MTC
MCID: THY014
MIFTS: 74

Thyroid Medullary Carcinoma (MTC) malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Endocrine diseases, Cancer diseases categories
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Summaries for Thyroid Medullary Carcinoma

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Wikipedia:65 Medullary thyroid cancer (MTC) is a form of thyroid carcinoma which originates from the parafollicular... more...

MalaCards based summary: Thyroid Medullary Carcinoma, also known as medullary thyroid carcinoma, is related to familial medullary thyroid carcinoma and hirschsprung's disease, and has symptoms including acute diarrhea, thyroid neoplasm/tumor/carcinoma/cancer and autosomal dominant inheritance. An important gene associated with Thyroid Medullary Carcinoma is RET (ret proto-oncogene), and among its related pathways are Glucocorticoid Pathway (HPA Axis), Pharmacodynamics and SIDS Susceptibility Pathways. The compounds 111in-pentetreotide and capsaicin have been mentioned in the context of this disorder. Affiliated tissues include thyroid, bone and skin, and related mouse phenotypes are no phenotypic analysis and respiratory system.

Disease Ontology:8 A follicular thyroid carcinoma that has material basis in parafollicular cells.

Descriptions from OMIM:46 155240,162300,171400

Aliases & Classifications for Thyroid Medullary Carcinoma

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 22GTR, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 57SNOMED-CT, 39NCIt, 34MeSH, 26ICD10 via Orphanet, 35MESH via Orphanet, 63UMLS via Orphanet
See all sources

Thyroid Medullary Carcinoma, Aliases & Descriptions:

Name: Thyroid Medullary Carcinoma 8 10
Medullary Thyroid Carcinoma 8 9 46 48
Medullary Carcinoma of the Thyroid Gland 8 62
Familial Medullary Thyroid Carcinoma 48 62
Multiple Endocrine Neoplasia Type 2 48 62
Thyroid Carcinoma, Medullary 42 22
Medullary Carcinoma of Thyroid 62
Ultimobranchial Thyroid Tumour 8
Ultimobranchial Thyroid Tumor 8
 
Malignant Neoplasm of Thyroid 62
Thyroid Carcinoma Medullary 44
Thyroid Cancer, Medullary 42
Medullary Thyroid Cancer 42
Familial Mtc 48
Men 2 62
Men2 48
Mtc 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
multiple endocrine neoplasia type 2:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Variable; Age of death: Normal
medullary thyroid carcinoma:
Inheritance: Sporadic; Prevalence: 1-9/100000; Age of onset: Adulthood
familial medullary thyroid carcinoma:
Inheritance: Autosomal dominant


External Ids:

Disease Ontology8 DOID:3973
NCIt39 C3879
MeSH34 C536914
ICD10 via Orphanet26 D44.8, C73
MESH via Orphanet35 C536914, C536911
UMLS via Orphanet63 C0238462, C1833921

Related Diseases for Thyroid Medullary Carcinoma

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Diseases in the Thyroid Medullary Carcinoma family:

Familial Medullary Thyroid Carcinoma Ntrk1-Related Familial Medullary Thyroid Carcinoma

Diseases related to Thyroid Medullary Carcinoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 182)
idRelated DiseaseScoreTop Affiliating Genes
1familial medullary thyroid carcinoma32.2RET, CALCA
2hirschsprung's disease31.2NTRK1, RET, SYP
3neuroendocrine tumor31.2CALCA, SST
4phaeochromocytoma31.2CALCA, RET
5cushing's syndrome31.0CRH, SST
6neuroma30.9CALCA, RET
7somatostatinoma30.8CALCA, SST
8goiter30.7RET, TG, CALCA
9neurofibromatosis30.7ENO2, SST, RET
10multiple endocrine neoplasia type 2a30.6CALCA, RET
11nodular goiter30.6TG, RET, CALCA
12parathyroid adenoma30.6PTHLH, RET, CALCA
13multiple endocrine neoplasia30.5RET, CALCA, TG
14hyperparathyroidism30.5PTHLH, CALCA, RET
15papillary thyroid carcinoma30.5RET, NTRK1, TG
16primary hyperparathyroidism30.5PTHLH, RET, CALCA
17ganglioneuroma30.4RET, NTRK1, SYP, ENO2
18neuroblastoma30.4NTS, SYP, ENO2, NTRK1
19adrenocortical carcinoma30.3MKI67, SYP, CRAT, CRH
20hyperthyroidism30.3NTS, SST, TG
21neuroendocrine carcinoma30.3SST, SYP, CALCA, ENO2, GRP
22leukemia30.0CRAT, NTRK1, NTS, JUN, GRP
23paraganglioma29.7TG, ENO2, SST, GRP, SYP, CALCA
24papillary carcinoma29.6NTRK1, SYP, RET, TG, MKI67, CALCA
25pheochromocytoma29.2NTRK1, JUN, RET, SST, NTS, SYP
26adenocarcinoma29.1GRP, COPS5, SYP, NTRK1, SST, NTS
27adenoma28.5MKI67, TG, RET, SST, NTS, NTRK1
28thyroiditis11.0
29somatostatin analog10.6
30melanotic neuroectodermal tumor10.6SYP
31von hippel-lindau disease10.5
32amyloidosis10.5
33hypoadrenalism10.5CRH
34cerebral primitive neuroectodermal tumor10.5ENO2
35acth-secreting pituitary adenoma10.5CRH
36dysembryoplastic neuroepithelial tumor10.5SYP
37endogenous depression10.5CRH
38thyroid cancer10.5
39subependymal giant cell astrocytoma10.5SYP, ENO2
40zollinger-ellison syndrome10.4GRP, SST
41vipoma10.4NTS, SST
42lichen amyloidosis10.4
43sertoli cell tumor10.4ENO2, SYP
44pineocytoma10.4ENO2, SYP
45neuroectodermal tumor10.4SYP, ENO2
46bronchopulmonary dysplasia10.4GRP, PTHLH
47merkel cell carcinoma10.4SYP, ENO2
48pancreatic islet cell tumors10.4PTHLH, SST
49dumping syndrome10.4SST, NTS
50cowden disease10.4RET

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



Diseases related to thyroid medullary carcinoma

Symptoms for Thyroid Medullary Carcinoma

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Clinical features from OMIM:

155240,162300,171400

Symptoms:

48 (show all 65)
  • acute diarrhea
  • thyroid neoplasm/tumor/carcinoma/cancer
  • autosomal dominant inheritance
  • anomalies of eyelids, eyelashes and lacrimal system
  • thick lips
  • anomalies of tongue, gingiva and oral mucosa
  • dry/squaly skin/exfoliation
  • irregular/in bands/reticular skin hyperpigmentation
  • acute abdominal pain/colic
  • constipation
  • chronic arterial hypertension
  • acute arterial hypertension/hypertensive crisis
  • lymphadenopathy/polyadenopathies
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  • cortico-adrenal hyperplasia/hypersecretion
  • diabetes mellitus
  • facial pain/cephalalgia/migraine
  • anorexia
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • myopathy
  • adrenal neoplasm/tumor/carcinoma/cancer
  • pheochromocytoma/paraganglioma
  • asthenia/fatigue/weakness
  • hot flushes/sensation of cold
  • corneal dystrophy
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • pectus excavatum
  • kyphosis
  • lordosis
  • scoliosis
  • long hand/arachnodactyly
  • patella absent/abnormal (excluding luxation)
  • pes cavus
  • cutaneous rash
  • pruritus/itching
  • cafe-au-lait spot
  • xanthomas/lipomas
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • polyposis of the bowel/colon/intestine
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • intestinal obstruction/ileus
  • cardiac rhythm disorder/arrhythmia
  • edema of the legs/lower limbs
  • urinary/renal lithiasis/kidney stones/nephritic colic
  • hyperparathyroidy
  • peripheral neuropathy
  • tremor
  • hypotonia
  • paresthesia/dysesthesia/hypoesthesia/anesthesia/numbness
  • obnubilation/coma/lethargia/desorientation
  • muscle weakness/flaccidity
  • bone pain
  • narrowed/gracile diaphysis/diaphyses/long bones/dolichostenomelia
  • hyperextensible joints/articular hyperlaxity
  • hypercalcemia
  • digestive neoplasm/tumor/carcinoma/cancer
  • benign tumor of the brain/nervous system
  • tall stature/gigantism/growth acceleration
  • early death/lethality
  • marfanoid morphotype
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • fever/chilling
  • dehydration/hydroelectrolytic loss
  • pallor
  • biological inflammatory syndrome/increased erythrocyte sedimentation rate/crp

HPO human phenotypes related to Thyroid Medullary Carcinoma:

