiple endocrine neoplasia (MEN) encompasses several distinct syndromes featuring tumors of... more...

Aliases & Classifications for Familial Medullary Thyroid Carcinoma

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Sources:
9Disease Ontology, 11DISEASES, 21GeneTests, 23GTR, 44Novoseek, 61UMLS, 46OMIM
See all sources

Familial Medullary Thyroid Carcinoma, Aliases & Descriptions:

Name: Familial Medullary Thyroid Carcinoma 9 11
Thyroid Carcinoma, Familial Medullary 9 21 23 44 61
 
Medullary Thyroid Carcinoma, Familial 46


Classifications:



External Ids:

Disease Ontology9 DOID:0050547
OMIM46 155240

Related Diseases for Familial Medullary Thyroid Carcinoma

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Diseases in the Thyroid Medullary Carcinoma family:

familial medullary thyroid carcinoma Ntrk1-Related Familial Medullary Thyroid Carcinoma

Diseases related to Familial Medullary Thyroid Carcinoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 83)
idRelated DiseaseScoreTop Affiliating Genes
1hirschsprung's disease31.4RET, GDNF
2pheochromocytoma31.2SDHB, SDHD, RET
3multiple endocrine neoplasia31.0SDHD, SDHB, RET, SDHC, CALCA, GDNF
4parathyroid adenoma30.9CALCA, RET
5multiple endocrine neoplasia type 2a30.9SDHB, CALCA, RET, SDHC, SDHD, GDNF
6thyroid medullary carcinoma30.6RET, NTRK1, CALCA, GDNF
7papillary thyroid carcinoma30.6RET, NTRK1, STAT3
8phaeochromocytoma30.5SDHB, RET, SDHC, SDHD, CALCA
9adenoma30.1RET, GDNF, MAPK3, CALCA, NTRK1
10thyroiditis11.3
11cowden disease10.5RET
12amyloidosis10.5
13central hypoventilation syndrome10.5GDNF
14ntrk1-related familial medullary thyroid carcinoma10.4
15lichen amyloidosis10.4
16pancreatic islet cell tumors10.4CALCA, RET
17autosomal dominant disease10.4RET, CALCA
18nodular goiter10.4RET, CALCA
19renal dysplasia10.4RET, GDNF
20paragangliomas 110.4RET, SDHB
21follicular thyroid carcinoma10.4RET, CALCA
22hypoparathyroidism10.4CALCA, RET
23primary hyperparathyroidism10.3CALCA, RET
24intestinal obstruction10.3GDNF, RET
25hypothyroidism10.3RET, CALCA
26renal agenesis10.3GDNF, RET
27neurofibromatosis10.3SDHD, SDHB
28thyroid cancer, anaplastic10.3RET, CALCA
29paraganglioma10.3SDHD, SDHB
30goiter10.3CALCA, RET
31sipple syndrome10.3
32diabetic neuropathy10.3NTRK1, GDNF
33ganglioneuroma10.2NTRK1, RET
34neuroma10.2GDNF, RET, CALCA
35carcinoid syndrome10.2CALCA, SDHD, RET
36familial colorectal cancer10.2RET, SDHD, SDHB
37brain ischemia10.2GDNF, MAPK3
38autoimmune thyroiditis10.2CALCA, RET
39cushing's syndrome10.2CALCA, RET
40follicular adenoma10.2RET, NTRK1, CALCA
41papillary carcinoma10.2CALCA, NTRK1, RET
42thyroid hurthle cell carcinoma10.2NTRK1, RET, CALCA
43hereditary paraganglioma-pheochromocytoma syndromes10.2SDHD, SDHC, SDHB
44paraganglioma and gastric stromal sarcoma10.2SDHB, SDHD, SDHC
45carotid body tumor10.2SDHC, SDHB, SDHD
46carney triad10.2SDHB, SDHD, SDHC
47chondroma10.1SDHD, SDHC, SDHB
48adrenal cortical adenoma10.1SDHB, SDHC, SDHD
49pain agnosia10.1FOS, CALCA
50immunodeficiency with hyper igm type 210.1SDHB, NTRK1, GDNF

Graphical network of the top 20 diseases related to Familial Medullary Thyroid Carcinoma:



Diseases related to familial medullary thyroid carcinoma

Symptoms for Familial Medullary Thyroid Carcinoma

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Symptoms by clinical synopsis from OMIM:

155240

Clinical features from OMIM:

155240

HPO human phenotypes related to Familial Medullary Thyroid Carcinoma:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 medullary thyroid carcinoma HP:0002865

Drugs & Therapeutics for Familial Medullary Thyroid Carcinoma

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Drug clinical trials:

Search ClinicalTrials for Familial Medullary Thyroid Carcinoma

Search NIH Clinical Center for Familial Medullary Thyroid Carcinoma

Genetic Tests for Familial Medullary Thyroid Carcinoma

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Genetic tests related to Familial Medullary Thyroid Carcinoma:

id Genetic test Affiliating Genes
1 Familial Medullary Thyroid Carcinoma21 23

Anatomical Context for Familial Medullary Thyroid Carcinoma

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MalaCards organs/tissues related to Familial Medullary Thyroid Carcinoma:

32
Thyroid, Testes

Animal Models for Familial Medullary Thyroid Carcinoma or affiliated genes

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MGI Mouse Phenotypes related to Familial Medullary Thyroid Carcinoma:

36 (show all 15)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5GDNF, RET, STAT3, NTRK1, MAPK3
2MP:00053798.1GDNF, SDHD, RET, STAT3, FOS
3MP:00053858.1GDNF, SDHD, RET, STAT3, MAPK3, CALCA
4MP:00028738.0SDHD, RET, STAT3, FOS, NTRK1, CALCA
5MP:00107717.9STAT3, FOS, NTRK1, MAPK3, CALCA
6MP:00053807.8SDHD, RET, STAT3, FOS, CALCA
7MP:00020067.7SDHD, RET, STAT3, FOS, MAPK3, CALCA
8MP:00053977.6GDNF, RET, STAT3, FOS, NTRK1, MAPK3
9MP:00053877.6GDNF, RET, STAT3, FOS, NTRK1, MAPK3
10MP:00053767.5CALCA, MAPK3, FOS, STAT3, RET, SDHD
11MP:00053787.3GDNF, SDHD, RET, STAT3, FOS, NTRK1
12MP:00053847.3GDNF, SDHD, RET, STAT3, FOS, MAPK3
13MP:00053867.0GDNF, SDHD, RET, STAT3, FOS, NTRK1
14MP:00036317.0GDNF, SDHD, RET, STAT3, FOS, NTRK1
15MP:00107686.5CALCA, GDNF, SDHD, SDHC, RET, STAT3

Publications for Familial Medullary Thyroid Carcinoma

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Articles related to Familial Medullary Thyroid Carcinoma:

