MTC
MCID: THY111
MIFTS: 70

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 55
Medullary Thyroid Carcinoma 57 12 76 59 75 29 13 6 15
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
SNOMED-CT 68 32913002
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 multiple endocrine neoplasia, type iib. 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, lymph node and testes, 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 227)
# Related Disease Score Top Affiliating Genes
1 multiple endocrine neoplasia, type iia 32.3 RET MEN1 GFRA1 GDNF CALCA
2 multiple endocrine neoplasia, type iib 32.0 RET OSMR MEN1 GFRA1 GDNF EDNRB
3 thyroid cancer, nonmedullary, 2 31.0 TG SSTR2 SST RET OSMR NKX2-1
4 paraganglioma 30.8 SST RET CHGA
5 adenoma 30.8 SST RET MEN1 KRAS
6 pheochromocytoma 30.8 SSTR1 SST RET NTRK1 MEN1 GDNF
7 thyroiditis 30.7 TG RET CALCA
8 parathyroid adenoma 30.6 RET MEN1 CHGA CALCA
9 lichen amyloidosis 30.6 RET OSMR
10 hirschsprung disease 1 30.5 EDNRB RET GFRA1 GDNF
11 carcinoid syndrome 30.5 SST MEN1 CHGA CALCA
12 hyperparathyroidism 30.5 RET MEN1 CHGA CALCA
13 hypothyroidism 30.5 TG RET NKX2-1 CALCA
14 nodular goiter 30.4 TG RET CALCA
15 primary hyperparathyroidism 30.4 RET MEN1 CHGA CALCA
16 goiter 30.4 TG NKX2-1 CALCA
17 ectopic cushing syndrome 30.4 SSTR1 SST RET MEN1
18 papillary carcinoma 30.3 TG RET NKX2-1 CALCA
19 ganglioneuroma 30.2 RET NTRK1 CHGA
20 neuroma 30.2 RET GDNF CALCA
21 somatostatinoma 30.2 SST CHGA CALCA
22 neuroendocrine tumor 30.2 SSTR2 SST NKX2-1 MEN1 CHGA CCK
23 multiple endocrine neoplasia, type i 30.2 SST RET MEN1 CHGA
24 papillary thyroid microcarcinoma 30.2 TG NKX2-1 CALCA
25 cowden disease 30.1 TG RET CHGA CALCA
26 hemangioma 30.1 RET NKX2-1 KRAS CHGA
27 multiple endocrine neoplasia 30.1 RET MEN1 GDNF CHGA CALCA
28 meningioma, familial 30.1 MEN1 SST SSTR2
29 thyroid cancer 29.9 TG SST RET NTRK1 NKX2-1 MALAT1
30 thyroid cancer, nonmedullary, 4 11.2
31 thyroid cancer, nonmedullary, 5 11.2
32 thyroid cancer, nonmedullary, 1 11.0
33 thyroid cancer, nonmedullary, 3 11.0
34 wdha syndrome 10.3 SST CALCA
35 medullary sponge kidney 10.3 RET GDNF
36 conn's syndrome 10.3
37 mucoepidermoid thyroid carcinoma 10.3 TG CALCA
38 thyroid carcinoma, hurthle cell 10.3 TG MALAT1
39 amyloidosis, primary localized cutaneous, 1 10.3 RET OSMR
40 benign struma ovarii 10.3 TG RET
41 pancreatic somatostatinoma 10.3 SST MEN1 CALCA
42 parathyroid gland disease 10.3 RET MEN1 CALCA
43 prolactin producing pituitary tumor 10.3 SST NTRK1 CALCA
44 adenoma of the pancreas 10.3 SST CHGA
45 parathyroid carcinoma 10.3 RET MEN1 CALCA
46 suppurative thyroiditis 10.3 TG CALCA
47 gastrinoma 10.3 SST MEN1 CHGA
48 duodenum cancer 10.3 SST MEN1 KRAS
49 thyroid sarcoma 10.3 TG CALCA
50 periampullary adenoma 10.3 KRAS 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 CALCB CCK CCKBR CHGA EDNRB ESR2
3 growth/size/body region MP:0005378 10.31 CCKBR CHGA EDNRB ESR2 GDNF KRAS
4 digestive/alimentary MP:0005381 10.3 CCKBR EDNRB ESR2 GDNF GFRA1 KRAS
5 endocrine/exocrine gland MP:0005379 10.29 CCK CCKBR CHGA EDNRB ESR2 GDNF
6 cardiovascular system MP:0005385 10.28 CALCB CCKBR CHGA EDNRB ESR2 GDNF