(show all 55)
id Description Frequency HPO Source Accession
1 diarrhea hallmark (90%) HP:0002014
2 neoplasm of the thyroid gland hallmark (90%) HP:0100031
3 thick lower lip vermilion typical (50%) HP:0000179
4 behavioral abnormality typical (50%) HP:0000708
5 diabetes mellitus typical (50%) HP:0000819
6 dry skin typical (50%) HP:0000958
7 hypercortisolism typical (50%) HP:0001578
8 constipation typical (50%) HP:0002019
9 abdominal pain typical (50%) HP:0002027
10 anorexia typical (50%) HP:0002039
11 migraine typical (50%) HP:0002076
12 lymphadenopathy typical (50%) HP:0002716
13 myopathy typical (50%) HP:0003198
14 irregular hyperpigmentation typical (50%) HP:0007400
15 impaired temperature sensation typical (50%) HP:0010829
16 abnormal renal physiology typical (50%) HP:0012211
17 neoplasm of the adrenal gland typical (50%) HP:0100631
18 neuroendocrine neoplasm typical (50%) HP:0100634
19 hypertensive crisis typical (50%) HP:0100735
20 cleft palate occasional (7.5%) HP:0000175
21 pectus excavatum occasional (7.5%) HP:0000767
22 nephrolithiasis occasional (7.5%) HP:0000787
23 hyperparathyroidism occasional (7.5%) HP:0000843
24 cafe-au-lait spot occasional (7.5%) HP:0000957
25 pallor occasional (7.5%) HP:0000980
26 skin rash occasional (7.5%) HP:0000988
27 pruritus occasional (7.5%) HP:0000989
28 multiple lipomas occasional (7.5%) HP:0001012
29 corneal dystrophy occasional (7.5%) HP:0001131
30 arachnodactyly occasional (7.5%) HP:0001166
31 muscular hypotonia occasional (7.5%) HP:0001252
32 muscle weakness occasional (7.5%) HP:0001324
33 tremor occasional (7.5%) HP:0001337
34 joint hypermobility occasional (7.5%) HP:0001382
35 disproportionate tall stature occasional (7.5%) HP:0001519
36 pes cavus occasional (7.5%) HP:0001761
37 weight loss occasional (7.5%) HP:0001824
38 dehydration occasional (7.5%) HP:0001944
39 nausea and vomiting occasional (7.5%) HP:0002017
40 aganglionic megacolon occasional (7.5%) HP:0002251
41 scoliosis occasional (7.5%) HP:0002650
42 bone pain occasional (7.5%) HP:0002653
43 kyphosis occasional (7.5%) HP:0002808
44 hypercalcemia occasional (7.5%) HP:0003072
45 slender long bone occasional (7.5%) HP:0003100
46 hyperlordosis occasional (7.5%) HP:0003307
47 paresthesia occasional (7.5%) HP:0003401
48 abnormality of temperature regulation occasional (7.5%) HP:0004370
49 reduced consciousness/confusion occasional (7.5%) HP:0004372
50 intestinal obstruction occasional (7.5%) HP:0005214
51 patellar aplasia occasional (7.5%) HP:0006443
52 edema of the lower limbs occasional (7.5%) HP:0010741
53 arrhythmia occasional (7.5%) HP:0011675
54 benign neoplasm of the central nervous system occasional (7.5%) HP:0100835
55 intestinal polyposis occasional (7.5%) HP:0200008

Drugs & Therapeutics for Thyroid Medullary Carcinoma

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Drug clinical trials:

Search ClinicalTrials for Thyroid Medullary Carcinoma

Search NIH Clinical Center for Thyroid Medullary Carcinoma

Genetic Tests for Thyroid Medullary Carcinoma

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Genetic tests related to Thyroid Medullary Carcinoma:

id Genetic test Affiliating Genes
1 Medullary Thyroid Carcinoma22

Anatomical Context for Thyroid Medullary Carcinoma

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MalaCards organs/tissues related to Thyroid Medullary Carcinoma:

32
Thyroid, Bone, Skin, Brain, Colon, Kidney, Tongue, Thymus

Animal Models for Thyroid Medullary Carcinoma or affiliated genes

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MGI Mouse Phenotypes related to Thyroid Medullary Carcinoma:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.9JUN, SYP, NTRK1, NTS, SST, RET
2MP:00053888.4RET, JUN, PTHLH, CALCA, CRH, ENO2
3MP:00053978.2CRH, NTRK1, RET, JUN, COPS5, PTHLH
4MP:00028737.7COPS5, JUN, RET, SST, NTRK1, SYP
5MP:00053867.3ENO2, CRH, UCN, CALCA, CALB1, NTRK1
6MP:00053786.9NTRK1, NTS, PTHLH, RET, JUN, TG
7MP:00036316.7PTHLH, ENO2, CRH, UCN, RET, CALCA
8MP:00053766.6COPS5, RET, SST, NTS, CRH, CALCA

Publications for Thyroid Medullary Carcinoma

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Articles related to Thyroid Medullary Carcinoma:

(show all 46)
idTitleAuthorsYear
1
Adult cervical thymus revealed by thyroid medullary carcinoma. (24362483)
2013
2
Chronic bronchitis mimicking metastases from thyroid medullary carcinoma demonstrated by indium-111 pentetreotide scintigraphy. (18442958)
2008
3
A case of multiple endocrine neoplasia type II accompanied by thyroid medullary carcinoma and pheochromocytomas expressing corticotropin-releasing factor and urocortins. (18480660)
2008
4
Thyroid medullary carcinoma in a teenager with Cowden syndrome. (17603316)
2007
5
Expression of Jun activation domain-binding protein 1 and p27 (Kip1) in thyroid medullary carcinoma. (16175894)
2005
6
Multiple endocrine neoplasias type 2A and thyroid medullary carcinoma: an interdisciplinary challenge. (12721726)
2003
7
The effect of calcitriol and its analogues on proliferation and hormone expression in cultured cells of thyroid medullary carcinomas. (14655142)
2003
8
Long-term survivor without recurrence after resection of simultaneous solitary pancreatic metastasis from thyroid medullary carcinoma. (14571817)
2003
9
Effect of octreotide on proliferation of in vitro cultured thyroid medullary carcinoma cells. (11374817)
2001
10
Prophylactic thyroidectomy in the treatment of thyroid medullary carcinoma. Age for surgery? (11194546)
2000
11
Studies on cultured cells of thyroid medullary carcinoma with the use of immunocytochemical techniques. (10352959)
1999
12
Presence of atrial natriuretic peptide in rat thyroid medullary carcinoma cell line. (9831383)
1998
13
Characterisation of thyroid medullary carcinoma TT cell line. (9046062)
1997
14
Thyroid medullary carcinoma occurring laterally in the neck. (9062519)
1997
15
Immunocytochemical localization of hormones and functional proteins in cultured cells of thyroid medullary carcinoma. (8878649)
1996
16
The effect of steroids and their complexes with cyclodextrins on secretory activity of cultured thyroid medullary carcinoma cells. (8878650)
1996
17
Immunocytochemical characterization of two thyroid medullary carcinoma cell lines in vitro. (8787964)
1995
18
Glucocorticoids inhibit somatostatin gene expression through accelerated degradation of somatostatin messenger ribonucleic acid in human thyroid medullary carcinoma (TT) cells. (7750460)
1995
19
Detection of cervical metastases of thyroid medullary carcinoma by MoAb anti-CEA scintigraphy and immunohistochemistry. (7588944)
1995
20
Thyroid medullary carcinoma with thyroglobulin immunoreactivity in sporadic multiple endocrine neoplasia type 2-B. (7913660)
1994
21
Prognostic implications of image cytometric assessments of nuclear DNA distribution pattern of neoplastic cells in thyroid medullary carcinoma. A retrospective study using disaggregated, formalin-fixed, paraffin-embedded specimens. (1859647)
1991
22
Calcitonin, calcitonin gene-related peptide, and gastrin-releasing peptide in familial thyroid medullary carcinoma. (2300897)
1990
23
The ret proto-oncogene is consistently expressed in human pheochromocytomas and thyroid medullary carcinomas. (1701232)
1990
24
Coexistence of somatostatin-immunoreactivity in an adrenal pheochromocytoma and a thyroid medullary carcinoma (Sipple syndrome). (2900771)
1988
25
Thyroid medullary carcinoma of the Djungarian hamster Phodopus sungorus. Ultrastructural evidence for the production of normal and atypical intracellular granules. (2895541)
1988
26
Abnormal expression of the MOS proto-oncogene in human thyroid medullary carcinoma. (2974318)
1988
27
Morphological changes of human thyroid medullary carcinoma cell line treated with calcium channel antagonist nifedipine. (3253470)
1988
28
Establishment of a new human thyroid medullary carcinoma cell line. Morphological studies. (2891216)
1987
29
Characterization of opioid peptides in human thyroid medullary carcinoma. (3828959)
1987
30
Occurrence of calcitonin, somatostatin-like immunoreactivity, and carcinoembryonic antigen in two sisters suffering from familial thyroid medullary carcinoma. (2881797)
1986
31
Neuroendocrine carcinomas of the larynx. A study of two types, one of which mimics thyroid medullary carcinoma. (2866724)
1985
32
Fine structure of crystalloid inclusions in the nucleus of thyroid medullary carcinoma cells. (3014031)
1985
33
Cutaneous metastasis of a radiation-associated thyroid medullary carcinoma. (6397504)
1984
34
Calcitonin, somatostatin and ACTH immunoreactive cells in a case of familial bilateral thyroid medullary carcinoma. (6126268)
1982
35
The ultrastructure of the thyroid medullary carcinoma. (6460172)
1981
36
Ultrastructural morphometry of the secretory granules in thyroid medullary carcinoma. (7433865)
1980
37
Multiple endocrine cell types in thyroid medullary carcinoma. Evidence for calcitonin, somatostatin, ACTH, 5HT and small granule cells. (205037)
1978
38
Ultrastructural study of thyroid medullary carcinoma. (201148)
1977
39
Bradshaw lecture, 1976. Thyroid medullary carcinoma. (20027)
1977
40
Isolation of calcitonin from rat thyroid medullary carcinoma. (1278428)
1976
41
Diarrhoeae in thyroid medullary carcinoma: role of prostaglandins and therapeutic effect of nutmeg. (1169097)
1975
42
The formation of thyroglobulin in human thyroid medullary carcinoma. (4800833)
1973
43
Histologic and ultracytochemical studies on thyroid medullary carcinoma. Diagnostic significance of argyrophil secretory granules. (4116425)
1972
44
Reversible suppression of alkaline phosphatase in human thyroid medullary carcinoma cells transformed by SV40. (4333786)
1972
45
Thyroid medullary carcinoma and absent histamine flare. (5060501)
1972
46
Plasma calcitonin activity in a patient with thyroid medullary carcinoma and her children with osteopetrosis. (5539034)
1971

Variations for Thyroid Medullary Carcinoma

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

64 (show all 30)
id Symbol AA change Variation ID SNP ID
1RETp.Cys609TyrVAR_006306rs77939446
2RETp.Cys611TrpVAR_006308rs80069458
3RETp.Cys618ArgVAR_006311rs76262710
4RETp.Cys618PheVAR_006312
5RETp.Cys618SerVAR_006313rs79781594
6RETp.Cys618TyrVAR_006314
7RETp.Cys620GlyVAR_006315
8RETp.Cys620ArgVAR_006316
9RETp.Cys620SerVAR_006317
10RETp.Cys620PheVAR_006318rs77503355
11RETp.Cys630PheVAR_006320
12RETp.Cys634TyrVAR_006325
13RETp.Cys634ArgVAR_006326
14RETp.Cys634SerVAR_006327
15RETp.Cys634TrpVAR_006328
16RETp.Glu768AspVAR_006335rs78014899
17RETp.Val804LeuVAR_006336rs79658334
18RETp.Val804MetVAR_006337rs79658334
19RETp.Met918ThrVAR_006342rs74799832
20RETp.Thr946MetVAR_006345
21RETp.Cys611GlyVAR_009472
22RETp.Cys630SerVAR_009477
23RETp.Cys630TyrVAR_009478
24RETp.Leu790PheVAR_009482rs75030001
25RETp.Tyr791PheVAR_009483rs77724903
26RETp.Ser891AlaVAR_009486rs75234356
27RETp.Arg844LeuVAR_011582rs55947360
28RETp.Ala639GlyVAR_012743
29RETp.Ala641GlyVAR_012744
30RETp.Ser922PheVAR_012745

Clinvar genetic disease variations for Thyroid Medullary Carcinoma:

6 (show all 42)
id Gene Name Type Significance SNP ID Assembly Location
1NTRK1NM_001007792.1(NTRK1): c.1730G> T (p.Gly577Val)single nucleotide variantPathogenicrs6339GRCh37Chr 1, 156848946: 156848946
2NTRK1NM_001007792.1(NTRK1): c.1730G> T (p.Gly577Val)single nucleotide variantPathogenicrs6339GRCh37Chr 1, 156848946: 156848946
3RETNM_020975.4(RET): c.1852T> G (p.Cys618Gly)single nucleotide variantPathogenicrs76262710GRCh37Chr 10, 43609096: 43609096
4RETNM_020975.4(RET): c.1896G> C (p.Glu632Asp)single nucleotide variantPathogenicrs387906531GRCh37Chr 10, 43609944: 43609944
5RETNM_020975.4(RET): c.1900T> G (p.Cys634Gly)single nucleotide variantPathogenicrs75076352GRCh37Chr 10, 43609948: 43609948
6RETNM_020975.4(RET): c.1901G> A (p.Cys634Tyr)single nucleotide variantPathogenicrs75996173GRCh37Chr 10, 43609949: 43609949
7RETNM_020975.4(RET): c.1901G> C (p.Cys634Ser)single nucleotide variantPathogenicrs75996173GRCh37Chr 10, 43609949: 43609949
8RETNM_020975.4(RET): c.1901G> T (p.Cys634Phe)single nucleotide variantPathogenicrs75996173GRCh37Chr 10, 43609949: 43609949
9RETNM_020975.4(RET): c.1833C> G (p.Cys611Trp)single nucleotide variantPathogenicrs80069458GRCh37Chr 10, 43609077: 43609077
10RETNM_020975.4(RET): c.1853G> C (p.Cys618Ser)single nucleotide variantPathogenicrs79781594GRCh37Chr 10, 43609097: 43609097
11RETNM_020975.4(RET): c.1858T> C (p.Cys620Arg)single nucleotide variantPathogenicrs77316810GRCh37Chr 10, 43609102: 43609102
12RETNM_020975.4(RET): c.1859G> A (p.Cys620Tyr)single nucleotide variantPathogenicrs77503355GRCh37Chr 10, 43609103: 43609103
13RETNM_020975.4(RET): c.1900T> C (p.Cys634Arg)single nucleotide variantPathogenicrs75076352GRCh37Chr 10, 43609948: 43609948
14RETNM_020975.4(RET): c.1902C> G (p.Cys634Trp)single nucleotide variantPathogenicrs77709286GRCh37Chr 10, 43609950: 43609950
15RETNM_020975.4(RET): c.2753T> C (p.Met918Thr)single nucleotide variantPathogenicrs74799832GRCh37Chr 10, 43617416: 43617416
16RETNM_020975.4(RET): c.1859G> T (p.Cys620Phe)single nucleotide variantPathogenicrs77503355GRCh37Chr 10, 43609103: 43609103
17RETNM_020975.4(RET): c.1852T> C (p.Cys618Arg)single nucleotide variantPathogenicrs76262710GRCh37Chr 10, 43609096: 43609096
18RETNM_020975.4(RET): c.2304G> C (p.Glu768Asp)single nucleotide variantPathogenicrs78014899GRCh37Chr 10, 43613840: 43613840
19RETNM_020975.4(RET): c.2370G> C (p.Leu790Phe)single nucleotide variantPathogenicrs75030001GRCh37Chr 10, 43613906: 43613906
20RETRET, 9-BP DUP, EX8duplicationPathogenic
21RETNM_020975.4(RET): c.1919C> G (p.Ala640Gly)single nucleotide variantPathogenicrs78935588GRCh37Chr 10, 43609967: 43609967
22RETNM_020975.4(RET): c.1859G> C (p.Cys620Ser)single nucleotide variantPathogenicrs77503355GRCh37Chr 10, 43609103: 43609103
23RETNM_020975.4(RET): c.1825T> C (p.Cys609Arg)single nucleotide variantPathogenicrs77558292GRCh37Chr 10, 43609069: 43609069
24RETNM_020975.4(RET): c.2410G> A (p.Val804Met)single nucleotide variantPathogenicrs79658334GRCh37Chr 10, 43614996: 43614996
25RETNM_020975.4(RET): c.2410G> T (p.Val804Leu)single nucleotide variantPathogenicrs79658334GRCh37Chr 10, 43614996: 43614996
26RETNM_020975.4(RET): c.1597G> T (p.Gly533Cys)single nucleotide variantPathogenicrs75873440GRCh37Chr 10, 43607621: 43607621
27RETNM_020975.4(RET): c.2671T> G (p.Ser891Ala)single nucleotide variantPathogenicrs75234356GRCh37Chr 10, 43615592: 43615592
28RETNM_020975.4(RET): c.874G> A (p.Val292Met)single nucleotide variantPathogenicrs34682185GRCh37Chr 10, 43601830: 43601830
29RETNM_020975.4(RET): c.1585_1593dupGAGGAGTGT (p.Cys531_Gly532insGluGluCys)duplicationPathogenicrs377767434GRCh37Chr 10, 43607609: 43607617
30RETNM_020975.4(RET): c.1825T> G (p.Cys609Gly)single nucleotide variantPathogenicrs77558292GRCh37Chr 10, 43609069: 43609069
31RETNM_020975.4(RET): c.1891_1893delGAC (p.Asp631del)deletionPathogenicrs377767435GRCh37Chr 10, 43609939: 43609941
32RETNM_020975.4(RET): c.1891G> T (p.Asp631Tyr)single nucleotide variantPathogenicrs377767406GRCh37Chr 10, 43609939: 43609939
33RETNM_020975.4(RET): c.1892_1903dupACGAGCTGTGCC (p.Cys634_Arg635insHisGluLeuCys)duplicationPathogenicrs377767436GRCh37Chr 10, 43609940: 43609951
34RETNM_020975.4(RET): c.1900_1908dupTGCCGCACG (p.Thr636_Val637insCysArgThr)duplicationPathogenicrs377767437GRCh37Chr 10, 43609948: 43609956
35RETNM_020975.4(RET): c.2711C> G (p.Ser904Cys)single nucleotide variantPathogenicrs267607011GRCh37Chr 10, 43615632: 43615632
36RETNM_020975.4(RET): c.2735G> C (p.Arg912Pro)single nucleotide variantPathogenicrs78347871GRCh37Chr 10, 43617398: 43617398
37RETNM_020975.4(RET): c.2080C> T (p.Arg694Trp)single nucleotide variantLikely pathogenicrs193922700GRCh37Chr 10, 43610128: 43610128
38NTRK1NM_001007792.1(NTRK1): c.1702C> T (p.His568Tyr)single nucleotide variantPathogenicrs6336GRCh37Chr 1, 156848918: 156848918
39RETNM_020975.4(RET): c.2410G> A (p.Val804Met)single nucleotide variantPathogenicrs79658334GRCh37Chr 10, 43614996: 43614996
40RETNM_020975.4(RET): c.1826G> C (p.Cys609Ser)single nucleotide variantPathogenicrs77939446GRCh37Chr 10, 43609070: 43609070
41RETNM_020975.4(RET): c.1901_1902delGCinsTG (p.Cys634Leu)indelPathogenicrs377767409GRCh37Chr 10, 43609949: 43609950
42RETNM_020975.4(RET): c.2647_2648delGCinsTT (p.Ala883Phe)indelPathogenicrs377767429GRCh37Chr 10, 43615568: 43615569

Expression for genes affiliated with Thyroid Medullary Carcinoma

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Expression patterns in normal tissues for genes affiliated with Thyroid Medullary Carcinoma

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

Pathways for genes affiliated with Thyroid Medullary Carcinoma

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Pathways related to Thyroid Medullary Carcinoma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8CRH, UCN
29.7JUN, RET, SST
39.5JUN, COPS5
49.4JUN, CALB1, CALCA
5
Show member pathways
9.3PTHLH, CRH, CALCA, CALCB
69.3CRH, CALCA, CALCB, PTHLH
78.6ENO2, CALB1, SYP, NTRK1, RET, MKI67
8
Show member pathways
8.3SST, NTS, CALCB, GRP, CRH, PTHLH
9
Show member pathways
7.7JUN, GRP, CRH, CALCA, CALCB, NTRK1

Compounds for genes affiliated with Thyroid Medullary Carcinoma

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Compounds related to Thyroid Medullary Carcinoma according to GeneCards/GeneDecks:

(show top 50)    (show all 187)
idCompoundScoreTop Affiliating Genes
1111in-pentetreotide449.7TG, SST, SYP, CALCA
2capsaicin44 2810.2NTRK1, CALCA, CRH, GRP, NTS
3catecholamine449.1NTS, RET, SYP, CRH, NTRK1, ENO2
4thyroxine44 2410.1SST, NTS, CALCA, TG, CRH, PTHLH
5atropine44 28 1111.1SST, NTS, CALCA, CRH, GRP
6prostaglandin f2alpha448.9CALCA, GRP, CRH, UCN, SST
7hydrocortisone44 2 61 1111.9SST, PTHLH, TG, CRH, GRP, CALCA
8silver448.7ENO2, CALB1, SYP, NTS, MKI67
9ionomycin448.7CALB1, SYP, PTHLH, NTS, JUN, GRP
10spec-t448.7ENO2, TG, SST, CALCA, CRH, GRP
11histamine44 28 2410.6UCN, CRH, SYP, GRP, NTS, SST
12tetrodotoxin44 61 2810.6ENO2, GRP, CRH, CALCA, CALB1, NTS
13potassium44 24 1110.4NTRK1, NTS, PTHLH, SYP, ENO2, CALB1
14genistein44 28 61 2 24 1113.4SST, RET, NTRK1, JUN, TG, GRP
15guanine44 24 1110.3ENO2, CALCA, SYP, NTS, TG, GRP
16isoproterenol44 119.2CRH, CRAT, CALCA, NTS, SST, PTHLH
17acth448.2ENO2, GRP, CRH, SST, NTS, CALCA
18gnrh448.2CRAT, NTRK1, NTS, SST, MKI67, CRH
195-hydroxytryptamine448.1ENO2, GRP, CRH, CALCA, CALB1, SYP
20dbc-amp448.1NTS, SYP, CRAT, PTHLH, ENO2
21ibmx44 61 2810.1CALCA, GRP, SST, ENO2, CRAT, PTHLH
22prostaglandin448.1NTS, CRAT, UCN, CRH, PTHLH, ENO2
23paraffin448.1ENO2, GRP, SYP, PTHLH, NTS, RET
24octreotide44 61 28 1110.9MKI67, PTHLH, TG, SST, NTS, CALCA
25pge2447.9CRAT, CALCA, NTS, PTHLH, GRP, JUN
26epinephrine44 24 119.9TG, NTS, SST, CALCA, CRAT, CRH
27steroid447.6CRH, CALB1, SYP, UCN, CRAT, MKI67
28gaba447.6CRAT, CALB1, SYP, NTS, SST, CRH
29cycloheximide447.5SST, GRP, PTHLH, MKI67, CRH, JUN
30thymidine44 248.5GRP, CRAT, NTS, JUN, TG, PTHLH
31choline44 24 119.5GRP, ENO2, CRAT, CALB1, RET, SST
32creatinine447.4PTHLH, TG, NTRK1, SYP, CALCA, CRAT
33lactate447.4TG, CRAT, SST, ENO2, GRP, MKI67
34arginine447.3GRP, CRAT, CRH, UCN, MKI67, TG
35cyclic amp44 248.2GRP, PTHLH, JUN, RET, NTS, NTRK1
36nitric oxide44 24 119.2NTS, MKI67, PTHLH, ENO2, CRAT, SYP
37tyrosine447.2NTS, GRP, CALB1, SYP, NTRK1, MKI67
38adenylate446.9UCN, CRAT, CRH, GRP, CALCA, NTRK1
39glutamate446.8TG, SST, NTS, NTRK1, SYP, CALB1
40forskolin44 50 118.7PTHLH, JUN, NTS, SYP, CALB1, CALCA
41vegf446.7ENO2, GRP, CRAT, CALCA, SYP, NTRK1
42dexamethasone44 50 28 119.6PTHLH, SST, JUN, NTS, SYP, CALB1
43dopamine44 28 24 119.6CALB1, CALCA, UCN, CRAT, CRH, GRP
44serine446.5MKI67, CRAT, NTRK1, NTS, SYP, CRH
45retinoic acid44 247.5JUN, MKI67, PTHLH, ENO2, GRP, CRAT
46calcium44 50 24 119.4MKI67, ENO2, GRP, CRAT, UCN, CALCA
47norepinephrine44 24 118.4PTHLH, TG, SST, NTS, SYP, CALB1
48acetylcholine44 50 28 24 1110.2UCN, CRAT, CRH, GRP, ENO2, CALCA
49testosterone44 61 24 119.0SST, RET, TG, PTHLH, MKI67, NTS
50estrogen446.0ENO2, MKI67, SYP, GRP, CRH, TG

GO Terms for genes affiliated with Thyroid Medullary Carcinoma

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Cellular components related to Thyroid Medullary Carcinoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1varicosityGO:0431969.5CRH, UCN
2neuronal cell bodyGO:0430259.3NTRK1, CALB1, CALCA, SST
3perikaryonGO:0432049.2CRH, ENO2, UCN
4extracellular spaceGO:0056158.0PTHLH, TG, SST, CALCA, CRH, GRP
5extracellular regionGO:0055767.6GRP, PTHLH, TG, SST, NTS, CALCB

Biological processes related to Thyroid Medullary Carcinoma according to GeneCards/GeneDecks:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1detection of temperature stimulus involved in sensory perception of painGO:05096510.2NTRK1, CALCA
2hormone-mediated apoptotic signaling pathwayGO:00862810.2SST, CRH
3positive regulation of behavioral fear responseGO:200098710.1CRH, UCN
4positive regulation of corticotropin secretionGO:05146110.1UCN, CRH
5positive regulation of calcium ion importGO:09028010.0CRH, UCN
6response to radiationGO:0093149.9NTRK1, JUN
7negative regulation of blood pressureGO:0457769.9CALCA, UCN, CRH
8learning or memoryGO:0076119.8CRH, CALB1, NTRK1
9agingGO:0075689.8JUN, NTRK1, CALCA
10female pregnancyGO:0075659.8CRH, UCN, PTHLH
11cellular response to organic substanceGO:0713109.8SYP, CALB1
12associative learningGO:0083069.7CRH, UCN
13response to painGO:0482659.7CRH, UCN, CALCA, RET
14positive regulation of cAMP biosynthetic processGO:0308199.6PTHLH, CALCA, UCN, CRH
15neuropeptide signaling pathwayGO:0072189.5GRP, UCN, CALCA
16response to drugGO:0424939.5CRH, NTRK1, SST, RET, JUN
17negative regulation of cell proliferationGO:0082859.5NTRK1, SST, JUN, PTHLH
18cytosolic calcium ion homeostasisGO:0514809.5CALCA, CALB1
19signal transductionGO:0071658.8TG, RET, NTS, CALCB, CRH, GRP

Molecular functions related to Thyroid Medullary Carcinoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1corticotropin-releasing hormone receptor 1 bindingGO:0514309.8CRH, UCN
2corticotropin-releasing hormone receptor 2 bindingGO:0514319.7CRH, UCN
3hormone activityGO:0051799.2PTHLH, TG, SST, CALCA, CRH
4neuropeptide hormone activityGO:0051848.8NTS, CALCB, UCN, CRH, GRP
5receptor bindingGO:0051028.3GRP, CRH, CRAT, CALCA
6protein bindingGO:0055157.2UCN, MKI67, JUN, RET, NTS, NTRK1

Products for genes affiliated with Thyroid Medullary Carcinoma

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  • Antibodies
  • Proteins
  • Lysates

Sources for Thyroid Medullary Carcinoma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet