MTC
MCID: MDL022
MIFTS: 63

Medullary Thyroid Carcinoma, Familial (MTC) malady

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases, Endocrine diseases, Cancer diseases

Aliases & Classifications for Medullary Thyroid Carcinoma, Familial

Aliases & Descriptions for Medullary Thyroid Carcinoma, Familial:

Name: Medullary Thyroid Carcinoma, Familial 54
Medullary Thyroid Carcinoma 54 12 56 66 13 14
Familial Medullary Thyroid Carcinoma 12 24 56 14 69
Thyroid Carcinoma, Familial Medullary 54 12 52
Familial Medullary Thyroid Cancer 24 29
Thyroid Carcinoma, Medullary 50 29
Thyroid Medullary Carcinoma 12 14
Thyroid Cancer, Medullary 50 42
Mtc 56 66
Medullary Carcinoma of the Thyroid Gland 12
Ultimobranchial Thyroid Tumour 12
Medullary Carcinoma of Thyroid 69
Ultimobranchial Thyroid Tumor 12
Thyroid Carcinoma Medullary 52
Medullary Thyroid Cancer 50
Familial Mtc 56
Fmtc 24

Characteristics:

Orphanet epidemiological data:

56
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;

HPO:

32
medullary thyroid carcinoma, familial:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 155240
Disease Ontology 12 DOID:0050547 DOID:3973
MeSH 42 C536914
NCIt 47 C3879
MESH via Orphanet 43 C536914 C536911
UMLS via Orphanet 70 C0238462 C1833921
ICD10 via Orphanet 34 C73
MedGen 40 C1833921
UMLS 69 C0238462

Summaries for Medullary Thyroid Carcinoma, Familial

OMIM : 54 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 medullary thyroid carcinoma, is related to ntrk1-related familial medullary thyroid carcinoma and multiple endocrine neoplasia iia, and has symptoms including diarrhea, hyperhidrosis and dysphonia. An important gene associated with Medullary Thyroid Carcinoma, Familial is RET (Ret Proto-Oncogene), and among its related pathways/superpathways are Signaling by GPCR and Peptide ligand-binding receptors. The drugs Cometriq and Vandetanib have been mentioned in the context of this disorder. Affiliated tissues include thyroid, endothelial and lung, and related phenotypes are behavior/neurological and homeostasis/metabolism

Disease Ontology : 12 A follicular thyroid carcinoma that has material basis in parafollicular cells.

UniProtKB/Swiss-Prot : 66 Medullary thyroid carcinoma: Rare tumor derived from the C cells of the thyroid. Three hereditary forms are known, that are transmitted in an autosomal dominant fashion: (a) multiple neoplasia type 2A (MEN2A), (b) multiple neoplasia type IIB (MEN2B) and (c) familial MTC (FMTC), which occurs in 25-30% of MTC cases and where MTC is the only clinical manifestation.

Wikipedia : 71 Medullary thyroid cancer (MTC) is a form of thyroid carcinoma which originates from the parafollicular... more...

Related Diseases for Medullary Thyroid Carcinoma, Familial

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 109)
id Related Disease Score Top Affiliating Genes
1 ntrk1-related familial medullary thyroid carcinoma 12.0
2 multiple endocrine neoplasia iia 11.7
3 thyroid cancer, monmedullary, 1 11.2
4 multiple endocrine neoplasia iib 11.1
5 fasting plasma glucose level qtl 5 10.4 NTRK1 RET
6 endophthalmitis 10.3 CALCA TG
7 lung occult small cell carcinoma 10.3 CALCA NTRK1 SST
8 pemphigus foliaceus 10.3 CALCA MEN1 SST
9 wells-jankovic syndrome 10.3 CALCA SST
10 meigel disease 10.3 GDNF RET
11 adult ependymoblastoma 10.3 CALCA CHGA MEN1
12 opioid abuse 10.3 CALCA MEN1 RET
13 vagneur triolle ripert syndrome 10.3 CEACAM5 CHGA
14 alpha-heavy chain disease 10.3 CALCA GAST
15 nodular prostate 10.3 CALCA RET TG
16 waardenburg syndrome, type 4a 10.3 EDNRB RET
17 spinal stenosis 10.3 CALCA CHGA SST
18 vestibulocochlear nerve disease 10.3 GDNF RET SST
19 cowper gland carcinoma 10.3 CHGA MEN1 RET
20 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 10.3 OSMR RET
21 uterine ligament cancer 10.3 MEN1 SST SSTR2
22 myoepithelial carcinoma 10.3 CHGA NTRK1 SST
23 connective tissue cancer 10.3 CALCA GDNF RET
24 non-syndromic x-linked intellectual disability 10.3 CHGA RET SST
25 ampulla of vater mucinous adenocarcinoma 10.3 CHGA NTRK1 SSTR2
26 vulvar keratoacanthoma-like carcinoma 10.3 CEACAM5 CHGA
27 tmem70 defect 10.3 NKX2-1 RET TG
28 breast secretory carcinoma 10.3 CHGA SST SSTR2
29 parachordoma 10.3 NKX2-1 RET TG
30 shprintzen-goldberg syndrome 10.3 EDNRB GDNF RET
31 infertility 10.3 NKX2-1 RET TG
32 autoimmune hemolytic anemia 10.3 CALCA RET TG
33 ariboflavinosis 10.3 EDNRB GDNF RET
34 immune system organ benign neoplasm 10.3 MEN1 SST TG
35 spinal meningioma 10.3 EDNRB GDNF RET
36 autoimmune pancreatitis 10.3 CHGA GAST
37 parathyroid carcinoma 10.3 CALCA CHGA MEN1 RET
38 exanthema subitum 10.2 CALCA NKX2-1 TG
39 childhood teratocarcinoma of the testis 10.2 CALCA CHGA RET TG
40 cardioauditory syndrome of sanchez cascos 10.2 CALCA CHGA MEN1 SST
41 neuritis 10.2 SST SSTR2 SSTR5
42 testicular trophoblastic tumor 10.2 CALCA CEACAM5 CHGA
43 chronic infections, due to mbl deficiency 10.2 EDNRB GDNF RET
44 strabismus 10.2 CEACAM5 MEN1 TG
45 rheumatic encephalitis 10.2 MEN1 SST SSTR5
46 skin pilomatrix carcinoma 10.2 EDNRB GDNF GFRA1 RET
47 ascariasis 10.2 SST SSTR2
48 secondary syphilis 10.2 CHGA GAST SST
49 brain edema 10.2 CHGA GAST SST
50 gastrinoma 10.2 CALCA NKX2-1 RET TG

