MCID: THY096
MIFTS: 27

Thyroid Carcinoma, Hurthle Cell

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

Aliases & Classifications for Thyroid Carcinoma, Hurthle Cell

MalaCards integrated aliases for Thyroid Carcinoma, Hurthle Cell:

Name: Thyroid Carcinoma, Hurthle Cell 57 53 13 55
Hurthle Cell Carcinoma of Thyroid 29 6 40
Thyroid Hurthle Cell Carcinoma 12 15 73
Hurthle Cell Thyroid Neoplasia 57 75
Thyroid Cancer, Hurthle Cell 53 44
Thyroid Cancer, Follicular, Hurthle Cell Type 53
Follicular Thyroid Cancer, Hurthle Cell Type 53
Hurthle Cell Carcinoma of the Thyroid 53
Oncocytic Carcinoma of the Thyroid 12
Hurthle Cell Thyroid Carcinoma 75
Hurthle Cell Thyroid Cancer 53
Adenocarcinoma, Oxyphilic 73
Hurthle Cell Carcinoma 75
Hctc 75

Classifications:



External Ids:

OMIM 57 607464
Disease Ontology 12 DOID:8161
NCIt 50 C4946
SNOMED-CT 68 423158009
MedGen 42 C0749424

Summaries for Thyroid Carcinoma, Hurthle Cell

OMIM : 57 Hurthle cell carcinoma of the thyroid accounts for approximately 3% of all thyroid cancers. Although they are classified as variants of follicular neoplasms, they are more often multifocal and somewhat more aggressive and are less likely to take up iodine than are other follicular neoplasms (Sanders and Silverman, 1998). Hurthle cell tumors, also known as oxyphil cell tumors, are composed of cells with increased numbers of mitochondria, which corresponds morphologically to their voluminous, granular, eosinophilic cytoplasm (Maximo et al., 2005). (607464)

MalaCards based summary : Thyroid Carcinoma, Hurthle Cell, also known as hurthle cell carcinoma of thyroid, is related to esophagitis and liposarcoma. An important gene associated with Thyroid Carcinoma, Hurthle Cell is NDUFA13 (NADH:Ubiquinone Oxidoreductase Subunit A13). The drugs Iodine and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include thyroid.

UniProtKB/Swiss-Prot : 75 Hurthle cell thyroid carcinoma: A rare type of thyroid cancer accounting for only about 3-10% of all differentiated thyroid cancers. These neoplasms are considered a variant of follicular carcinoma of the thyroid and are referred to as follicular carcinoma, oxyphilic type.

Related Diseases for Thyroid Carcinoma, Hurthle Cell

Diseases related to Thyroid Carcinoma, Hurthle Cell via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 esophagitis 10.0
2 liposarcoma 10.0
3 thyroiditis 10.0
4 thyroid cancer 10.0
5 differentiated thyroid carcinoma 9.0 NDUFA13 TG

Graphical network of the top 20 diseases related to Thyroid Carcinoma, Hurthle Cell:



Diseases related to Thyroid Carcinoma, Hurthle Cell

Symptoms & Phenotypes for Thyroid Carcinoma, Hurthle Cell

Clinical features from OMIM:

607464

Drugs & Therapeutics for Thyroid Carcinoma, Hurthle Cell

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

(show all 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iodine Approved, Investigational Phase 2, Phase 3 7553-56-2 807
2 Anti-Infective Agents Phase 2, Phase 3
3 Anti-Infective Agents, Local Phase 2, Phase 3
4 cadexomer iodine Phase 2, Phase 3
5 Micronutrients Phase 2, Phase 3
6 Trace Elements Phase 2, Phase 3
7
Everolimus Approved Phase 2 159351-69-6 6442177
8
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
9
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
10
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
11
Lenvatinib Approved, Investigational Phase 2 417716-92-8
12
Pembrolizumab Approved Phase 2 1374853-91-4
13
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
14
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
15
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
16
Nicotinamide Approved, Investigational, Nutraceutical Phase 2 98-92-0 936
17 Anti-Bacterial Agents Phase 2
18 Antibiotics, Antitubercular Phase 2
19 Antifungal Agents Phase 2
20 Immunosuppressive Agents Phase 2
21 Nicotinic Acids Phase 2
22 Protein Kinase Inhibitors Phase 2
23 Vitamin B Complex Phase 2
24 Vitamins Phase 2
25 Angiogenesis Inhibitors Phase 2
26 Angiogenesis Modulating Agents Phase 2
27 Folate Nutraceutical Phase 2
28 Vitamin B3 Nutraceutical Phase 2
29 Vitamin B9 Nutraceutical Phase 2
30
Rosiglitazone Approved, Investigational Phase 1 122320-73-4 77999
31 Hypoglycemic Agents Phase 1
32 Hormone Antagonists
33 Hormones
34 Hormones, Hormone Substitutes, and Hormone Antagonists

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 IoN- Is Ablative Radio-iodine Necessary for Low Risk Differentiated Thyroid Cancer Patients Recruiting NCT01398085 Phase 2, Phase 3
2 Cabozantinib-S-Malate in Treating Patients With Refractory Thyroid Cancer Completed NCT01811212 Phase 2 Cabozantinib S-malate
3 A Phase 2, Open-label Study of AMG 706 to Treat Subjects With Locally Advanced or Metastatic Thyroid Cancer Completed NCT00121628 Phase 2 AMG 706
4 Sorafenib Tosylate With or Without Everolimus in Treating Patients With Advanced, Radioactive Iodine Refractory Hurthle Cell Thyroid Cancer Recruiting NCT02143726 Phase 2 sorafenib;everolimus
5 Lenvatinib and Pembrolizumab in DTC Recruiting NCT02973997 Phase 2 Lenvatinib
6 Sunitinib in Treating Patients With Thyroid Cancer That Did Not Respond to Iodine I 131 and Cannot Be Removed by Surgery Active, not recruiting NCT00381641 Phase 2 Sunitinib Malate
7 A Drug-Drug Interaction Study of the Effects of XL184 (Cabozantinib) on Rosiglitazone in Subjects With Solid Tumors Completed NCT01100619 Phase 1 rosiglitazone;XL184
8 Metabolic Effects of Synthetic Thyroid Hormone for Thyroid Cancer Treatment Completed NCT01441154
9 Studies on Tumors of the Thyroid Recruiting NCT00001160

Search NIH Clinical Center for Thyroid Carcinoma, Hurthle Cell

Cochrane evidence based reviews: thyroid cancer, hurthle cell

Genetic Tests for Thyroid Carcinoma, Hurthle Cell

Genetic tests related to Thyroid Carcinoma, Hurthle Cell:

# Genetic test Affiliating Genes
1 Hurthle Cell Carcinoma of Thyroid 29 NDUFA13

Anatomical Context for Thyroid Carcinoma, Hurthle Cell

MalaCards organs/tissues related to Thyroid Carcinoma, Hurthle Cell:

41
Thyroid

Publications for Thyroid Carcinoma, Hurthle Cell

Articles related to Thyroid Carcinoma, Hurthle Cell:

# Title Authors Year
1
Diffuse toxic goiter and coexisting hurthle cell carcinoma of thyroid presenting as lower limb weakness from mononeuritis multiplex. ( 27728172 )
2016

Variations for Thyroid Carcinoma, Hurthle Cell

ClinVar genetic disease variations for Thyroid Carcinoma, Hurthle Cell:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NDUFA13 NM_015965.6(NDUFA13): c.15G> C (p.Lys5Asn) single nucleotide variant Pathogenic rs137852869 GRCh37 Chromosome 19, 19627062: 19627062
2 NDUFA13 NM_015965.6(NDUFA13): c.15G> C (p.Lys5Asn) single nucleotide variant Pathogenic rs137852869 GRCh38 Chromosome 19, 19516253: 19516253

Cosmic variations for Thyroid Carcinoma, Hurthle Cell:

9
(show top 50) (show all 78)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM26489 TSHR thyroid,NS,carcinoma,Hurthle cell carcinoma c.2029C>G p.L677V 14:81144087-81144087 35
2 COSM14191 SMAD4 thyroid,NS,carcinoma,Hurthle cell carcinoma c.1016T>C p.F339S 18:51065483-51065483 35
3 COSM14190 SMAD4 thyroid,NS,carcinoma,Hurthle cell carcinoma c.992T>C p.M331T 18:51065459-51065459 35
4 COSM580 NRAS thyroid,NS,carcinoma,Hurthle cell carcinoma c.181C>A p.Q61K 1:114713909-114713909 35
5 COSM96531 IDH1 thyroid,NS,carcinoma,Hurthle cell carcinoma c.209G>A p.G70D 2:208248574-208248574 35
6 COSM483 HRAS thyroid,NS,carcinoma,Hurthle cell carcinoma c.35G>T p.G12V 11:534288-534288 35
7 COSM476 BRAF thyroid,NS,carcinoma,Hurthle cell carcinoma c.1799T>A p.V600E 7:140753336-140753336 35
8 COSM33765 AKT1 thyroid,NS,carcinoma,Hurthle cell carcinoma c.49G>A p.E17K 14:104780214-104780214 35
9 COSM26419 TSHR thyroid,NS,carcinoma,follicular carcinoma c.1897G>T p.D633Y 14:81143955-81143955 31
10 COSM26455 TSHR thyroid,NS,carcinoma,follicular carcinoma c.1891T>A p.F631I 14:81143949-81143949 31
11 COSM26485 TSHR thyroid,NS,carcinoma,follicular carcinoma c.1894A>G p.T632A 14:81143952-81143952 31
12 COSM26449 TSHR thyroid,NS,carcinoma,follicular carcinoma c.1358T>C p.M453T 14:81143416-81143416 31
13 COSM26418 TSHR thyroid,NS,carcinoma,follicular carcinoma c.1895C>T p.T632I 14:81143953-81143953 31
14 COSM26450 TSHR thyroid,NS,carcinoma,follicular carcinoma c.1456A>T p.I486F 14:81143514-81143514 31
15 COSM26416 TSHR thyroid,NS,carcinoma,follicular carcinoma c.1867G>T p.A623S 14:81143925-81143925 31
16 COSM10656 TP53 thyroid,NS,carcinoma,follicular carcinoma c.742C>T p.R248W 17:7674221-7674221 31
17 COSM43624 TP53 thyroid,NS,carcinoma,follicular carcinoma c.875A>G p.K292R 17:7673745-7673745 31
18 COSM6943090 STAG2 thyroid,NS,carcinoma,follicular carcinoma c.1100T>G p.F367C 23:124051203-124051203 31
19 COSM5546625 SMAD4 thyroid,NS,carcinoma,follicular carcinoma c.767A>T p.Q256L 18:51058224-51058224 31
20 COSM5880107 SMAD4 thyroid,NS,carcinoma,follicular carcinoma c.1060G>C p.V354L 18:51065527-51065527 31
21 COSM1570338 RET thyroid,NS,carcinoma,follicular carcinoma c.2651A>T p.E884V 10:43120124-43120124 31
22 COSM5546623 RB1 thyroid,NS,carcinoma,follicular carcinoma c.2039T>C p.I680T 13:48459766-48459766 31
23 COSM23654 PTEN thyroid,NS,carcinoma,follicular carcinoma c.701G>A p.R234Q 10:87957919-87957919 31
24 COSM23650 PTEN thyroid,NS,carcinoma,follicular carcinoma c.728T>C p.F243S 10:87957946-87957946 31
25 COSM5224 PTEN thyroid,NS,carcinoma,follicular carcinoma c.370T>A p.C124S 10:87933129-87933129 31
26 COSM23652 PTEN thyroid,NS,carcinoma,follicular carcinoma c.496G>A p.V166I 10:87952121-87952121 31