(show top 50)    (show all 100)
idTitleAuthorsYear
1
The rare intracellular RET mutation p.S891A in a Chinese Han family with familial medullary thyroid carcinoma. (24845513)
2014
2
Role of prophylactic thyroidectomy in RET 790 familial medullary thyroid carcinoma. (21688339)
2012
3
Case report: a p.C618S RET proto-oncogene germline mutation in a large Chinese pedigree with familial medullary thyroid carcinoma. (22068382)
2012
4
New presentation of familial medullary thyroid carcinoma in 87-year-old patient with high-risk RET proto-oncogene codon 620 mutation. (18771606)
2009
5
Familial medullary thyroid carcinoma associated with cutaneous lichen amyloidosis. (19445625)
2009
6
Prophylactic thyroidectomy in pediatric carriers of multiple endocrine neoplasia type 2A or familial medullary thyroid carcinoma: mutation in C620 is associated with Hirschsprung's disease. (17208566)
2007
7
Clinical case seminar: in vivo and in vitro characterization of a novel germline RET mutation associated with low-penetrant nonaggressive familial medullary thyroid carcinoma. (16384843)
2006
8
A rare RET gene exon 8 mutation is found in two Greek kindreds with familial medullary thyroid carcinoma: implications for screening. (16649977)
2006
9
A novel Czech kindred with familial medullary thyroid carcinoma and Hirschsprung's disease. (15991157)
2005
10
Exon 5 of the RET proto-oncogene: a newly detected risk exon for familial medullary thyroid carcinoma, a novel germ-line mutation Gly321Arg. (16419493)
2005
11
No mutations but an increased frequency of SDHx polymorphisms in patients with sporadic and familial medullary thyroid carcinoma. (16322339)
2005
12
Timing and extent of surgery in patients with familial medullary thyroid carcinoma/multiple endocrine neoplasia 2A-related RET mutations not affecting codon 634. (15517481)
2004
13
A novel germ-line point mutation in RET exon 8 (Gly(533)Cys) in a large kindred with familial medullary thyroid carcinoma. (14602786)
2003
14
Study of RET protooncogene in multiple endocrine neoplasm 2A and in familial medullary thyroid carcinoma. Clinical pathological findings in asymptomatic carriers]. (12673960)
2003
15
When should thyroidectomy be performed in familial medullary thyroid carcinoma gene carriers with non-cysteine RET mutations? (14668737)
2003
16
A new identified germline mutation of the RET proto-oncogene responsible for familial medullary thyroid carcinoma in co-existence with a hyperfunctioning autonomous nodule. (12072055)
2002
17
Familial medullary thyroid carcinoma (FMTC). Study of one family (treatment criteria). (11289752)
2001
18
Molecular genetic diagnostic program of multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma syndromes in Hungary. (11524247)
2001
19
Familial medullary thyroid carcinoma and prominent corneal nerves associated with the germline V804M and V778I mutations on the same allele of RET. (11732489)
2001
20
Presentation of a kindred with familial medullary thyroid carcinoma and Cys611Phe mutation of the RET proto-oncogene demonstrating low grade malignancy. (11331212)
2001
21
Incidental detection of familial medullary thyroid carcinoma by calcitonin screening for nodular thyroid disease. (10474127)
1999
22
Biological and biochemical properties of Ret with kinase domain mutations identified in multiple endocrine neoplasia type 2B and familial medullary thyroid carcinoma. (10445857)
1999
23
Prognosis of a family with familial medullary thyroid carcinoma. (10464711)
1999
24
Psychosocial impact of genetic testing in familial medullary-thyroid carcinoma: a multicentric pilot-evaluation. (10076727)
1999
25
A GTG to ATG novel point mutation at codon 804 in exon 14 of the RET proto-oncogene in two families affected by familial medullary thyroid carcinoma. (9452077)
1998
26
Results of the calcitonin stimulation test in normal volunteers compared with genetically unaffected members of MEN 2A and familial medullary thyroid carcinoma families. (9436479)
1997
27
Biological properties of Ret with cysteine mutations correlate with multiple endocrine neoplasia type 2A, familial medullary thyroid carcinoma, and Hirschsprung's disease phenotype. (9230192)
1997
28
Prevalence and parental origin of de novo RET mutations in multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma. Le Groupe d'Etude des Tumeurs a Calcitonine. (8981969)
1997
29
A novel somatic mutation in the RET proto-oncogene in familial medullary thyroid carcinoma with a germline codon 768 mutation. (9263528)
1997
30
Cys 618 Arg mutation in the RET proto-oncogene associated with familial medullary thyroid carcinoma and maternally transmitted Hirschsprung's disease suggesting a role for imprinting. (9259198)
1997
31
Familial medullary thyroid carcinoma: not a distinct entity? Genotype-phenotype correlation in a large family. (9003111)
1996
32
Immune response against medullary thyroid carcinoma (MTC) induced by parental and/or interleukin-2-secreting MTC cells in a rat model of human familial medullary thyroid carcinoma. (8954146)
1996
33
Rudolf-Virchow-Preis 1995. The role of RET proto-oncogene mutation analysis in the diagnosis of multiple endocrine neoplasia type 2 (MEN 2) gene carriers and in the discrimination of sporadic and familial medullary thyroid carcinomas and pheochromocytomas. (8600671)
1995
34
Multiple endocrine neoplasia type 2A, type 2B and familial medullary thyroid carcinoma syndrome]. (8538031)
1995
35
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
36
Mapping the inherited defects associated with multiple endocrine neoplasia type 2A, multiple endocrine neoplasia type 2B, and familial medullary thyroid carcinoma to chromosome 10 by linkage analysis. (7913024)
1994
37
Familial medullary thyroid carcinoma: report of three cases in a family. (8099830)
1993
38
Familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2B map to the same region of chromosome 10 as multiple endocrine neoplasia type 2A. (1672289)
1991
39
Incidence of sporadic and familial medullary thyroid carcinoma in Sweden 1959 through 1981. A nationwide study in 126 patients. Swedish MCT Study Group. (2310607)
1990
40
Clinical characteristics in sporadic and familial medullary thyroid carcinoma. A nationwide study of 249 patients in Sweden from 1959 through 1981. (2563669)
1989
41
Familial medullary thyroid carcinoma without associated endocrinopathies: a distinct clinical entity. (3697657)
1986
42
Diagnostic usefulness of the calcitonin secretion induced with pentagastrin in the familial medullary thyroid carcinoma. (2870690)
1985
43
Screening for familial medullary thyroid carcinoma: a review. (6747984)
1984
44
Gastrin Responses to a test meal in patients with familial medullary thyroid carcinoma. (7061688)
1982
45
Familial medullary thyroid carcinoma and C cell hyperplasia. (7285384)
1981
46
Natural history of familial medullary thyroid carcinoma: effect of a program for early diagnosis. (692625)
1978
47
Cellular immune responses in familial medullary thyroid carcinoma. (321956)
1977
48
Natural history of the familial medullary thyroid carcinoma-pheochromocytoma syndrome and the identification of preneoplastic stages by screening studies: a five-year report. (1224435)
1975
49
Familial medullary thyroid carcinoma and pheochromocytoma: epidemiologic investigations. (4359415)
1974
50
Studies in familial (medullary) thyroid carcinoma. (4347303)
1972

Variations for Familial Medullary Thyroid Carcinoma

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UniProtKB/Swiss-Prot genetic disease variations for Familial Medullary Thyroid Carcinoma:

63 (show all 30)
id Symbol AA change Variation ID SNP ID
1RETp.Cys609TyrVAR_006306rs77939446
2RETp.Cys611TrpVAR_006308rs80069458
3RETp.Cys618ArgVAR_006311rs76262710
4RETp.Cys618PheVAR_006312
5RETp.Cys618SerVAR_006313rs79781594
6RETp.Cys618TyrVAR_006314
7RETp.Cys620GlyVAR_006315
8RETp.Cys620ArgVAR_006316
9RETp.Cys620SerVAR_006317
10RETp.Cys620PheVAR_006318rs77503355
11RETp.Cys630PheVAR_006320
12RETp.Cys634TyrVAR_006325
13RETp.Cys634ArgVAR_006326
14RETp.Cys634SerVAR_006327
15RETp.Cys634TrpVAR_006328
16RETp.Glu768AspVAR_006335rs78014899
17RETp.Val804LeuVAR_006336rs79658334
18RETp.Val804MetVAR_006337rs79658334
19RETp.Met918ThrVAR_006342rs74799832
20RETp.Thr946MetVAR_006345
21RETp.Cys611GlyVAR_009472
22RETp.Cys630SerVAR_009477
23RETp.Cys630TyrVAR_009478
24RETp.Leu790PheVAR_009482rs75030001
25RETp.Tyr791PheVAR_009483rs77724903
26RETp.Ser891AlaVAR_009486rs75234356
27RETp.Arg844LeuVAR_011582rs55947360
28RETp.Ala639GlyVAR_012743
29RETp.Ala641GlyVAR_012744
30RETp.Ser922PheVAR_012745

Clinvar genetic disease variations for Familial Medullary Thyroid Carcinoma:

7 (show all 16)
id Gene Name Type Significance SNP ID Assembly Location
1NTRK1NM_001007792.1(NTRK1): c.1730G> T (p.Gly577Val)single nucleotide variantPathogenicrs6339GRCh37Chr 1, 156848946: 156848946
2NTRK1NM_001007792.1(NTRK1): c.1730G> T (p.Gly577Val)single nucleotide variantPathogenicrs6339GRCh37Chr 1, 156848946: 156848946
3RETNM_020975.4(RET): c.1901G> T (p.Cys634Phe)single nucleotide variantPathogenicrs75996173GRCh37Chr 10, 43609949: 43609949
4RETNM_020975.4(RET): c.1853G> C (p.Cys618Ser)single nucleotide variantPathogenicrs79781594GRCh37Chr 10, 43609097: 43609097
5RETNM_020975.4(RET): c.1852T> C (p.Cys618Arg)single nucleotide variantPathogenicrs76262710GRCh37Chr 10, 43609096: 43609096
6RETNM_020975.4(RET): c.2304G> C (p.Glu768Asp)single nucleotide variantPathogenicrs78014899GRCh37Chr 10, 43613840: 43613840
7RETNM_020975.4(RET): c.2370G> C (p.Leu790Phe)single nucleotide variantPathogenicrs75030001GRCh37Chr 10, 43613906: 43613906
8RETRET, 9-BP DUP, EX8duplicationPathogenic
9RETNM_020975.4(RET): c.1859G> C (p.Cys620Ser)single nucleotide variantPathogenicrs77503355GRCh37Chr 10, 43609103: 43609103
10RETNM_020975.4(RET): c.1825T> C (p.Cys609Arg)single nucleotide variantPathogenicrs77558292GRCh37Chr 10, 43609069: 43609069
11RETNM_020975.4(RET): c.2410G> T (p.Val804Leu)single nucleotide variantPathogenicrs79658334GRCh37Chr 10, 43614996: 43614996
12RETNM_020975.4(RET): c.1597G> T (p.Gly533Cys)single nucleotide variantPathogenicrs75873440GRCh37Chr 10, 43607621: 43607621
13RETNM_020975.4(RET): c.2671T> G (p.Ser891Ala)single nucleotide variantPathogenicrs75234356GRCh37Chr 10, 43615592: 43615592
14RETNM_020975.4(RET): c.1585_1593dupGAGGAGTGT (p.Cys531_Gly532insGluGluCys)duplicationPathogenicrs377767434GRCh37Chr 10, 43607609: 43607617
15RETNM_020975.4(RET): c.2735G> C (p.Arg912Pro)single nucleotide variantPathogenicrs78347871GRCh37Chr 10, 43617398: 43617398
16NTRK1NM_001007792.1(NTRK1): c.1702C> T (p.His568Tyr)single nucleotide variantPathogenicrs6336GRCh37Chr 1, 156848918: 156848918

Expression for genes affiliated with Familial Medullary Thyroid Carcinoma

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Expression patterns in normal tissues for genes affiliated with Familial Medullary Thyroid Carcinoma

Search GEO for disease gene expression data for Familial Medullary Thyroid Carcinoma.

Pathways for genes affiliated with Familial Medullary Thyroid Carcinoma

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Pathways related to Familial Medullary Thyroid Carcinoma according to GeneCards/GeneDecks:

(show top 50)    (show all 77)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3STAT3, MAPK3
29.3MAPK3, STAT3
39.2MAPK3, RET, NTRK1
49.1FOS, STAT3
5
Show member pathways
TCA cycle37
pyruvate decarboxylation to acetyl CoA37
NAD phosphorylation and dephosphorylation37
TCA Cycle37
conversion of glucose to acetyl CoA and entry into the TCA cycle37
9.1SDHC, SDHD, SDHB
6
Show member pathways
L-serine degradation37
pentose phosphate pathway (oxidative branch)37
formaldehyde oxidation II (glutathione-dependent)37
9.1SDHB, SDHD, SDHC
79.1MAPK3, RET, GDNF
89.0MAPK3, FOS
99.0MAPK3, FOS
109.0MAPK3, FOS
119.0FOS, MAPK3
12
Show member pathways
9.0NTRK1, STAT3, MAPK3
13
Show member pathways
8.7MAPK3, FOS, NTRK1
14
Show member pathways
Cytoskeleton remodeling FAK signaling59
Development Endothelin 1 EDNRA transactivation of EGFR59
8.7FOS, MAPK3, NTRK1
158.6MAPK3, GDNF, FOS
16
Show member pathways
8.5STAT3, MAPK3, FOS
178.5STAT3, MAPK3, FOS
188.5STAT3, FOS, MAPK3
19
Show member pathways
IL23-mediated signaling events37
Immune response IL 10 signaling pathway59
Angiopoietin receptor Tie2-mediated signaling37
Development PDGF signaling via STATs and NF kB59
Development Angiopoietin Tie2 signaling59
8.5MAPK3, FOS, STAT3
20
Show member pathways
8.5MAPK3, FOS, STAT3
21
Show member pathways
Signal transduction PTEN pathway59
8.5FOS, STAT3, MAPK3
228.5MAPK3, FOS, STAT3
23
Show member pathways
IL-9 Signaling Pathway37
Development Thrombopoietin regulated cell processes59
IL-7 Signaling Pathway37
Immune response IL 9 signaling pathway59
8.5FOS, MAPK3, STAT3
24
Show member pathways
8.5MAPK3, FOS, STAT3
258.5FOS, STAT3, MAPK3
26
Show member pathways
8.5STAT3, FOS, MAPK3
27
Show member pathways
Immune response BCR pathway59
Fc-epsilon receptor I signaling in mast cells37
8.5STAT3, FOS, MAPK3
28
Show member pathways
IL-2 Signaling pathway37
8.5FOS, MAPK3, STAT3
29
Show member pathways
Prolactin Signaling Pathway37
Development Prolactin receptor signaling59
Leptin signaling pathway37
8.5FOS, STAT3, MAPK3
30
Show member pathways
Immune response IL 22 signaling pathway59
G protein signaling N RAS regulation pathway59
8.5STAT3, FOS, MAPK3
318.5MAPK3, FOS, STAT3
328.5MAPK3, FOS, STAT3
33
Show member pathways
MAPK Cascade37
Immune response Oncostatin M signaling via MAPK in human cells59
Oncostatin M Signaling Pathway37
8.5FOS, STAT3, MAPK3
34
Show member pathways
ErbB receptor signaling network37
ErbB signaling pathway37
8.5MAPK3, FOS, STAT3
35
Show member pathways
8.5FOS, MAPK3, STAT3
36
Show member pathways
8.5MAPK3, STAT3, FOS
37
Show member pathways
8.5MAPK3, STAT3, FOS
388.5MAPK3, STAT3, FOS
39
Show member pathways
Prostate Cancer37
Integrated Cancer pathway37
Steroid Biosynthesis37
8.5MAPK3, STAT3, FOS
40
Show member pathways
8.5MAPK3, STAT3, FOS
41
Show member pathways
Alzheimers Disease37
8.5SDHC, SDHB, SDHD, MAPK3
42
Show member pathways
8.2STAT3, FOS, NTRK1, MAPK3
43
Show member pathways
8.2MAPK3, NTRK1, FOS, STAT3
44
Show member pathways
8.2FOS, STAT3, NTRK1, MAPK3
45
Show member pathways
Development EGFR signaling via PIP359
Development PDGF signaling via MAPK cascades59
Apoptosis and survival Anti apoptotic action of membrane bound ESR159
Signaling of Hepatocyte Growth Factor Receptor37
Development EGFR signaling via small GTPases59
Development Neurotrophin family signaling59
Apoptosis and survival NGF signaling pathway59
Apoptosis and survival Role of CDK5 in neuronal death and survival59
8.2MAPK3, NTRK1, FOS, STAT3
468.2MAPK3, STAT3, NTRK1, FOS
47
Show member pathways
8.2NTRK1, MAPK3, STAT3, FOS
487.9FOS, MAPK3, RET, NTRK1, STAT3
49
Show member pathways
7.8STAT3, MAPK3, NTRK1, FOS, GDNF
50
Show member pathways
Development ERBB family signaling59
Development GDNF family signaling59
7.8FOS, STAT3, GDNF, RET, MAPK3

Compounds for genes affiliated with Familial Medullary Thyroid Carcinoma

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Compounds related to Familial Medullary Thyroid Carcinoma according to GeneCards/GeneDecks:

(show top 50)    (show all 99)
idCompoundScoreTop Affiliating Genes
1cipa4410.2NTRK1, RET
2mibg449.7SDHB, SDHD, CALCA
3Fumaric acid259.6SDHB, SDHC, SDHD
4fumarate44 1210.5SDHB, SDHD, SDHC
5succinic acid29 25 1211.5SDHB, SDHC, SDHD
6iron-sulfur449.5SDHC, SDHD, SDHB
7ubiquinone449.5SDHC, SDHD, SDHB
8Sulfide259.4SDHD, SDHB, SDHC
9QH2259.4SDHC, SDHB, SDHD
10Ubiquinone Q2259.4SDHD, SDHC, SDHB
11Ubiquinone Q1259.3SDHD, SDHC, SDHB
12succinate449.2SDHD, RET, SDHC, SDHB
13vanadate449.1MAPK3, STAT3, NTRK1
14catecholamine449.1GDNF, SDHB, SDHD, RET, NTRK1
15capsaicin44 2910.0CALCA, NTRK1, FOS, GDNF
16norepinephrine44 25 1210.8CALCA, MAPK3, SDHB, GDNF
17butyrate448.7MAPK3, RET, FOS, NTRK1
18iron44 259.6STAT3, SDHC, SDHD, SDHB, GDNF
19agar448.5RET, MAPK3, STAT3, FOS
20ag 1478448.5STAT3, MAPK3, FOS
21tamoxifen44 50 29 1211.4MAPK3, FOS, STAT3, NTRK1
22oxygen44 259.4SDHB, GDNF, NTRK1, SDHC, SDHD
23losartan44 50 29 1211.4MAPK3, FOS, STAT3
24oligonucleotide448.4NTRK1, STAT3, FOS, RET, GDNF
25nmda44 299.4GDNF, MAPK3, SDHB, FOS
26testosterone44 60 25 1211.3CALCA, MAPK3, NTRK1, RET, STAT3, SDHB
27phosphotyrosine448.3MAPK3, NTRK1, FOS, STAT3, RET
2812-o-tetradecanoylphorbol 13-acetate448.3NTRK1, FOS, STAT3, RET, MAPK3
29aspartate448.3RET, SDHB, STAT3, MAPK3, GDNF, NTRK1
30alanine448.2NTRK1, MAPK3, GDNF, SDHB, RET, STAT3
31anisomycin44 129.2FOS, STAT3, MAPK3
32atp44 299.2MAPK3, RET, GDNF, NTRK1, SDHB, STAT3
33cysteine448.2GDNF, SDHB, NTRK1, STAT3, RET, MAPK3
34phosphoinositide448.2MAPK3, NTRK1, FOS, STAT3, GDNF
35cyclic amp44 259.1FOS, RET, NTRK1, MAPK3, CALCA, GDNF
36threonine448.1MAPK3, RET, NTRK1, STAT3, FOS
37pd 98,059447.9GDNF, MAPK3, NTRK1, RET, FOS, STAT3
38ly294002447.9FOS, RET, STAT3, NTRK1, MAPK3, GDNF
39wortmannin447.9MAPK3, NTRK1, FOS, STAT3, GDNF, RET
40glutamate447.9SDHB, FOS, MAPK3, CALCA, NTRK1, GDNF
41genistein44 29 60 3 25 1212.9GDNF, MAPK3, RET, FOS, NTRK1, STAT3
42phosphatidylinositol447.9GDNF, RET, MAPK3, NTRK1, FOS, STAT3
43estrogen447.8CALCA, MAPK3, STAT3, FOS, NTRK1, GDNF
44h2o2447.8GDNF, SDHB, FOS, NTRK1, MAPK3, STAT3
45dopamine44 29 25 1210.6GDNF, SDHB, RET, MAPK3, CALCA, FOS
46serine447.6FOS, RET, NTRK1, MAPK3, GDNF, STAT3
47calcium44 50 25 1210.5GDNF, RET, SDHB, FOS, NTRK1, MAPK3
48tyrosine447.4MAPK3, GDNF, FOS, STAT3, RET, SDHB
49retinoic acid44 258.4RET, SDHC, NTRK1, GDNF, FOS, STAT3
50vegf446.6CALCA, GDNF, SDHB, SDHC, RET, STAT3

GO Terms for genes affiliated with Familial Medullary Thyroid Carcinoma

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Cellular components related to Familial Medullary Thyroid Carcinoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:0057439.1SDHC, SDHD, SDHB
2mitochondrial respiratory chain complex IIGO:0057498.8SDHC, SDHD, SDHB

Biological processes related to Familial Medullary Thyroid Carcinoma according to GeneCards/GeneDecks:

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1detection of temperature stimulus involved in sensory perception of painGO:05096510.2NTRK1, CALCA
2response to painGO:04826510.1RET, CALCA
3enteric nervous system developmentGO:04848410.0RET, GDNF
4sympathetic nervous system developmentGO:04848510.0GDNF, NTRK1
5activation of adenylate cyclase activityGO:00719010.0CALCA, NTRK1
6neural crest cell migrationGO:0017559.8RET, GDNF
7aerobic respirationGO:0090609.8SDHC, SDHB
8JAK-STAT cascade involved in growth hormone signaling pathwayGO:0603979.6MAPK3, STAT3
9phosphorylationGO:0163109.6STAT3, MAPK3
10tricarboxylic acid cycleGO:0060999.5SDHC, SDHD, SDHB
11respiratory electron transport chainGO:0229049.5SDHC, SDHD, SDHB
12cellular metabolic processGO:0442379.4SDHC, SDHD, SDHB
13cellular response to hormone stimulusGO:0328709.3FOS, STAT3
14agingGO:0075689.3CALCA, NTRK1, FOS
15activation of MAPKK activityGO:0001869.3MAPK3, NTRK1
16protein phosphorylationGO:0064689.2RET, NTRK1, MAPK3, CALCA
17neurotrophin TRK receptor signaling pathwayGO:0480119.2STAT3, NTRK1, MAPK3
18axon guidanceGO:0074119.0MAPK3, NTRK1, GDNF
19regulation of sequence-specific DNA binding transcription factor activityGO:0510909.0FOS, MAPK3
20stress-activated MAPK cascadeGO:0514039.0MAPK3, FOS
21response to drugGO:0424938.9NTRK1, FOS, STAT3, RET
22nervous system developmentGO:0073998.8FOS, STAT3, GDNF
23positive regulation of transcription from RNA polymerase II promoterGO:0459448.3MAPK3, FOS, STAT3, GDNF

Molecular functions related to Familial Medullary Thyroid Carcinoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transmembrane receptor protein tyrosine kinase activityGO:0047149.9NTRK1, RET
2succinate dehydrogenase activityGO:0001049.6SDHC, SDHD
3ubiquinone bindingGO:0480399.5SDHD, SDHB
4electron carrier activityGO:0090558.8SDHC, SDHD, SDHB

Products for genes affiliated with Familial Medullary Thyroid Carcinoma

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Familial Medullary Thyroid Carcinoma

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet