MTC
MCID: THY014
MIFTS: 73

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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Sources:
65Wikipedia, 47OMIM, 33MalaCards
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Fully expand this MalaCard
Wikipedia:65 Medullary thyroid cancer (MTC) is a form of thyroid carcinoma which originates from the parafollicular... more...

MalaCards: Thyroid Medullary Carcinoma, also known as medullary thyroid carcinoma, is related to familial medullary thyroid carcinoma and cushing's syndrome, and has symptoms including obnubilation/coma/lethargia/desorientation, paresthesia/dysesthesia/hypoesthesia/anesthesia/numbness and hypotonia. 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.

Description from OMIM:47 155240,162300,171400

Aliases & Classifications for Thyroid Medullary Carcinoma

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Sources:
49Orphanet, 62UMLS, 8Disease Ontology, 10DISEASES, 9diseasecard, 47OMIM, 43NIH Rare Diseases, 22GTR, 45Novoseek, 58SNOMED-CT, 35MeSH, 40NCIt, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 36MESH via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
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


Aliases & Descriptions:

thyroid medullary carcinoma 8 10
medullary thyroid carcinoma 8 9 47 49
thyroid carcinoma, medullary 43 22
medullary carcinoma of the thyroid gland 8
thyroid carcinoma, familial medullary 62
familial medullary thyroid carcinoma 49
multiple endocrine neoplasia type 2a 62
multiple endocrine neoplasia type 2 49
ultimobranchial thyroid tumour 8
medullary carcinoma of thyroid 62
ultimobranchial thyroid tumor 8
malignant neoplasm of thyroid 62
thyroid carcinoma medullary 45
thyroid cancer, medullary 43
medullary thyroid cancer 43
familial mtc 49
men2 49
mtc 49


External Ids:

Disease Ontology8 DOID:3973
MeSH35 C536914
NCIt40 C3879
ICD10 via Orphanet26 D44.8, C73
SNOMED-CT via Orphanet59 61808009, 255032005
MESH via Orphanet36 C536914, C536911
UMLS via Orphanet63 C0238462, C1833921

Related Diseases for Thyroid Medullary Carcinoma

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Sources:
17GeneCards, 18GeneDecks
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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 carcinoma32.0RET, CALCA
2cushing's syndrome30.9CRH, SST
3hirschsprung's disease30.9NTRK1, RET, SYP
4goiter30.7RET, TG, CALCA
5neuroendocrine tumor30.7CALCA, SST
6phaeochromocytoma30.7CALCA, RET
7nodular goiter30.6TG, RET, CALCA
8multiple endocrine neoplasia30.6RET, CALCA, TG
9neuroma30.6CALCA, RET
10papillary thyroid carcinoma30.5RET, NTRK1, TG
11thyroid cancer30.5TG, RET, NTRK1, CALCA
12neurofibromatosis30.5ENO2, SST, RET
13parathyroid adenoma30.4PTHLH, RET, CALCA
14ganglioneuroma30.4RET, NTRK1, SYP, ENO2
15paraganglioma30.4TG, ENO2, SST, GRP, SYP, CALCA
16somatostatinoma30.4CALCA, SST
17leukemia30.3CRAT, NTRK1, NTS, JUN, GRP
18multiple endocrine neoplasia type 2a30.3CALCA, RET
19hyperparathyroidism30.3PTHLH, CALCA, RET
20neuroblastoma30.3NTS, SYP, ENO2, NTRK1
21pheochromocytoma30.3NTRK1, JUN, RET, SST, NTS, SYP
22hyperthyroidism30.3NTS, SST, TG
23neuroendocrine carcinoma30.3SST, SYP, CALCA, ENO2, GRP
24primary hyperparathyroidism30.2PTHLH, RET, CALCA
25adrenocortical carcinoma30.2MKI67, SYP, CRAT, CRH
26papillary carcinoma30.0NTRK1, SYP, RET, TG, MKI67, CALCA
27adenoma29.9MKI67, TG, RET, SST, NTS, NTRK1
28adenocarcinoma29.7GRP, COPS5, SYP, NTRK1, SST, NTS
29thyroiditis11.0
30somatostatin analog10.6
31von hippel-lindau disease10.5
32amyloidosis10.5
33ntrk1-related familial medullary thyroid carcinoma10.4
34lichen amyloidosis10.4
35renal agenesis10.3
36cervicitis10.3
37herpes simplex10.3
38endotheliitis10.3
39mantle cell lymphoma10.3
40megacolon10.3
41multiple mucosal neuroma10.2
42nevoid basal cell carcinoma syndrome10.2
43bronchitis10.2
44duodenitis10.2
45wagenmann-froboese syndrome10.2
46osteopetrosis10.2
47sipple syndrome10.2
48endemic goiter10.2
49basal cell carcinoma10.2
50cholestasis10.2