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



Diseases related to Medullary Thyroid Carcinoma, Familial

Symptoms & Phenotypes for Medullary Thyroid Carcinoma, Familial

Symptoms by clinical synopsis from OMIM:

155240

Clinical features from OMIM:

155240

Human phenotypes related to Medullary Thyroid Carcinoma, Familial:

56 32 (show all 14)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diarrhea 56 32 Frequent (79-30%) HP:0002014
2 hyperhidrosis 56 32 Frequent (79-30%) HP:0000975
3 dysphonia 56 32 Occasional (29-5%) HP:0001618
4 dysphagia 56 32 Frequent (79-30%) HP:0002015
5 weight loss 56 32 Occasional (29-5%) HP:0001824
6 pheochromocytoma 56 32 Occasional (29-5%) HP:0002666
7 neoplasm of the lung 56 32 Occasional (29-5%) HP:0100526
8 lymphadenopathy 56 32 Frequent (79-30%) HP:0002716
9 abnormal liver parenchyma morphology 56 32 Occasional (29-5%) HP:0030146
10 medullary thyroid carcinoma 56 32 Obligate (100%) HP:0002865
11 nodular goiter 56 32 Very frequent (99-80%) HP:0005994
12 elevated calcitonin 56 32 Very frequent (99-80%) HP:0003528
13 neoplasm of the skeletal system 56 32 Occasional (29-5%) HP:0010622
14 primary hyperparathyroidism 56 32 Occasional (29-5%) HP:0008200

MGI Mouse Phenotypes related to Medullary Thyroid Carcinoma, Familial:

44 (show all 11)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.31 CALCB CCKBR EDNRB ESR2 NKX2-1 NTRK1
2 homeostasis/metabolism MP:0005376 10.24 CCKBR CHGA EDNRB ESR2 GAST MEN1
3 growth/size/body region MP:0005378 10.22 CCKBR CHGA EDNRB ESR2 GDNF MEN1
4 endocrine/exocrine gland MP:0005379 10.21 CCKBR CHGA EDNRB ESR2 GAST GDNF
5 digestive/alimentary MP:0005381 10.2 SST SSTR2 CCKBR EDNRB ESR2 GAST
6 cardiovascular system MP:0005385 10.18 CALCB CCKBR CHGA EDNRB ESR2 GDNF
7 immune system MP:0005387 10.06 CCKBR EDNRB ESR2 GAST GDNF GFRA1
8 muscle MP:0005369 9.8 ESR2 GDNF GFRA1 MEN1 NTRK1 RET
9 nervous system MP:0003631 9.8 CALCB CCKBR EDNRB ESR2 GDNF GFRA1
10 neoplasm MP:0002006 9.7 CALCB EDNRB ESR2 GAST MEN1 NKX2-1
11 renal/urinary system MP:0005367 9.23 CALCB CCKBR CHGA EDNRB ESR2 GDNF

Drugs & Therapeutics for Medullary Thyroid Carcinoma, Familial

FDA approved drugs:

id Drug Name Active Ingredient(s) 17 Company Approval Date
1
Cometriq 17 46 CABOZANTINIB S-MALATE Exelixis Approved November 2012
2
Vandetanib 17 46 vandetanib AstraZeneca Approved April 2011

Drugs for Medullary Thyroid Carcinoma, Familial (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 194)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 tyrosine Nutraceutical Phase 4,Phase 2,Phase 1
2
Doxorubicin Approved, Investigational Phase 3,Phase 1,Phase 2 23214-92-8 31703
3
Paclitaxel Approved, Vet_approved Phase 3,Phase 1 33069-62-4 36314
4
Trastuzumab Approved, Investigational Phase 3,Phase 1 180288-69-1 9903
5
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
6
Epirubicin Approved Phase 3 56420-45-2 41867
7
Fluorouracil Approved Phase 3 51-21-8 3385
8
Pertuzumab Approved Phase 3 145040-37-5, 380610-27-5 2540
9
Doxil Approved June 1999 Phase 3,Phase 1,Phase 2 31703
10
Docetaxel Approved May 1996, Investigational Phase 3,Phase 1,Phase 2 114977-28-5 148124 9877265
11 3-Iodobenzylguanidine Phase 3
12 Radiopharmaceuticals Phase 3
13 Calcium, Dietary Phase 3,Phase 1,Phase 2
14 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1
15 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1
16 Immunosuppressive Agents Phase 3,Phase 2,Phase 1
17 Calcimimetic Agents Phase 3
18 Cinacalcet Hydrochloride Phase 3
19 Hormone Antagonists Phase 3,Phase 2,Phase 1
20 Hormones Phase 3,Phase 2,Phase 1
21 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2,Phase 1
22 Albumin-Bound Paclitaxel Phase 3,Phase 1
23 Alkylating Agents Phase 3,Phase 2,Phase 1
24 Antimetabolites Phase 3,Phase 2,Phase 1
25 Antimetabolites, Antineoplastic Phase 3,Phase 2,Phase 1
26 Antimitotic Agents Phase 3,Phase 1,Phase 2
27 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Phase 1
28 Antineoplastic Agents, Phytogenic Phase 3,Phase 2,Phase 1
29 Topoisomerase Inhibitors Phase 3,Phase 1,Phase 2
30 Ado-trastuzumab emtansine Phase 3
31 Antirheumatic Agents Phase 3,Phase 1,Phase 2
32 Chelating Agents Phase 3
33 Maytansine Phase 3
34 taxane Phase 3
35
Loperamide Approved Phase 1, Phase 2 53179-11-6 3955
36
Everolimus Approved Phase 2,Phase 1 159351-69-6 6442177
37
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1 22916-47-8 4189
38
Sirolimus Approved, Investigational Phase 2,Phase 1 53123-88-9 5284616 6436030 46835353
39
Salmon Calcitonin Approved, Investigational Phase 2,Phase 1 47931-85-1 16129616
40
Bortezomib Approved, Investigational Phase 1, Phase 2 179324-69-7 387447 93860
41
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
42
Histamine Approved, Investigational Phase 1, Phase 2 75614-87-8, 51-45-6 774
43
Lenograstim Approved Phase 1, Phase 2 135968-09-1
44
Panobinostat Approved, Investigational Phase 2 404950-80-7 6918837
45
Irinotecan Approved, Investigational Phase 2 97682-44-5, 100286-90-6 60838
46
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
47
Lenvatinib Approved Phase 2 417716-92-8
48
Capecitabine Approved, Investigational Phase 2,Phase 1 154361-50-9 60953
49
Vorinostat Approved, Investigational Phase 2 149647-78-9 5311
50
Gefitinib Approved, Investigational Phase 2 184475-35-2 123631

Interventional clinical trials:

