MCID: THY111
MIFTS: 69

Thyroid Carcinoma, Familial Medullary

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

Aliases & Classifications for Thyroid Carcinoma, Familial Medullary

MalaCards integrated aliases for Thyroid Carcinoma, Familial Medullary:

Name: Thyroid Carcinoma, Familial Medullary 57 12 55
Medullary Thyroid Carcinoma 57 12 76 59 75 29 13 6
Familial Medullary Thyroid Carcinoma 12 59 29 6 15 73
Mtc 57 59 75
Thyroid Medullary Carcinoma 12 15
Thyroid Cancer, Medullary 53 44
Medullary Thyroid Cancer 53 37
Medullary Carcinoma of the Thyroid Gland 12
Carcinoma, Thyroid, Medullary, Familial 40
Medullary Thyroid Carcinoma, Familial 57
Ultimobranchial Thyroid Tumour 12
Medullary Carcinoma of Thyroid 73
Ultimobranchial Thyroid Tumor 12
Thyroid Carcinoma, Medullary 53
Thyroid Carcinoma Medullary 55
Familial Mtc 59
Fmtc 57
Mtc1 57

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal dominant


HPO:

32
thyroid carcinoma, familial medullary:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 155240
Disease Ontology 12 DOID:0050547 DOID:3973
MeSH 44 C536914
NCIt 50 C3879
MESH via Orphanet 45 C536914 C536911
UMLS via Orphanet 74 C0238462 C1833921
ICD10 via Orphanet 34 C73
MedGen 42 C1833921
KEGG 37 H01592

Summaries for Thyroid Carcinoma, Familial Medullary

OMIM : 57 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 iia and thyroid cancer, nonmedullary, 1. 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 Cometriq and Vandetanib have been mentioned in the context of this disorder. Affiliated tissues include thyroid, liver and lung, and related phenotypes are hyperhidrosis and dysphonia

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

UniProtKB/Swiss-Prot : 75 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 : 76 Medullary thyroid cancer (MTC) is a form of thyroid carcinoma which originates from the parafollicular... 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 111)
# Related Disease Score Top Affiliating Genes
1 multiple endocrine neoplasia, type iia 32.8 CALCA GDNF GFRA1 MEN1 RET
2 thyroid cancer, nonmedullary, 1 32.1 MALAT1 NKX2-1 NTRK1 RET TG
3 multiple endocrine neoplasia, type iib 31.9 CALCA EDNRB GDNF GFRA1 MEN1 OSMR
4 thyroiditis 31.5 CALCA RET TG
5 thyroid cancer 29.7 CALCA CCKBR CHGA KRAS MALAT1 NKX2-1
6 thyroid cancer, nonmedullary, 2 29.7 CALCA CALCB CHGA EDNRB GDNF MEN1
7 wdha syndrome 11.0 CALCA SST
8 mucoepidermoid thyroid carcinoma 11.0 CALCA TG
9 medullary sponge kidney 11.0 GDNF RET
10 pancreatic gastrinoma 11.0 MEN1 SST
11 lichen amyloidosis 11.0 OSMR RET
12 gastrointestinal neuroendocrine benign tumor 11.0 CHGA SST
13 parathyroid gland disease 11.0 CALCA MEN1 RET
14 pancreatic somatostatinoma 11.0 CALCA MEN1 SST
15 prolactin producing pituitary tumor 11.0 CALCA NTRK1 SST
16 parathyroid carcinoma 11.0 CALCA MEN1 RET
17 duodenum cancer 11.0 KRAS MEN1 SST
18 ganglioneuroma 11.0 CHGA NTRK1 RET
19 adenoma of the pancreas 11.0 CHGA SST
20 benign struma ovarii 11.0 RET TG
21 suppurative thyroiditis 11.0 CALCA TG
22 pancreatic cystadenocarcinoma 10.9 CALCA CHGA KRAS
23 type c thymoma 10.9 SST SSTR2
24 gastric neuroendocrine neoplasm 10.9 CHGA SST
25 thyroid sarcoma 10.9 CALCA TG
26 nodular goiter 10.9 CALCA RET TG
27 neuroma 10.9 CALCA GDNF RET
28 endometrial adenocarcinoma 10.9 ESR2 KRAS MALAT1
29 zollinger-ellison syndrome 10.9 CHGA MEN1 SST
30 periampullary adenoma 10.9 KRAS SST
31 pyloric stenosis 10.9 GDNF RET SST
32 gastrinoma 10.9 CHGA MEN1 SST
33 hormone producing pituitary cancer 10.9 MEN1 SST SSTR2
34 atypical follicular adenoma 10.9 CALCA CHGA TG
35 phaeochromocytoma 10.9 CHGA RET SST
36 somatostatinoma 10.9 CALCA CHGA SST
37 acute thyroiditis 10.9 CALCA CHGA TG
38 endocrine organ benign neoplasm 10.9 MEN1 SST TG
39 von hippel-lindau syndrome 10.9 CHGA MEN1 RET
40 ovarian germ cell teratoma 10.9 NKX2-1 RET TG
41 olfactory neuroblastoma 10.9 CHGA NTRK1 SSTR2
42 ovarian germ cell cancer 10.9 NKX2-1 RET TG
43 thyroid cancer, nonmedullary, 3 10.9
44 struma ovarii 10.9 NKX2-1 RET TG
45 malignant struma ovarii 10.9 NKX2-1 RET TG
46 pituitary carcinoma 10.9 CHGA SST SSTR2
47 paraganglioma 10.9 CHGA RET SST
48 hypoganglionosis 10.9 GDNF RET
49 respiratory system benign neoplasm 10.9 CHGA KRAS NKX2-1
50 duodenal somatostatinoma 10.9 CALCA SST

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

Symptoms via clinical synopsis from OMIM:

57
Oncology:
medullary thyroid carcinoma
no other primary tumors


Clinical features from OMIM:

155240

Human phenotypes related to Thyroid Carcinoma, Familial Medullary:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperhidrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000975
2 dysphonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001618
3 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
4 weight loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0001824
5 pheochromocytoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002666
6 diarrhea 59 32 frequent (33%) Frequent (79-30%) HP:0002014
7 neoplasm of the lung 59 32 occasional (7.5%) Occasional (29-5%) HP:0100526
8 lymphadenopathy 59 32 frequent (33%) Frequent (79-30%) HP:0002716
9 abnormal liver parenchyma morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0030146
10 medullary thyroid carcinoma 59 32 obligate (100%) Obligate (100%) HP:0002865
11 neoplasm of the skeletal system 59 32 occasional (7.5%) Occasional (29-5%) HP:0010622
12 nodular goiter 59 32 hallmark (90%) Very frequent (99-80%) HP:0005994
13 elevated calcitonin 59 32 hallmark (90%) Very frequent (99-80%) HP:0003528
14 primary hyperparathyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0008200

MGI Mouse Phenotypes related to Thyroid Carcinoma, Familial Medullary:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.42 CALCB CCK CCKBR EDNRB ESR2 GDNF
2 homeostasis/metabolism MP:0005376 10.35 CCKBR CHGA EDNRB ESR2 KRAS MEN1
3 growth/size/body region MP:0005378 10.31 CCKBR CHGA EDNRB ESR2 GDNF KRAS
4 endocrine/exocrine gland MP:0005379 10.29 CCK CCKBR CHGA EDNRB ESR2 GDNF
5 cardiovascular system MP:0005385 10.28 KRAS MEN1 NKX2-1 RET SSTR2 CALCB
6 digestive/alimentary MP:0005381 10.26 NKX2-1 RET SST SSTR2 CCKBR EDNRB
7 immune system MP:0005387 10.2 CCKBR EDNRB ESR2 GDNF GFRA1 KRAS
8 mortality/aging MP:0010768 10.18 CALCB CHGA EDNRB ESR2 GDNF GFRA1
9 nervous system MP:0003631 10.16 NTRK1 RET SST SSTR1 SSTR2 TG
10 integument MP:0010771 10.03 CALCB CCKBR EDNRB ESR2 GFRA1 KRAS
11 muscle MP:0005369 9.97 KRAS MEN1 NTRK1 RET EDNRB ESR2
12 neoplasm MP:0002006 9.87 CALCB EDNRB ESR2 KRAS MEN1 NKX2-1
13 no phenotypic analysis MP:0003012 9.81 CCK CHGA ESR2 KRAS NKX2-1 NTRK1
14 normal MP:0002873 9.56 NTRK1 RET SST CALCB ESR2 GFRA1
15 renal/urinary system MP:0005367 9.32 CALCB CCK CCKBR CHGA EDNRB ESR2

Drugs & Therapeutics for Thyroid Carcinoma, Familial Medullary

FDA approved drugs:

# Drug Name Active Ingredient(s) 18 Company Approval Date
1
Cometriq 18 49 CABOZANTINIB S-MALATE Exelixis November 2012
2
Vandetanib 18 49 vandetanib AstraZeneca April 2011

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

(show top 50) (show all 181)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 tyrosine Nutraceutical Phase 4,Phase 2,Phase 1
2 3-Iodobenzylguanidine Phase 3
3 Radiopharmaceuticals Phase 3,Phase 1
4 Calcium, Dietary Phase 3,Phase 1,Phase 2
5 Hormone Antagonists Phase 3,Phase 2,Phase 1
6 Hormones Phase 3,Phase 2,Phase 1
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2,Phase 1
8 Calcimimetic Agents Phase 3
9 Cinacalcet Hydrochloride Phase 3
10 glucagon Phase 3
11 Glucagon-Like Peptide 1 Phase 3
12 rGLP-1 protein Phase 3
13
Loperamide Approved Phase 1, Phase 2 53179-11-6 3955
14
Everolimus Approved Phase 2,Phase 1 159351-69-6 6442177
15
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1 22916-47-8 4189
16
Sirolimus Approved, Investigational Phase 2,Phase 1 53123-88-9 5284616 6436030 46835353
17
Somatostatin Approved, Investigational Phase 2,Phase 1 38916-34-6, 51110-01-1 53481605
18
Histamine Approved, Investigational Phase 1, Phase 2 75614-87-8, 51-45-6 774
19
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
20
Salmon Calcitonin Approved, Investigational Phase 2,Phase 1,Not Applicable 47931-85-1 16129616
21
Doxorubicin Approved, Investigational Phase 1, Phase 2,Phase 2 23214-92-8 31703
22
Lenograstim Approved, Investigational Phase 1, Phase 2 135968-09-1
23
Iodine Approved, Investigational Phase 2,Not Applicable 7553-56-2 807
24
Panobinostat Approved, Investigational Phase 2 404950-80-7 6918837
25
Irinotecan Approved, Investigational Phase 2 97682-44-5, 100286-90-6 60838
26
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
27
Capecitabine Approved, Investigational Phase 2,Phase 1 154361-50-9 60953
28
Dacarbazine Approved, Investigational Phase 2,Phase 1 4342-03-4 5351166
29
Temozolomide Approved, Investigational Phase 2,Phase 1 85622-93-1 5394
30
Vorinostat Approved, Investigational Phase 2 149647-78-9 5311
31
Melphalan Approved Phase 2 148-82-3 4053 460612
32
Pancrelipase Approved, Investigational Phase 2,Phase 1 53608-75-6
33
Gefitinib Approved, Investigational Phase 2,Not Applicable 184475-35-2 123631
34
Aldesleukin Approved Phase 2 85898-30-2, 110942-02-4
35
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
36
Tamoxifen Approved Phase 2 10540-29-1 2733526
37
Octreotide Approved, Investigational Phase 2,Phase 1 83150-76-9 383414 6400441
38
nivolumab Approved Phase 2 946414-94-4
39
Pembrolizumab Approved Phase 2 1374853-91-4
40
Salicylic acid Approved, Investigational, Vet_approved Phase 2 69-72-7 338
41
Dopamine Approved Phase 2,Not Applicable 51-61-6, 62-31-7 681
42
Nintedanib Approved Phase 2 656247-17-5 56843413
43
Docetaxel Approved, Investigational Phase 1, Phase 2 114977-28-5 148124
44
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
45
Fludarabine Approved Phase 1, Phase 2,Phase 2 21679-14-1, 75607-67-9 30751
46
Mycophenolate mofetil Approved, Investigational Phase 1, Phase 2 128794-94-5 5281078
47
Mycophenolic acid Approved Phase 1, Phase 2 24280-93-1 446541
48
Vidarabine Approved, Investigational Phase 1, Phase 2 24356-66-9 32326 21704
49
Niraparib Approved, Investigational Phase 1, Phase 2 1038915-60-4 24958200
50
Bortezomib Approved, Investigational Phase 1, Phase 2 179324-69-7 387447 93860

Interventional clinical trials:

(show top 50) (show all 111)
# Name Status NCT ID Phase Drugs
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 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 Efficacy of XL184 (Cabozantinib) in Advanced Medullary Thyroid Cancer Unknown status NCT00704730 Phase 3 XL184;Placebo
5 123I-MIBG Scintigraphy in Patients Being Evaluated for Neuroendocrine Tumors Unknown status NCT01373736 Phase 3 123I-meta-iodobenzylguanidine
6 Cinacalcet to Treat Familial Primary Hyperparathyroidism Completed NCT00325104 Phase 3
7 Study of Anlotinib in Patients With Medullary Thyroid Carcinoma(ALTER01031) Recruiting NCT02586350 Phase 2, Phase 3 Anlotinib;Placebo
8 An Efficacy Study Comparing ZD6474 to Placebo in Medullary Thyroid Cancer Active, not recruiting NCT00410761 Phase 3 ZD6474 (Vandetanib)
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 Vandetanib
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 Evaluate the Safety and Tolerability of Vandetanib in Japanese Patients With Medullary Thyroid Carcinoma Completed NCT01661179 Phase 1, Phase 2 Vandetanib 300mg
17 SOM230 Alone or in Combination With RAD001 in Patients With Medullary Thyroid Cancer Completed NCT01625520 Phase 2 SOM230 alone or in combination with RAD001.
18 ImmunoTEP for Patients With Medullary Thyroid Carcinoma. Completed NCT01730638 Phase 1, Phase 2 • TF2 and 68 Ga-IMP-288
19 Sorafenib Phase II Study for Japanese Anaplastic or Medullary Thyroid Carcinoma Patients Completed NCT02114658 Phase 2 Sorafenib (Nexavar,BAY43-9006)
20 Phase II Two-step Radioimmunotherapy Clinical Study in Medullary Thyroid Carcinoma Completed NCT00467506 Phase 2 bispecific antibody and di-DTPA-131I
21 A Study To Assess ZD6474 (ZACTIMA™) Monotherapy In Locally Advanced or Metastatic Hereditary Medullary Thyroid Cancer Completed NCT00358956 Phase 2 ZD6474 (vandetanib)
22 Efficacy and Tolerability of ZD6474 in Patients With Thyroid Cancer Completed NCT00098345 Phase 2 ZD6474 (vandetanib)
23 Radioimmunotherapy With or Without Chemotherapy Plus Peripheral Stem Cell Transplantation in Treating Patients With Thyroid Cancer Completed NCT00004048 Phase 1, Phase 2 doxorubicin hydrochloride
24 Thalidomide in Treating Patients With Thyroid Cancer Completed NCT00026533 Phase 2 thalidomide
25 Trial of LBH589 in Metastatic Thyroid Cancer Completed NCT01013597 Phase 2 LBH589
26 Irinotecan in Treating Patients With Metastatic or Inoperable Thyroid Cancer Completed NCT00100828 Phase 2 irinotecan hydrochloride
27 Sunitinib Malate in Treating Patients With Iodine-Refractory Recurrent or Metastatic Thyroid Cancer Completed NCT00519896 Phase 2 sunitinib malate
28 Thyroid Cancer and Sunitinib Completed NCT00510640 Phase 2 Sunitinib
29 Phase II Trial of Sorafenib (Nexavar) in Patients With Advanced Thyroid Cancer Completed NCT00654238 Phase 2 sorafenib
30 Tanespimycin in Treating Patients With Inoperable Locoregionally Advanced or Metastatic Thyroid Cancer Completed NCT00118248 Phase 2 tanespimycin
31 A Phase 2, Open-label Study of AMG 706 to Treat Subjects With Locally Advanced or Metastatic Thyroid Cancer Completed NCT00121628 Phase 2 AMG 706
32 Capecitabine and Temozolomide for Neuroendocrine Cancers Completed NCT00869050 Phase 2 Capecitabine;Temozolomide
33 Suberoylanilide Hydroxamic Acid in Treating Patients With Metastatic and/or Locally Advanced or Locally Recurrent Thyroid Cancer Completed NCT00134043 Phase 2 vorinostat
34 Sunitinib Malate in Patients With Non-Clear Cell Renal Cell Cancer Completed NCT00465179 Phase 2 Sunitinib Malate
35 Everolimus in Treating Patients With Locally Advanced or Metastatic Thyroid Cancer Completed NCT01164176 Phase 2 everolimus
36 Hepatic Arterial Infusion of Melphalan With Hepatic Perfusion in Treating Patients With Unresectable Liver Cancer Completed NCT00096083 Phase 2 isolated perfusion;melphalan
37 Gefitinib in Treating Patients With Locally Advanced or Metastatic Thyroid Cancer That Did Not Respond to Iodine Therapy Completed NCT00095836 Phase 2 Gefitinib
38 Vaccine Therapy Plus Biological Therapy in Treating Adults With Metastatic Solid Tumors Completed NCT00019331 Phase 2 DetoxPC
39 Combination Chemotherapy and Tamoxifen in Treating Patients With Solid Tumors Completed NCT00002608 Phase 2 cisplatin;doxorubicin hydrochloride;tamoxifen citrate
40 Nivolumab Plus Ipilimumab in Patients With Renal Medullary Carcinoma Recruiting NCT03274258 Phase 2 Nivolumab;Ipilimumab
41 Study of Sulfatinib in Treating Advanced Medullary Thyroid Carcinoma and Iodine-refractory Differentiated Thyroid Carcinoma Recruiting NCT02614495 Phase 2 Sulfatinib
42 Pembrolizumab in Recurrent or Metastatic Medullary Thyroid Cancer Recruiting NCT03072160 Phase 2 Pembrolizumab
43 A Study Using Regorafenib as Second or Third Line Therapy in Metastatic Medullary Thyroid Cancer Recruiting NCT02657551 Phase 2 Regorafenib
44 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
45 Cabozantinib in Unresectable/Metastatic Adrenocortical Carcinoma Recruiting NCT03370718 Phase 2 Cabozantinib
46 Study to Evaluate the Effects of Cabozantinib in Patients With Unresectable Metastatic Pheochromocytomas and Paragangliomas Recruiting NCT02302833 Phase 2 Cabozantinib
47 Safety and Efficacy of Sorafenib in Patients With Advanced Thyroid Cancer: a Phase II Clinical Study Recruiting NCT02084732 Phase 2 Sorafenib
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 Cabozantinib
49 Rovalpituzumab Tesirine in Delta-Like Protein 3-Expressing Advanced Solid Tumors Recruiting NCT02709889 Phase 1, Phase 2 Rovalpituzumab tesirine
50 Cabozantinib-S-Malate in Treating Younger Patients With Recurrent, Refractory, or Newly Diagnosed Sarcomas, Wilms Tumor, or Other Rare Tumors Recruiting NCT02867592 Phase 2 Cabozantinib S-malate

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 29
2 Familial Medullary Thyroid Carcinoma 29 NTRK1 RET

Anatomical Context for Thyroid Carcinoma, Familial Medullary

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

41
Thyroid, Liver, Lung, Kidney, Testes, Endothelial, Lymph Node

Publications for Thyroid Carcinoma, Familial Medullary

Articles related to Thyroid Carcinoma, Familial Medullary:

(show top 50) (show all 685)
# Title Authors Year
1
Pregnancy on vandetanib in metastatic medullary thyroid carcinoma associated with multiple endocrine neoplasia type 2B. ( 29457255 )
2018
2
Recontacting Patients with Updated Genetic Testing Recommendations for Medullary Thyroid Carcinoma and Pheochromocytoma or Paraganglioma. ( 29427212 )
2018
3
Multiple Myeloma Presenting as Massive Amyloid Deposition in a Parathyroid Gland Associated with Amyloid Goiter: A Medullary Thyroid Carcinoma Mimic on Intra-operative Frozen Section. ( 28879586 )
2017
4
Incidental Detection of Synchronous Medullary Thyroid Carcinoma with Bilateral Adrenal Pheochromocytoma on Iodine-123 Metaiodobenzylguanidine Scintigraphy, Leading to Diagnosis of Multiple Endocrine Neoplasia 2A. ( 28553188 )
2017
5
Medullary Thyroid Carcinoma in MEN2A: ATA Moderate- or High-Risk RET Mutations Do Not Predict Disease Aggressiveness. ( 28609830 )
2017
6
Multilayer OMIC Data in Medullary Thyroid Carcinoma Identifies the STAT3 Pathway as a Potential Therapeutic Target in <i>RET</i><sup>M918T</sup> Tumors. ( 27620278 )
2017
7
Laryngeal chondrosarcoma mimicking medullary thyroid carcinoma on fine-needle aspiration cytology: A case report of a diagnostic pitfall. ( 28603936 )
2017
8
Composite paraganglioma-ganglioneuroma concomitant with adrenal metastasis of medullary thyroid carcinoma in a patient with multiple endocrine neoplasia type 2B: A case report. ( 27704704 )
2017
9
Metastatic neuroendocrine tumor of the esophagus with features of medullary thyroid carcinoma. ( 28944148 )
2017
10
Pycnodysostosis with novel gene mutation and sporadic medullary thyroid carcinoma: A case report. ( 29390266 )
2017
11
CEACAM1 long isoform has opposite effects on the growth of human mastocytosis and medullary thyroid carcinoma cells. ( 28332308 )
2017
12
Medullary thyroid carcinoma in a patient with Birt-Hogg-Dube syndrome. ( 28242119 )
2017
13
MicroRNA-21 and long non-coding RNA MALAT1 are overexpressed markers in medullary thyroid carcinoma. ( 29107050 )
2017
14
MiR-375 and YAP1 expression profiling in medullary thyroid carcinoma and their correlation with clinical-pathological features and outcome. ( 28861609 )
2017
15
Search of the p.M918T Mutation in the RET Oncogene in Mexican Adult Patients with Medullary Thyroid Carcinoma. ( 28166591 )
2017
16
Heat shock proteins HSP90, HSP70 and GRP78 expression in medullary thyroid carcinoma. ( 28038712 )
2017
17
Clusterin expression in medullary thyroid carcinoma is inversely correlated with the presence of lymph node metastases. ( 28411179 )
2017
18
Germline polymorphisms on RET proto-oncogene involved in medullary thyroid carcinoma in a Druze family. ( 28688347 )
2017
19
RET mutation and increased angiogenesis in medullary thyroid carcinomas. ( 27402614 )
2016
20
Distribution of RET Mutations and Evaluation of Treatment Approaches in Hereditary Medullary Thyroid Carcinoma in Turkey. ( 26758973 )
2016
21
Vandetanib induces a marked anti-tumor effect and amelioration of ectopic Cushing's syndrome in a medullary thyroid carcinoma patient. ( 27855236 )
2016
22
A cohort study on 10-year survival of sporadic medullary thyroid carcinoma with somatic RET mutation. ( 27847096 )
2016
23
Effect of 3'UTR RET Variants on RET mRNA Secondary Structure and Disease Presentation in Medullary Thyroid Carcinoma. ( 26829565 )
2016
24
Use of fine-needle aspirate calcitonin to detect medullary thyroid carcinoma: A systematic review. ( 26481456 )
2016
25
Role of CDKN2C Copy Number in Sporadic Medullary Thyroid Carcinoma. ( 27610696 )
2016
26
A Nationwide Study of Multiple Endocrine Neoplasia Type 2A in Norway: Predictive and Prognostic Factors for the Clinical Course of Medullary Thyroid Carcinoma. ( 27400880 )
2016
27
Osteopontin expression is correlated with differentiation and good prognosis in medullary thyroid carcinoma. ( 26811408 )
2016
28
Hypervascularity is more frequent in medullary thyroid carcinoma: Compared with papillary thyroid carcinoma. ( 27930537 )
2016
29
RET Gene Analysis in Patients with Medullary Thyroid Carcinoma. ( 27349013 )
2016
30
Analysis of somatic mutations in BRAF, CDKN2A/p16 and PI3KCA in patients with medullary thyroid carcinoma. ( 26718898 )
2016
31
Lymph node metastases and elevated postoperative calcitonin: Predictors of poor survival in medullary thyroid carcinoma. ( 26339947 )
2016
32
M918V RET mutation causes familial medullary thyroid carcinoma: study of 8 affected kindreds. ( 27807060 )
2016
33
Genetic and epigenetic background and protein expression profiles in relation to telomerase activation in medullary thyroid carcinoma. ( 26870890 )
2016
34
Surgery for lymph node metastases of medullary thyroid carcinoma: A review. ( 26539937 )
2016
35
Medullary Thyroid Carcinoma Associated with Germline RET<sup>K666N</sup> Mutation. ( 27673361 )
2016
36
Long-Term Follow-Up and Treatment of Postoperative Permanent Hypoparathyroidism in Patients with Medullary Thyroid Carcinoma: Differences in Complete and Partial Disease. ( 27813050 )
2016
37
Multiple endocrine neoplasia similar to human subtype 2A in a dog: Medullary thyroid carcinoma, bilateral pheochromocytoma and parathyroid adenoma. ( 27822452 )
2016
38
Screening of RET gene mutations in Chinese patients with medullary thyroid carcinoma and their relatives. ( 26254625 )
2016
39
Usefulness of Serum Calcitonin in Patients Without a Suspicious History of Medullary Thyroid Carcinoma and with Thyroid Nodules Without an Indication for Fine-Needle Aspiration or with Benign Cytology. ( 27203410 )
2016
40
Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression. ( 26945007 )
2016
41
Horner's Syndrome Incidental to Medullary Thyroid Carcinoma Excision: Case Report and Brief Literature Review. ( 27200201 )
2016
42
[A Familial Non Medullary Thyroid Carcinoma (FNMTC) : a clinical and genetic update]. ( 28387096 )
2016
43
RET proto oncogene mutation detection and medullary thyroid carcinoma prevention. ( 25824727 )
2015
44
Identification and characterization of two novel germline RET variants associated with medullary thyroid carcinoma. ( 25725622 )
2015
45
Tumor-suppressor role of Notch3 in medullary thyroid carcinoma revealed by genetic and pharmacological induction. ( 25512616 )
2015
46
Mortalin (GRP75/HSPA9) upregulation promotes survival and proliferation of medullary thyroid carcinoma cells. ( 25435367 )
2015
47
PI3K/Akt/mTOR: A promising therapeutic target for non-medullary thyroid carcinoma. ( 26138515 )
2015
48
RET mutation p.S891A in a Chinese family with familial medullary thyroid carcinoma and associated cutaneous amyloidosis binding OSMR variant p.G513D. ( 26356818 )
2015
49
The expression of the truncated isoform of somatostatin receptor subtype 5 associates with aggressiveness in medullary thyroid carcinoma cells. ( 25854304 )
2015
50
Identification of a novel germline FOXE1 variant in patients with familial non-medullary thyroid carcinoma (FNMTC). ( 25381600 )
2015

Variations for Thyroid Carcinoma, Familial Medullary

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

75 (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 64)
# Gene Variation Type Significance SNP ID Assembly Location
1 RET NM_020975.4(RET): c.1901G> A (p.Cys634Tyr) single nucleotide variant Pathogenic rs75996173 GRCh37 Chromosome 10, 43609949: 43609949
2 RET NM_020975.4(RET): c.1901G> A (p.Cys634Tyr) single nucleotide variant Pathogenic rs75996173 GRCh38 Chromosome 10, 43114501: 43114501
3 RET NM_020630.4(RET): c.1901G> T (p.Cys634Phe) single nucleotide variant Pathogenic rs75996173 GRCh37 Chromosome 10, 43609949: 43609949
4 RET NM_020630.4(RET): c.1901G> T (p.Cys634Phe) single nucleotide variant Pathogenic rs75996173 GRCh38 Chromosome 10, 43114501: 43114501
5 RET NM_020975.4(RET): c.1853G> C (p.Cys618Ser) single nucleotide variant Pathogenic rs79781594 GRCh37 Chromosome 10, 43609097: 43609097
6 RET NM_020975.4(RET): c.1853G> C (p.Cys618Ser) single nucleotide variant Pathogenic rs79781594 GRCh38 Chromosome 10, 43113649: 43113649
7 RET NM_020630.4(RET): c.1859G> A (p.Cys620Tyr) single nucleotide variant Pathogenic rs77503355 GRCh37 Chromosome 10, 43609103: 43609103
8 RET NM_020630.4(RET): c.1859G> A (p.Cys620Tyr) single nucleotide variant Pathogenic rs77503355 GRCh38 Chromosome 10, 43113655: 43113655
9 RET NM_020975.4(RET): c.1900T> C (p.Cys634Arg) single nucleotide variant Pathogenic rs75076352 GRCh37 Chromosome 10, 43609948: 43609948
10 RET NM_020975.4(RET): c.1900T> C (p.Cys634Arg) single nucleotide variant Pathogenic rs75076352 GRCh38 Chromosome 10, 43114500: 43114500
11 RET NM_020630.4(RET): c.1902C> G (p.Cys634Trp) single nucleotide variant Pathogenic rs77709286 GRCh37 Chromosome 10, 43609950: 43609950
12 RET NM_020630.4(RET): c.1902C> G (p.Cys634Trp) single nucleotide variant Pathogenic rs77709286 GRCh38 Chromosome 10, 43114502: 43114502
13 RET NM_020975.4(RET): c.2753T> C (p.Met918Thr) single nucleotide variant Pathogenic rs74799832 GRCh37 Chromosome 10, 43617416: 43617416
14 RET NM_020975.4(RET): c.2753T> C (p.Met918Thr) single nucleotide variant Pathogenic rs74799832 GRCh38 Chromosome 10, 43121968: 43121968
15 RET NM_020630.4(RET): c.1859G> T (p.Cys620Phe) single nucleotide variant Pathogenic rs77503355 GRCh37 Chromosome 10, 43609103: 43609103
16 RET NM_020630.4(RET): c.1859G> T (p.Cys620Phe) single nucleotide variant Pathogenic rs77503355 GRCh38 Chromosome 10, 43113655: 43113655
17 RET NM_020630.4(RET): c.1852T> C (p.Cys618Arg) single nucleotide variant Pathogenic rs76262710 GRCh37 Chromosome 10, 43609096: 43609096
18 RET NM_020630.4(RET): c.1852T> C (p.Cys618Arg) single nucleotide variant Pathogenic rs76262710 GRCh38 Chromosome 10, 43113648: 43113648
19 RET NM_020630.4(RET): c.2304G> C (p.Glu768Asp) single nucleotide variant Pathogenic/Likely pathogenic rs78014899 GRCh37 Chromosome 10, 43613840: 43613840
20 RET NM_020630.4(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 rs75030001 GRCh37 Chromosome 10, 43613906: 43613906
24 RET NM_020975.4(RET): c.2370G> C (p.Leu790Phe) single nucleotide variant Pathogenic rs75030001 GRCh38 Chromosome 10, 43118458: 43118458
25 RET NM_020975.4(RET): c.2944C> T (p.Arg982Cys) single nucleotide variant risk factor rs17158558 GRCh37 Chromosome 10, 43620335: 43620335
26 RET NM_020975.4(RET): c.2944C> T (p.Arg982Cys) single nucleotide variant risk factor rs17158558 GRCh38 Chromosome 10, 43124887: 43124887
27 RET NM_020630.4(RET): c.1586_1594dupAGGAGTGTG (p.Cys531_Gly532insGluGluCys) duplication Pathogenic rs377767434 GRCh37 Chromosome 10, 43607610: 43607618
28 RET NM_020630.4(RET): c.1586_1594dupAGGAGTGTG (p.Cys531_Gly532insGluGluCys) duplication Pathogenic rs377767434 GRCh38 Chromosome 10, 43112162: 43112170
29 RET NM_020630.4(RET): c.1859G> C (p.Cys620Ser) single nucleotide variant Pathogenic rs77503355 GRCh37 Chromosome 10, 43609103: 43609103
30 RET NM_020630.4(RET): c.1859G> C (p.Cys620Ser) single nucleotide variant Pathogenic rs77503355 GRCh38 Chromosome 10, 43113655: 43113655
31 RET NM_020630.4(RET): c.1825T> C (p.Cys609Arg) single nucleotide variant Pathogenic rs77558292 GRCh37 Chromosome 10, 43609069: 43609069
32 RET NM_020630.4(RET): c.1825T> C (p.Cys609Arg) single nucleotide variant Pathogenic rs77558292 GRCh38 Chromosome 10, 43113621: 43113621
33 RET NM_020975.4(RET): c.2410G> A (p.Val804Met) single nucleotide variant Pathogenic rs79658334 GRCh37 Chromosome 10, 43614996: 43614996
34 RET NM_020975.4(RET): c.2410G> A (p.Val804Met) single nucleotide variant Pathogenic rs79658334 GRCh38 Chromosome 10, 43119548: 43119548
35 RET NM_020630.4(RET): c.2410G> T (p.Val804Leu) single nucleotide variant Pathogenic rs79658334 GRCh37 Chromosome 10, 43614996: 43614996
36 RET NM_020630.4(RET): c.2410G> T (p.Val804Leu) single nucleotide variant Pathogenic rs79658334 GRCh38 Chromosome 10, 43119548: 43119548
37 RET NM_020630.4(RET): c.1597G> T (p.Gly533Cys) single nucleotide variant Pathogenic rs75873440 GRCh37 Chromosome 10, 43607621: 43607621
38 RET NM_020630.4(RET): c.1597G> T (p.Gly533Cys) single nucleotide variant Pathogenic rs75873440 GRCh38 Chromosome 10, 43112173: 43112173
39 RET NM_020975.4(RET): c.2671T> G (p.Ser891Ala) single nucleotide variant Pathogenic rs75234356 GRCh37 Chromosome 10, 43615592: 43615592
40 RET NM_020975.4(RET): c.2671T> G (p.Ser891Ala) single nucleotide variant Pathogenic rs75234356 GRCh38 Chromosome 10, 43120144: 43120144
41 RET NM_020975.4(RET): c.1853G> A (p.Cys618Tyr) single nucleotide variant Pathogenic rs79781594 GRCh37 Chromosome 10, 43609097: 43609097
42 RET NM_020975.4(RET): c.1853G> A (p.Cys618Tyr) single nucleotide variant Pathogenic rs79781594 GRCh38 Chromosome 10, 43113649: 43113649
43 RET NM_020630.4(RET): c.1888T> C (p.Cys630Arg) single nucleotide variant Pathogenic rs377767404 GRCh37 Chromosome 10, 43609936: 43609936
44 RET NM_020630.4(RET): c.1888T> C (p.Cys630Arg) single nucleotide variant Pathogenic rs377767404 GRCh38 Chromosome 10, 43114488: 43114488
45 RET NM_020630.4(RET): c.1996A> G (p.Lys666Glu) single nucleotide variant Pathogenic rs143795581 GRCh37 Chromosome 10, 43610044: 43610044
46 RET NM_020630.4(RET): c.1996A> G (p.Lys666Glu) single nucleotide variant Pathogenic rs143795581 GRCh38 Chromosome 10, 43114596: 43114596
47 RET NM_020630.4(RET): c.1998G> T (p.Lys666Asn) single nucleotide variant Pathogenic rs146646971 GRCh37 Chromosome 10, 43610046: 43610046
48 RET NM_020630.4(RET): c.1998G> T (p.Lys666Asn) single nucleotide variant Pathogenic rs146646971 GRCh38 Chromosome 10, 43114598: 43114598
49 RET NM_020630.4(RET): c.2735G> C (p.Arg912Pro) single nucleotide variant Pathogenic rs78347871 GRCh37 Chromosome 10, 43617398: 43617398
50 RET NM_020630.4(RET): c.2735G> C (p.Arg912Pro) single nucleotide variant Pathogenic rs78347871 GRCh38 Chromosome 10, 43121950: 43121950

Cosmic variations for Thyroid Carcinoma, Familial Medullary:

9
(show top 50) (show all 94)
# 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 39
2 COSM10654 TP53 thyroid,NS,carcinoma,medullary carcinoma c.637C>T p.R213* 17:7674894-7674894 39
3 COSM6956576 SMARCA4 thyroid,NS,carcinoma,medullary carcinoma c.2120T>C p.I707T 19:11008020-11008020 39
4 COSM29805 RET thyroid,NS,carcinoma,medullary carcinoma c.1859G>C p.C620S 10:43113655-43113655 39
5 COSM965 RET thyroid,NS,carcinoma,medullary carcinoma c.2753T>C p.M918T 10:43121968-43121968 39
6 COSM29804 RET thyroid,NS,carcinoma,medullary carcinoma c.1858T>C p.C620R 10:43113654-43113654 39
7 COSM974 RET thyroid,NS,carcinoma,medullary carcinoma c.1901G>A p.C634Y 10:43114501-43114501 39
8 COSM20888 RET thyroid,NS,carcinoma,medullary carcinoma c.2732G>A p.G911D 10:43121947-43121947 39
9 COSM3437784 RET thyroid,NS,carcinoma,medullary carcinoma c.2206G>A p.G736R 10:43116653-43116653 39
10 COSM966 RET thyroid,NS,carcinoma,medullary carcinoma c.1900T>C p.C634R 10:43114500-43114500 39
11 COSM5945762 RET thyroid,NS,carcinoma,medullary carcinoma c.2249C>G p.A750G 10:43116696-43116696 39
12 COSM964 RET thyroid,NS,carcinoma,medullary carcinoma c.1888T>C p.C630R 10:43114488-43114488 39
13 COSM918118 RET thyroid,NS,carcinoma,medullary carcinoma c.2038G>A p.A680T 10:43114638-43114638 39
14 COSM29803 RET thyroid,NS,carcinoma,medullary carcinoma c.1852T>C p.C618R 10:43113648-43113648 39
15 COSM133167 RET thyroid,NS,carcinoma,medullary carcinoma c.2647G>T p.A883S 10:43120120-43120120 39
16 COSM959 RET thyroid,NS,carcinoma,medullary carcinoma c.2627C>T p.A876V 10:43120100-43120100 39
17 COSM29807 RET thyroid,NS,carcinoma,medullary carcinoma c.1902C>T p.C634C 10:43114502-43114502 39
18 COSM249789 RET thyroid,NS,carcinoma,medullary carcinoma c.2117T>C p.V706A 10:43114717-43114717 39
19 COSM249790 RET thyroid,NS,carcinoma,medullary carcinoma c.2680G>A p.G894S 10:43120153-43120153 39
20 COSM1237918 RET thyroid,NS,carcinoma,medullary carcinoma c.1900T>A p.C634S 10:43114500-43114500 39
21 COSM6005497 RET thyroid,NS,carcinoma,medullary carcinoma c.1924G>A p.V642I 10:43114524-43114524 39
22 COSM249792 RET thyroid,NS,carcinoma,medullary carcinoma c.2041C>T p.Q681* 10:43114641-43114641 39
23 COSM5945770 RET thyroid,NS,carcinoma,medullary carcinoma c.2733T>G p.G911G 10:43121948-43121948 39
24 COSM960 RET thyroid,NS,carcinoma,medullary carcinoma c.2650G>A p.E884K 10:43120123-43120123 39
25 COSM5945755 RET thyroid,NS,carcinoma,medullary carcinoma c.2771T>C p.F924S 10:43121986-43121986 39
26 COSM963 RET thyroid,NS,carcinoma,medullary carcinoma c.2701G>A p.E901K 10:43120174-43120174 39
27 COSM21338 RET thyroid,NS,carcinoma,medullary carcinoma c.2304G>C p.E768D 10:43118392-43118392 39
28 COSM5598719 RET thyroid,NS,carcinoma,medullary carcinoma c.2137G>A p.E713K 10:43116584-43116584 39
29 COSM5945761 RET thyroid,NS,carcinoma,medullary carcinoma c.2256C>T p.Y752Y 10:43116703-43116703 39
30 COSM975 RET thyroid,NS,carcinoma,medullary carcinoma c.1902C>G p.C634W 10:43114502-43114502 39
31 COSM5945760 RET thyroid,NS,carcinoma,medullary carcinoma c.2752A>C p.M918L 10:43121967-43121967 39
32 COSM961 RET thyroid,NS,carcinoma,medullary carcinoma c.2723G>A p.R908K 10:43120196-43120196 39
33 COSM978 RET thyroid,NS,carcinoma,medullary carcinoma c.1892A>G p.D631G 10:43114492-43114492 39
34 COSM4170226 RET thyroid,NS,carcinoma,medullary carcinoma c.1946C>T p.S649L 10:43114546-43114546 39
35 COSM971 RET thyroid,NS,carcinoma,medullary carcinoma c.2296C>T p.P766S 10:43118384-43118384 39
36 COSM29806 RET thyroid,NS,carcinoma,medullary carcinoma c.1888T>G p.C630G 10:43114488-43114488 39
37 COSM20889 RET thyroid,NS,carcinoma,medullary carcinoma c.2761G>A p.E921K 10:43121976-43121976 39
38 COSM6005498 RET thyroid,NS,carcinoma,medullary carcinoma c.1886T>A p.L629Q 10:43114486-43114486 39
39 COSM970 RET thyroid,NS,carcinoma,medullary carcinoma c.2756C>T p.A919V 10:43121971-43121971 39
40 COSM5945757 RET thyroid,NS,carcinoma,medullary carcinoma c.2180G>A p.G727E 10:43116627-43116627 39
41 COSM5945758 RET thyroid,NS,carcinoma,medullary carcinoma c.1804A>G p.I602V 10:43113600-43113600 39
42 COSM5945763 RET thyroid,NS,carcinoma,medullary carcinoma c.1983C>T p.H661H 10:43114583-43114583 39
43 COSM958 RET thyroid,NS,carcinoma,medullary carcinoma c.2242G>T p.G748C 10:43116689-43116689 39
44 COSM5946160 RET thyroid,NS,carcinoma,medullary carcinoma c.1858T>A p.C620S 10:43113654-43113654 39
45 COSM980 RET thyroid,NS,carcinoma,medullary carcinoma c.1853G>A p.C618Y 10:43113649-43113649 39
46 COSM249791 RET thyroid,NS,carcinoma,medullary carcinoma c.1843G>A p.E615K 10:43113639-43113639 39
47 COSM583 NRAS thyroid,NS,carcinoma,medullary carcinoma c.182A>T p.Q61L 1:114713908-114713908 39
48 COSM584 NRAS thyroid,NS,carcinoma,medullary carcinoma c.182A>G p.Q61R 1:114713908-114713908 39
49 COSM6968164 MGA thyroid,NS,carcinoma,medullary carcinoma c.1228G>T p.E410* 15:41696238-41696238 39
50 COSM1237679 MDC1 thyroid,NS,carcinoma,medullary carcinoma c.6266C>A p.T2089N 6:30700469-30700469 39

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 9.02 CALCA CCK NTRK1 RET SST

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.97 EDNRB GDNF GFRA1 NTRK1 RET
2 positive regulation of cell proliferation GO:0008284 9.93 CCK CCKBR EDNRB GDNF KRAS OSMR
3 negative regulation of cell proliferation GO:0008285 9.91 MEN1 NTRK1 SST SSTR1 SSTR2
4 cell surface receptor signaling pathway GO:0007166 9.88 CCKBR EDNRB GFRA1 SST
5 MAPK cascade GO:0000165 9.83 GDNF GFRA1 KRAS MEN1 RET
6 regulation of signaling receptor activity GO:0010469 9.8 CALCA CALCB CCK GDNF SST TG
7 neuropeptide signaling pathway GO:0007218 9.78 CALCA SSTR1 SSTR2
8 signal transduction GO:0007165 9.73 CALCB CCK CCKBR EDNRB ESR2 GDNF
9 forebrain development GO:0030900 9.71 NKX2-1 SSTR1 SSTR2
10 regulation of blood pressure GO:0008217 9.7 CALCA CHGA EDNRB
11 neural crest cell migration GO:0001755 9.65 EDNRB GDNF RET
12 sympathetic nervous system development GO:0048485 9.6 GDNF NTRK1
13 epithelial tube branching involved in lung morphogenesis GO:0060441 9.59 KRAS NKX2-1
14 detection of temperature stimulus involved in sensory perception of pain GO:0050965 9.58 CALCA NTRK1
15 positive regulation of cAMP metabolic process GO:0030816 9.56 CALCA CHGA
16 peristalsis GO:0030432 9.55 GDNF SSTR2
17 somatostatin signaling pathway GO:0038170 9.49 SSTR1 SSTR2
18 response to pain GO:0048265 9.43 CALCA EDNRB RET
19 posterior midgut development GO:0007497 9.37 EDNRB RET
20 enteric nervous system development GO:0048484 9.33 EDNRB GDNF RET
21 axon guidance GO:0007411 9.1 GDNF GFRA1 KRAS NKX2-1 NTRK1 RET
22 G-protein coupled receptor signaling pathway GO:0007186 10.01 CALCA CALCB CCK CCKBR EDNRB SST

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

# Name GO ID Score Top Affiliating Genes
1 somatostatin receptor activity GO:0004994 8.96 SSTR1 SSTR2
2 hormone activity GO:0005179 8.92 CALCA CCK SST TG

Sources for Thyroid Carcinoma, Familial Medullary

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