raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:1332

Medullary thyroid carcinoma

Synonyms: MTC

Type
Disease
Group
Disorder
Inheritance
Not applicable
Age of onset
Adult
Status
active

Medullary thyroid carcinoma (MTC) is developed from thyroid C cells that secrete calcitonin (CT).

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enMedullary thyroid carcinomaMTC
frCancer médullaire de la thyroïde= en
deSchilddrüsenkarzinom, medulläres
esCarcinoma medular de tiroides= en
itCarcinoma midollare della tiroide= en
nlMedullair schildkliercarcinoom= en
ptCancro medular da tiroide
plRak rdzeniasty tarczycy= en
csMedulární karcinom štítné žlázy= en
ukМедулярна карцинома щитоподібної залози= en
zh甲状腺髓样癌= en
trMedüller tiroid karsinomu= en

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-10C73NTBTattributedvalidated
ICD-112D10.4Especificvalidated
MONDO0015277Evalidated
MeSHC536914Evalidated
UMLSC0238462Evalidated
GARD7004Evalidated
MedDRA10027101Evalidated

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):

No children.

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

3 records
TypeClassValueAreaQualificationValidationSource
Point prevalence1-9 / 100 0005 / 100 000EuropeValue and classValidatedEuropean Medicines Agency 2018[OTHER]
Annual incidence1-9 / 1 000 0000.17 / 100 000United StatesValue and classValidated21186939[PMID]_National Cancer OTHERitute 1992-2006[OTHER]
Annual incidence1-9 / 1 000 0000.22 / 100 000EuropeValue and classValidatedRARECARE surveillance of rare cancers in Europe 2011[OTHER]

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

14 annotations · validated 2016-06-13
HPOTerm (as annotated by Orphanet)Diagnostic
Obligate (100%)
HP:0002865Medullary thyroid carcinoma
Very frequent (99-80%)
HP:0003528Elevated calcitonin
HP:0005994Nodular goiter
Frequent (79-30%)
HP:0002014Diarrhea
HP:0002015Dysphagia
HP:0000975Hyperhidrosis
HP:0002716Lymphadenopathy
Occasional (29-5%)
HP:0030146Abnormal liver parenchyma morphology
HP:0001618Dysphonia
HP:0100526Neoplasm of the lung
HP:0010622Neoplasm of the skeletal system
HP:0002666Pheochromocytoma
HP:0008200Primary hyperparathyroidism
HP:0001824Weight loss

Run the differential on the 3 obligate / very frequent terms

Annotation source: 25810047[PMID]_23744408[PMID]_21346073[PMID]_21717441[PMID]_24261394[PMID]_24942936[PMID]_25490273[PMID]_22170709[PMID]_22162466[PMID]_20943788[PMID]

7

Sources for this card