(show top 50) (show all 115)
id Name Status NCT ID Phase
1 Radiolabeled Molecules for Medullary Thyroid Cancer Recruiting NCT01915485 Phase 4
2 A Study of Two Different Doses of Cabozantinib (XL184) in Progressive, Metastatic Medullary Thyroid Cancer Recruiting NCT01896479 Phase 4
3 To Compare The Effects Of Two Doses Of Vandetanib In Patients With Advanced Medullary Thyroid Cancer Active, not recruiting NCT01496313 Phase 4
4 123I-MIBG Scintigraphy in Patients Being Evaluated for Neuroendocrine Tumors Unknown status NCT01373736 Phase 3
5 Cinacalcet to Treat Familial Primary Hyperparathyroidism Completed NCT00325104 Phase 3
6 Study of Anlotinib in Patients With Medullary Thyroid Carcinoma(ALTER01031) Recruiting NCT02586350 Phase 2, Phase 3
7 Efficacy of XL184 (Cabozantinib) in Advanced Medullary Thyroid Cancer Active, not recruiting NCT00704730 Phase 3
8 An Efficacy Study Comparing ZD6474 to Placebo in Medullary Thyroid Cancer Active, not recruiting NCT00410761 Phase 3
9 Study to Determine if Contacting Patients With MTC More Frequently Results in Earlier Detection and Treatment of Signs and Symptoms of AEs and Thus a Decrease in the Percentage of Time Patients Experience AEs During First 12 Months on Vandetanib Treatment Active, not recruiting NCT01298323 Phase 3
10 A Study of Trastuzumab Emtansine (Kadcyla) Plus Pertuzumab (Perjeta) Following Anthracyclines in Comparison With Trastuzumab (Herceptin) Plus Pertuzumab and a Taxane Following Anthracyclines as Adjuvant Therapy in Participants With Operable HER2-Positive Active, not recruiting NCT01966471 Phase 3
11 The Efficacy of CASAD in Patients With Diarrhea Related to Medullary Thyroid Cancer Unknown status NCT01739634 Phase 1, Phase 2
12 Everolimus in Treating Patients With Progressive or Recurrent, Unresectable, or Metastatic Thyroid Cancer Unknown status NCT01118065 Phase 2
13 SOM230 Alone or in Combination With RAD001 in Patients With Medullary Thyroid Cancer Completed NCT01625520 Phase 2
14 Evaluate the Safety and Tolerability of Vandetanib in Japanese Patients With Medullary Thyroid Carcinoma Completed NCT01661179 Phase 1, Phase 2
15 Phase II Two-step Radioimmunotherapy Clinical Study in Medullary Thyroid Carcinoma Completed NCT00467506 Phase 2
16 A Targeted Phase I/II Trial of ZD6474 (Vandetanib; ZACTIMA) Plus the Proteasome Inhibitor, Bortezomib (Velcade ), in Adults With Solid Tumors With a Focus on Hereditary or Sporadic, Locally Advanced or Metastatic Medullary Thyroid Cancer (MTC) Completed NCT00923247 Phase 1, Phase 2
17 Sorafenib Phase II Study for Japanese Anaplastic or Medullary Thyroid Carcinoma Patients Completed NCT02114658 Phase 2
18 ImmunoTEP for Patients With Medullary Thyroid Carcinoma. Completed NCT01730638 Phase 1, Phase 2
19 A Study To Assess ZD6474 (ZACTIMAâ„¢) Monotherapy In Locally Advanced or Metastatic Hereditary Medullary Thyroid Cancer Completed NCT00358956 Phase 2
20 Radioimmunotherapy With or Without Chemotherapy Plus Peripheral Stem Cell Transplantation in Treating Patients With Thyroid Cancer Completed NCT00004048 Phase 1, Phase 2
21 Trial of LBH589 in Metastatic Thyroid Cancer Completed NCT01013597 Phase 2
22 Irinotecan in Treating Patients With Metastatic or Inoperable Thyroid Cancer Completed NCT00100828 Phase 2
23 Thalidomide in Treating Patients With Thyroid Cancer Completed NCT00026533 Phase 2
24 Sunitinib Malate in Treating Patients With Iodine-Refractory Recurrent or Metastatic Thyroid Cancer Completed NCT00519896 Phase 2
25 Tanespimycin in Treating Patients With Inoperable Locoregionally Advanced or Metastatic Thyroid Cancer Completed NCT00118248 Phase 2
26 Thyroid Cancer and Sunitinib Completed NCT00510640 Phase 2
27 Phase II Trial of Sorafenib (Nexavar) in Patients With Advanced Thyroid Cancer Completed NCT00654238 Phase 2
28 Evaluating the Safety and Efficacy of Oral E7080 in Medullary and Iodine-131 Refractory, Unresectable Differentiated Thyroid Cancers, Stratified by Histology Completed NCT00784303 Phase 2
29 A Phase 2, Open-label Study of AMG 706 to Treat Subjects With Locally Advanced or Metastatic Thyroid Cancer Completed NCT00121628 Phase 2
30 Study of Irofulven Plus Capecitabine in Patients With Advanced Thyroid Cancer Completed NCT00124527 Phase 2
31 Suberoylanilide Hydroxamic Acid in Treating Patients With Metastatic and/or Locally Advanced or Locally Recurrent Thyroid Cancer Completed NCT00134043 Phase 2
32 Gefitinib in Treating Patients With Locally Advanced or Metastatic Thyroid Cancer That Did Not Respond to Iodine Therapy Completed NCT00095836 Phase 2
33 Everolimus in Treating Patients With Locally Advanced or Metastatic Thyroid Cancer Completed NCT01164176 Phase 2
34 Capecitabine and Temozolomide for Neuroendocrine Cancers Completed NCT00869050 Phase 2
35 Sunitinib Malate in Patients With Non-Clear Cell Renal Cell Cancer Completed NCT00465179 Phase 2
36 Vaccine Therapy Plus Biological Therapy in Treating Adults With Metastatic Solid Tumors Completed NCT00019331 Phase 2
37 Combination Chemotherapy and Tamoxifen in Treating Patients With Solid Tumors Completed NCT00002608 Phase 2
38 Hepatic Arterial Infusion of Melphalan With Hepatic Perfusion in Treating Patients With Unresectable Liver Cancer Completed NCT00096083 Phase 2
39 Study Of AG-013736 In Patients With 131I-Refractory Thyroid Cancer Completed NCT00389441 Phase 2
40 Pembrolizumab in Recurrent or Metastatic Medullary Thyroid Cancer Recruiting NCT03072160 Phase 2
41 GI-6207 for Advanced Medullary Thyroid Cancer Recruiting NCT01856920 Phase 2
42 Study of Sulfatinib in Treating Advanced Medullary Thyroid Carcinoma and Iodine-refractory Differentiated Thyroid Carcinoma Recruiting NCT02614495 Phase 2
43 Nintedanib(BIBF1120) in Thyroid Cancer Recruiting NCT01788982 Phase 2
44 A Study Using Regorafenib as Second or Third Line Therapy in Metastatic Medullary Thyroid Cancer Recruiting NCT02657551 Phase 2
45 A Phase II, Multicenter Study of the EZH2 Inhibitor Tazemetostat in Adult Subjects With INI1-Negative Tumors or Relapsed/Refractory Synovial Sarcoma Recruiting NCT02601950 Phase 2
46 Safety and Efficacy of Sorafenib in Patients With Advanced Thyroid Cancer: a Phase II Clinical Study Recruiting NCT02084732 Phase 2
47 Vandetanib in Advanced NSCLC With RET Rearrangement Recruiting NCT01823068 Phase 2
48 Cabozantinib in Patients With RET Fusion-Positive Advanced Non-Small Cell Lung Cancer and Those With Other Genotypes: ROS1 or NTRK Fusions or Increased MET or AXL Activity Recruiting NCT01639508 Phase 2
49 Cabozantinib Plus Docetaxel and Prednisone for Advanced Prostate Cancer Recruiting NCT01683994 Phase 1, Phase 2
50 PEN-221 in Somatostatin Receptor 2 Expressing Advanced Cancers Including Neuroendocrine and Small Cell Lung Cancers Recruiting NCT02936323 Phase 1, Phase 2

Search NIH Clinical Center for Medullary Thyroid Carcinoma, Familial

Cochrane evidence based reviews: thyroid cancer, medullary

Genetic Tests for Medullary Thyroid Carcinoma, Familial

Genetic tests related to Medullary Thyroid Carcinoma, Familial:

id Genetic test Affiliating Genes
1 Medullary Thyroid Carcinoma 29
2 Familial Medullary Thyroid Carcinoma 29 24

Anatomical Context for Medullary Thyroid Carcinoma, Familial

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

39
Thyroid, Endothelial, Lung, Liver, Testes

Publications for Medullary Thyroid Carcinoma, Familial

Articles related to Medullary Thyroid Carcinoma, Familial:

id Title Authors Year
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

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

66 (show all 30)
id Symbol AA change Variation ID SNP ID
1 RET p.Cys609Tyr VAR_006306 rs77939446
2 RET p.Cys611Trp VAR_006308 rs80069458
3 RET p.Cys618Arg VAR_006311 rs76262710
4 RET p.Cys618Phe VAR_006312 rs79781594
5 RET p.Cys618Ser VAR_006313 rs79781594
6 RET p.Cys618Tyr VAR_006314 rs79781594
7 RET p.Cys620Gly VAR_006315 rs77316810
8 RET p.Cys620Arg VAR_006316 rs77316810
9 RET p.Cys620Ser VAR_006317 rs77503355
10 RET p.Cys620Phe VAR_006318 rs77503355
11 RET p.Cys630Phe VAR_006320 rs377767405
12 RET p.Cys634Tyr VAR_006325 rs75996173
13 RET p.Cys634Arg VAR_006326 rs75076352
14 RET p.Cys634Ser VAR_006327 rs75076352
15 RET p.Cys634Trp VAR_006328 rs77709286
16 RET p.Glu768Asp VAR_006335 rs78014899
17 RET p.Val804Leu VAR_006336 rs79658334
18 RET p.Val804Met VAR_006337 rs79658334
19 RET p.Met918Thr VAR_006342 rs74799832
20 RET p.Thr946Met VAR_006345
21 RET p.Cys611Gly VAR_009472 rs377767391
22 RET p.Cys630Ser VAR_009477 rs377767405
23 RET p.Cys630Tyr VAR_009478 rs377767405
24 RET p.Leu790Phe VAR_009482 rs75030001
25 RET p.Tyr791Phe VAR_009483 rs77724903
26 RET p.Ser891Ala VAR_009486 rs75234356
27 RET p.Arg844Leu VAR_011582 rs55947360
28 RET p.Ala639Gly VAR_012743
29 RET p.Ala641Gly VAR_012744
30 RET p.Ser922Phe VAR_012745 rs377767432

ClinVar genetic disease variations for Medullary Thyroid Carcinoma, Familial:

6 (show all 28)
id Gene Variation Type Significance SNP ID Assembly Location
1 RET NM_020975.4(RET): c.1901G> A (p.Cys634Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs75996173 GRCh37 Chromosome 10, 43609949: 43609949
2 RET NM_020630.4(RET): c.1901G> T (p.Cys634Phe) single nucleotide variant Pathogenic rs75996173 GRCh37 Chromosome 10, 43609949: 43609949
3 RET NM_020975.4(RET): c.1853G> C (p.Cys618Ser) single nucleotide variant Pathogenic rs79781594 GRCh37 Chromosome 10, 43609097: 43609097
4 RET NM_020630.4(RET): c.1859G> A (p.Cys620Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs77503355 GRCh37 Chromosome 10, 43609103: 43609103
5 RET NM_020975.4(RET): c.1900T> C (p.Cys634Arg) single nucleotide variant Pathogenic/Likely pathogenic rs75076352 GRCh37 Chromosome 10, 43609948: 43609948
6 RET NM_020630.4(RET): c.1902C> G (p.Cys634Trp) single nucleotide variant Pathogenic/Likely pathogenic rs77709286 GRCh37 Chromosome 10, 43609950: 43609950
7 RET NM_020975.4(RET): c.2753T> C (p.Met918Thr) single nucleotide variant Pathogenic/Likely pathogenic rs74799832 GRCh37 Chromosome 10, 43617416: 43617416
8 RET NM_020630.4(RET): c.1859G> T (p.Cys620Phe) single nucleotide variant Pathogenic rs77503355 GRCh37 Chromosome 10, 43609103: 43609103
9 RET NM_020630.4(RET): c.1852T> C (p.Cys618Arg) single nucleotide variant Pathogenic/Likely pathogenic rs76262710 GRCh37 Chromosome 10, 43609096: 43609096
10 RET NM_020630.4(RET): c.2304G> C (p.Glu768Asp) single nucleotide variant Pathogenic/Likely pathogenic rs78014899 GRCh37 Chromosome 10, 43613840: 43613840
11 RET NM_020975.4(RET): c.1826G> A (p.Cys609Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs77939446 GRCh37 Chromosome 10, 43609070: 43609070
12 RET NM_020975.4(RET): c.2370G> C (p.Leu790Phe) single nucleotide variant Pathogenic rs75030001 GRCh37 Chromosome 10, 43613906: 43613906
13 RET NM_020630.4(RET): c.1586_1594dupAGGAGTGTG (p.Cys531_Gly532insGluGluCys) duplication Pathogenic rs377767434 GRCh37 Chromosome 10, 43607610: 43607618
14 RET NM_020630.4(RET): c.1859G> C (p.Cys620Ser) single nucleotide variant Pathogenic rs77503355 GRCh37 Chromosome 10, 43609103: 43609103
15 RET NM_020630.4(RET): c.1825T> C (p.Cys609Arg) single nucleotide variant Pathogenic rs77558292 GRCh37 Chromosome 10, 43609069: 43609069
16 RET NM_020975.4(RET): c.2410G> A (p.Val804Met) single nucleotide variant Pathogenic rs79658334 GRCh37 Chromosome 10, 43614996: 43614996
17 RET NM_020630.4(RET): c.2410G> T (p.Val804Leu) single nucleotide variant Pathogenic rs79658334 GRCh37 Chromosome 10, 43614996: 43614996
18 RET NM_020630.4(RET): c.1597G> T (p.Gly533Cys) single nucleotide variant Pathogenic rs75873440 GRCh37 Chromosome 10, 43607621: 43607621
19 RET NM_020975.4(RET): c.2671T> G (p.Ser891Ala) single nucleotide variant Pathogenic/Likely pathogenic rs75234356 GRCh37 Chromosome 10, 43615592: 43615592
20 RET NM_020975.4(RET): c.1853G> A (p.Cys618Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs79781594 GRCh37 Chromosome 10, 43609097: 43609097
21 RET NM_020630.4(RET): c.1888T> C (p.Cys630Arg) single nucleotide variant Pathogenic/Likely pathogenic rs377767404 GRCh37 Chromosome 10, 43609936: 43609936
22 RET NM_020630.4(RET): c.2735G> C (p.Arg912Pro) single nucleotide variant Pathogenic rs78347871 GRCh37 Chromosome 10, 43617398: 43617398
23 RET NM_020630.4(RET): c.2410G> C (p.Val804Leu) single nucleotide variant Pathogenic/Likely pathogenic rs79658334 GRCh37 Chromosome 10, 43614996: 43614996
24 RET NM_020975.4(RET): c.2647_2648delGCinsTT (p.Ala883Phe) indel Pathogenic/Likely pathogenic rs377767429 GRCh37 Chromosome 10, 43615568: 43615569
25 KRAS NM_033360.3(KRAS): c.182A> T (p.Gln61Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121913240 GRCh37 Chromosome 12, 25380276: 25380276
26 RET NM_020630.4(RET): c.1834_1860del27 (p.Phe612_Cys620del) deletion Likely pathogenic rs121913313 GRCh37 Chromosome 10, 43609078: 43609104
27 RET NM_020975.4(RET): c.1894_1899delGAGCTG (p.Glu632_Leu633del) deletion Likely pathogenic rs121913312 GRCh37 Chromosome 10, 43609942: 43609947
28 RET NM_020630.4(RET): c.2692_2703delGATGTTTATGAA (p.Asp898_Glu901del) deletion Likely pathogenic rs121913309 GRCh37 Chromosome 10, 43615613: 43615624

Cosmic variations for Medullary Thyroid Carcinoma, Familial:

9 (show top 50) (show all 65)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM14320 VHL thyroid,NS,carcinoma,medullary carcinoma c.233A>T p.N78I 36
2 COSM965 RET thyroid,NS,carcinoma,medullary carcinoma c.2753T>C p.M918T 36
3 COSM29806 RET thyroid,NS,carcinoma,medullary carcinoma c.1888T>G p.C630G 36
4 COSM29805 RET thyroid,NS,carcinoma,medullary carcinoma c.1859G>C p.C620S 36
5 COSM966 RET thyroid,NS,carcinoma,medullary carcinoma c.1900T>C p.C634R 36
6 COSM29803 RET thyroid,NS,carcinoma,medullary carcinoma c.1852T>C p.C618R 36
7 COSM3437784 RET thyroid,NS,carcinoma,medullary carcinoma c.2206G>A p.G736R 36
8 COSM974 RET thyroid,NS,carcinoma,medullary carcinoma c.1901G>A p.C634Y 36
9 COSM133167 RET thyroid,NS,carcinoma,medullary carcinoma c.2647G>T p.A883S 36
10 COSM975 RET thyroid,NS,carcinoma,medullary carcinoma c.1902C>G p.C634W 36
11 COSM4170226 RET thyroid,NS,carcinoma,medullary carcinoma c.1946C>T p.S649L 36
12 COSM21338 RET thyroid,NS,carcinoma,medullary carcinoma c.2304G>C p.E768D 36
13 COSM963 RET thyroid,NS,carcinoma,medullary carcinoma c.2701G>A p.E901K 36
14 COSM249792 RET thyroid,NS,carcinoma,medullary carcinoma c.2041C>T p.Q681* 36
15 COSM5598719 RET thyroid,NS,carcinoma,medullary carcinoma c.2137G>A p.E713K 36
16 COSM960 RET thyroid,NS,carcinoma,medullary carcinoma c.2650G>A p.E884K 36
17 COSM959 RET thyroid,NS,carcinoma,medullary carcinoma c.2627C>T p.A876V 36
18 COSM961 RET thyroid,NS,carcinoma,medullary carcinoma c.2723G>A p.R908K 36
19 COSM20889 RET thyroid,NS,carcinoma,medullary carcinoma c.2761G>A p.E921K 36
20 COSM964 RET thyroid,NS,carcinoma,medullary carcinoma c.1888T>C p.C630R 36
21 COSM29804 RET thyroid,NS,carcinoma,medullary carcinoma c.1858T>C p.C620R 36
22 COSM971 RET thyroid,NS,carcinoma,medullary carcinoma c.2296C>T p.P766S 36
23 COSM249789 RET thyroid,NS,carcinoma,medullary carcinoma c.2117T>C p.V706A 36
24 COSM980 RET thyroid,NS,carcinoma,medullary carcinoma c.1853G>A p.C618Y 36
25 COSM958 RET thyroid,NS,carcinoma,medullary carcinoma c.2242G>T p.G748C 36
26 COSM918118 RET thyroid,NS,carcinoma,medullary carcinoma c.2038G>A p.A680T 36
27 COSM249791 RET thyroid,NS,carcinoma,medullary carcinoma c.1843G>A p.E615K 36
28 COSM20888 RET thyroid,NS,carcinoma,medullary carcinoma c.2732G>A p.G911D 36
29 COSM29807 RET thyroid,NS,carcinoma,medullary carcinoma c.1902C>T p.C634C 36
30 COSM978 RET thyroid,NS,carcinoma,medullary carcinoma c.1892A>G p.D631G 36
31 COSM249790 RET thyroid,NS,carcinoma,medullary carcinoma c.2680G>A p.G894S 36
32 COSM970 RET thyroid,NS,carcinoma,medullary carcinoma c.2756C>T p.A919V 36
33 COSM584 NRAS thyroid,NS,carcinoma,medullary carcinoma c.182A>G p.Q61R 36
34 COSM583 NRAS thyroid,NS,carcinoma,medullary carcinoma c.182A>T p.Q61L 36
35 COSM1237679 MDC1 thyroid,NS,carcinoma,medullary carcinoma c.6266C>A p.T2089N 36
36 COSM552 KRAS thyroid,NS,carcinoma,medullary carcinoma c.182A>G p.Q61R 36
37 COSM520 KRAS thyroid,NS,carcinoma,medullary carcinoma c.35G>T p.G12V 36
38 COSM518 KRAS thyroid,NS,carcinoma,medullary carcinoma c.34G>C p.G12R 36
39 COSM549 KRAS thyroid,NS,carcinoma,medullary carcinoma c.181C>A p.Q61K 36
40 COSM19900 KRAS thyroid,NS,carcinoma,medullary carcinoma c.437C>T p.A146V 36
41 COSM517 KRAS thyroid,NS,carcinoma,medullary carcinoma c.34G>A p.G12S 36
42 COSM553 KRAS thyroid,NS,carcinoma,medullary carcinoma c.182A>T p.Q61L 36
43 COSM528 KRAS thyroid,NS,carcinoma,medullary carcinoma c.37G>A p.G13S 36
44 COSM27159 KRAS thyroid,NS,carcinoma,medullary carcinoma c.187G>A p.E63K 36
45 COSM554 KRAS thyroid,NS,carcinoma,medullary carcinoma c.183A>C p.Q61H 36
46 COSM499 HRAS thyroid,NS,carcinoma,medullary carcinoma c.182A>G p.Q61R 36
47 COSM486 HRAS thyroid,NS,carcinoma,medullary carcinoma c.37G>C p.G13R 36
48 COSM1732634 HRAS thyroid,NS,carcinoma,medullary carcinoma c.216G>A p.M72I 36
49 COSM498 HRAS thyroid,NS,carcinoma,medullary carcinoma c.182A>T p.Q61L 36
50 COSM496 HRAS thyroid,NS,carcinoma,medullary carcinoma c.181C>A p.Q61K 36

Copy number variations for Medullary Thyroid Carcinoma, Familial from CNVD:

7 (show all 35)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 32028 1 32695245 32893524 Copy number Medullary thyroid carcinoma
2 32757 1 39124587 39304462 Copy number Medullary thyroid carcinoma
3 35269 1 61892291 62734672 Copy number Medullary thyroid carcinoma
4 37273 1 8867740 10433514 Copy number Medullary thyroid carcinoma
5 50547 11 118321536 118342357 Copy number Medullary thyroid carcinoma
6 72206 12 7696275 8062485 Copy number Medullary thyroid carcinoma
7 75351 13 19254966 19420048 Copy number Medullary thyroid carcinoma
8 84518 14 30525697 30878740 Copy number Medullary thyroid carcinoma
9 94252 15 64420772 64430751 Copy number Medullary thyroid carcinoma
10 98948 16 21925400 21925459 Copy number Medullary thyroid carcinoma
11 109449 17 26108458 26265366 Copy number Medullary thyroid carcinoma
12 110763 17 34217158 34217217 Copy number Medullary thyroid carcinoma
13 120216 18 22018316 22032151 Copy number Medullary thyroid carcinoma
14 126958 19 226925 19692685 Copy number Medullary thyroid carcinoma
15 157094 21 10117898 10144936 Copy number Medullary thyroid carcinoma
16 157510 21 17667404 17854835 Copy number Medullary thyroid carcinoma
17 158515 21 33658674 33833374 Copy number Medullary thyroid carcinoma
18 159066 21 39553689 39729222 Copy number Medullary thyroid carcinoma
19 162875 22 22731196 30657843 Copy number Medullary thyroid carcinoma
20 164568 22 37696964 37715431 Copy number Medullary thyroid carcinoma
21 164574 22 37718669 41848706 Copy number Medullary thyroid carcinoma
22 172669 3 185265380 185329933 Copy number Medullary thyroid carcinoma
23 176173 3 47018884 50073930 Copy number Medullary thyroid carcinoma
24 187975 4 56874636 57555635 Copy number Medullary thyroid carcinoma
25 193680 5 132290783 132440481 Copy number Medullary thyroid carcinoma
26 200565 5 56437065 56573822 Copy number Medullary thyroid carcinoma
27 201422 5 68868713 70422356 Copy number Medullary thyroid carcinoma
28 201578 5 70622715 70698853 Copy number Medullary thyroid carcinoma
29 215281 6 74180226 74456183 Copy number Medullary thyroid carcinoma
30 222366 7 151686560 152069929 Copy number Medullary thyroid carcinoma
31 226221 7 55695924 57405095 Copy number Medullary thyroid carcinoma
32 227764 7 71887076 75407752 Copy number Medullary thyroid carcinoma
33 245564 9 109184070 109357673 Copy number Medullary thyroid carcinoma
34 249823 9 18983768 19243114 Copy number Medullary thyroid carcinoma
35 254446 9 6610160 6848238 Copy number Medullary thyroid carcinoma

Expression for Medullary Thyroid Carcinoma, Familial

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

Pathways for Medullary Thyroid Carcinoma, Familial

GO Terms for Medullary Thyroid Carcinoma, Familial

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

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.61 CALCA CALCB CEACAM5 CHGA ESR2 GAST
2 integral component of plasma membrane GO:0005887 9.23 CCKBR CEACAM5 EDNRB NTRK1 RET SSTR1

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

(show all 22)
id Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.99 EDNRB GDNF GFRA1 NTRK1 RET
2 signal transduction GO:0007165 9.9 CALCB CCKBR EDNRB ESR2 GAST GDNF
3 cell-cell signaling GO:0007267 9.89 CALCA ESR2 SST SSTR1 SSTR2
4 MAPK cascade GO:0000165 9.88 GDNF GFRA1 MEN1 RET
5 cell surface receptor signaling pathway GO:0007166 9.88 CCKBR EDNRB GFRA1 SST SSTR1
6 negative regulation of cell proliferation GO:0008285 9.88 MEN1 NTRK1 SST SSTR1 SSTR2 SSTR5
7 neuropeptide signaling pathway GO:0007218 9.78 CALCA SSTR1 SSTR2
8 response to nutrient GO:0007584 9.74 SST SSTR1 SSTR2
9 forebrain development GO:0030900 9.72 NKX2-1 SSTR1 SSTR2
10 axon guidance GO:0007411 9.72 GDNF GFRA1 NKX2-1 NTRK1 RET
11 regulation of blood pressure GO:0008217 9.71 CALCA CHGA EDNRB
12 G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger GO:0007187 9.69 SSTR1 SSTR2 SSTR5
13 neural crest cell migration GO:0001755 9.63 EDNRB GDNF RET
14 sympathetic nervous system development GO:0048485 9.6 GDNF NTRK1
15 detection of temperature stimulus involved in sensory perception of pain GO:0050965 9.58 CALCA NTRK1
16 peristalsis GO:0030432 9.56 GDNF SSTR2
17 digestion GO:0007586 9.56 CCKBR SST SSTR1 SSTR2
18 response to pain GO:0048265 9.54 CALCA EDNRB RET
19 posterior midgut development GO:0007497 9.43 EDNRB RET
20 enteric nervous system development GO:0048484 9.13 EDNRB GDNF RET
21 somatostatin signaling pathway GO:0038170 8.8 SSTR1 SSTR2 SSTR5
22 G-protein coupled receptor signaling pathway GO:0007186 10.07 CCKBR EDNRB GAST SST SSTR1 SSTR2

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

id Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.46 CALCA GAST SST TG
2 neuropeptide binding GO:0042923 9.13 SSTR1 SSTR2 SSTR5
3 somatostatin receptor activity GO:0004994 8.8 SSTR1 SSTR2 SSTR5

Sources for Medullary Thyroid Carcinoma, Familial

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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