7 immune system MP:0005387 10.23 CCKBR EDNRB ESR2 GDNF GFRA1 KRAS
8 nervous system MP:0003631 10.19 CALCB CCK CCKBR CHGA EDNRB ESR2
9 mortality/aging MP:0010768 10.18 CALCB CHGA EDNRB ESR2 GDNF GFRA1
10 integument MP:0010771 10.03 CALCB CCKBR EDNRB ESR2 GFRA1 KRAS
11 muscle MP:0005369 10.02 CHGA EDNRB ESR2 GDNF GFRA1 KRAS
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 CALCB ESR2 GFRA1 KRAS NKX2-1 NTRK1
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 all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nicotinamide Approved, Investigational Phase 2 98-92-0 936
2
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
3
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
4
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
5 Vitamins Phase 2
6 Nicotinic Acids Phase 2
7 Vitamin B9 Phase 2
8 Trace Elements Phase 2
9 Vitamin B3 Phase 2
10 Folate Phase 2
11 Protein Kinase Inhibitors Phase 2
12 Vitamin B Complex Phase 2
13 Micronutrients Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Sorafenib Tosylate in Treating Patients With Metastatic, Locally Advanced, or Recurrent Medullary Thyroid Cancer Active, not recruiting NCT00390325 Phase 2 Sorafenib Tosylate
2 Study of Molecular Pathways in Medullary Thyroid Carcinoma and Correlation of Molecular Data With Clinical Behavior of the MTC in Individuals Patients Completed NCT01424878

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, Lymph Node, Testes, Liver, Lung, Bone, Pituitary

Publications for Thyroid Carcinoma, Familial Medullary

Articles related to Thyroid Carcinoma, Familial Medullary:

(show top 50) (show all 1258)
# 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
Coexistence of medullary thyroid carcinoma and recurrent non-functional pituitary adenoma: a case report. ( 30107852 )
2018
4
Update on Multiple Endocrine Neoplasia Type 2: Focus on Medullary Thyroid Carcinoma. ( 30087948 )
2018
5
Bilateral Medullary Thyroid Carcinoma in a 3-Year-Old Female Patient with Multiple Endocrine Neoplasia 2A Syndrome Undergoing Prophylactic Thyroidectomy: Should Current Guidelines Be Revised? ( 30374431 )
2018
6
Incidental Detection of Medullary Thyroid Carcinoma by 68Ga-DOTATATE PET/CT in a Patient With Neuroendocrine Tumor Liver Metastases. ( 29261627 )
2018
7
Synovial sarcoma masquerading as medullary thyroid carcinoma. ( 29873853 )
2018
8
Medullary thyroid carcinoma with breast metastasis: Two case reports. ( 30461619 )
2018
9
Revised American Thyroid Association Guidelines for the Management of Medullary Thyroid Carcinoma. ( 30478244 )
2018
10
Persistent disease and recurrence in medullary thyroid carcinoma: A case series. ( 30482582 )
2018
11
A novel CCK2/gastrin receptor-localizing radiolabeled peptide probe for personalized diagnosis and therapy of patients with progressive or metastatic medullary thyroid carcinoma - GRAN-T-MTC - a multicenter phase I study. ( 30516761 )
2018
12
PD-1/PD-L1 expressions in medullary thyroid carcinoma: Clinicopathologic and prognostic analysis of Chinese population. ( 30528043 )
2018
13
Replication of newly proposed TNM staging system for medullary thyroid carcinoma: a nationwide study. ( 30550378 )
2018
14
Can Medullary Thyroid Carcinoma Arise in Thyroglossal Duct Cysts? A Search for Parafollicular C-cells in 41 Resected Cases. ( 28536894 )
2018
15
Serum calcitonin reference values for calcium stimulation tests by electrochemiluminescence immunoassay in Japanese men with non-medullary thyroid carcinoma. ( 28821980 )
2018
16
Medullary Thyroid Carcinoma-We Should Do Better. ( 28973093 )
2018
17
Risk Factors Associated With Reoperation and Disease-Specific Mortality in Patients With Medullary Thyroid Carcinoma. ( 28973144 )
2018
18
Predictive Value of 18F-FDG PET in Patients with Advanced Medullary Thyroid Carcinoma Treated with Vandetanib. ( 29025983 )
2018
19
Metastatic medullary thyroid carcinoma or calcitonin-secreting carcinoid tumor of lung? A diagnostic dilemma in a patient with lung mass and thyroid nodule. ( 29124912 )
2018
20
Long-Term Outcome After Surgery for Medullary Thyroid Carcinoma: A Single-Center Experience. ( 29134313 )
2018
21
Characterization of neuroendocrine tumors in heterozygous mutant MENX rats: a novel model of invasive medullary thyroid carcinoma. ( 29142006 )
2018
22
Outcomes of Children and Adolescents with Advanced Hereditary Medullary Thyroid Carcinoma Treated with Vandetanib. ( 29187393 )
2018
23
Preoperative Clinical and Sonographic Predictors for Lateral Cervical Lymph Node Metastases in Sporadic Medullary Thyroid Carcinoma. ( 29350102 )
2018
24
Modifying impact of RET gene haplotypes on medullary thyroid carcinoma clinical course. ( 29386230 )
2018
25
Temporal Trends in the Presentation, Treatment, and Outcome of Medullary Thyroid Carcinoma: An Israeli Multicenter Study. ( 29402183 )
2018
26
Apatinib-treated advanced medullary thyroid carcinoma: a case report. ( 29403290 )
2018
27
Letter to the Editor regarding the paper by N. Azzam et al. 'Germline polymorphisms on RET proto-oncogene involved in medullary thyroid carcinoma in a Druze family'. ( 29433789 )
2018
28
Cabozantinib and Vandetanib in medullary thyroid carcinoma: mitochondrial function and its potential as a therapeutic target towards novel strategies to design anti-CSCs drugs. ( 29442576 )
2018
29
Medullary Thyroid Carcinoma: Survival Analysis and Evaluation of Mutation-Specific Immunohistochemistry in Detection of Sporadic Disease. ( 29484475 )
2018
30
Recurrent Medullary Thyroid Carcinoma on 68Ga-Prostate-Specific Membrane Antigen PET/CT: Exploring New Theranostic Avenues. ( 29485449 )
2018
31
Dynamic risk stratification in medullary thyroid carcinoma: Single institution experiences. ( 29505021 )
2018
32
Confocal Microscopy Observation of Cornea Verticillata After Vandetanib Therapy for Medullary Thyroid Carcinoma. ( 29521690 )
2018
33
Serum calcitonin negative mixed medullary-follicular carcinoma initially diagnosed as medullary thyroid carcinoma by fine-needle aspiration cytology: A case report and review of the literatures. ( 29524315 )
2018
34
Outcome of Treatment for Medullary Thyroid Carcinoma-a Single Centre Experience. ( 29563735 )
2018
35
Analysis of risk factors for cervical lymph node metastases in patients with sporadic medullary thyroid carcinoma. ( 29569965 )
2018
36
Barriers to the recognition of medullary thyroid carcinoma on FNA: Implications relevant to the new American Thyroid Association guidelines. ( 29579362 )
2018
37
Molecular signatures of medullary thyroid carcinoma by matrix-assisted laser desorption/ionisation mass spectrometry imaging. ( 29581064 )
2018
38
Postoperative Neck Ultrasonography Surveillance After Thyroidectomy in Patients With Medullary Thyroid Carcinoma: A Multicenter Study. ( 29599750 )
2018
39
Clinical significance of RET and RAS mutations in sporadic medullary thyroid carcinoma: a meta-analysis. ( 29615431 )
2018
40
Procalcitonin measurement to screen medullary thyroid carcinoma: A prospective evaluation in a series of 2705 patients with thyroid nodules. ( 29635700 )
2018
41
ERBB1- and ERBB2-Positive Medullary Thyroid Carcinoma: A Case Report. ( 29642647 )
2018
42
Unusual Metastasis of Medullary Thyroid Carcinoma to the Breast: A Cytological and Histopathological Correlation. ( 29643661 )
2018
43
Uptake of 99mTc-MIBI by Sclerosing Pneumocytoma Raising a False Suspicion of Metastasis From Medullary Thyroid Carcinoma. ( 29644341 )
2018
44
Intraocular metastasis of medullary thyroid carcinoma investigated by transscleral fine-needle aspiration. A case report and review of the literature. ( 29663723 )
2018
45
Medullary thyroid carcinoma: Application of Thyroid Imaging Reporting and Data System (TI-RADS) Classification. ( 29680915 )
2018
46
Procalcitonin as a postoperative marker in the follow-up of patients affected by medullary thyroid carcinoma. ( 29707993 )
2018
47
Retracted: Imprinted ZnO nanostructure-based electrochemical sensing of calcitonin: A clinical marker for medullary thyroid carcinoma. ( 29754602 )
2018
48
Radioguided hepatic resection with 18F-DOPA in a patient with metastatic medullary thyroid carcinoma. ( 29754940 )
2018
49
[18F]DOPA PET/ceCT in diagnosis and staging of primary medullary thyroid carcinoma prior to surgery. ( 29766245 )
2018
50
Efficacy of Vandetanib in Treating Locally Advanced or Metastatic Medullary Thyroid Carcinoma According to RECIST Criteria: A Systematic Review and Meta-Analysis. ( 29774010 )
2018

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 128)
# Gene Variation Type Significance SNP ID Assembly Location
1 NTRK1 NM_001007792.1(NTRK1): c.1730G> T (p.Gly577Val) single nucleotide variant Conflicting interpretations of pathogenicity rs6339 GRCh37 Chromosome 1, 156848946: 156848946
2 NTRK1 NM_001007792.1(NTRK1): c.1730G> T (p.Gly577Val) single nucleotide variant Conflicting interpretations of pathogenicity rs6339 GRCh38 Chromosome 1, 156879154: 156879154
3 RET NM_020975.4(RET): c.1901G> A (p.Cys634Tyr) single nucleotide variant Pathogenic rs75996173 GRCh37 Chromosome 10, 43609949: 43609949
4 RET NM_020975.4(RET): c.1901G> A (p.Cys634Tyr) single nucleotide variant Pathogenic rs75996173 GRCh38 Chromosome 10, 43114501: 43114501
5 RET NM_020975.4(RET): c.1901G> T (p.Cys634Phe) single nucleotide variant Pathogenic rs75996173 GRCh37 Chromosome 10, 43609949: 43609949
6 RET NM_020975.4(RET): c.1901G> T (p.Cys634Phe) single nucleotide variant Pathogenic rs75996173 GRCh38 Chromosome 10, 43114501: 43114501
7 RET NM_020975.4(RET): c.1853G> C (p.Cys618Ser) single nucleotide variant Pathogenic rs79781594 GRCh37 Chromosome 10, 43609097: 43609097
8 RET NM_020975.4(RET): c.1853G> C (p.Cys618Ser) single nucleotide variant Pathogenic rs79781594 GRCh38 Chromosome 10, 43113649: 43113649
9 RET NM_020975.5(RET): c.1859G> A (p.Cys620Tyr) single nucleotide variant Pathogenic rs77503355 GRCh37 Chromosome 10, 43609103: 43609103
10 RET NM_020975.5(RET): c.1859G> A (p.Cys620Tyr) single nucleotide variant Pathogenic rs77503355 GRCh38 Chromosome 10, 43113655: 43113655
11 RET NM_020975.5(RET): c.1900T> C (p.Cys634Arg) single nucleotide variant Pathogenic rs75076352 GRCh37 Chromosome 10, 43609948: 43609948
12 RET NM_020975.5(RET): c.1900T> C (p.Cys634Arg) single nucleotide variant Pathogenic rs75076352 GRCh38 Chromosome 10, 43114500: 43114500
13 RET NM_020975.4(RET): c.1902C> G (p.Cys634Trp) single nucleotide variant Pathogenic rs77709286 GRCh37 Chromosome 10, 43609950: 43609950
14 RET NM_020975.4(RET): c.1902C> G (p.Cys634Trp) single nucleotide variant Pathogenic rs77709286 GRCh38 Chromosome 10, 43114502: 43114502
15 RET NM_020975.4(RET): c.2753T> C (p.Met918Thr) single nucleotide variant Pathogenic rs74799832 GRCh37 Chromosome 10, 43617416: 43617416
16 RET NM_020975.4(RET): c.2753T> C (p.Met918Thr) single nucleotide variant Pathogenic rs74799832 GRCh38 Chromosome 10, 43121968: 43121968
17 RET NM_020975.4(RET): c.1859G> T (p.Cys620Phe) single nucleotide variant Pathogenic rs77503355 GRCh37 Chromosome 10, 43609103: 43609103
18 RET NM_020975.4(RET): c.1859G> T (p.Cys620Phe) single nucleotide variant Pathogenic rs77503355 GRCh38 Chromosome 10, 43113655: 43113655
19 RET NM_020975.4(RET): c.1852T> C (p.Cys618Arg) single nucleotide variant Pathogenic rs76262710 GRCh37 Chromosome 10, 43609096: 43609096
20 RET NM_020975.4(RET): c.1852T> C (p.Cys618Arg) single nucleotide variant Pathogenic rs76262710 GRCh38 Chromosome 10, 43113648: 43113648
21 RET NM_020975.4(RET): c.2304G> C (p.Glu768Asp) single nucleotide variant Pathogenic/Likely pathogenic rs78014899 GRCh37 Chromosome 10, 43613840: 43613840
22 RET NM_020975.4(RET): c.2304G> C (p.Glu768Asp) single nucleotide variant Pathogenic/Likely pathogenic rs78014899 GRCh38 Chromosome 10, 43118392: 43118392
23 RET NM_020975.4(RET): c.1826G> A (p.Cys609Tyr) single nucleotide variant Pathogenic rs77939446 GRCh37 Chromosome 10, 43609070: 43609070
24 RET NM_020975.4(RET): c.1826G> A (p.Cys609Tyr) single nucleotide variant Pathogenic rs77939446 GRCh38 Chromosome 10, 43113622: 43113622
25 RET NM_020975.4(RET): c.2370G> C (p.Leu790Phe) single nucleotide variant Pathogenic/Likely pathogenic rs75030001 GRCh37 Chromosome 10, 43613906: 43613906
26 RET NM_020975.4(RET): c.2370G> C (p.Leu790Phe) single nucleotide variant Pathogenic/Likely pathogenic rs75030001 GRCh38 Chromosome 10, 43118458: 43118458
27 RET NM_020975.4(RET): c.1859G> C (p.Cys620Ser) single nucleotide variant Pathogenic rs77503355 GRCh37 Chromosome 10, 43609103: 43609103
28 RET NM_020975.4(RET): c.2372A> T (p.Tyr791Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs77724903 GRCh37 Chromosome 10, 43613908: 43613908
29 RET NM_020975.4(RET): c.2372A> T (p.Tyr791Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs77724903 GRCh38 Chromosome 10, 43118460: 43118460
30 RET NM_020975.4(RET): c.2944C> T (p.Arg982Cys) single nucleotide variant risk factor rs17158558 GRCh37 Chromosome 10, 43620335: 43620335
31 RET NM_020975.4(RET): c.2944C> T (p.Arg982Cys) single nucleotide variant risk factor rs17158558 GRCh38 Chromosome 10, 43124887: 43124887
32 RET NM_020630.4(RET): c.1586_1594dupAGGAGTGTG (p.Cys531_Gly532insGluGluCys) duplication Pathogenic rs377767434 GRCh37 Chromosome 10, 43607610: 43607618
33 RET NM_020630.4(RET): c.1586_1594dupAGGAGTGTG (p.Cys531_Gly532insGluGluCys) duplication Pathogenic rs377767434 GRCh38 Chromosome 10, 43112162: 43112170
34 RET NM_020975.4(RET): c.1859G> C (p.Cys620Ser) single nucleotide variant Pathogenic rs77503355 GRCh38 Chromosome 10, 43113655: 43113655
35 RET NM_020975.4(RET): c.1825T> C (p.Cys609Arg) single nucleotide variant Pathogenic rs77558292 GRCh37 Chromosome 10, 43609069: 43609069
36 RET NM_020975.4(RET): c.1825T> C (p.Cys609Arg) single nucleotide variant Pathogenic rs77558292 GRCh38 Chromosome 10, 43113621: 43113621
37 RET NM_020975.4(RET): c.2410G> A (p.Val804Met) single nucleotide variant Pathogenic/Likely pathogenic rs79658334 GRCh37 Chromosome 10, 43614996: 43614996
38 RET NM_020975.4(RET): c.2410G> A (p.Val804Met) single nucleotide variant Pathogenic/Likely pathogenic rs79658334 GRCh38 Chromosome 10, 43119548: 43119548
39 RET NM_020630.4(RET): c.2410G> T (p.Val804Leu) single nucleotide variant Pathogenic rs79658334 GRCh37 Chromosome 10, 43614996: 43614996
40 RET NM_020630.4(RET): c.2410G> T (p.Val804Leu) single nucleotide variant Pathogenic rs79658334 GRCh38 Chromosome 10, 43119548: 43119548
41 RET NM_020975.4(RET): c.1597G> T (p.Gly533Cys) single nucleotide variant Pathogenic rs75873440 GRCh37 Chromosome 10, 43607621: 43607621
42 RET NM_020975.4(RET): c.1597G> T (p.Gly533Cys) single nucleotide variant Pathogenic rs75873440 GRCh38 Chromosome 10, 43112173: 43112173
43 RET NM_020975.4(RET): c.2671T> G (p.Ser891Ala) single nucleotide variant Pathogenic rs75234356 GRCh37 Chromosome 10, 43615592: 43615592
44 RET NM_020975.4(RET): c.2671T> G (p.Ser891Ala) single nucleotide variant Pathogenic rs75234356 GRCh38 Chromosome 10, 43120144: 43120144
45 RET NM_020630.4(RET): c.961G> A (p.Gly321Arg) single nucleotide variant Uncertain significance rs377767388 GRCh37 Chromosome 10, 43601917: 43601917
46 RET NM_020630.4(RET): c.961G> A (p.Gly321Arg) single nucleotide variant Uncertain significance rs377767388 GRCh38 Chromosome 10, 43106469: 43106469
47 RET NM_020975.4(RET): c.1531G> A (p.Glu511Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs201553718 GRCh37 Chromosome 10, 43607555: 43607555
48 RET NM_020975.4(RET): c.1531G> A (p.Glu511Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs201553718 GRCh38 Chromosome 10, 43112107: 43112107
49 RET NM_020975.4(RET): c.1853G> A (p.Cys618Tyr) single nucleotide variant Pathogenic rs79781594 GRCh37 Chromosome 10, 43609097: 43609097
50 RET NM_020975.4(RET): c.1853G> A (p.Cys618Tyr) single nucleotide variant Pathogenic rs79781594 GRCh38 Chromosome 10, 43113649: 43113649

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 COSM249791 RET thyroid,NS,carcinoma,medullary carcinoma c.1843G>A p.E615K 10:43113639-43113639 39
9 COSM964 RET thyroid,NS,carcinoma,medullary carcinoma c.1888T>C p.C630R 10:43114488-43114488 39
10 COSM966 RET thyroid,NS,carcinoma,medullary carcinoma c.1900T>C p.C634R 10:43114500-43114500 39
11 COSM21338 RET thyroid,NS,carcinoma,medullary carcinoma c.2304G>C p.E768D 10:43118392-43118392 39
12 COSM29803 RET thyroid,NS,carcinoma,medullary carcinoma c.1852T>C p.C618R 10:43113648-43113648 39
13 COSM133167 RET thyroid,NS,carcinoma,medullary carcinoma c.2647G>T p.A883S 10:43120120-43120120 39
14 COSM959 RET thyroid,NS,carcinoma,medullary carcinoma c.2627C>T p.A876V 10:43120100-43120100 39
15 COSM29807 RET thyroid,NS,carcinoma,medullary carcinoma c.1902C>T p.C634C 10:43114502-43114502 39
16 COSM249789 RET thyroid,NS,carcinoma,medullary carcinoma c.2117T>C p.V706A 10:43114717-43114717 39
17 COSM249790 RET thyroid,NS,carcinoma,medullary carcinoma c.2680G>A p.G894S 10:43120153-43120153 39
18 COSM1237918 RET thyroid,NS,carcinoma,medullary carcinoma c.1900T>A p.C634S 10:43114500-43114500 39
19 COSM6005497 RET thyroid,NS,carcinoma,medullary carcinoma c.1924G>A p.V642I 10:43114524-43114524 39
20 COSM249792 RET thyroid,NS,carcinoma,medullary carcinoma c.2041C>T p.Q681* 10:43114641-43114641 39
21 COSM5945770 RET thyroid,NS,carcinoma,medullary carcinoma c.2733T>G p.G911G 10:43121948-43121948 39
22 COSM960 RET thyroid,NS,carcinoma,medullary carcinoma c.2650G>A p.E884K 10:43120123-43120123 39
23 COSM5945755 RET thyroid,NS,carcinoma,medullary carcinoma c.2771T>C p.F924S 10:43121986-43121986 39
24 COSM963 RET thyroid,NS,carcinoma,medullary carcinoma c.2701G>A p.E901K 10:43120174-43120174 39
25 COSM5598719 RET thyroid,NS,carcinoma,medullary carcinoma c.2137G>A p.E713K 10:43116584-43116584 39
26 COSM975 RET thyroid,NS,carcinoma,medullary carcinoma c.1902C>G p.C634W 10:43114502-43114502 39
27 COSM5945761 RET thyroid,NS,carcinoma,medullary carcinoma c.2256C>T p.Y752Y 10:43116703-43116703 39
28 COSM5945760 RET thyroid,NS,carcinoma,medullary carcinoma c.2752A>C p.M918L 10:43121967-43121967 39
29 COSM961 RET thyroid,NS,carcinoma,medullary carcinoma c.2723G>A p.R908K 10:43120196-43120196 39
30 COSM978 RET thyroid,NS,carcinoma,medullary carcinoma c.1892A>G p.D631G 10:43114492-43114492 39
31 COSM4170226 RET thyroid,NS,carcinoma,medullary carcinoma c.1946C>T p.S649L 10:43114546-43114546 39
32 COSM971 RET thyroid,NS,carcinoma,medullary carcinoma c.2296C>T p.P766S 10:43118384-43118384 39
33 COSM918118 RET thyroid,NS,carcinoma,medullary carcinoma c.2038G>A p.A680T 10:43114638-43114638 39
34 COSM29806 RET thyroid,NS,carcinoma,medullary carcinoma c.1888T>G p.C630G 10:43114488-43114488 39
35 COSM20889 RET thyroid,NS,carcinoma,medullary carcinoma c.2761G>A p.E921K 10:43121976-43121976 39
36 COSM6005498 RET thyroid,NS,carcinoma,medullary carcinoma c.1886T>A p.L629Q 10:43114486-43114486 39
37 COSM970 RET thyroid,NS,carcinoma,medullary carcinoma c.2756C>T p.A919V 10:43121971-43121971 39
38 COSM5945757 RET thyroid,NS,carcinoma,medullary carcinoma c.2180G>A p.G727E 10:43116627-43116627 39
39 COSM5945758 RET thyroid,NS,carcinoma,medullary carcinoma c.1804A>G p.I602V 10:43113600-43113600 39
40 COSM5945763 RET thyroid,NS,carcinoma,medullary carcinoma c.1983C>T p.H661H 10:43114583-43114583 39
41 COSM958 RET thyroid,NS,carcinoma,medullary carcinoma c.2242G>T p.G748C 10:43116689-43116689 39
42 COSM5946160 RET thyroid,NS,carcinoma,medullary carcinoma c.1858T>A p.C620S 10:43113654-43113654 39
43 COSM20888 RET thyroid,NS,carcinoma,medullary carcinoma c.2732G>A p.G911D 10:43121947-43121947 39
44 COSM3437784 RET thyroid,NS,carcinoma,medullary carcinoma c.2206G>A p.G736R 10:43116653-43116653 39
45 COSM980 RET thyroid,NS,carcinoma,medullary carcinoma c.1853G>A p.C618Y 10:43113649-43113649 39
46 COSM5945762 RET thyroid,NS,carcinoma,medullary carcinoma c.2249C>G p.A750G 10:43116696-43116696 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

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.5 CALCA CALCB CCK CCKBR EDNRB GDNF
2
Show member pathways
13.33 CALCA CALCB CCK CCKBR EDNRB SST
3 12.6 EDNRB ESR2 KRAS NTRK1 RET
4 12.3 CALCA NKX2-1 NTRK1 RET SSTR1
5
Show member pathways
11.93 GDNF GFRA1 KRAS RET
6 11.42 KRAS NTRK1 RET
7 11.23 ESR2 RET SST SSTR1 SSTR2
8 11.07 GDNF GFRA1 RET
9 10.91 GDNF GFRA1 RET
10 10.61 CCK CCKBR
11 9.91 GDNF GFRA1 RET

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 receptor complex GO:0043235 9.26 GFRA1 NTRK1 OSMR RET
2 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 9.92 MEN1 NTRK1 SST SSTR1 SSTR2
4 cell surface receptor signaling pathway GO:0007166 9.88 CCKBR EDNRB GFRA1 SST
5 regulation of signaling receptor activity GO:0010469 9.85 CALCA CALCB CCK GDNF SST TG
6 neuropeptide signaling pathway GO:0007218 9.77 CALCA SSTR1 SSTR2
7 forebrain development GO:0030900 9.72 NKX2-1 SSTR1 SSTR2
8 MAPK cascade GO:0000165 9.72 GDNF GFRA1 KRAS MEN1 RET
9 regulation of blood pressure GO:0008217 9.69 CALCA CHGA EDNRB
10 neural crest cell migration GO:0001755 9.65 EDNRB GDNF RET
11 epithelial tube branching involved in lung morphogenesis GO:0060441 9.61 KRAS NKX2-1
12 sympathetic nervous system development GO:0048485 9.6 GDNF NTRK1
13 detection of temperature stimulus involved in sensory perception of pain GO:0050965 9.58 CALCA NTRK1
14 peristalsis GO:0030432 9.56 GDNF SSTR2
15 axon guidance GO:0007411 9.55 GDNF GFRA1 NKX2-1 NTRK1 RET
16 glial cell-derived neurotrophic factor receptor signaling pathway GO:0035860 9.54 GFRA1 RET
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 9.4 EDNRB RET
20 signal transduction GO:0007165 9.36 CALCB CCK CCKBR EDNRB ESR2 GDNF
21 enteric nervous system development GO:0048484 9.13 EDNRB GDNF RET
22 G protein-coupled receptor signaling pathway GO:0007186 10.03 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 hormone activity GO:0005179 9.26 CALCA CCK SST TG
2 somatostatin receptor activity GO:0004994 9.16 SSTR1 SSTR2
3 calcitonin receptor binding GO:0031716 8.62 CALCA CALCB

Sources for Thyroid Carcinoma, Familial Medullary

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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