MTC
MCID: THY111
MIFTS: 71

Thyroid Carcinoma, Familial Medullary (MTC)

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

Aliases & Classifications for Thyroid Carcinoma, Familial Medullary

MalaCards integrated aliases for Thyroid Carcinoma, Familial Medullary:

Name: Thyroid Carcinoma, Familial Medullary 58 12 56
Medullary Thyroid Carcinoma 58 12 77 60 76 30 13 6 15
Familial Medullary Thyroid Carcinoma 12 60 30 6 15 74
Mtc 58 60 76
Thyroid Medullary Carcinoma 12 15
Thyroid Cancer, Medullary 54 45
Medullary Thyroid Cancer 54 38
Medullary Carcinoma of the Thyroid Gland 12
Carcinoma, Thyroid, Medullary, Familial 41
Medullary Thyroid Carcinoma, Familial 58
Ultimobranchial Thyroid Tumour 12
Medullary Carcinoma of Thyroid 74
Ultimobranchial Thyroid Tumor 12
Thyroid Carcinoma, Medullary 54
Thyroid Carcinoma Medullary 56
Familial Mtc 60
Fmtc 58
Mtc1 58

Characteristics:

Orphanet epidemiological data:

60
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;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
thyroid carcinoma, familial medullary:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0050547 DOID:3973
OMIM 58 155240
KEGG 38 H01592
MeSH 45 C536914
NCIt 51 C3879
SNOMED-CT 69 32913002
MESH via Orphanet 46 C536911 C536914
ICD10 via Orphanet 35 C73
UMLS via Orphanet 75 C0238462 C1833921
MedGen 43 C1833921

Summaries for Thyroid Carcinoma, Familial Medullary

OMIM : 58 Medullary thyroid carcinoma (MTC) is a malignant tumor of the calcitonin (114130)-secreting parafollicular C cells of the thyroid, and occurs sporadically or as a component of the multiple endocrine neoplasia (MEN) type 2 (see 171400)/familial medullary thyroid carcinoma (FMTC) syndromes (summary by Abu-Amero et al., 2006). Thyroid cancer derived from follicular epithelial cells is referred to as nonmedullary thyroid cancer and comprises several subtypes; see 188550. (155240)

MalaCards based summary : Thyroid Carcinoma, Familial Medullary, also known as medullary thyroid carcinoma, is related to multiple endocrine neoplasia, type iib and multiple endocrine neoplasia, type iia. An important gene associated with Thyroid Carcinoma, Familial Medullary is RET (Ret Proto-Oncogene), and among its related pathways/superpathways are Signaling by GPCR and Peptide ligand-binding receptors. The drugs tyrosine and Parathyroid hormone have been mentioned in the context of this disorder. Affiliated tissues include thyroid, lymph node and testes, and related phenotypes are medullary thyroid carcinoma and nodular goiter

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

UniProtKB/Swiss-Prot : 76 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 : 77 Medullary thyroid cancer is a form of thyroid carcinoma which originates from the parafollicular cells... more...

Related Diseases for Thyroid Carcinoma, Familial Medullary

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

(show top 50) (show all 241)
# Related Disease Score Top Affiliating Genes
1 multiple endocrine neoplasia, type iib 32.6 RET MEN1 GFRA1 GDNF CALCA
2 multiple endocrine neoplasia, type iia 32.6 RET MEN1 GFRA1 GDNF CALCA
3 thyroid cancer, nonmedullary, 2 31.3 CALCA CALCB CHGA GDNF MEN1 NKX2-1
4 neuroma 31.2 RET GDNF CALCA
5 paraganglioma 31.1 SST RET CHGA
6 thyroiditis 31.0 TG RET CALCA
7 parathyroid adenoma 31.0 RET MEN1 CHGA CALCA
8 adenoma 30.9 SSTR5 SST RET MEN1 KRAS
9 carcinoid syndrome 30.8 SST MEN1 CHGA CALCA
10 hyperparathyroidism 30.7 RET MEN1 CHGA CALCA
11 nodular goiter 30.7 TG RET CALCA
12 hypothyroidism 30.7 TG RET NKX2-1 CALCA
13 ectopic cushing syndrome 30.6 SSTR1 SST RET MEN1
14 primary hyperparathyroidism 30.6 RET MEN1 CHGA CALCA
15 goiter 30.6 TG NKX2-1 CALCA
16 papillary carcinoma 30.5 TG RET NKX2-1 CALCA
17 ganglioneuroma 30.5 RET NTRK1 CHGA
18 multiple endocrine neoplasia 30.5 RET MEN1 GDNF CHGA CALCA
19 somatostatinoma 30.5 SST CHGA CALCA
20 endocrine gland cancer 30.5 TG SST RET MEN1 KRAS CHGA
21 hashimoto thyroiditis 30.5 TG RET CALCA
22 multiple endocrine neoplasia, type i 30.4 SST RET MEN1 CHGA
23 pituitary tumors 30.4 SSTR5 SST MEN1
24 papillary thyroid microcarcinoma 30.4 TG NKX2-1 CALCA
25 insulinoma 30.4 SST MEN1 CHGA
26 hemangioma 30.3 RET NKX2-1 KRAS CHGA
27 meningioma, familial 30.2 SSTR2 SST MEN1
28 differentiated thyroid carcinoma 30.2 TG RET NTRK1 NKX2-1 KRAS
29 neuroendocrine tumor 30.1 ASCL1 CALCA CCK CHGA MEN1 NKX2-1
30 small cell cancer of the lung 29.9 SSTR2 SST NKX2-1 MALAT1 CHGA CALCA
31 thyroid cancer 29.8 CALCA CCKBR CHGA GDNF GFRA1 KRAS
32 pheochromocytoma 29.8 SSTR1 SST RET NTRK1 MEN1 GDNF
33 thyroid cancer, nonmedullary, 4 11.2
34 thyroid cancer, nonmedullary, 5 11.2
35 thyroid cancer, nonmedullary, 1 11.0
36 thyroid cancer, nonmedullary, 3 11.0
37 wdha syndrome 10.5 SST CALCA
38 medullary sponge kidney 10.5 RET GDNF
39 mucoepidermoid thyroid carcinoma 10.5 TG CALCA
40 thyroid carcinoma, hurthle cell 10.5 TG MALAT1
41 benign struma ovarii 10.5 TG RET
42 pancreatic somatostatinoma 10.5 SST MEN1 CALCA
43 prolactin producing pituitary tumor 10.5 SST NTRK1 CALCA
44 gastrinoma 10.5 SST MEN1 CHGA
45 parathyroid gland disease 10.5 RET MEN1 CALCA
46 suppurative thyroiditis 10.5 TG CALCA
47 duodenum cancer 10.5 SST MEN1 KRAS
48 parathyroid carcinoma 10.5 RET MEN1 CALCA
49 thyroid sarcoma 10.5 TG CALCA
50 causalgia 10.5 NTRK1 GDNF CALCA

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



Diseases related to Thyroid Carcinoma, Familial Medullary

Symptoms & Phenotypes for Thyroid Carcinoma, Familial Medullary

Human phenotypes related to Thyroid Carcinoma, Familial Medullary:

60 33 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 medullary thyroid carcinoma 60 33 obligate (100%) Obligate (100%) HP:0002865
2 nodular goiter 60 33 hallmark (90%) Very frequent (99-80%) HP:0005994
3 elevated calcitonin 60 33 hallmark (90%) Very frequent (99-80%) HP:0003528
4 hyperhidrosis 60 33 frequent (33%) Frequent (79-30%) HP:0000975
5 dysphagia 60 33 frequent (33%) Frequent (79-30%) HP:0002015
6 diarrhea 60 33 frequent (33%) Frequent (79-30%) HP:0002014
7 lymphadenopathy 60 33 frequent (33%) Frequent (79-30%) HP:0002716
8 dysphonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001618
9 weight loss 60 33 occasional (7.5%) Occasional (29-5%) HP:0001824
10 pheochromocytoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0002666
11 neoplasm of the lung 60 33 occasional (7.5%) Occasional (29-5%) HP:0100526
12 abnormal liver parenchyma morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0030146
13 neoplasm of the skeletal system 60 33 occasional (7.5%) Occasional (29-5%) HP:0010622
14 primary hyperparathyroidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0008200

Symptoms via clinical synopsis from OMIM:

58
Oncology:
medullary thyroid carcinoma
no other primary tumors

Clinical features from OMIM:

155240

MGI Mouse Phenotypes related to Thyroid Carcinoma, Familial Medullary:

47 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.35 ASCL1 CALCB CCKBR ESR2 GDNF GFRA1
2 homeostasis/metabolism MP:0005376 10.3 CALCB CCK CCKBR CHGA ESR2 KRAS
3 growth/size/body region MP:0005378 10.29 ASCL1 CCKBR CHGA ESR2 GDNF KRAS
4 endocrine/exocrine gland MP:0005379 10.27 ASCL1 CCK CCKBR CHGA ESR2 GDNF
5 digestive/alimentary MP:0005381 10.25 CCKBR ESR2 GDNF GFRA1 KRAS MEN1
6 cardiovascular system MP:0005385 10.22 CALCB CCKBR CHGA ESR2 GDNF KRAS
7 nervous system MP:0003631 10.19 ASCL1 CALCB CCK CCKBR CHGA ESR2
8 mortality/aging MP:0010768 10.18 ASCL1 CALCB CHGA ESR2 GDNF GFRA1
9 immune system MP:0005387 10.13 CCKBR ESR2 GDNF GFRA1 KRAS MEN1
10 muscle MP:0005369 9.97 CHGA ESR2 GDNF GFRA1 KRAS MEN1
11 no phenotypic analysis MP:0003012 9.81 ASCL1 CCK CHGA ESR2 KRAS NKX2-1
12 neoplasm MP:0002006 9.8 CALCB ESR2 KRAS MEN1 NKX2-1 RET
13 normal MP:0002873 9.61 ASCL1 CALCB ESR2 GFRA1 KRAS NKX2-1
14 renal/urinary system MP:0005367 9.28 CALCB CCK CCKBR CHGA ESR2 GDNF

Drugs & Therapeutics for Thyroid Carcinoma, Familial Medullary

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

(show top 50) (show all 197)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 tyrosine Phase 4,Phase 2,Phase 1
2
Parathyroid hormone Approved, Investigational Phase 3,Phase 1 9002-64-6
3
Cinacalcet Approved Phase 3 226256-56-0 156419
4
Glucagon Approved Phase 3 16941-32-5
5
Calcium Approved, Nutraceutical Phase 3,Phase 1,Phase 2,Not Applicable 7440-70-2 271
6 Radiopharmaceuticals Phase 3,Phase 1
7 3-Iodobenzylguanidine Phase 3
8 Hormones Phase 3,Phase 2,Phase 1,Not Applicable
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2,Phase 1
10 Calcium, Dietary Phase 3,Phase 1,Phase 2,Not Applicable
11 Hormone Antagonists Phase 3,Phase 2,Phase 1
12 Calcimimetic Agents Phase 3
13 rGLP-1 protein Phase 3
14 Glucagon-Like Peptide 1 Phase 3
15 Incretins Phase 3
16
Loperamide Approved Phase 1, Phase 2 53179-11-6 3955
17
Everolimus Approved Phase 2,Phase 1 159351-69-6 6442177 70789204
18
Sirolimus Approved, Investigational Phase 2,Phase 1 53123-88-9 46835353 6436030 5284616
19
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1 22916-47-8 4189
20
Somatostatin Approved, Investigational Phase 2,Phase 1 38916-34-6, 51110-01-1 53481605
21
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
22
nivolumab Approved Phase 2,Phase 1 946414-94-4
23
Ipilimumab Approved Phase 2,Phase 1 477202-00-9
24
Pasireotide Approved Phase 2 396091-73-9 9941444
25
Histamine Approved, Investigational Phase 1, Phase 2 51-45-6 774
26
Salmon Calcitonin Approved, Investigational Phase 2,Phase 1,Not Applicable,Early Phase 1 47931-85-1 16129616
27
Iodine Approved, Investigational Phase 2,Not Applicable 7553-56-2 807
28
Pembrolizumab Approved Phase 2 1374853-91-4
29
Bortezomib Approved, Investigational Phase 1, Phase 2 179324-69-7 387447 93860
30
Lithium carbonate Approved Phase 2 554-13-2
31
Dacarbazine Approved, Investigational Phase 1, Phase 2 4342-03-4 5351166
32
Capecitabine Approved, Investigational Phase 1, Phase 2,Phase 2 154361-50-9 60953
33
Dopamine Approved Phase 2,Not Applicable 62-31-7, 51-61-6 681
34
Levodopa Approved Phase 2 59-92-7 6047
35
Ponatinib Approved, Investigational Phase 2 943319-70-8 24826799
36
Doxorubicin Approved, Investigational Phase 2,Phase 1 23214-92-8 31703
37
Gemcitabine Approved Phase 2 95058-81-4 60750
38
Daunorubicin Approved Phase 2 20830-81-3 30323
39
Ixazomib Approved, Investigational Phase 2 1072833-77-2
40
Nintedanib Approved Phase 2 656247-17-5 56843413
41
Lenograstim Approved, Investigational Phase 1, Phase 2 135968-09-1
42
Panobinostat Approved, Investigational Phase 2 404950-80-7 6918837
43
Irinotecan Approved, Investigational Phase 2 100286-90-6, 97682-44-5 60838
44
Sunitinib Approved, Investigational Phase 2 557795-19-4, 341031-54-7 5329102
45
Lenvatinib Approved, Investigational Phase 2 417716-92-8
46
Salicylic acid Approved, Investigational, Vet_approved Phase 2 69-72-7 338
47
Niraparib Approved, Investigational Phase 1, Phase 2 1038915-60-4 24958200
48
Docetaxel Approved, Investigational Phase 1, Phase 2 114977-28-5 148124
49
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
50
Temozolomide Approved, Investigational Phase 2,Phase 1 85622-93-1 5394

Interventional clinical trials:

(show top 50) (show all 127)
# Name Status NCT ID Phase Drugs
1 Radiolabeled Molecules for Medullary Thyroid Cancer Unknown status NCT01915485 Phase 4
2 A Study of Two Different Doses of Cabozantinib (XL184) in Progressive, Metastatic Medullary Thyroid Cancer Recruiting NCT01896479 Phase 4 Cabozantinib (XL184) 140 mg;Cabozantinib (XL184) 60 mg;Placebo tablet;Placebo capsule
3 To Compare The Effects Of Two Doses Of Vandetanib In Patients With Advanced Medullary Thyroid Cancer Active, not recruiting NCT01496313 Phase 4 300mg vandetanib;150mg vandetanib
4 123I-MIBG Scintigraphy in Patients Being Evaluated for Neuroendocrine Tumors Unknown status NCT01373736 Phase 3 123I-meta-iodobenzylguanidine
5 Study of Anlotinib in Patients With Medullary Thyroid Carcinoma(ALTER01031) Recruiting NCT02586350 Phase 2, Phase 3 Anlotinib;Placebo
6 Efficacy of XL184 (Cabozantinib) in Advanced Medullary Thyroid Cancer Active, not recruiting NCT00704730 Phase 3 XL184;Placebo
7 An Efficacy Study Comparing ZD6474 to Placebo in Medullary Thyroid Cancer Active, not recruiting NCT00410761 Phase 3 ZD6474 (Vandetanib)
8 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 Vandetanib
9 Cinacalcet to Treat Familial Primary Hyperparathyroidism Completed NCT00325104 Phase 3
10 A Study to Evaluate Pharmacokinetics, Safety and Efficacy of Albiglutide in Pediatric Subjects With Type 2 Diabetes Mellitus Withdrawn NCT03015519 Phase 3 Albiglutide;Placebo
11 The Efficacy of CASAD in Patients With Diarrhea Related to Medullary Thyroid Cancer Unknown status NCT01739634 Phase 1, Phase 2 CASAD
12 A Phase II Study of Anlotinib in MTC Patients Unknown status NCT01874873 Phase 2 Anlotinib
13 Everolimus in Treating Patients With Progressive or Recurrent, Unresectable, or Metastatic Thyroid Cancer Unknown status NCT01118065 Phase 2 everolimus
14 177Lutetium-DOTA-Octreotate Therapy in Somatostatin Receptor-Expressing Neuroendocrine Neoplasms Unknown status NCT01237457 Phase 2 177Lu-DOTATATE
15 Vandetanib in Advanced NSCLC With RET Rearrangement Unknown status NCT01823068 Phase 2 Vandetanib
16 Sorafenib Tosylate in Treating Patients With Metastatic, Locally Advanced, or Recurrent Medullary Thyroid Cancer Active, not recruiting NCT00390325 Phase 2 Sorafenib Tosylate
17 Evaluate the Safety and Tolerability of Vandetanib in Japanese Patients With Medullary Thyroid Carcinoma Completed NCT01661179 Phase 1, Phase 2 Vandetanib 300mg
18 Efficacy and Safety Study of Sorafenib to Treat Advanced Medullary Thyroid Carcinoma Withdrawn NCT01736878 Phase 2 Sorafenib
19 Nivolumab Plus Ipilimumab in Patients With Renal Medullary Carcinoma Recruiting NCT03274258 Phase 2 Nivolumab;Ipilimumab
20 SOM230 Alone or in Combination With RAD001 in Patients With Medullary Thyroid Cancer Completed NCT01625520 Phase 2 SOM230 alone or in combination with RAD001.
21 ImmunoTEP for Patients With Medullary Thyroid Carcinoma. Completed NCT01730638 Phase 1, Phase 2 • TF2 and 68 Ga-IMP-288
22 Sorafenib Phase II Study for Japanese Anaplastic or Medullary Thyroid Carcinoma Patients Completed NCT02114658 Phase 2 Sorafenib (Nexavar,BAY43-9006)
23 Phase II Two-step Radioimmunotherapy Clinical Study in Medullary Thyroid Carcinoma Completed NCT00467506 Phase 2 bispecific antibody and di-DTPA-131I
24 Vandetanib to Treat Children and Adolescents With Medullary Thyroid Cancer Active, not recruiting NCT00514046 Phase 1, Phase 2 Vandetanib
25 Study of Sulfatinib in Treating Advanced Medullary Thyroid Carcinoma and Iodine-refractory Differentiated Thyroid Carcinoma Recruiting NCT02614495 Phase 2 Surufatinib
26 QUILT-3.006 for Recurrent Medullary Thyroid Cancer Active, not recruiting NCT01856920 Phase 2
27 Pembrolizumab in Recurrent or Metastatic Medullary Thyroid Cancer Recruiting NCT03072160 Phase 2 Pembrolizumab
28 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) Terminated NCT00923247 Phase 1, Phase 2 Bortezomib;Vandetanib
29 An Initial Study of Lithium in Patients With Medullary Thyroid Cancer Terminated NCT00582712 Phase 2 Lithium carbonate
30 Imatinib in Combination With Dacarbazine and Capecitabine in Medullary Thyroid Carcinoma Terminated NCT00354523 Phase 1, Phase 2 Capecitabine (Xeloda);DTIC-Dome (Dacarbazine);Gleevec (Imatinib Mesylate)
31 Clinical Evaluation of 18F-DOPA Positron Emission Tomography in Medullary Thyroid Cancer Terminated NCT00647140 Phase 2
32 Ponatinib in Advanced or Metastatic Medullary Thyroid Cancer Not yet recruiting NCT03838692 Phase 2 Ponatinib
33 Trial of Ixazomib Combined With Gemcitabine and Doxorubicin in Patients With Renal Medullary Carcinoma Recruiting NCT03587662 Phase 2 Doxorubicin;Gemcitabine;Ixazomib
34 Phase 1/2 Study of LOXO-292 in Patients With Advanced Solid Tumors, RET Fusion-Positive Solid Tumors, and Medullary Thyroid Cancer Recruiting NCT03157128 Phase 1, Phase 2 LOXO-292
35 A Study To Assess ZD6474 (ZACTIMA™) Monotherapy In Locally Advanced or Metastatic Hereditary Medullary Thyroid Cancer Completed NCT00358956 Phase 2 ZD6474 (vandetanib)
36 Ponatinib for Advanced Medullary Thyroid Cancer Terminated NCT01838642 Phase 2 Ponatinib
37 Efficacy and Tolerability of ZD6474 in Patients With Thyroid Cancer Completed NCT00098345 Phase 2 ZD6474 (vandetanib)
38 Nintedanib(BIBF1120) in Thyroid Cancer Active, not recruiting NCT01788982 Phase 2 Nintedanib;Placebo
39 A Study Using Regorafenib as Second or Third Line Therapy in Metastatic Medullary Thyroid Cancer Recruiting NCT02657551 Phase 2 Regorafenib
40 Pasireotide & Everolimus in Adult Patients With Radioiodine-Refractory Differentiated & Medullary Thyroid Cancer Completed NCT01270321 Phase 2 Everolimus;Pasireotide;Everolimus and Pasireotide
41 Radioimmunotherapy With or Without Chemotherapy Plus Peripheral Stem Cell Transplantation in Treating Patients With Thyroid Cancer Completed NCT00004048 Phase 1, Phase 2 doxorubicin hydrochloride
42 Thalidomide in Treating Patients With Thyroid Cancer Completed NCT00026533 Phase 2 thalidomide
43 Trial of LBH589 in Metastatic Thyroid Cancer Completed NCT01013597 Phase 2 LBH589
44 Irinotecan in Treating Patients With Metastatic or Inoperable Thyroid Cancer Terminated NCT00100828 Phase 2 irinotecan hydrochloride
45 Sunitinib Malate in Treating Patients With Thyroid Cancer That Did Not Respond to Iodine I 131 and Cannot Be Removed by Surgery Active, not recruiting NCT00381641 Phase 2 Sunitinib Malate
46 Sunitinib Malate in Treating Patients With Iodine-Refractory Recurrent or Metastatic Thyroid Cancer Completed NCT00519896 Phase 2 sunitinib malate
47 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 Tazemetostat
48 Adaptive Tyrosine Kinase Inhibitor (TKI) Therapy In Patients With Thyroid Cancer Recruiting NCT03630120 Phase 2 Lenvatinib;Sorafenib;Cabozantinib;Vandetanib
49 Thyroid Cancer and Sunitinib Completed NCT00510640 Phase 2 Sunitinib
50 Cabozantinib in Unresectable/Metastatic Adrenocortical Carcinoma Recruiting NCT03370718 Phase 2 Cabozantinib