27 COSM5033 PTEN thyroid,NS,carcinoma,follicular carcinoma c.389G>A p.R130Q 10:87933148-87933148 31
28 COSM5034 PTEN thyroid,NS,carcinoma,follicular carcinoma c.425G>A p.R142Q 10:87933184-87933184 31
29 COSM23653 PTEN thyroid,NS,carcinoma,follicular carcinoma c.476G>A p.R159K 10:87933235-87933235 31
30 COSM23651 PTEN thyroid,NS,carcinoma,follicular carcinoma c.353A>G p.H118R 10:87933112-87933112 31
31 COSM760 PIK3CA thyroid,NS,carcinoma,follicular carcinoma c.1624G>A p.E542K 3:179218294-179218294 31
32 COSM29096 PIK3CA thyroid,NS,carcinoma,follicular carcinoma c.1558G>A p.D520N 3:179218228-179218228 31
33 COSM28544 PIK3CA thyroid,NS,carcinoma,follicular carcinoma c.3026G>A p.G1009E 3:179234183-179234183 31
34 COSM33601 PIK3CA thyroid,NS,carcinoma,follicular carcinoma c.3155C>T p.T1052I 3:179234312-179234312 31
35 COSM33599 PIK3CA thyroid,NS,carcinoma,follicular carcinoma c.3052G>A p.D1018N 3:179234209-179234209 31
36 COSM33598 PIK3CA thyroid,NS,carcinoma,follicular carcinoma c.3002T>A p.L1001H 3:179234159-179234159 31
37 COSM33600 PIK3CA thyroid,NS,carcinoma,follicular carcinoma c.3046T>C p.F1016L 3:179234203-179234203 31
38 COSM12458 PIK3CA thyroid,NS,carcinoma,follicular carcinoma c.1634A>C p.E545A 3:179218304-179218304 31
39 COSM29095 PIK3CA thyroid,NS,carcinoma,follicular carcinoma c.3001C>A p.L1001I 3:179234158-179234158 31
40 COSM775 PIK3CA thyroid,NS,carcinoma,follicular carcinoma c.3140A>G p.H1047R 3:179234297-179234297 31
41 COSM29097 PIK3CA thyroid,NS,carcinoma,follicular carcinoma c.1649T>C p.F550S 3:179218319-179218319 31
42 COSM28547 PIK3CA thyroid,NS,carcinoma,follicular carcinoma c.3180C>T p.H1060H 3:179234337-179234337 31
43 COSM17446 PIK3CA thyroid,NS,carcinoma,follicular carcinoma c.3149G>A p.G1050D 3:179234306-179234306 31
44 COSM584 NRAS thyroid,NS,carcinoma,follicular carcinoma c.182A>G p.Q61R 1:114713908-114713908 31
45 COSM564 NRAS thyroid,NS,carcinoma,follicular carcinoma c.35G>A p.G12D 1:114716126-114716126 31
46 COSM583 NRAS thyroid,NS,carcinoma,follicular carcinoma c.182A>T p.Q61L 1:114713908-114713908 31
47 COSM707 MET thyroid,NS,carcinoma,follicular carcinoma c.3029C>T p.T1010I 7:116771936-116771936 31
48 COSM517 KRAS thyroid,NS,carcinoma,follicular carcinoma c.34G>A p.G12S 12:25245351-25245351 31
49 COSM532 KRAS thyroid,NS,carcinoma,follicular carcinoma c.38G>A p.G13D 12:25245347-25245347 31
50 COSM516 KRAS thyroid,NS,carcinoma,follicular carcinoma c.34G>T p.G12C 12:25245351-25245351 31

Expression for Thyroid Carcinoma, Hurthle Cell

Search GEO for disease gene expression data for Thyroid Carcinoma, Hurthle Cell.

Pathways for Thyroid Carcinoma, Hurthle Cell

GO Terms for Thyroid Carcinoma, Hurthle Cell

Sources for Thyroid Carcinoma, Hurthle Cell

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