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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Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

155240,162300,171400

Symptoms:

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

Drugs & Therapeutics for Thyroid Medullary Carcinoma

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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22GTR
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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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33MalaCards
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MalaCards organs/tissues related to Thyroid Medullary Carcinoma:

33
Thyroid, Bone, Skin, Tongue, Brain, Colon, Kidney, Thymus

Animal Models for Thyroid Medullary Carcinoma or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Thyroid Medullary Carcinoma:

37
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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52PubMed
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Articles related to Thyroid Medullary Carcinoma:

(show all 45)
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
Expression of Jun activation domain-binding protein 1 and p27 (Kip1) in thyroid medullary carcinoma. (16175894)
2005
5
Multiple endocrine neoplasias type 2A and thyroid medullary carcinoma: an interdisciplinary challenge. (12721726)
2003
6
The effect of calcitriol and its analogues on proliferation and hormone expression in cultured cells of thyroid medullary carcinomas. (14655142)
2003
7
Long-term survivor without recurrence after resection of simultaneous solitary pancreatic metastasis from thyroid medullary carcinoma. (14571817)
2003
8
Effect of octreotide on proliferation of in vitro cultured thyroid medullary carcinoma cells. (11374817)
2001
9
Prophylactic thyroidectomy in the treatment of thyroid medullary carcinoma. Age for surgery? (11194546)
2000
10
Studies on cultured cells of thyroid medullary carcinoma with the use of immunocytochemical techniques. (10352959)
1999
11
Presence of atrial natriuretic peptide in rat thyroid medullary carcinoma cell line. (9831383)
1998
12
Characterisation of thyroid medullary carcinoma TT cell line. (9046062)
1997
13
Thyroid medullary carcinoma occurring laterally in the neck. (9062519)
1997
14
Immunocytochemical localization of hormones and functional proteins in cultured cells of thyroid medullary carcinoma. (8878649)
1996
15
The effect of steroids and their complexes with cyclodextrins on secretory activity of cultured thyroid medullary carcinoma cells. (8878650)
1996
16
Immunocytochemical characterization of two thyroid medullary carcinoma cell lines in vitro. (8787964)
1995
17
Glucocorticoids inhibit somatostatin gene expression through accelerated degradation of somatostatin messenger ribonucleic acid in human thyroid medullary carcinoma (TT) cells. (7750460)
1995
18
Detection of cervical metastases of thyroid medullary carcinoma by MoAb anti-CEA scintigraphy and immunohistochemistry. (7588944)
1995
19
Thyroid medullary carcinoma with thyroglobulin immunoreactivity in sporadic multiple endocrine neoplasia type 2-B. (7913660)
1994
20
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
21
Calcitonin, calcitonin gene-related peptide, and gastrin-releasing peptide in familial thyroid medullary carcinoma. (2300897)
1990
22
The ret proto-oncogene is consistently expressed in human pheochromocytomas and thyroid medullary carcinomas. (1701232)
1990
23
Coexistence of somatostatin-immunoreactivity in an adrenal pheochromocytoma and a thyroid medullary carcinoma (Sipple syndrome). (2900771)
1988
24
Thyroid medullary carcinoma of the Djungarian hamster Phodopus sungorus. Ultrastructural evidence for the production of normal and atypical intracellular granules. (2895541)
1988
25
Abnormal expression of the MOS proto-oncogene in human thyroid medullary carcinoma. (2974318)
1988
26
Morphological changes of human thyroid medullary carcinoma cell line treated with calcium channel antagonist nifedipine. (3253470)
1988
27
Establishment of a new human thyroid medullary carcinoma cell line. Morphological studies. (2891216)
1987
28
Characterization of opioid peptides in human thyroid medullary carcinoma. (3828959)
1987
29
Occurrence of calcitonin, somatostatin-like immunoreactivity, and carcinoembryonic antigen in two sisters suffering from familial thyroid medullary carcinoma. (2881797)
1986
30
Neuroendocrine carcinomas of the larynx. A study of two types, one of which mimics thyroid medullary carcinoma. (2866724)
1985
31
Fine structure of crystalloid inclusions in the nucleus of thyroid medullary carcinoma cells. (3014031)
1985
32
Cutaneous metastasis of a radiation-associated thyroid medullary carcinoma. (6397504)
1984
33
Calcitonin, somatostatin and ACTH immunoreactive cells in a case of familial bilateral thyroid medullary carcinoma. (6126268)
1982
34
The ultrastructure of the thyroid medullary carcinoma. (6460172)
1981
35
Ultrastructural morphometry of the secretory granules in thyroid medullary carcinoma. (7433865)
1980
36
Multiple endocrine cell types in thyroid medullary carcinoma. Evidence for calcitonin, somatostatin, ACTH, 5HT and small granule cells. (205037)
1978
37
Ultrastructural study of thyroid medullary carcinoma. (201148)
1977
38
Bradshaw lecture, 1976. Thyroid medullary carcinoma. (20027)
1977
39
Isolation of calcitonin from rat thyroid medullary carcinoma. (1278428)
1976
40
Diarrhoeae in thyroid medullary carcinoma: role of prostaglandins and therapeutic effect of nutmeg. (1169097)
1975
41
The formation of thyroglobulin in human thyroid medullary carcinoma. (4800833)
1973
42
Histologic and ultracytochemical studies on thyroid medullary carcinoma. Diagnostic significance of argyrophil secretory granules. (4116425)
1972
43
Reversible suppression of alkaline phosphatase in human thyroid medullary carcinoma cells transformed by SV40. (4333786)
1972
44
Thyroid medullary carcinoma and absent histamine flare. (5060501)
1972
45
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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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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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:

