Isolated familial medullary thyroid carcinoma
Synonyms: Hereditary isolated MTC · Isolated familial MTC
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
A rare thyroid tumor characterized by a malignant neoplasm derived from the calcitonin-secreting parafollicular C-cells of the thyroid and occurring familially, but not as a component of multiple endocrine neoplasia syndromes. The commonly multifocal, bilateral nodules are typically located at the junction of the upper and middle thirds of the thyroid lobes. Clinically, patients may present with diarrhea, flushing, or weight loss caused by excessive secretion of calcitonin by the tumor. In rare cases, the tumor can also cause Cushing syndrome due to ectopic corticotropin production.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated familial medullary thyroid carcinoma | Hereditary isolated MTC · Isolated familial MTC |
| fr | Cancer médullaire de la thyroïde familial isolé | MTC familial isolé |
| de | Isoliertes familiäres medulläres Schilddrüsenkarzinom | Isoliertes familiäres MTC |
| es | Carcinoma medular de tiroides familiar aislado | MTC familiar aislado · MTC hereditario aislado |
| it | Carcinoma midollare familiare della tiroide | MTC familiare |
| nl | Geïsoleerd familiaal medullair schildkliercarcinoom | Geïsoleerd familiaal MTC |
| pt | Carcinoma medular da tiroide isolado | MTC isolado familiar · MTC isolado hereditário |
| pl | Rodzinny rak rdzeniasty tarczycy | Rodzinny MTC |
| cs | Familiární medulární karcinom štítné žlázy | Familiární MTC |
| uk | Сімейна медулярна карцинома щитоподібної залози | Сімейний MTC |
| zh | 家族性甲状腺髓样癌 | 家族性MTC |
| tr | ailesel medüller tiroid karsinomu | Ailesel MTC |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 155240 | E | validated | |
| ICD-10 | C73 | NTBT | attributed | validated |
| ICD-11 | 2D10.4 | NTBT | attributed | validated |
| MONDO | 0007958 | E | validated | |
| MeSH | C536911 | E | validated | |
| UMLS | C1833921 | E | validated | |
| MedDRA | 10073153 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:425003Inherited digestive cancer-predisposing syndrome
rare gastroenterological diseases; rare genetic diseases; rare neoplastic diseases - ORPHA:100088Rare thyroid carcinoma
rare endocrine diseases; rare neoplastic diseases
No children.
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ESR2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3468 | ENSG00000140009 | 601663 | 14q23.2-q23.3 | estrogen receptor 2 | 26945007[PMID] |
| NTRK1 | Disease-causing germline mutation(s) in | Assessed | HGNC:8031 | ENSG00000198400 | 191315 | 1q23.1 | neurotrophic receptor tyrosine kinase 1 | 10443680[PMID] |
| RET | Disease-causing germline mutation(s) in | Assessed | HGNC:9967 | ENSG00000165731 | 164761 | 10q11.21 | ret proto-oncogene | 10443680[PMID]_20833330[PMID]_20301434[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99361
- This record as JSON: /data/d/99361.json