Search NIH Clinical Center for Thyroid Carcinoma, Familial Medullary

Cochrane evidence based reviews: thyroid cancer, medullary

Genetic Tests for Thyroid Carcinoma, Familial Medullary

Genetic tests related to Thyroid Carcinoma, Familial Medullary:

# Genetic test Affiliating Genes
1 Medullary Thyroid Carcinoma 30
2 Familial Medullary Thyroid Carcinoma 30 NTRK1 RET

Anatomical Context for Thyroid Carcinoma, Familial Medullary

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

42
Thyroid, Lymph Node, Testes, Kidney, Bone, Colon, Pituitary

Publications for Thyroid Carcinoma, Familial Medullary

Articles related to Thyroid Carcinoma, Familial Medullary:

(show top 50) (show all 1787)
# Title Authors Year
1
The role of ultrasound in the diagnosis of the coexistence of primary hyperparathyroidism and non-medullary thyroid carcinoma. ( 30658569 )
2019
2
Whole exome and target sequencing identifies MAP2K5 as novel susceptibility gene for familial non-medullary thyroid carcinoma. ( 30132833 )
2019
3
Diagnostic Accuracy of 18F-FDG PET/CT in Patients With Biochemical Evidence of Recurrent, Residual, or Metastatic Medullary Thyroid Carcinoma. ( 30562193 )
2019
4
An Unusual Case of Medullary Thyroid Carcinoma and A Revision of Current Literature. ( 30574858 )
2019
5
Prognostic value of numbers of metastatic lymph node in medullary thyroid carcinoma: A population-based study using the SEER 18 database. ( 30608412 )
2019
6
Survival and Long-Term Biochemical Cure in Medullary Thyroid Carcinoma in Denmark 1997-2014: A Nationwide Study. ( 30618340 )
2019
7
miR-149-5p inhibits cell proliferation and invasion through targeting GIT1 in medullary thyroid carcinoma. ( 30655777 )
2019
8
Completeness of RET testing in patients with medullary thyroid carcinoma in Denmark 1997-2013: a nationwide study. ( 30666164 )
2019
9
68Ga-DOTANOC and 18F-FDG PET/CT in metastatic medullary thyroid carcinoma: novel correlations with tumoral biomarkers. ( 30684230 )
2019
10
The dilemma of metastatic medullary thyroid carcinoma: when to start systemic treatment. ( 30782103 )
2019
11
Trends in Diagnostics, Surgical Treatment, and Prognostic Factors for Outcomes in Medullary Thyroid Carcinoma in Norway: A Nationwide Population-Based Study. ( 30800639 )
2019
12
Reply to Cirello et al. "Absence of the MAP2K5 germline variants c.G961A and c. T1100C in a wide series of familial non-medullary thyroid carcinoma Italian families." International Journal of Cancer 2019; in press. ( 30828792 )
2019
13
Comprehensive evaluation of medullary thyroid carcinoma before surgery. ( 30829709 )
2019
14
Incidental Finding of Medullary Thyroid Carcinoma Metastasised to Cervical Nodes in a Neck Dissection Specimen ( 30896138 )
2019
15
Cure and survival of sporadic medullary thyroid carcinoma following systematic preoperative calcitonin screening. ( 30903267 )
2019
16
Molecular signatures of medullary thyroid carcinoma by matrix-assisted laser desorption/ionisation mass spectrometry imaging. ( 29581064 )
2019
17
Absence of the MAP2K5 germline variants c.G961A and c.T1100C in a wide series of familial non-medullary thyroid carcinoma Italian families. ( 30828786 )
2019
18
Pregnancy on vandetanib in metastatic medullary thyroid carcinoma associated with multiple endocrine neoplasia type 2B. ( 29457255 )
2018
19
Recontacting Patients with Updated Genetic Testing Recommendations for Medullary Thyroid Carcinoma and Pheochromocytoma or Paraganglioma. ( 29427212 )
2018
20
Coexistence of medullary thyroid carcinoma and recurrent non-functional pituitary adenoma: a case report. ( 30107852 )
2018
21
Chronic diarrhea: The first symptom of a metastatic medullary thyroid carcinoma. ( 28259364 )
2018
22
Update on Multiple Endocrine Neoplasia Type 2: Focus on Medullary Thyroid Carcinoma. ( 30087948 )
2018
23
Bilateral Medullary Thyroid Carcinoma in a 3-Year-Old Female Patient with Multiple Endocrine Neoplasia 2A Syndrome Undergoing Prophylactic Thyroidectomy: Should Current Guidelines Be Revised? ( 30374431 )
2018
24
Incidental Detection of Medullary Thyroid Carcinoma by 68Ga-DOTATATE PET/CT in a Patient With Neuroendocrine Tumor Liver Metastases. ( 29261627 )
2018
25
Synovial sarcoma masquerading as medullary thyroid carcinoma. ( 29873853 )
2018
26
SSTR2A expression in medullary thyroid carcinoma is correlated with longer survival. ( 30128959 )
2018
27
Clinical Validation of the Prognostic Stage Groups of the Eighth-Edition TNM Staging for Medullary Thyroid Carcinoma. ( 30137493 )
2018
28
18F-Fluoride Uptake in Soft Tissue Metastases of Medullary Thyroid Carcinoma as a Marker of Progressive Calcification. ( 30179909 )
2018
29
C-cell hyperplasia in sporadic and familial medullary thyroid carcinoma. ( 30303134 )
2018
30
Medullary Thyroid Carcinoma: Do Ultrasonography and F-DOPA-PET-CT Influence the Initial Surgical Strategy? ( 30306375 )
2018
31
Study on the degradation rule of calcitonin in vitro in patients with medullary thyroid carcinoma. ( 30415778 )
2018
32
Pathological characteristics and genetic features of melanin-producing medullary thyroid carcinoma. ( 30424779 )
2018
33
Medullary thyroid carcinoma with breast metastasis: Two case reports. ( 30461619 )
2018
34
Revised American Thyroid Association Guidelines for the Management of Medullary Thyroid Carcinoma. ( 30478244 )
2018
35
Persistent disease and recurrence in medullary thyroid carcinoma: A case series. ( 30482582 )
2018
36
A novel CCK2/gastrin receptor-localizing radiolabeled peptide probe for personalized diagnosis and therapy of patients with progressive or metastatic medullary thyroid carcinoma: a multicenter phase I GRAN-T-MTC study. ( 30516761 )
2018
37
PD-1/PD-L1 expressions in medullary thyroid carcinoma: Clinicopathologic and prognostic analysis of Chinese population. ( 30528043 )
2018
38
Replication of newly proposed TNM staging system for medullary thyroid carcinoma: a nationwide study. ( 30550378 )
2018
39
Medullary Thyroid Carcinoma: Why Is Specialization Mandatory? ( 30675485 )
2018
40
Medullary Thyroid Carcinoma: Prognostic Variables And Tumour Markers Affecting Survival. ( 30838820 )
2018
41
Can Medullary Thyroid Carcinoma Arise in Thyroglossal Duct Cysts? A Search for Parafollicular C-cells in 41 Resected Cases. ( 28536894 )
2018
42
Serum calcitonin reference values for calcium stimulation tests by electrochemiluminescence immunoassay in Japanese men with non-medullary thyroid carcinoma. ( 28821980 )
2018
43
Medullary Thyroid Carcinoma-We Should Do Better. ( 28973093 )
2018
44
Risk Factors Associated With Reoperation and Disease-Specific Mortality in Patients With Medullary Thyroid Carcinoma. ( 28973144 )
2018
45
Predictive Value of 18F-FDG PET in Patients with Advanced Medullary Thyroid Carcinoma Treated with Vandetanib. ( 29025983 )
2018
46
Metastatic medullary thyroid carcinoma or calcitonin-secreting carcinoid tumor of lung? A diagnostic dilemma in a patient with lung mass and thyroid nodule. ( 29124912 )
2018
47
Long-Term Outcome After Surgery for Medullary Thyroid Carcinoma: A Single-Center Experience. ( 29134313 )
2018
48
Characterization of neuroendocrine tumors in heterozygous mutant MENX rats: a novel model of invasive medullary thyroid carcinoma. ( 29142006 )
2018
49
Outcomes of Children and Adolescents with Advanced Hereditary Medullary Thyroid Carcinoma Treated with Vandetanib. ( 29187393 )
2018
50
Preoperative Clinical and Sonographic Predictors for Lateral Cervical Lymph Node Metastases in Sporadic Medullary Thyroid Carcinoma. ( 29350102 )
2018

Variations for Thyroid Carcinoma, Familial Medullary

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

76 (show all 30)
# 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 Thyroid Carcinoma, Familial Medullary:

6 (show top 50) (show all 128)
# Gene Variation Type Significance SNP ID Assembly Location
1 NTRK1 NM_001007792.1(NTRK1): c.1730G> T (p.Gly577Val) single nucleotide variant Conflicting interpretations of pathogenicity rs6339 GRCh37 Chromosome 1, 156848946: 156848946
2 NTRK1 NM_001007792.1(NTRK1): c.1730G> T (p.Gly577Val) single nucleotide variant Conflicting interpretations of pathogenicity rs6339 GRCh38 Chromosome 1, 156879154: 156879154
3 RET NM_020975.4(RET): c.1901G> A (p.Cys634Tyr) single nucleotide variant Pathogenic rs75996173 GRCh37 Chromosome 10, 43609949: 43609949
4 RET NM_020975.4(RET): c.1901G> A (p.Cys634Tyr) single nucleotide variant Pathogenic rs75996173 GRCh38 Chromosome 10, 43114501: 43114501
5 RET NM_020975.4(RET): c.1901G> T (p.Cys634Phe) single nucleotide variant Pathogenic rs75996173 GRCh37 Chromosome 10, 43609949: 43609949
6 RET NM_020975.4(RET): c.1901G> T (p.Cys634Phe) single nucleotide variant Pathogenic rs75996173 GRCh38 Chromosome 10, 43114501: 43114501
7 RET NM_020975.4(RET): c.1853G> C (p.Cys618Ser) single nucleotide variant Pathogenic rs79781594 GRCh37 Chromosome 10, 43609097: 43609097
8 RET NM_020975.4(RET): c.1853G> C (p.Cys618Ser) single nucleotide variant Pathogenic rs79781594 GRCh38 Chromosome 10, 43113649: 43113649
9 RET NM_020975.5(RET): c.1859G> A (p.Cys620Tyr) single nucleotide variant Pathogenic rs77503355 GRCh37 Chromosome 10, 43609103: 43609103
10 RET NM_020975.5(RET): c.1859G> A (p.Cys620Tyr) single nucleotide variant Pathogenic rs77503355 GRCh38 Chromosome 10, 43113655: 43113655
11 RET NM_020975.5(RET): c.1900T> C (p.Cys634Arg) single nucleotide variant Pathogenic rs75076352 GRCh37 Chromosome 10, 43609948: 43609948
12 RET NM_020975.5(RET): c.1900T> C (p.Cys634Arg) single nucleotide variant Pathogenic rs75076352 GRCh38 Chromosome 10, 43114500: 43114500
13 RET NM_020975.4(RET): c.1902C> G (p.Cys634Trp) single nucleotide variant Pathogenic rs77709286 GRCh37 Chromosome 10, 43609950: 43609950
14 RET NM_020975.4(RET): c.1902C> G (p.Cys634Trp) single nucleotide variant Pathogenic rs77709286 GRCh38 Chromosome 10, 43114502: 43114502
15 RET NM_020975.4(RET): c.2753T> C (p.Met918Thr) single nucleotide variant Pathogenic rs74799832 GRCh37 Chromosome 10, 43617416: 43617416
16 RET NM_020975.4(RET): c.2753T> C (p.Met918Thr) single nucleotide variant Pathogenic rs74799832 GRCh38 Chromosome 10, 43121968: 43121968
17 RET NM_020975.4(RET): c.1852T> C (p.Cys618Arg) single nucleotide variant Pathogenic rs76262710 GRCh37 Chromosome 10, 43609096: 43609096
18 RET NM_020975.4(RET): c.1852T> C (p.Cys618Arg) single nucleotide variant Pathogenic rs76262710 GRCh38 Chromosome 10, 43113648: 43113648
19 RET NM_020975.4(RET): c.2304G> C (p.Glu768Asp) single nucleotide variant Pathogenic/Likely pathogenic rs78014899 GRCh37 Chromosome 10, 43613840: 43613840
20 RET NM_020975.4(RET): c.2304G> C (p.Glu768Asp) single nucleotide variant Pathogenic/Likely pathogenic rs78014899 GRCh38 Chromosome 10, 43118392: 43118392
21 RET NM_020975.4(RET): c.1826G> A (p.Cys609Tyr) single nucleotide variant Pathogenic rs77939446 GRCh37 Chromosome 10, 43609070: 43609070
22 RET NM_020975.4(RET): c.1826G> A (p.Cys609Tyr) single nucleotide variant Pathogenic rs77939446 GRCh38 Chromosome 10, 43113622: 43113622
23 RET NM_020975.4(RET): c.2370G> C (p.Leu790Phe) single nucleotide variant Pathogenic/Likely pathogenic rs75030001 GRCh37 Chromosome 10, 43613906: 43613906
24 RET NM_020975.4(RET): c.2370G> C (p.Leu790Phe) single nucleotide variant Pathogenic/Likely pathogenic rs75030001 GRCh38 Chromosome 10, 43118458: 43118458
25 RET NM_020975.4(RET): c.1859G> C (p.Cys620Ser) single nucleotide variant Pathogenic rs77503355 GRCh37 Chromosome 10, 43609103: 43609103
26 RET NM_020630.5(RET): c.2372A> T (p.Tyr791Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs77724903 GRCh37 Chromosome 10, 43613908: 43613908
27 RET NM_020630.5(RET): c.2372A> T (p.Tyr791Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs77724903 GRCh38 Chromosome 10, 43118460: 43118460
28 RET NM_020975.4(RET): c.2944C> T (p.Arg982Cys) single nucleotide variant risk factor rs17158558 GRCh37 Chromosome 10, 43620335: 43620335
29 RET NM_020975.4(RET): c.2944C> T (p.Arg982Cys) single nucleotide variant risk factor rs17158558 GRCh38 Chromosome 10, 43124887: 43124887
30 RET NM_020630.4(RET): c.1586_1594dupAGGAGTGTG (p.Cys531_Gly532insGluGluCys) duplication Pathogenic rs377767434 GRCh37 Chromosome 10, 43607610: 43607618
31 RET NM_020630.4(RET): c.1586_1594dupAGGAGTGTG (p.Cys531_Gly532insGluGluCys) duplication Pathogenic rs377767434 GRCh38 Chromosome 10, 43112162: 43112170
32 RET NM_020975.4(RET): c.1859G> C (p.Cys620Ser) single nucleotide variant Pathogenic rs77503355 GRCh38 Chromosome 10, 43113655: 43113655
33 RET NM_020975.6(RET): c.1825T> C (p.Cys609Arg) single nucleotide variant Pathogenic rs77558292 GRCh37 Chromosome 10, 43609069: 43609069
34 RET NM_020975.6(RET): c.1825T> C (p.Cys609Arg) single nucleotide variant Pathogenic rs77558292 GRCh38 Chromosome 10, 43113621: 43113621
35 RET NM_020975.4(RET): c.2410G> A (p.Val804Met) single nucleotide variant Pathogenic/Likely pathogenic rs79658334 GRCh37 Chromosome 10, 43614996: 43614996
36 RET NM_020975.4(RET): c.2410G> A (p.Val804Met) single nucleotide variant Pathogenic/Likely pathogenic rs79658334 GRCh38 Chromosome 10, 43119548: 43119548
37 RET NM_020630.4(RET): c.2410G> T (p.Val804Leu) single nucleotide variant Pathogenic rs79658334 GRCh37 Chromosome 10, 43614996: 43614996
38 RET NM_020630.4(RET): c.2410G> T (p.Val804Leu) single nucleotide variant Pathogenic rs79658334 GRCh38 Chromosome 10, 43119548: 43119548
39 RET NM_020975.4(RET): c.1597G> T (p.Gly533Cys) single nucleotide variant Pathogenic rs75873440 GRCh37 Chromosome 10, 43607621: 43607621
40 RET NM_020975.4(RET): c.1597G> T (p.Gly533Cys) single nucleotide variant Pathogenic rs75873440 GRCh38 Chromosome 10, 43112173: 43112173
41 RET NM_020975.4(RET): c.2671T> G (p.Ser891Ala) single nucleotide variant Pathogenic rs75234356 GRCh37 Chromosome 10, 43615592: 43615592
42 RET NM_020975.4(RET): c.2671T> G (p.Ser891Ala) single nucleotide variant Pathogenic rs75234356 GRCh38 Chromosome 10, 43120144: 43120144
43 RET NM_020630.5(RET): c.961G> A (p.Gly321Arg) single nucleotide variant Uncertain significance rs377767388 GRCh37 Chromosome 10, 43601917: 43601917
44 RET NM_020630.5(RET): c.961G> A (p.Gly321Arg) single nucleotide variant Uncertain significance rs377767388 GRCh38 Chromosome 10, 43106469: 43106469
45 RET NM_020975.4(RET): c.1531G> A (p.Glu511Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs201553718 GRCh37 Chromosome 10, 43607555: 43607555
46 RET NM_020975.4(RET): c.1531G> A (p.Glu511Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs201553718 GRCh38 Chromosome 10, 43112107: 43112107
47 RET NM_020975.4(RET): c.1853G> A (p.Cys618Tyr) single nucleotide variant Pathogenic rs79781594 GRCh37 Chromosome 10, 43609097: 43609097
48 RET NM_020975.4(RET): c.1853G> A (p.Cys618Tyr) single nucleotide variant Pathogenic rs79781594 GRCh38 Chromosome 10, 43113649: 43113649
49 RET NM_020975.4(RET): c.1888T> C (p.Cys630Arg) single nucleotide variant Pathogenic rs377767404 GRCh37 Chromosome 10, 43609936: 43609936
50 RET NM_020975.4(RET): c.1888T> C (p.Cys630Arg) single nucleotide variant Pathogenic rs377767404 GRCh38 Chromosome 10, 43114488: 43114488

Cosmic variations for Thyroid Carcinoma, Familial Medullary:

9 (show top 50) (show all 95)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM14320 VHL thyroid,NS,carcinoma,medullary carcinoma c.233A>T p.N78I 3:10142080-10142080 0
2 COSM10654 TP53 thyroid,NS,carcinoma,medullary carcinoma c.637C>T p.R213* 17:7674894-7674894 0
3 COSM6956576 SMARCA4 thyroid,NS,carcinoma,medullary carcinoma c.2120T>C p.I707T 19:11008020-11008020 0
4 COSM29805 RET thyroid,NS,carcinoma,medullary carcinoma c.1859G>C p.C620S 10:43113655-43113655 0
5 COSM965 RET thyroid,NS,carcinoma,medullary carcinoma c.2753T>C p.M918T 10:43121968-43121968 0
6 COSM964 RET thyroid,NS,carcinoma,medullary carcinoma c.1888T>C p.C630R 10:43114488-43114488 0
7 COSM974 RET thyroid,NS,carcinoma,medullary carcinoma c.1901G>A p.C634Y 10:43114501-43114501 0
8 COSM29803 RET thyroid,NS,carcinoma,medullary carcinoma c.1852T>C p.C618R 10:43113648-43113648 0
9 COSM966 RET thyroid,NS,carcinoma,medullary carcinoma c.1900T>C p.C634R 10:43114500-43114500 0
10 COSM133167 RET thyroid,NS,carcinoma,medullary carcinoma c.2647G>T p.A883S 10:43120120-43120120 0
11 COSM29807 RET thyroid,NS,carcinoma,medullary carcinoma c.1902C>T p.C634C 10:43114502-43114502 0
12 COSM959 RET thyroid,NS,carcinoma,medullary carcinoma c.2627C>T p.A876V 10:43120100-43120100 0
13 COSM249789 RET thyroid,NS,carcinoma,medullary carcinoma c.2117T>C p.V706A 10:43114717-43114717 0
14 COSM249790 RET thyroid,NS,carcinoma,medullary carcinoma c.2680G>A p.G894S 10:43120153-43120153 0
15 COSM1237918 RET thyroid,NS,carcinoma,medullary carcinoma c.1900T>A p.C634S 10:43114500-43114500 0
16 COSM6005497 RET thyroid,NS,carcinoma,medullary carcinoma c.1924G>A p.V642I 10:43114524-43114524 0
17 COSM249792 RET thyroid,NS,carcinoma,medullary carcinoma c.2041C>T p.Q681* 10:43114641-43114641 0
18 COSM960 RET thyroid,NS,carcinoma,medullary carcinoma c.2650G>A p.E884K 10:43120123-43120123 0
19 COSM5945770 RET thyroid,NS,carcinoma,medullary carcinoma c.2733T>G p.G911G 10:43121948-43121948 0
20 COSM5945755 RET thyroid,NS,carcinoma,medullary carcinoma c.2771T>C p.F924S 10:43121986-43121986 0
21 COSM963 RET thyroid,NS,carcinoma,medullary carcinoma c.2701G>A p.E901K 10:43120174-43120174 0
22 COSM21338 RET thyroid,NS,carcinoma,medullary carcinoma c.2304G>C p.E768D 10:43118392-43118392 0
23 COSM5598719 RET thyroid,NS,carcinoma,medullary carcinoma c.2137G>A p.E713K 10:43116584-43116584 0
24 COSM975 RET thyroid,NS,carcinoma,medullary carcinoma c.1902C>G p.C634W 10:43114502-43114502 0
25 COSM5945761 RET thyroid,NS,carcinoma,medullary carcinoma c.2256C>T p.Y752Y 10:43116703-43116703 0
26 COSM29804 RET thyroid,NS,carcinoma,medullary carcinoma c.1858T>C p.C620R 10:43113654-43113654 0
27 COSM978 RET thyroid,NS,carcinoma,medullary carcinoma c.1892A>G p.D631G 10:43114492-43114492 0
28 COSM961 RET thyroid,NS,carcinoma,medullary carcinoma c.2723G>A p.R908K 10:43120196-43120196 0
29 COSM4170226 RET thyroid,NS,carcinoma,medullary carcinoma c.1946C>T p.S649L 10:43114546-43114546 0
30 COSM971 RET thyroid,NS,carcinoma,medullary carcinoma c.2296C>T p.P766S 10:43118384-43118384 0
31 COSM918118 RET thyroid,NS,carcinoma,medullary carcinoma c.2038G>A p.A680T 10:43114638-43114638 0
32 COSM29806 RET thyroid,NS,carcinoma,medullary carcinoma c.1888T>G p.C630G 10:43114488-43114488 0
33 COSM20889 RET thyroid,NS,carcinoma,medullary carcinoma c.2761G>A p.E921K 10:43121976-43121976 0
34 COSM6005498 RET thyroid,NS,carcinoma,medullary carcinoma c.1886T>A p.L629Q 10:43114486-43114486 0
35 COSM970 RET thyroid,NS,carcinoma,medullary carcinoma c.2756C>T p.A919V 10:43121971-43121971 0
36 COSM5945757 RET thyroid,NS,carcinoma,medullary carcinoma c.2180G>A p.G727E 10:43116627-43116627 0
37 COSM5945758 RET thyroid,NS,carcinoma,medullary carcinoma c.1804A>G p.I602V 10:43113600-43113600 0
38 COSM5945763 RET thyroid,NS,carcinoma,medullary carcinoma c.1983C>T p.H661H 10:43114583-43114583 0
39 COSM958 RET thyroid,NS,carcinoma,medullary carcinoma c.2242G>T p.G748C 10:43116689-43116689 0
40 COSM5946160 RET thyroid,NS,carcinoma,medullary carcinoma c.1858T>A p.C620S 10:43113654-43113654 0
41 COSM20888 RET thyroid,NS,carcinoma,medullary carcinoma c.2732G>A p.G911D 10:43121947-43121947 0
42 COSM3437784 RET thyroid,NS,carcinoma,medullary carcinoma c.2206G>A p.G736R 10:43116653-43116653 0
43 COSM980 RET thyroid,NS,carcinoma,medullary carcinoma c.1853G>A p.C618Y 10:43113649-43113649 0
44 COSM5945762 RET thyroid,NS,carcinoma,medullary carcinoma c.2249C>G p.A750G 10:43116696-43116696 0
45 COSM249791 RET thyroid,NS,carcinoma,medullary carcinoma c.1843G>A p.E615K 10:43113639-43113639 0
46 COSM5945760 RET thyroid,NS,carcinoma,medullary carcinoma c.2752A>C p.M918L 10:43121967-43121967 0
47 COSM583 NRAS thyroid,NS,carcinoma,medullary carcinoma c.182A>T p.Q61L 1:114713908-114713908 0
48 COSM584 NRAS thyroid,NS,carcinoma,medullary carcinoma c.182A>G p.Q61R 1:114713908-114713908 0
49 COSM6968164 MGA thyroid,NS,carcinoma,medullary carcinoma c.1228G>T p.E410* 15:41696238-41696238 0
50 COSM1237679 MDC1 thyroid,NS,carcinoma,medullary carcinoma c.6266C>A p.T2089N 6:30700469-30700469 0

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

7 (show all 35)
# 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 Thyroid Carcinoma, Familial Medullary

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

Pathways for Thyroid Carcinoma, Familial Medullary

GO Terms for Thyroid Carcinoma, Familial Medullary

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

# Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 9.1 ASCL1 CALCA CCK NTRK1 RET SST

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.96 ASCL1 GDNF GFRA1 NTRK1 RET
2 regulation of signaling receptor activity GO:0010469 9.88 CALCA CALCB CCK GDNF SST TG
3 negative regulation of cell proliferation GO:0008285 9.85 MEN1 NTRK1 SST SSTR1 SSTR2 SSTR5
4 neuron migration GO:0001764 9.77 ASCL1 CCK NKX2-1
5 neuropeptide signaling pathway GO:0007218 9.73 CALCA SSTR1 SSTR2 SSTR5
6 MAPK cascade GO:0000165 9.72 GDNF GFRA1 KRAS MEN1 RET
7 forebrain development GO:0030900 9.7 NKX2-1 SSTR1 SSTR2
8 signal transduction GO:0007165 9.7 CALCB CCK CCKBR ESR2 GDNF KRAS
9 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger GO:0007187 9.67 SSTR1 SSTR2 SSTR5
10 axon guidance GO:0007411 9.65 GDNF GFRA1 NKX2-1 NTRK1 RET
11 epithelial tube branching involved in lung morphogenesis GO:0060441 9.58 KRAS NKX2-1
12 detection of temperature stimulus involved in sensory perception of pain GO:0050965 9.58 CALCA NTRK1
13 enteric nervous system development GO:0048484 9.57 GDNF RET
14 forebrain neuron differentiation GO:0021879 9.55 ASCL1 NKX2-1
15 peristalsis GO:0030432 9.54 GDNF SSTR2
16 glial cell-derived neurotrophic factor receptor signaling pathway GO:0035860 9.51 GFRA1 RET
17 cerebral cortex GABAergic interneuron differentiation GO:0021892 9.48 ASCL1 NKX2-1
18 sympathetic nervous system development GO:0048485 9.33 ASCL1 GDNF NTRK1
19 somatostatin signaling pathway GO:0038170 8.8 SSTR1 SSTR2 SSTR5
20 G protein-coupled receptor signaling pathway GO:0007186 10.06 CALCA CALCB CCK CCKBR SST SSTR1

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

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.56 CALCA CCK SST TG
2 calcitonin receptor binding GO:0031716 9.16 CALCA CALCB
3 neuropeptide binding GO:0042923 9.13 SSTR1 SSTR2 SSTR5
4 somatostatin receptor activity GO:0004994 8.8 SSTR1 SSTR2 SSTR5

Sources for Thyroid Carcinoma, Familial Medullary

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
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45 MeSH
46 MESH via Orphanet
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50 NCI
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55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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