ORPHA:146
Differentiated thyroid carcinoma
Synonyms: Papillary or follicular thyroid carcinoma · Well-differentiated thyroid carcinoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare, slow-growing, epithelial thyroid carcinoma typically presenting as an asymptomatic thyroid mass and is classed as either papillary thyroid cancer (PTC), follicular thyroid cancer (FTC) or Hurthle cell thyroid cancer (HCTC).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Differentiated thyroid carcinoma | Papillary or follicular thyroid carcinoma · Well-differentiated thyroid carcinoma |
| fr | Cancer différencié de la thyroïde | Cancer bien différencié de la thyroïde · Cancer papillaire ou folliculaire de la thyroïde |
| de | Schilddrüsenkarzinom, differenziertes | Schilddrüsenkarzinom, gut differenziertes · Schilddrüsenkarzinom, papilläres oder follikuläres |
| es | Carcinoma diferenciado de tiroides | Carcinoma tiroideo bien diferenciado · Carcinoma tiroideo papilar o folicular |
| it | Carcinoma differenziato della tiroide | Carcinoma ben differenziato della tiroide · Carcinoma papillare o follicolare della tiroide |
| nl | Gedifferentieerd schildkliercarcinoom | Goed gedifferentieerd schildkliercarcinoom · Papillair of folliculair schildkliercarcinoom |
| pt | Carcinoma da tiroide diferenciado | Carcinoma papilar da tiroide |
| pl | Zróżnicowany nowotwór tarczycy | Dobrze zróżnicowany rak tarczycy · Rak pęcherzykowy lub brodawkowaty tarczycy |
| cs | Diferencovaný karcinom štítné žlázy | Papilární nebo folikulární karcinom štítné žlázy |
| uk | Диференційована карцинома щитовидної залози | Папілярна або фолікулярна карцинома щитовидної залози · Добре диференційована карцинома щитоподібної залози |
| zh | 甲状腺分化癌 | 乳头状或滤泡性甲状腺癌 |
| tr | Diferansiye tiroid karsinomu | İyi diferansiye tiroid karsinomu · Papiller veya foliküler tiroid karsinomu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 188550 | NTBT | validated | |
| OMIM | 607464 | BTNT | validated | |
| ICD-10 | C73 | NTBT | attributed | validated |
| MONDO | 0015447 | E | validated | |
| UMLS | C1337013 | E | validated | |
| GARD | 12027 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:100088Rare thyroid carcinoma
rare endocrine diseases; rare neoplastic diseases
No children.
4
Genes
29 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BRAF | Disease-causing somatic mutation(s) in | Assessed | HGNC:1097 | ENSG00000157764 | 164757 | 7q34 | B-Raf proto-oncogene, serine/threonine kinase | 12670889[PMID]_17891228[PMID]_25702102[PMID] |
| EIF1AX | Disease-causing somatic mutation(s) in | Assessed | HGNC:3250 | ENSG00000173674 | 300186 | Xp22.12 | eukaryotic translation initiation factor 1A X-linked | 25417114[PMID] |
| GAS8-AS1 | Disease-causing somatic mutation(s) in | Assessed | HGNC:1197 | ENSG00000221819 | 605179 | 16q24.3 | GAS8 antisense RNA 1 | 26941397[PMID] |
| HRAS | Disease-causing somatic mutation(s) in | Assessed | HGNC:5173 | ENSG00000174775 | 190020 | 11p15.5 | HRas proto-oncogene, GTPase | 25132659[PMID]_25648502[PMID]_25109485[PMID]_17891228[PMID] |
| KRAS | Disease-causing somatic mutation(s) in | Assessed | HGNC:6407 | ENSG00000133703 | 190070 | 12p12.1 | KRAS proto-oncogene, GTPase | 23625203[PMID]_25132659[PMID]_25648502[PMID] |
| LPAR4 | Disease-causing somatic mutation(s) in | Assessed | HGNC:4478 | ENSG00000147145 | 300086 | Xq21.1 | lysophosphatidic acid receptor 4 | 26941397[PMID] |
| NDUFA13 | Disease-causing somatic mutation(s) in | Assessed | HGNC:17194 | ENSG00000186010 | 609435 | 19p13.11 | NADH:ubiquinone oxidoreductase subunit A13 | 15841082[PMID] |
| NRAS | Disease-causing somatic mutation(s) in | Assessed | HGNC:7989 | ENSG00000213281 | 164790 | 1p13.2 | NRAS proto-oncogene, GTPase | 25132659[PMID]_25648502[PMID]_25109485[PMID]_17891228[PMID] |
| TERT | Disease-causing somatic mutation(s) in | Assessed | HGNC:11730 | ENSG00000164362 | 187270 | 5p15.33 | telomerase reverse transcriptase | 27875244[PMID]_27581851[PMID] |
| DIRC3 | Major susceptibility factor in | Assessed | HGNC:17805 | ENSG00000231672 | 608262 | 2q35 | disrupted in renal carcinoma 3 | 23894154[PMID] |
| FOXE1 | Major susceptibility factor in | Assessed | HGNC:3806 | ENSG00000178919 | 602617 | 9q22.33 | forkhead box E1 | 21730105[PMID] |
| NKX2-1 | Major susceptibility factor in | Assessed | HGNC:11825 | ENSG00000136352 | 600635 | 14q13.3 | NK2 homeobox 1 | 21730105[PMID] |
| ALK | Part of a fusion gene in | Assessed | HGNC:427 | ENSG00000171094 | 105590 | 2p23.2-p23.1 | ALK receptor tyrosine kinase | 25501013[PMID]_25148236[PMID] |
| CCDC6 | Part of a fusion gene in | Assessed | HGNC:18782 | ENSG00000108091 | 601985 | 10q21.2 | coiled-coil domain containing 6 | 25407564[PMID] |
| ERC1 | Part of a fusion gene in | Assessed | HGNC:17072 | ENSG00000082805 | 607127 | 12p13.33 | ELKS/RAB6-interacting/CAST family member 1 | 10337992[PMID] |
| ETV6 | Part of a fusion gene in | Assessed | HGNC:3495 | ENSG00000139083 | 600618 | 12p13.2 | ETS variant transcription factor 6 | 24327398[PMID] |
| GOLGA5 | Part of a fusion gene in | Assessed | HGNC:4428 | ENSG00000066455 | 606918 | 14q32.12 | golgin A5 | 9443391[PMID]_17062879[PMID] |
| NCOA4 | Part of a fusion gene in | Assessed | HGNC:7671 | ENSG00000266412 | 601984 | 10q11.22 | nuclear receptor coactivator 4 | 8290261[PMID]_25407564[PMID] |
| NTRK1 | Part of a fusion gene in | Assessed | HGNC:8031 | ENSG00000198400 | 191315 | 1q23.1 | neurotrophic receptor tyrosine kinase 1 | 9172002[PMID]_9169129[PMID]_19883730[PMID] |
| NTRK3 | Part of a fusion gene in | Assessed | HGNC:8033 | ENSG00000140538 | 191316 | 15q25.3 | neurotrophic receptor tyrosine kinase 3 | 24327398[PMID] |
| PAX8 | Part of a fusion gene in | Assessed | HGNC:8622 | ENSG00000125618 | 167415 | 2q14.1 | paired box 8 | 10958784[PMID]_25069464[PMID]_25708358[PMID]_17891228[PMID] |
| PCM1 | Part of a fusion gene in | Assessed | HGNC:8727 | ENSG00000078674 | 600299 | 8p22 | pericentriolar material 1 | 10980597[PMID] |
| PPARG | Part of a fusion gene in | Assessed | HGNC:9236 | ENSG00000132170 | 601487 | 3p25.2 | peroxisome proliferator activated receptor gamma | 10958784[PMID]_25069464[PMID]_25708358[PMID]_17891228[PMID] |
| RET | Part of a fusion gene in | Assessed | HGNC:9967 | ENSG00000165731 | 164761 | 10q11.21 | ret proto-oncogene | 25407564[PMID]_17891228[PMID] |
| TFG | Part of a fusion gene in | Assessed | HGNC:11758 | ENSG00000114354 | 602498 | 3q12.2 | trafficking from ER to golgi regulator | 9172002[PMID]_9169129[PMID] |
| TPR | Part of a fusion gene in | Assessed | HGNC:12017 | ENSG00000047410 | 189940 | 1q31.1 | translocated promoter region, nuclear basket protein | 9172002[PMID]_1532241[PMID] |
| TRIM24 | Part of a fusion gene in | Assessed | HGNC:11812 | ENSG00000122779 | 603406 | 7q33-q34 | tripartite motif containing 24 | 10439047[PMID]_17062879[PMID] |
| TRIM27 | Part of a fusion gene in | Assessed | HGNC:9975 | ENSG00000204713 | 602165 | 6p22.1 | tripartite motif containing 27 | 12787916[PMID]_17062879[PMID] |
| TRIM33 | Part of a fusion gene in | Assessed | HGNC:16290 | ENSG00000197323 | 605769 | 1p13.2 | tripartite motif containing 33 | 10439047[PMID]_17062879[PMID] |
5
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 5.25 / 100 000 | Worldwide | Value and class | Validated | [EXPERT]_ORPHANET |
| Annual incidence | 1-9 / 100 000 | 2 / 100 000 | Europe | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/146
- This record as JSON: /data/d/146.json