MTC
MCID: THY111
MIFTS: 67

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 57 12 54
Medullary Thyroid Carcinoma 57 73 58 72 29 13 6
Familial Medullary Thyroid Carcinoma 12 58 29 6 15 70
Mtc 57 58 72
Medullary Thyroid Cancer 20 36
Carcinoma, Thyroid, Medullary, Familial 39
Medullary Carcinoma of Thyroid 70
Thyroid Carcinoma, Medullary 20
Thyroid Carcinoma Medullary 54
Thyroid Cancer, Medullary 20
Familial Mtc 58
Fmtc 57
Mtc1 57

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
thyroid carcinoma, familial medullary:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:0050547
OMIM® 57 155240
KEGG 36 H01592
MESH via Orphanet 45 C536911 C536914
ICD10 via Orphanet 33 C73
UMLS via Orphanet 71 C0238462 C1833921
MedGen 41 C1833921
UMLS 70 C0238462 C1833921

Summaries for Thyroid Carcinoma, Familial Medullary

KEGG : 36 Medullary thyroid carcinoma (MTC) is a malignant tumor originating from thyroid parafollicular C cells and accounts for only <5% of thyroid cancers, but it causes a disproportionate number of thyroid cancer deaths due to its more aggressive clinical behavior compared with well-differentiated papillary and follicular thyroid carcinomas. A subset of MTC cases is hereditary and due to germline mutations in the RET tyrosine kinase receptor gene. Somatic mutations in either RET or RAS are also present in most sporadic tumors. In MTC, RET mutations lead to substrate-independent dimerization of the receptor causing constitutive activation, unrestricted signaling, and ultimately, cancer.

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 Pathways in cancer and Neuroscience. The drugs Tyrosine and Loperamide have been mentioned in the context of this disorder. Affiliated tissues include thyroid, pituitary and lung, and related phenotypes are medullary thyroid carcinoma and elevated calcitonin

Disease Ontology : 12 A thyroid gland medullary carcinoma that has material basis in autosomal dominant inheritance.

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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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 : 73 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 551)
# Related Disease Score Top Affiliating Genes
1 multiple endocrine neoplasia, type iib 32.1 RET NTRK1 MEN1 GFRA1 GDNF CALCA
2 multiple endocrine neoplasia, type iia 31.6 VHL RET NTRK1 MEN1 GFRA1 GDNF
3 thyroid tumor 31.6 RET PRKAR1A
4 rare tumor 31.4 SST RET
5 thyroiditis 31.4 TG RET CALCA
6 multiple endocrine neoplasia 31.3 VHL TG SST RET PRKAR1A MEN1
7 neuroma 31.3 RET GDNF CALCA
8 multinodular goiter 31.1 TG NKX2-1 CALCA
9 thyroid carcinoma 31.1 TG RET NTRK1 NKX2-1 MALAT1 CALCA
10 hypothyroidism 31.0 TG SST RET NKX2-1 CALCA
11 differentiated thyroid carcinoma 31.0 TG RET NTRK1 NKX2-1 KRAS
12 carcinoid syndrome 31.0 SST MEN1 CHGA CALCA
13 papillary carcinoma 31.0 TG RET NTRK1 NKX2-1 CHGA CALCA
14 thyroid gland disease 30.8 TG SST RET NKX2-1 CEACAM5 CALCA
15 ectopic cushing syndrome 30.8 SST CHGA CALCA
16 paraganglioma 30.8 VHL TG SST RET MEN1 CHGA
17 conn's syndrome 30.7 SST PRKAR1A MEN1 CHGA CALCA
18 multiple mucosal neuroma 30.7 RET NTRK1 MEN1 GDNF CALCA
19 carney complex variant 30.7 SST RET PRKAR1A MEN1
20 carcinoid tumors, intestinal 30.7 SST NKX2-1 MEN1 GAST CHGA
21 pituitary adenoma 30.6 SST PRKAR1A MEN1 MALAT1 CHGA
22 hereditary paraganglioma-pheochromocytoma syndromes 30.6 VHL RET GDNF
23 malignant pheochromocytoma 30.6 VHL SST CHGA CALCA
24 thyroid gland anaplastic carcinoma 30.6 TG RET NTRK1 NKX2-1 CALCA
25 follicular adenoma 30.6 TG RET NTRK1 NKX2-1 MEN1 CALCA
26 insulinoma 30.5 SST MEN1 GAST CHGA
27 fetal adenoma 30.5 TG CALCA
28 parathyroid carcinoma 30.5 RET MEN1 CALCA
29 neuroendocrine carcinoma 30.5 SST NKX2-1 MEN1 GAST CHGA CEACAM5
30 duodenal somatostatinoma 30.4 SST MEN1 GAST
31 hyperparathyroidism 30.4 RET PRKAR1A MEN1 GAST CHGA CALCA
32 intestinal obstruction 30.4 RET GDNF CEACAM5
33 nodular goiter 30.4 TG RET CALCA
34 papillary thyroid microcarcinoma 30.4 TG NKX2-1 CALCA
35 megacolon 30.4 RET NTRK1 GFRA1 GDNF
36 adrenal cortical adenoma 30.4 PRKAR1A MEN1 CHGA
37 acth-secreting pituitary adenoma 30.4 SST PRKAR1A MEN1
38 ganglioneuroma 30.4 SST RET NTRK1 CHGA
39 multiple endocrine neoplasia, type iv 30.4 RET PRKAR1A MEN1
40 mucinous adenocarcinoma 30.3 NKX2-1 KRAS CEACAM5
41 goiter 30.3 TG SST RET NKX2-1 CALCA
42 parathyroid adenoma 30.3 RET PRKAR1A MEN1 CHGA CALCA
43 von hippel-lindau syndrome 30.3 VHL RET MEN1 CHGA
44 adrenal carcinoma 30.3 SST PRKAR1A MEN1 CHGA
45 thyroid gland follicular carcinoma 30.3 TG SST RET PRKAR1A NTRK1 NKX2-1
46 descending colon cancer 30.2 KRAS CEACAM5
47 parathyroid gland disease 30.2 TG RET MEN1 GAST CALCA
48 endocrine gland cancer 30.2 SST RET GAST CHGA
49 somatostatinoma 30.2 SST MEN1 GAST CHGA CALCA
50 thymic carcinoma 30.2 TG NKX2-1 CEACAM5 CEACAM3

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:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 medullary thyroid carcinoma 58 31 obligate (100%) Obligate (100%) HP:0002865
2 elevated calcitonin 58 31 hallmark (90%) Very frequent (99-80%) HP:0003528
3 nodular goiter 58 31 hallmark (90%) Very frequent (99-80%) HP:0005994
4 hyperhidrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000975
5 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
6 diarrhea 58 31 frequent (33%) Frequent (79-30%) HP:0002014
7 lymphadenopathy 58 31 frequent (33%) Frequent (79-30%) HP:0002716
8 dysphonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001618
9 weight loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0001824
10 pheochromocytoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002666
11 neoplasm of the lung 58 31 occasional (7.5%) Occasional (29-5%) HP:0100526
12 neoplasm of the skeletal system 58 31 occasional (7.5%) Occasional (29-5%) HP:0010622
13 primary hyperparathyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0008200
14 abnormal liver parenchyma morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0030146

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Oncology:
medullary thyroid carcinoma
no other primary tumors

Clinical features from OMIM®:

155240 (Updated 20-May-2021)

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

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.19 KRAS
2 Decreased viability GR00055-A-2 10.19 KRAS
3 Decreased viability GR00055-A-3 10.19 KRAS
4 Decreased viability GR00106-A-0 10.19 KRAS
5 Decreased viability GR00221-A-1 10.19 KRAS PRKAR1A RAF1 RET VHL
6 Decreased viability GR00221-A-2 10.19 KRAS PRKAR1A RAF1 RET VHL
7 Decreased viability GR00221-A-3 10.19 PRKAR1A NTRK1
8 Decreased viability GR00221-A-4 10.19 PRKAR1A RET
9 Decreased viability GR00249-S 10.19 VHL NTRK1
10 Decreased viability GR00301-A 10.19 KRAS RAF1 RET VHL NTRK1
11 Decreased viability GR00381-A-1 10.19 KRAS
12 Decreased viability GR00402-S-2 10.19 RAF1 RET

MGI Mouse Phenotypes related to Thyroid Carcinoma, Familial Medullary:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.3 ASCL1 ESR2 GDNF GFRA1 KRAS NKX2-1
2 growth/size/body region MP:0005378 10.3 ASCL1 CHGA ESR2 GDNF KRAS MEN1
3 endocrine/exocrine gland MP:0005379 10.29 ASCL1 CHGA ESR2 GAST GDNF KRAS
4 mortality/aging MP:0010768 10.28 ASCL1 CHGA ESR2 GAST GDNF GFRA1
5 digestive/alimentary MP:0005381 10.27 ESR2 GAST GDNF GFRA1 KRAS MEN1
6 cellular MP:0005384 10.25 ASCL1 ESR2 GDNF GFRA1 KRAS MEN1
7 immune system MP:0005387 10.25 ESR2 GAST GDNF GFRA1 KRAS MEN1
8 muscle MP:0005369 10.11 CHGA ESR2 GDNF GFRA1 KRAS MEN1
9 nervous system MP:0003631 10.07 ASCL1 CHGA ESR2 GDNF GFRA1 KRAS
10 neoplasm MP:0002006 9.97 ESR2 GAST KRAS MEN1 NKX2-1 PRKAR1A
11 no phenotypic analysis MP:0003012 9.81 ASCL1 CHGA ESR2 KRAS NKX2-1 NTRK1
12 normal MP:0002873 9.7 ASCL1 ESR2 GFRA1 KRAS NKX2-1 NTRK1
13 reproductive system MP:0005389 9.32 CHGA ESR2 GDNF KRAS MEN1 NKX2-1

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 97)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tyrosine Approved, Investigational, Nutraceutical Phase 4 60-18-4 6057
2
Loperamide Approved Phase 1, Phase 2 53179-11-6 3955
3
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
4
Histamine Approved, Investigational Phase 1, Phase 2 51-45-6, 75614-87-8 774
5
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
6
Thalidomide Approved, Investigational, Withdrawn Phase 2 50-35-1 5426
7
Pasireotide Approved Phase 2 396091-73-9 9941444
8
Nintedanib Approved Phase 2 656247-17-5 56843413
9
Pembrolizumab Approved Phase 2 1374853-91-4
10
Somatostatin Approved, Investigational Phase 2 51110-01-1, 38916-34-6 53481605
11
Panobinostat Approved, Investigational Phase 2 404950-80-7 6918837
12
Lenograstim Approved, Investigational Phase 1, Phase 2 135968-09-1
13
Iodine Approved, Investigational Phase 2 7553-56-2 807
14
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
15
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
16
Capecitabine Approved, Investigational Phase 1, Phase 2 154361-50-9 60953
17
Lithium carbonate Approved Phase 2 554-13-2
18
Salmon calcitonin Approved, Investigational Phase 2 47931-85-1 16129616
19
Bortezomib Approved, Investigational Phase 1, Phase 2 179324-69-7 387447 93860
20
Dacarbazine Approved, Investigational Phase 1, Phase 2 4342-03-4 5351166 2942
21
Ponatinib Approved, Investigational Phase 2 943319-70-8 24826799
22
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
23
Levodopa Approved Phase 2 59-92-7 6047
24
Irinotecan Approved, Investigational Phase 2 97682-44-5, 100286-90-6 60838
25
Glycine Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 56-40-6 750
26
Aspartic acid Approved, Nutraceutical Phase 2 56-84-8 5960
27
Asparagine Approved, Investigational, Nutraceutical Phase 2 70-47-3 6267
28
Cadexomer iodine Experimental Phase 2 94820-09-4
29
Calcitonin gene-related peptide Investigational Phase 2 83652-28-2
30 Gastrointestinal Agents Phase 1, Phase 2
31 Antidiarrheals Phase 1, Phase 2
32 Calcium, Dietary Phase 1, Phase 2
33 Calcium Aluminosilicate Phase 1, Phase 2
34 Hormones Phase 2
35 Hormone Antagonists Phase 2
36
Histamine Phosphate Phase 1, Phase 2 51-74-1 65513
37 Antibodies, Bispecific Phase 1, Phase 2
38 Immunosuppressive Agents Phase 2
39 Immunologic Factors Phase 2
40 Anti-Infective Agents Phase 2
41 Antineoplastic Agents, Immunological Phase 2
42 Histone Deacetylase Inhibitors Phase 2
43 Immunoglobulins, Intravenous Phase 1, Phase 2
44 Cola Phase 1, Phase 2
45 Angiogenesis Inhibitors Phase 2
46 Anti-Bacterial Agents Phase 2
47 Vaccines Phase 2
48 N-Methylaspartate Phase 2
49 Brewer's Yeast Phase 2
50
Liposomal doxorubicin Phase 2 31703

Interventional clinical trials:

(show top 50) (show all 74)
# Name Status NCT ID Phase Drugs
1 The Use of Lu177 in the Treatment of Progressive and Unresectable Metastatic Medullary Thyroid Cancer Unknown status NCT01915485 Phase 4
2 An International, Randomised, Double-Blind, Two-Arm Study To Evaluate The Safety And Efficacy Of Vandetanib 150 And 300mg/Day In Patients With Unresectable Locally Advanced Or Metastatic Medullary Thyroid Carcinoma With Progressive Or Symptomatic Disease Active, not recruiting NCT01496313 Phase 4 300mg vandetanib;150mg vandetanib
3 A Randomized, Double-blind Study To Evaluate the Efficacy and Safety of Cabozantinib (XL184) at 60 mg/Day Compared to a 140 mg/Day in Progressive, Metastatic Medullary Thyroid Cancer Patients Active, not recruiting NCT01896479 Phase 4 Cabozantinib (XL184) 140 mg;Cabozantinib (XL184) 60 mg;Placebo tablet;Placebo capsule
4 A Randomized, Double-blind, Placebo-controlled, Multicenter Clinical Trial to Compare the Efficacy and Safety of Anlotinib Versus Placebo in Patients With Medullary Thyroid Carcinoma(ALTER01031) Completed NCT02586350 Phase 2, Phase 3 Anlotinib;Placebo
5 An International, Randomized, Double-Blinded, Phase 3 Efficacy Study of XL184 Versus Placebo in Subjects With Unresectable, Locally Advanced, or Metastatic Medullary Thyroid Cancer Completed NCT00704730 Phase 3 XL184;Placebo
6 A Multicenter, Randomized, Open-label, Phase 3 Trial Comparing Selpercatinib to Physicians Choice of Cabozantinib or Vandetanib in Patients With Progressive, Advanced, Kinase Inhibitor Naïve, RET-Mutant Medullary Thyroid Cancer (LIBRETTO-531) Recruiting NCT04211337 Phase 3 Selpercatinib;Cabozantinib;Vandetanib
7 A Randomized,Int.,Open-Label Phase III Study to Assess the Effect of a Patient Outreach Program on the Percentage of Time Patients With Locally Advanced or Metastatic MTC Experience Grade 2 or Higher AEs in the First 12 Months of Treatment With Vandetanib Active, not recruiting NCT01298323 Phase 3 Vandetanib
8 An International, Phase III, Randomized, Double-Blinded, Placebo-Controlled, Multi-Center Study to Assess the Efficacy of ZD6474 (ZACTIMATM) Versus Placebo in Subjects With Unresectable Locally Advanced or Metastatic Medullary Thyroid Cancer Active, not recruiting NCT00410761 Phase 3 ZD6474 (Vandetanib)
9 A Phase III, Randomized, Open-Label Study of Pralsetinib Versus Standard of Care for Treatment of RET-Mutated Medullary Thyroid Cancer. Not yet recruiting NCT04760288 Phase 3 Pralsetinib;Cabozantinib;Vandetanib
10 A Phase II Study to Investigate the Efficacy of RAD001 (Afinitor®, Everolimus) in Patients With Irresectable Recurrent or Metastatic Differentiated, Undifferentiated (Anaplastic) and Medullary Thyroid Carcinoma Unknown status NCT01118065 Phase 2 everolimus
11 The Efficacy of CASAD in Patients With Diarrhea Related to Medullary Thyroid Cancer Unknown status NCT01739634 Phase 1, Phase 2 CASAD
12 Phase II Study of Capecitabine and Temozolomide for Progressive, Differentiated, Metastatic Neuroendocrine Cancers Completed NCT00869050 Phase 2 Capecitabine;Temozolomide
13 A Phase II, Open-Label Study To Assess The Efficacy and Tolerability of ZD6474 (ZACTIMA™ ) 100 mg Monotherapy In Subjects With Locally Advanced or Metastatic Hereditary Medullary Thyroid Cancer Completed NCT00358956 Phase 2 ZD6474 (vandetanib)
14 Phase II Study of Sunitinib in Iodine Refractory Differentiated Thyroid Cancer and Metastatic Medullary Carcinoma of Thyroid With Functional Imaging Correlation Completed NCT00519896 Phase 2 sunitinib malate
15 A Phase I/II, Open-label Study to Evaluate the Safety and Tolerability of Vandetanib 300 mg/Day in Japanese Patients With Unresectable Locally Advanced or Metastatic Medullary Thyroid Carcinoma Completed NCT01661179 Phase 1, Phase 2 Vandetanib 300mg
16 Phase I/II Trial of Vandetanib (ZD6474, ZACTIMA) in Children and Adolescents With Hereditary Medullary Thyroid Carcinoma Completed NCT00514046 Phase 1, Phase 2 Vandetanib
17 Pharmacokinetic and Imaging Optimization Study of Pretargeted Immuno-PET Using the Anti-CEA x Anti-HSG TF2 Bispecific Antibody and 68Ga-IMP-288 Peptide in Patients With Recurrences of Medullary Thyroid Carcinoma. Completed NCT01730638 Phase 1, Phase 2 • TF2 and 68 Ga-IMP-288
18 Sorafenib as Adjuvant to Radioiodine Therapy in Non-Medullary Thyroid Carcinoma Completed NCT00887107 Phase 2 Sorafenib (nexavar)
19 A Multi-center , Opened, Phase II Study of Safety and Efficacy of Sulfatinib in Advanced Medullary Thyroid Carcinoma ( MTC) and Iodine-refractory Differentiated Thyroid Carcinoma (DTC) Completed NCT02614495 Phase 2 Surufatinib
20 Phase II Two-step Radioimmunotherapy Clinical Study in Medullary Thyroid Carcinoma Completed NCT00467506 Phase 2 bispecific antibody and di-DTPA-131I
21 A Multi-center, Single-arm, Open-label Phase II Study to Evaluate the Safety, Efficacy and Pharmacokinetics of Sorafenib in Japanese Patients With Anaplastic Thyroid Carcinoma or Locally Advanced or Metastatic Medullary Thyroid Carcinoma Completed NCT02114658 Phase 2 Sorafenib (Nexavar,BAY43-9006)
22 An Open Label, Two Stage, Phase II Study to Evaluate the Efficacy and Tolerability of ZD6474 in Patients With Locally Advanced or Metastatic Hereditary Medullary Thyroid Carcinoma. Completed NCT00098345 Phase 2 ZD6474 (vandetanib)
23 Phase 2 Study of Anlotinib in Advanced Medullary Thyroid Carcinoma Completed NCT01874873 Phase 2 Anlotinib
24 Phase II Trial of Thalidomide for Therapy of Radioiodine-Unresponsive Papillary and Follicular Thyroid Carcinomas and Medullary Thyroid Carcinomas Completed NCT00026533 Phase 2 thalidomide
25 Mono Centre, Open Label Proof of Concept Study SOM230 in Progressive Medullary Thyroid Cancer Patients and the Combination With RAD001 Upon Progression Completed NCT01625520 Phase 2 SOM230 alone or in combination with RAD001.
26 A Phase II Study Exploring the Safety and Efficacy of Nintedanib (BIBF1120) as Second Line Therapy for Patients With Either Differentiated or Medullary Thyroid Cancer Progressing After First Line Therapy. Completed NCT01788982 Phase 2 Nintedanib;Placebo
27 Phase II Trial of Pembrolizumab in Recurrent or Metastatic Medullary Thyroid Cancer Completed NCT03072160 Phase 2 Pembrolizumab
28 A 3-Arm Randomized Phase II Trial Evaluating Single Agent and Combined Efficacy of Pasireotide and Everolimus in Adult Patients With Radioiodine-Refractory Differentiated and Medullary Thyroid Cancer Completed NCT01270321 Phase 2 Everolimus;Pasireotide;Everolimus and Pasireotide
29 A Phase II Trial of LBH589 in Patients With Metastatic Medullary Thyroid Cancer and Radioactive Iodine Resistant Differentiated Thyroid Cancer Completed NCT01013597 Phase 2 LBH589
30 Phase I/II Radioimmunotherapy With High-Dose 90Y-Labeled Humanized MN-14 Alone or Combined With Doxorubicin and Peripheral Blood Stem Cell Rescue (PBSCR) in Medullary Thyroid Cancer (MTC) Grant Application Title: Radioimmunotherapy of MTC With Y-90 Humanized MN14 Anti-CEA Mab and Doxorubicin Completed NCT00004048 Phase 1, Phase 2 doxorubicin hydrochloride
31 A Phase 1/2 Study of the Oral RET Inhibitor LOXO 292 in Pediatric Patients With Advanced RET-Altered Solid or Primary Central Nervous System Tumors Recruiting NCT03899792 Phase 1, Phase 2 LOXO-292
32 A Phase II Study Using Regorafenib as Second or Third Line Therapy in Metastatic Medullary Thyroid Cancer Recruiting NCT02657551 Phase 2 Regorafenib
33 A Phase 1/2 Study of Oral LOXO-292 in Patients With Advanced Solid Tumors, Including RET Fusion-Positive Solid Tumors, Medullary Thyroid Cancer, and Other Tumors With RET Activation (LIBRETTO-001) Recruiting NCT03157128 Phase 1, Phase 2 LOXO-292 (selpercatinib)
34 Phase II Study of Sorafenib (BAY 43-9006) in Patients With Metastatic Medullary Thyroid Carcinoma Active, not recruiting NCT00390325 Phase 2 Sorafenib Tosylate
35 A Phase 2 Study of GI-6207 in Patients With Recurrent Medullary Thyroid Cancer Active, not recruiting NCT01856920 Phase 2
36 A Phase 2 Study of Oral Selpercatinib (LOXO-292) in Patients With Advanced Solid Tumors, Including Rearranged in Transfection (RET) Fusion-Positive Solid Tumors, Medullary Thyroid Cancer and Other Tumors With RET Activation Active, not recruiting NCT04280081 Phase 2 Selpercatinib
37 A Phase II Study of Intensity-Modulated Radiation Therapy (IMRT) in the Treatment of Non-Anaplastic Non-Medullary Thyroid Cancer Active, not recruiting NCT01882816 Phase 2 Doxorubicin
38 Phase II Trial of Sunitinib (SU11248) in Iodine-131 Refractory, Unresectable Differentiated Thyroid Cancers and Medullary Thyroid Cancers Active, not recruiting NCT00381641 Phase 2 Sunitinib;Sunitinib Malate
39 A Single-arm, Open-Label, Multicenter Phase II Study to Evaluate the Efficacy and Safety of HA121-28 Tablets in Patients With Medullary Thyroid Carcinoma (MTC) Not yet recruiting NCT04787328 Phase 2 HA121-28 tablets
40 A Study of Ponatinib in Advanced or Metastatic Medullary Thyroid Cancer (MTC) Not yet recruiting NCT03838692 Phase 2 Ponatinib
41 An Initial Study of Lithium in Patients With Medullary Thyroid Cancer Terminated NCT00582712 Phase 2 Lithium carbonate
42 A Targeted Ph I/II Trial of ZD6474 (Vandetanib; CAPRELSA) Plus the Proteasome Inhibitor, Bortezomib (Velcade ), in Adults With Solid Tumors With a Focus on Hereditary or Sporadic, Locally Advanced or Metastatic Medullary Thyroid Ca (MTC) Terminated NCT00923247 Phase 1, Phase 2 Bortezomib;Vandetanib
43 A Phase I/II Study to Evaluate the Efficacy and Toxicity of Imatinib Mesylate in Combination With Dacarbazine and Capecitabine in Medullary Thyroid Carcinoma Terminated NCT00354523 Phase 1, Phase 2 Capecitabine (Xeloda);DTIC-Dome (Dacarbazine);Gleevec (Imatinib Mesylate)
44 Clinical Evaluation of 18F-DOPA Positron Emission Tomography in Medullary Thyroid Cancer. Terminated NCT00647140 Phase 2
45 A Phase II Study of Ponatinib in Advanced or Metastatic Medullary Thyroid Cancer Terminated NCT01838642 Phase 2 Ponatinib
46 Phase II Trial of Irinotecan for Treatment of Metastatic Medullary Thyroid Cancer Terminated NCT00100828 Phase 2 irinotecan hydrochloride
47 Randomized Double-blind Placebo Controlled Phase II Study to Evaluate the Efficacy and Safety of Sorafenib Treatment in Patients With Advanced (Recurrent, Persistent and/or Metastasizing) Medullary Thyroid Carcinoma Withdrawn NCT01736878 Phase 2 Sorafenib
48 A Phase II Study to Evaluate the Effects of 177Lu-DOTATATE in Patients With Unresectable and Progressive Rare Metastatic Endocrine Carcinomas: Medullary Thyroid Cancer, Parathyroid Carcinoma, Pituitary Carcinoma, and Malignant Pheochromocytoma/Paraganglioma Withdrawn NCT04106843 Phase 2 Lutetium Lu 177 Dotatate
49 Phase I Clinical Trial Using a Novel CCK-2/Gastrin Receptor-localizing Radiolabelled Peptide Probe for Personalized Diagnosis and Therapy of Patients With Progressive or Metastatic Medullary Thyroid Carcinoma Completed NCT03246659 Phase 1 111In-CP04;111In-CP04 with co-administration of gelofusine/gelaspan
50 A Phase I, Randomized, Open-label, Single-center Study to Assess the Pharmacokinetics of Vandetanib (CAPRELSA) in Healthy Subjects When a Single Oral Dose of Vandetanib 300 mg is Administered Alone and in Combination With Omeprazole or Ranitidine Completed NCT01539655 Phase 1 vandetanib;omeprazole;ranitidine

Search NIH Clinical Center for Thyroid Carcinoma, Familial Medullary

Genetic Tests for Thyroid Carcinoma, Familial Medullary

Genetic tests related to Thyroid Carcinoma, Familial Medullary:

# Genetic test Affiliating Genes
1 Familial Medullary Thyroid Carcinoma 29 RET
2 Medullary Thyroid Carcinoma 29

Anatomical Context for Thyroid Carcinoma, Familial Medullary

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

40
Thyroid, Pituitary, Lung, Lymph Node, Liver, Breast, Bone

Publications for Thyroid Carcinoma, Familial Medullary

Articles related to Thyroid Carcinoma, Familial Medullary:

(show top 50) (show all 4139)
# Title Authors PMID Year
1
Mutation analysis reveals novel sequence variants in NTRK1 in sporadic human medullary thyroid carcinoma. 54 57 6 61
10443680 1999
2
Multiple endocrine neoplasia type 2 syndromes may be associated with renal malformations. 6 57 61
11454140 2001
3
Unilateral renal agenesis in a family with medullary thyroid carcinoma. 57 61 6
10777380 2000
4
Familial medullary thyroid carcinoma without associated endocrinopathies: a distinct clinical entity. 61 57 6
3697657 1986
5
RET-familial medullary thyroid carcinoma mutants Y791F and S891A activate a Src/JAK/STAT3 pathway, independent of glial cell line-derived neurotrophic factor. 61 6 54
15753368 2005
6
The oncogenic activity of RET point mutants for follicular thyroid cells may account for the occurrence of papillary thyroid carcinoma in patients affected by familial medullary thyroid carcinoma. 6 54 61
15277225 2004
7
A novel point mutation of the RET protooncogene involving the second intracellular tyrosine kinase domain in a family with medullary thyroid carcinoma. 54 6 61
15240641 2004
8
A novel germ-line point mutation in RET exon 8 (Gly(533)Cys) in a large kindred with familial medullary thyroid carcinoma. 54 6 61
14602786 2003
9
CGH alterations in medullary thyroid carcinomas in relation to the RET M918T mutation and clinical outcome. 61 6 54
11351254 2001
10
Biological and biochemical properties of Ret with kinase domain mutations identified in multiple endocrine neoplasia type 2B and familial medullary thyroid carcinoma. 54 61 6
10445857 1999
11
A novel 9-base pair duplication in RET exon 8 in familial medullary thyroid carcinoma. 6 61 54
10323403 1999
12
A novel point mutation in the intracellular domain of the ret protooncogene in a family with medullary thyroid carcinoma. 6 54 61
9398735 1997
13
Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain. 54 61 6
9242375 1997
14
Mutation of RET codon 768 is associated with the FMTC phenotype. 6 61 54
9111992 1997
15
The different RET-activating capability of mutations of cysteine 620 or cysteine 634 correlates with the multiple endocrine neoplasia type 2 disease phenotype. 61 54 6
9012462 1997
16
RET activation by germline MEN2A and MEN2B mutations. 6 54 61
8570194 1995
17
RET mutations in exons 13 and 14 of FMTC patients. 6 54 61
7784092 1995
18
Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours. 54 61 6
7911697 1994
19
A MEN2A family with two asymptomatic carriers affected by unilateral renal agenesis. 61 6
24152999 2014
20
AZD1480 blocks growth and tumorigenesis of RET- activated thyroid cancer cell lines. 6 61
23056499 2012
21
The tyrosine kinase inhibitor ZD6474 blocks proliferation of RET mutant medullary thyroid carcinoma cells. 6 61
20943719 2011
22
Predominant RET Germline Mutations in Exons 10, 11, and 16 in Iranian Patients with Hereditary Medullary Thyroid Carcinoma. 6 61
21765987 2011
23
Early diagnosis of multiple endocrine neoplasia type 2B: a challenge for physicians. 6 61
19169500 2008
24
Prognostic significance of somatic RET oncogene mutations in sporadic medullary thyroid cancer: a 10-year follow-up study. 6 61
18073307 2008
25
Multiple endocrine neoplasia type 2b associated with lichen nitidus. 6 61
17540634 2007
26
Association of mitochondrial DNA transversion mutations with familial medullary thyroid carcinoma/multiple endocrine neoplasia type 2 syndrome. 61 57
16205644 2006
27
Polymorphisms in exon 13 and intron 14 of the RET protooncogene: genetic modifiers of medullary thyroid carcinoma? 6 61
16118333 2005
28
Germline homozygous mutations at codon 804 in the RET protooncogene in medullary thyroid carcinoma/multiple endocrine neoplasia type 2A patients. 6 61
15741265 2005
29
Pheochromocytoma and medullary thyroid carcinoma: a new genotype-phenotype correlation of the RET protooncogene 891 germline mutation. 6 61
15292360 2004
30
Early malignant progression of hereditary medullary thyroid cancer. 57 61
14561794 2003
31
Genome-wide copy number imbalances identified in familial and sporadic medullary thyroid carcinoma. 57 61
12679485 2003
32
Segregation of the V804L mutation and S836S polymorphism of exon 14 of the RET gene in an extended kindred with familial medullary thyroid cancer. 6 54
12694233 2003
33
Analysis of cancer/testis antigens in sporadic medullary thyroid carcinoma: expression and humoral response to NY-ESO-1. 61 57
12574209 2003
34
A novel germline point mutation, c.2304 G-->T, in codon 768 of the RET proto-oncogene in a patient with medullary thyroid carcinoma. 6 61
12116277 2002
35
Familial medullary thyroid carcinoma: clinical variability and low aggressiveness associated with RET mutation at codon 804. 6 61
11932300 2002
36
Germline sequence variant S836S in the RET proto-oncogene is associated with low level predisposition to sporadic medullary thyroid carcinoma in the Spanish population. 61 6
11589684 2001
37
Familial form of hirschsprung disease: nucleotide sequence studies reveal point mutations in the RET proto-oncogene in two of six families but not in other candidate genes. 61 6
10982477 2000
38
A codon 891 exon 15 RET proto-oncogene mutation in familial medullary thyroid carcinoma: a detection strategy. 61 6
10024437 1999
39
Genotype-phenotype correlation of patients with multiple endocrine neoplasia type 2 in Japan. 6 61
9839497 1998
40
A new hot spot for mutations in the ret protooncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A. 61 6
9506724 1998
41
Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests. 6 61
7915165 1994
42
Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B. 6 61
7906417 1994
43
Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. 6 61
7907913 1994
44
Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. 6 61
8099202 1993
45
Primary localized cutaneous amyloidosis and familial medullary thyroid carcinoma. 57 61
1889128 1991
46
Familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2B map to the same region of chromosome 10 as multiple endocrine neoplasia type 2A. 57 61
1672289 1991
47
Linkage analysis of hereditary thyroid carcinoma with and without pheochromocytoma. 61 57
2572534 1989
48
Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 6
25157968 2014
49
In silico profiling and structural insights of missense mutations in RET protein kinase domain by molecular dynamics and docking approach. 6
24336963 2014
50
Integrative analysis of miRNA and mRNA expression profiles in pheochromocytoma and paraganglioma identifies genotype-specific markers and potentially regulated pathways. 6
23660872 2013

Variations for Thyroid Carcinoma, Familial Medullary

ClinVar genetic disease variations for Thyroid Carcinoma, Familial Medullary:

6 (show top 50) (show all 103)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NTRK1 NM_001007792.1(NTRK1):c.1702C>T (p.His568Tyr) SNV Pathogenic 37077 rs6336 GRCh37: 1:156848918-156848918
GRCh38: 1:156879126-156879126
2 NTRK1 NM_001007792.1(NTRK1):c.1730G>T (p.Gly577Val) SNV Pathogenic 12308 rs6339 GRCh37: 1:156848946-156848946
GRCh38: 1:156879154-156879154
3 RET NM_020975.6(RET):c.1901G>T (p.Cys634Phe) SNV Pathogenic 13911 rs75996173 GRCh37: 10:43609949-43609949
GRCh38: 10:43114501-43114501
4 RET NM_020975.6(RET):c.1852T>C (p.Cys618Arg) SNV Pathogenic 13929 rs76262710 GRCh37: 10:43609096-43609096
GRCh38: 10:43113648-43113648
5 RET NM_020975.6(RET):c.2304G>C (p.Glu768Asp) SNV Pathogenic 13931 rs78014899 GRCh37: 10:43613840-43613840
GRCh38: 10:43118392-43118392
6 RET NM_020975.6(RET):c.2370G>C (p.Leu790Phe) SNV Pathogenic 13935 rs75030001 GRCh37: 10:43613906-43613906
GRCh38: 10:43118458-43118458
7 RET NM_020975.6(RET):c.1586_1594dup (p.Glu529_Cys531dup) Duplication Pathogenic 13941 rs377767434 GRCh37: 10:43607601-43607602
GRCh38: 10:43112153-43112154
8 RET NM_020975.6(RET):c.1859G>C (p.Cys620Ser) SNV Pathogenic 13943 rs77503355 GRCh37: 10:43609103-43609103
GRCh38: 10:43113655-43113655
9 RET NM_020975.6(RET):c.1825T>C (p.Cys609Arg) SNV Pathogenic 13944 rs77558292 GRCh37: 10:43609069-43609069
GRCh38: 10:43113621-43113621
10 RET NM_020975.6(RET):c.1597G>T (p.Gly533Cys) SNV Pathogenic 13950 rs75873440 GRCh37: 10:43607621-43607621
GRCh38: 10:43112173-43112173
11 RET NM_020975.6(RET):c.2671T>G (p.Ser891Ala) SNV Pathogenic 13951 rs75234356 GRCh37: 10:43615592-43615592
GRCh38: 10:43120144-43120144
12 RET NM_020975.6(RET):c.2735G>C (p.Arg912Pro) SNV Pathogenic 24968 rs78347871 GRCh37: 10:43617398-43617398
GRCh38: 10:43121950-43121950
13 RET NM_020975.6(RET):c.2410G>A (p.Val804Met) SNV Pathogenic 37102 rs79658334 GRCh37: 10:43614996-43614996
GRCh38: 10:43119548-43119548
14 MEN1 NM_000244.3(MEN1):c.371_372del (p.Val124fs) Deletion Pathogenic 523339 rs1555166368 GRCh37: 11:64577210-64577211
GRCh38: 11:64809738-64809739
15 RET NM_020975.6(RET):c.2410G>A (p.Val804Met) SNV Pathogenic 618965 rs79658334 GRCh37: 10:43614996-43614996
GRCh38: 10:43119548-43119548
16 RET NM_020975.6(RET):c.1852T>G (p.Cys618Gly) SNV Pathogenic 13905 rs76262710 GRCh37: 10:43609096-43609096
GRCh38: 10:43113648-43113648
17 RET NM_020975.6(RET):c.2370G>T (p.Leu790Phe) SNV Pathogenic 38612 rs75030001 GRCh37: 10:43613906-43613906
GRCh38: 10:43118458-43118458
18 RET NM_020975.6(RET):c.1900T>G (p.Cys634Gly) SNV Pathogenic 13908 rs75076352 GRCh37: 10:43609948-43609948
GRCh38: 10:43114500-43114500
19 RET NM_020975.6(RET):c.1853G>C (p.Cys618Ser) SNV Pathogenic 13914 rs79781594 GRCh37: 10:43609097-43609097
GRCh38: 10:43113649-43113649
20 RET NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) SNV Pathogenic 13936 rs77724903 GRCh37: 10:43613908-43613908
GRCh38: 10:43118460-43118460
21 RET NM_020975.6(RET):c.2410G>T (p.Val804Leu) SNV Pathogenic 13946 rs79658334 GRCh37: 10:43614996-43614996
GRCh38: 10:43119548-43119548
22 RET NM_020975.6(RET):c.2753T>C (p.Met918Thr) SNV Pathogenic 13919 rs74799832 GRCh37: 10:43617416-43617416
GRCh38: 10:43121968-43121968
23 RET NM_020975.6(RET):c.2410G>T (p.Val804Leu) SNV Pathogenic 13946 rs79658334 GRCh37: 10:43614996-43614996
GRCh38: 10:43119548-43119548
24 RET NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) SNV Pathogenic 13933 rs77939446 GRCh37: 10:43609070-43609070
GRCh38: 10:43113622-43113622
25 RET NM_020975.6(RET):c.2753T>C (p.Met918Thr) SNV Pathogenic 13919 rs74799832 GRCh37: 10:43617416-43617416
GRCh38: 10:43121968-43121968
26 RET NM_020975.6(RET):c.1998G>T (p.Lys666Asn) SNV Likely pathogenic 24932 rs146646971 GRCh37: 10:43610046-43610046
GRCh38: 10:43114598-43114598
27 RET NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) SNV Likely pathogenic 13936 rs77724903 GRCh37: 10:43613908-43613908
GRCh38: 10:43118460-43118460
28 RET NM_020975.6(RET):c.1900T>C (p.Cys634Arg) SNV Likely pathogenic 13917 rs75076352 GRCh37: 10:43609948-43609948
GRCh38: 10:43114500-43114500
29 RET NM_020975.6(RET):c.1853G>A (p.Cys618Tyr) SNV Likely pathogenic 24901 rs79781594 GRCh37: 10:43609097-43609097
GRCh38: 10:43113649-43113649
30 RET NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) SNV Likely pathogenic 13933 rs77939446 GRCh37: 10:43609070-43609070
GRCh38: 10:43113622-43113622
31 RET NM_020975.6(RET):c.2410G>C (p.Val804Leu) SNV Likely pathogenic 38613 rs79658334 GRCh37: 10:43614996-43614996
GRCh38: 10:43119548-43119548
32 RET NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) SNV Likely pathogenic 13909 rs75996173 GRCh37: 10:43609949-43609949
GRCh38: 10:43114501-43114501
33 RET NM_020975.6(RET):c.1888T>C (p.Cys630Arg) SNV Likely pathogenic 24908 rs377767404 GRCh37: 10:43609936-43609936
GRCh38: 10:43114488-43114488
34 RET NM_020975.6(RET):c.1902C>G (p.Cys634Trp) SNV Likely pathogenic 13918 rs77709286 GRCh37: 10:43609950-43609950
GRCh38: 10:43114502-43114502
35 KRAS NM_004985.5(KRAS):c.182A>T (p.Gln61Leu) SNV Likely pathogenic 45116 rs121913240 GRCh37: 12:25380276-25380276
GRCh38: 12:25227342-25227342
36 RET NM_020975.6(RET):c.2647_2648delinsTT (p.Ala883Phe) Indel Likely pathogenic 38629 rs377767429 GRCh37: 10:43615568-43615569
GRCh38: 10:43120120-43120121
37 RET NM_020975.6(RET):c.1894_1899del (p.Glu632_Leu633del) Deletion Likely pathogenic 376313 rs121913312 GRCh37: 10:43609942-43609947
GRCh38: 10:43114494-43114499
38 NTRK1 NM_002529.4(NTRK1):c.1768G>A (p.Glu590Lys) SNV Likely pathogenic 978717 GRCh37: 1:156846327-156846327
GRCh38: 1:156876535-156876535
39 RET NM_020975.6(RET):c.1947G>A (p.Ser649=) SNV Likely pathogenic 24929 rs377767412 GRCh37: 10:43609995-43609995
GRCh38: 10:43114547-43114547
40 RET NM_020975.6(RET):c.1834_1860del (p.Phe612_Cys620del) Deletion Likely pathogenic 376312 rs121913313 GRCh37: 10:43609074-43609100
GRCh38: 10:43113626-43113652
41 RET NM_020975.6(RET):c.1892A>G (p.Asp631Gly) SNV Likely pathogenic 24916 rs121913308 GRCh37: 10:43609940-43609940
GRCh38: 10:43114492-43114492
42 RET NM_020975.6(RET):c.2694_2705del (p.Asp898_Glu901del) Deletion Likely pathogenic 376314 rs121913309 GRCh37: 10:43615612-43615623
GRCh38: 10:43120164-43120175
43 RET NM_020975.6(RET):c.1859G>A (p.Cys620Tyr) SNV Likely pathogenic 13916 rs77503355 GRCh37: 10:43609103-43609103
GRCh38: 10:43113655-43113655
44 RET NM_020975.6(RET):c.2304G>C (p.Glu768Asp) SNV Likely pathogenic 13931 rs78014899 GRCh37: 10:43613840-43613840
GRCh38: 10:43118392-43118392
45 RET NM_020975.6(RET):c.1852T>C (p.Cys618Arg) SNV Likely pathogenic 13929 rs76262710 GRCh37: 10:43609096-43609096
GRCh38: 10:43113648-43113648
46 RET NM_020975.6(RET):c.2671T>G (p.Ser891Ala) SNV Likely pathogenic 13951 rs75234356 GRCh37: 10:43615592-43615592
GRCh38: 10:43120144-43120144
47 RET NM_020975.6(RET):c.961G>A (p.Gly321Arg) SNV Uncertain significance 24881 rs377767388 GRCh37: 10:43601917-43601917
GRCh38: 10:43106469-43106469
48 RET NM_020975.6(RET):c.2452G>A (p.Glu818Lys) SNV Uncertain significance 24943 rs377767420 GRCh37: 10:43615038-43615038
GRCh38: 10:43119590-43119590
49 RET NM_020975.6(RET):c.2656C>T (p.Arg886Trp) SNV Uncertain significance 24960 rs146838520 GRCh37: 10:43615577-43615577
GRCh38: 10:43120129-43120129
50 INSRR , NTRK1 NM_014215.3(INSRR):c.3537dup (p.Val1180fs) Duplication Uncertain significance 584589 rs761392074 GRCh37: 1:156811310-156811311
GRCh38: 1:156841518-156841519

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

72 (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

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

7 (show all 35)
# CNVD ID Chromosome 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

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

(show all 12)
# Super pathways Score Top Affiliating Genes
1 12.52 VHL RET RAF1 NTRK1 KRAS ESR2
2 12.34 RET PRKAR1A NTRK1 NKX2-1 CALCA
3
Show member pathways
11.78 RET RAF1 KRAS GFRA1 GDNF
4 11.67 RAF1 KRAS ESR2
5
Show member pathways
11.59 RET RAF1 KRAS
6 11.56 SST RET PRKAR1A ESR2 ASCL1
7 11.49 VHL RAF1 KRAS
8 11.44 RAF1 KRAS ESR2
9 11.4 RET RAF1 NTRK1 KRAS
10 11.29 RET RAF1 KRAS
11 11.12 RET GFRA1 GDNF
12 9.4 RET RAF1 GFRA1 GDNF

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 SST RET NTRK1 CALCA ASCL1

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

# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.88 RET NTRK1 GFRA1 GDNF ASCL1
2 negative regulation of cell proliferation GO:0008285 9.8 VHL SST RAF1 NTRK1 MEN1
3 negative regulation of apoptotic process GO:0043066 9.8 VHL RAF1 NTRK1 GDNF CEACAM5 ASCL1
4 axon guidance GO:0007411 9.55 RET NTRK1 NKX2-1 GFRA1 GDNF
5 forebrain neuron differentiation GO:0021879 9.46 NKX2-1 ASCL1
6 glial cell-derived neurotrophic factor receptor signaling pathway GO:0035860 9.43 RET GFRA1
7 thyroid gland development GO:0030878 9.43 TG RAF1 NKX2-1
8 cerebral cortex GABAergic interneuron differentiation GO:0021892 9.37 NKX2-1 ASCL1
9 sympathetic nervous system development GO:0048485 9.13 NTRK1 GDNF ASCL1
10 MAPK cascade GO:0000165 9.1 RET RAF1 MEN1 KRAS GFRA1 GDNF

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.56 TG RAF1 NTRK1 KRAS ESR2 CEACAM5
2 hormone activity GO:0005179 8.92 TG SST GAST CALCA

Sources for Thyroid Carcinoma, Familial Medullary

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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