1 (show all 38)
id Gene Name Type Significance SNP ID Assembly Location
1NTRK1NM_001007792.1(NTRK1): c.1730G> T (p.Gly577Val)single nucleotide variantBenign, Pathogenicrs6339GRCh37Chr 1, 156848946: 156848946
2NTRK1NM_001007792.1(NTRK1): c.1730G> T (p.Gly577Val)single nucleotide variantBenign, Pathogenicrs6339GRCh37Chr 1, 156848946: 156848946
3RETNM_020975.4(RET): c.1852T> G (p.Cys618Gly)single nucleotide variantPathogenicrs76262710GRCh37Chr 10, 43609096: 43609096
4RETNM_020975.4(RET): c.1900T> C (p.Cys634Arg)single nucleotide variantPathogenicrs75076352GRCh37Chr 10, 43609948: 43609948
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.1859G> T (p.Cys620Phe)single nucleotide variantPathogenicrs77503355GRCh37Chr 10, 43609103: 43609103
16RETNM_020975.4(RET): c.1852T> C (p.Cys618Arg)single nucleotide variantPathogenicrs76262710GRCh37Chr 10, 43609096: 43609096
17RETNM_020975.4(RET): c.2304G> C (p.Glu768Asp)single nucleotide variantPathogenicrs78014899GRCh37Chr 10, 43613840: 43613840
18RETNM_020975.4(RET): c.2370G> C (p.Leu790Phe)single nucleotide variantPathogenicrs75030001GRCh37Chr 10, 43613906: 43613906
19RETNM_020975.4(RET): c.2372A> T (p.Tyr791Phe)single nucleotide variantBenign, Likely benign, Pathogenicrs77724903GRCh37Chr 10, 43613908: 43613908
20RETRET, 9-BP DUP, EX8duplicationPathogenic
21RETNM_020975.4(RET): c.1919C> G (p.Ala640Gly)single nucleotide variantPathogenic, Uncertain significancers78935588GRCh37Chr 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> T (p.Val804Leu)single nucleotide variantPathogenicrs79658334GRCh37Chr 10, 43614996: 43614996
25RETNM_020975.4(RET): c.1942G> A (p.Val648Ile)single nucleotide variantLikely benign, Pathogenic, Uncertain significancers77711105GRCh37Chr 10, 43609990: 43609990
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 variantPathogenic, Uncertain significancers34682185GRCh37Chr 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.2735G> C (p.Arg912Pro)single nucleotide variantPathogenicrs78347871GRCh37Chr 10, 43617398: 43617398
36NTRK1NM_001007792.1(NTRK1): c.1702C> T (p.His568Tyr)single nucleotide variantBenign, Pathogenicrs6336GRCh37Chr 1, 156848918: 156848918
37RETNM_020975.4(RET): c.1826G> C (p.Cys609Ser)single nucleotide variantPathogenicrs77939446GRCh37Chr 10, 43609070: 43609070
38RETNM_020975.4(RET): c.1901_1902delGCinsTG (p.Cys634Leu)indelPathogenicrs377767409GRCh37Chr 10, 43609949: 43609950

Expression for genes affiliated with Thyroid Medullary Carcinoma

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2BioGPS, 15Gene Expression Omnibus DataSets
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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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Sources:
50PathCards, 51PharmGKB, 38NCBI BioSystems Database, 53QIAGEN, 60Thomson Reuters, 55Reactome, 5Cell Signaling Technology, 30KEGG
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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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Sources:
45Novoseek, 29IUPHAR, 24HMDB, 11DrugBank, 3BitterDB, 61Tocris Bioscience, 51PharmGKB
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Compounds related to Thyroid Medullary Carcinoma according to GeneCards/GeneDecks:

(show top 50)    (show all 187)
idCompoundScoreTop Affiliating Genes
1111in-pentetreotide459.7TG, SST, SYP, CALCA
2capsaicin45 2910.2NTRK1, CALCA, CRH, GRP, NTS
3catecholamine459.1NTS, RET, SYP, CRH, NTRK1, ENO2
4thyroxine45 2410.1SST, NTS, CALCA, TG, CRH, PTHLH
5atropine45 29 1111.1SST, NTS, CALCA, CRH, GRP
6prostaglandin f2alpha458.9CALCA, GRP, CRH, UCN, SST
7hydrocortisone45 3 61 1111.9SST, PTHLH, TG, CRH, GRP, CALCA
8silver458.7ENO2, CALB1, SYP, NTS, MKI67
9ionomycin458.7CALB1, SYP, PTHLH, NTS, JUN, GRP
10spec-t458.7ENO2, TG, SST, CALCA, CRH, GRP
11histamine45 29 2410.6UCN, CRH, SYP, GRP, NTS, SST
12tetrodotoxin45 61 2910.6ENO2, GRP, CRH, CALCA, CALB1, NTS
13potassium45 24 1110.4NTRK1, NTS, PTHLH, SYP, ENO2, CALB1
14genistein45 29 61 3 24 1113.4SST, RET, NTRK1, JUN, TG, GRP
15guanine45 24 1110.3ENO2, CALCA, SYP, NTS, TG, GRP
16isoproterenol45 119.2CRH, CRAT, CALCA, NTS, SST, PTHLH
17acth458.2ENO2, GRP, CRH, SST, NTS, CALCA
18gnrh458.2CRAT, NTRK1, NTS, SST, MKI67, CRH
195-hydroxytryptamine458.1ENO2, GRP, CRH, CALCA, CALB1, SYP
20dbc-amp458.1NTS, SYP, CRAT, PTHLH, ENO2
21ibmx45 61 2910.1CALCA, GRP, SST, ENO2, CRAT, PTHLH
22prostaglandin458.1NTS, CRAT, UCN, CRH, PTHLH, ENO2
23paraffin458.1ENO2, GRP, SYP, PTHLH, NTS, RET
24octreotide45 61 29 1110.9MKI67, PTHLH, TG, SST, NTS, CALCA
25pge2457.9CRAT, CALCA, NTS, PTHLH, GRP, JUN
26epinephrine45 24 119.9TG, NTS, SST, CALCA, CRAT, CRH
27steroid457.6CRH, CALB1, SYP, UCN, CRAT, MKI67
28gaba457.6CRAT, CALB1, SYP, NTS, SST, CRH
29cycloheximide457.5SST, GRP, PTHLH, MKI67, CRH, JUN
30thymidine45 248.5GRP, CRAT, NTS, JUN, TG, PTHLH
31choline45 24 119.5GRP, ENO2, CRAT, CALB1, RET, SST
32creatinine457.4PTHLH, TG, NTRK1, SYP, CALCA, CRAT
33lactate457.4TG, CRAT, SST, ENO2, GRP, MKI67
34arginine457.3GRP, CRAT, CRH, UCN, MKI67, TG
35cyclic amp45 248.2GRP, PTHLH, JUN, RET, NTS, NTRK1
36nitric oxide45 24 119.2NTS, MKI67, PTHLH, ENO2, CRAT, SYP
37tyrosine457.2NTS, GRP, CALB1, SYP, NTRK1, MKI67
38adenylate456.9UCN, CRAT, CRH, GRP, CALCA, NTRK1
39glutamate456.8TG, SST, NTS, NTRK1, SYP, CALB1
40forskolin45 51 118.7PTHLH, JUN, NTS, SYP, CALB1, CALCA
41vegf456.7ENO2, GRP, CRAT, CALCA, SYP, NTRK1
42dexamethasone45 51 29 119.6PTHLH, SST, JUN, NTS, SYP, CALB1
43dopamine45 29 24 119.6CALB1, CALCA, UCN, CRAT, CRH, GRP
44serine456.5MKI67, CRAT, NTRK1, NTS, SYP, CRH
45retinoic acid45 247.5JUN, MKI67, PTHLH, ENO2, GRP, CRAT
46calcium45 51 24 119.4MKI67, ENO2, GRP, CRAT, UCN, CALCA
47norepinephrine45 24 118.4PTHLH, TG, SST, NTS, SYP, CALB1
48acetylcholine45 51 29 24 1110.2UCN, CRAT, CRH, GRP, ENO2, CALCA
49testosterone45 61 24 119.0SST, RET, TG, PTHLH, MKI67, NTS
50estrogen456.0ENO2, MKI67, SYP, GRP, CRH, TG

GO Terms for genes affiliated with Thyroid Medullary Carcinoma

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Sources:
16Gene Ontology
See all sources

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:0051848.8GRP, CRH, UCN, CALCB, NTS
5receptor bindingGO:0051028.3CALCA, CRAT, CRH, GRP
6protein bindingGO:0055157.2JUN, RET, NTS, NTRK1, COPS5, CALB1

Products for genes affiliated with Thyroid Medullary Carcinoma

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Thyroid Medullary Carcinoma

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet