MCID: MDL022
MIFTS: 48

Medullary Thyroid Carcinoma, Familial malady

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

Summaries for Medullary Thyroid Carcinoma, Familial

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OMIM:45 Medullary thyroid carcinoma (MTC) is a malignant tumor of the calcitonin (114130)-secreting parafollicular C cells of... (155240) more...

MalaCards based summary: Medullary Thyroid Carcinoma, Familial, also known as familial medullary thyroid carcinoma, is related to pheochromocytoma and neuroendocrine tumor, and has symptoms including autosomal dominant inheritanceand medullary thyroid carcinoma. An important gene associated with Medullary Thyroid Carcinoma, Familial is NTRK1 (neurotrophic tyrosine kinase, receptor, type 1), and among its related pathways are Pathways in cancer and Neuroscience. The compounds cipa and regorafenib have been mentioned in the context of this disorder. Affiliated tissues include thyroid and testes, and related mouse phenotype limbs/digits/tail.

Disease Ontology:9 A follicular thyroid carcinoma that has material basis in parafollicular cells.

Aliases & Classifications for Medullary Thyroid Carcinoma, Familial

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 55SNOMED-CT, 33MeSH, 38NCIt, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Medullary Thyroid Carcinoma, Familial, Aliases & Descriptions:

Name: Medullary Thyroid Carcinoma, Familial 45
Familial Medullary Thyroid Carcinoma 9 20 11 47 22 60
Medullary Thyroid Carcinoma 45 9 10 47
Thyroid Carcinoma, Familial Medullary 45 9 43
Thyroid Medullary Carcinoma 9 11
Thyroid Carcinoma Medullary 43 22
Medullary Carcinoma of the Thyroid Gland 9
Ultimobranchial Thyroid Tumour 9
 
Medullary Carcinoma of Thyroid 60
Ultimobranchial Thyroid Tumor 9
Thyroid Carcinoma, Medullary 41
Thyroid Cancer, Medullary 41
Medullary Thyroid Cancer 41
Familial Mtc 47
Mtc 47


Classifications:



Characteristics (Orphanet epidemiological data):

47
medullary thyroid carcinoma:
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe),1-9/1000000 (United States),1-9/1000000 (Europe); Age of onset: Adult
familial medullary thyroid carcinoma:
Inheritance: Autosomal dominant


External Ids:

OMIM45 155240
Disease Ontology9 DOID:0050547, DOID:3973
MeSH33 C536914
NCIt38 C3879
Orphanet47 1332, 99361
MESH via Orphanet34 C536914, C536911
ICD10 via Orphanet26 C73
UMLS via Orphanet61 C0238462, C1833921

Related Diseases for Medullary Thyroid Carcinoma, Familial

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Diseases in the Medullary Thyroid Carcinoma, Familial family:

Ntrk1-Related Familial Medullary Thyroid Carcinoma

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

(show top 50)    (show all 72)
idRelated DiseaseScoreTop Affiliating Genes
1pheochromocytoma30.9NTRK1, RET
2neuroendocrine tumor30.6RET, NTRK1
3thyroid cancer30.6NTRK1, RET
4neuroblastoma30.4NTRK1
5papillary carcinoma30.4RET, NTRK1
6thyroid carcinoma, papillary30.2RET, NTRK1
7adenoma30.1NTRK1, RET
8thyroiditis10.6
9cushing's syndrome10.6
10phaeochromocytoma10.5
11amyloidosis10.5
12goiter10.5
13multiple endocrine neoplasia iia10.5
14multiple endocrine neoplasia iib10.4
15paraganglioma10.4
16nodular goiter10.4
17cervicitis10.4
18ntrk1-related familial medullary thyroid carcinoma10.4
19multiple endocrine neoplasia10.4
20leukemia10.3
21neuroendocrine carcinoma10.3
22herpes simplex10.3
23neuroma10.3
24endotheliitis10.3
25insulin-like growth factor i10.2
26osteopetrosis10.2
27somatostatinoma10.2
28multiple mucosal neuroma10.2
29bronchitis10.2
30duodenitis10.2
31endemic goiter10.2
32basal cell carcinoma10.2
33cholestasis10.2
34hyperparathyroidism10.2
35hyperthyroidism10.2
36kidney disease10.2
37mediastinitis10.2
38pancreatitis10.2
39parathyroid adenoma10.2
40pituitary tumors10.2
41macular amyloidosis10.2
42sporadic pheochromocytoma10.2
43unilateral renal agenesis10.2
44gastrointestinal stromal tumor10.2
45thyroid carcinoma, follicular10.2
46laron dwarfism10.2
47hepatitis10.2
48marantic endocarditis10.2
49diabetes insipidus10.2
50hypercalcemia10.2

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



Diseases related to medullary thyroid carcinoma, familial

Symptoms for Medullary Thyroid Carcinoma, Familial

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Symptoms by clinical synopsis from OMIM:

155240

Clinical features from OMIM:

155240

HPO human phenotypes related to Medullary Thyroid Carcinoma, Familial:

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

Drugs & Therapeutics for Medullary Thyroid Carcinoma, Familial

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Drug clinical trials:

Search ClinicalTrials for Medullary Thyroid Carcinoma, Familial

Search NIH Clinical Center for Medullary Thyroid Carcinoma, Familial

Genetic Tests for Medullary Thyroid Carcinoma, Familial

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Genetic tests related to Medullary Thyroid Carcinoma, Familial:

id Genetic test Affiliating Genes
1 Familial Medullary Thyroid Carcinoma20 22
2 Medullary Thyroid Carcinoma22

Anatomical Context for Medullary Thyroid Carcinoma, Familial

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MalaCards organs/tissues related to Medullary Thyroid Carcinoma, Familial:

31
Thyroid, Testes

Animal Models for Medullary Thyroid Carcinoma, Familial or affiliated genes

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MGI Mouse Phenotypes related to Medullary Thyroid Carcinoma, Familial:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1NTRK1, RET

Publications for Medullary Thyroid Carcinoma, Familial

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Articles related to Medullary Thyroid Carcinoma, Familial:

idTitleAuthorsYear
1
RET Germline Mutations Identified by Exome Sequencing in a Chinese Multiple Endocrine Neoplasia Type 2A/Familial Medullary Thyroid Carcinoma Family. (21655256)
2011
2
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
3
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
4
Medullary thyroid carcinoma--familial or sporadic disease?]. (7974404)
1994

Variations for Medullary Thyroid Carcinoma, Familial

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

62 (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 Medullary Thyroid Carcinoma, Familial:

6 (show all 16)
id Gene Variation 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

Cosmic variations for Medullary Thyroid Carcinoma, Familial:

7 (show all 82)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
11237917RETthyroid,NS,carcinoma,medullary carcinoma3
287268RETthyroid,NS,carcinoma,medullary carcinoma3
326639RETthyroid,NS,carcinoma,medullary carcinoma3
41223553RETthyroid,NS,carcinoma,medullary carcinoma3
529803RETthyroid,NS,carcinoma,medullary carcinoma3
6986RETthyroid,NS,carcinoma,medullary carcinoma3
71666664RETthyroid,NS,carcinoma,medullary carcinoma3
829805RETthyroid,NS,carcinoma,medullary carcinoma3
9978RETthyroid,NS,carcinoma,medullary carcinoma3
10249790RETthyroid,NS,carcinoma,medullary carcinoma3
11970RETthyroid,NS,carcinoma,medullary carcinoma3
12961RETthyroid,NS,carcinoma,medullary carcinoma3
13960RETthyroid,NS,carcinoma,medullary carcinoma3
1420890RETthyroid,NS,carcinoma,medullary carcinoma3
15963RETthyroid,NS,carcinoma,medullary carcinoma3
16980RETthyroid,NS,carcinoma,medullary carcinoma3
17958RETthyroid,NS,carcinoma,medullary carcinoma3
183738532RETthyroid,NS,carcinoma,medullary carcinoma3
191237919RETthyroid,NS,carcinoma,medullary carcinoma3
2029806RETthyroid,NS,carcinoma,medullary carcinoma3
211237916RETthyroid,NS,carcinoma,medullary carcinoma3
22971RETthyroid,NS,carcinoma,medullary carcinoma3
23964RETthyroid,NS,carcinoma,medullary carcinoma3
2426387RETthyroid,NS,carcinoma,medullary carcinoma3
2529804RETthyroid,NS,carcinoma,medullary carcinoma3
2620889RETthyroid,NS,carcinoma,medullary carcinoma3
27966RETthyroid,NS,carcinoma,medullary carcinoma3
2826634RETthyroid,NS,carcinoma,medullary carcinoma3
2926388RETthyroid,NS,carcinoma,medullary carcinoma3
30965RETthyroid,NS,carcinoma,medullary carcinoma3
31133167RETthyroid,NS,carcinoma,medullary carcinoma3
3220888RETthyroid,NS,carcinoma,medullary carcinoma3
3387266RETthyroid,NS,carcinoma,medullary carcinoma3
34959RETthyroid,NS,carcinoma,medullary carcinoma3
35249791RETthyroid,NS,carcinoma,medullary carcinoma3
36975RETthyroid,NS,carcinoma,medullary carcinoma3
3726389RETthyroid,NS,carcinoma,medullary carcinoma3
38249789RETthyroid,NS,carcinoma,medullary carcinoma3
3926637RETthyroid,NS,carcinoma,medullary carcinoma3
40974RETthyroid,NS,carcinoma,medullary carcinoma3
4121338RETthyroid,NS,carcinoma,medullary carcinoma3
421237918RETthyroid,NS,carcinoma,medullary carcinoma3
43498HRASthyroid,NS,carcinoma,medullary carcinoma3
44481HRASthyroid,NS,carcinoma,medullary carcinoma3
451732634HRASthyroid,NS,carcinoma,medullary carcinoma3
46489HRASthyroid,NS,carcinoma,medullary carcinoma3
47482HRASthyroid,NS,carcinoma,medullary carcinoma3
48496HRASthyroid,NS,carcinoma,medullary carcinoma3
49304967HRASthyroid,NS,carcinoma,medullary carcinoma3
50949379HRASthyroid,NS,carcinoma,medullary carcinoma3
51499HRASthyroid,NS,carcinoma,medullary carcinoma3
523736923HRASthyroid,NS,carcinoma,medullary carcinoma3
53521966HRASthyroid,NS,carcinoma,medullary carcinoma3
54486HRASthyroid,NS,carcinoma,medullary carcinoma3
55552KRASthyroid,NS,carcinoma,medullary carcinoma3
56554KRASthyroid,NS,carcinoma,medullary carcinoma3
57553KRASthyroid,NS,carcinoma,medullary carcinoma3
58520KRASthyroid,NS,carcinoma,medullary carcinoma3
5927159KRASthyroid,NS,carcinoma,medullary carcinoma3
60549KRASthyroid,NS,carcinoma,medullary carcinoma3
6119900KRASthyroid,NS,carcinoma,medullary carcinoma3
62518KRASthyroid,NS,carcinoma,medullary carcinoma3
631237927SF3B1thyroid,NS,carcinoma,medullary carcinoma3
641237928SF3B1thyroid,NS,carcinoma,medullary carcinoma3
65583NRASthyroid,NS,carcinoma,medullary carcinoma3
66584NRASthyroid,NS,carcinoma,medullary carcinoma3
671237731CBFA2T3thyroid,NS,carcinoma,medullary carcinoma3
68192447CEP135thyroid,NS,carcinoma,medullary carcinoma3
691237754DISP2thyroid,NS,carcinoma,medullary carcinoma3
701237709ANKRD27thyroid,NS,carcinoma,medullary carcinoma3
71476BRAFthyroid,NS,carcinoma,medullary carcinoma3
721237714ATMthyroid,NS,carcinoma,medullary carcinoma3
731237785FGFR3thyroid,NS,carcinoma,medullary carcinoma3
741237711ARNTthyroid,NS,carcinoma,medullary carcinoma3
751237979ZFHX2thyroid,NS,carcinoma,medullary carcinoma3
761237906PTK6thyroid,NS,carcinoma,medullary carcinoma3
7714320VHLthyroid,NS,carcinoma,medullary carcinoma3
781237953TEX14thyroid,NS,carcinoma,medullary carcinoma3
791237888PIK3C2Athyroid,NS,carcinoma,medullary carcinoma3
801237837MEN1thyroid,NS,carcinoma,medullary carcinoma3
811237972VBP1thyroid,NS,carcinoma,medullary carcinoma3
821237986ZNF555thyroid,NS,carcinoma,medullary carcinoma3

Expression for genes affiliated with Medullary Thyroid Carcinoma, Familial

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

Pathways for genes affiliated with Medullary Thyroid Carcinoma, Familial

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Pathways related to Medullary Thyroid Carcinoma, Familial according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1NTRK1, RET
29.1RET, NTRK1
39.1RET, NTRK1
49.1NTRK1, RET
59.1RET, NTRK1

Compounds for genes affiliated with Medullary Thyroid Carcinoma, Familial

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Compounds related to Medullary Thyroid Carcinoma, Familial according to GeneCards Suite gene sharing:

(show all 28)
idCompoundScoreTop Affiliating Genes
1cipa439.5NTRK1, RET
2regorafenib49 1210.5NTRK1, RET
3catecholamine439.5NTRK1, RET
4choline43 24 1211.5RET, NTRK1
5imatinib43 49 1211.5NTRK1, RET
6phenylalanine439.5NTRK1, RET
7phosphotyrosine439.5NTRK1, RET
812-o-tetradecanoylphorbol 13-acetate439.5RET, NTRK1
9butyrate439.5NTRK1, RET
10pd 98,059439.5NTRK1, RET
11ly294002439.5NTRK1, RET
12wortmannin439.4RET, NTRK1
13paraffin439.4NTRK1, RET
14genistein43 28 59 2 24 1214.4NTRK1, RET
15dopamine43 28 24 1212.4RET, NTRK1
16aspartate439.4NTRK1, RET
17cyclic amp43 2410.4NTRK1, RET
18testosterone43 59 24 1212.4NTRK1, RET
19oligonucleotide439.4RET, NTRK1
20vegf439.3NTRK1, RET
21phosphatidylinositol439.3NTRK1, RET
22threonine439.3RET, NTRK1
23alanine439.2NTRK1, RET
24adp43 28 2411.2NTRK1, RET
25Adenosine triphosphate24 1210.1RET, NTRK1
26cysteine439.1NTRK1, RET
27retinoic acid43 2410.0NTRK1, RET
28atp43 289.8NTRK1, RET

GO Terms for genes affiliated with Medullary Thyroid Carcinoma, Familial

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Cellular components related to Medullary Thyroid Carcinoma, Familial according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1receptor complexGO:00432359.1NTRK1, RET

Biological processes related to Medullary Thyroid Carcinoma, Familial according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transmembrane receptor protein tyrosine kinase signaling pathwayGO:00071699.2NTRK1, RET
2positive regulation of neuron projection developmentGO:00109769.1NTRK1, RET
3protein phosphorylationGO:00064689.1NTRK1, RET
4peptidyl-tyrosine phosphorylationGO:00181089.0RET, NTRK1
5response to drugGO:00424938.8NTRK1, RET

Molecular functions related to Medullary Thyroid Carcinoma, Familial according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transmembrane receptor protein tyrosine kinase activityGO:00047149.1NTRK1, RET

Products for genes affiliated with Medullary Thyroid Carcinoma, Familial

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Sources for Medullary Thyroid Carcinoma, Familial

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet