Familial papillary or follicular thyroid carcinoma
Synonyms: FNMTC · Familial pure nonmedullary thyroid carcinoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
Familial papillary or follicular thyroid carcinoma is a rare, hereditary nonmedullary thyroid carcinoma characterized by the presence of differentiated thyroid cancer of follicular cell origin in two or more first-degree relatives, in the absence of other familial tumor syndromes or radiation exposure. Frequent capsular invasion is observed. Biopsy reveals multicentric tumors with multiple adenomatous nodules with or without oxyphilia and follicular or papillary carcinoma histology.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial papillary or follicular thyroid carcinoma | FNMTC · Familial pure nonmedullary thyroid carcinoma |
| fr | Carcinome papillaire ou folliculaire familial de la thyroïde | Carcinome non médullaire pur familial de la thyroïde · FNMTC |
| de | Schilddrüsenkarzinom, papilläres oder follikuläres, familiäre Form | FNMTC · Schilddrüsenkarzinom, reines nicht-medulläres, familiäre Form |
| es | Carcinoma papilar o folicular familiar de tiroides | Carcinoma no medular puro familiar de tiroides · FNMTC |
| it | Familial papillary or follicular thyroid carcinoma / Carcinoma papillare o follicolare familiare della tiroide | Carcinoma familiare puro non midollare della tiroide · FNMTC |
| nl | Familiaal papillair of folliculair thyroïdcarcinoom | Familiale papillaire of folliculaire schildklierkanker · FNMTC · Familiaal papillair of folliculair schildkliercarcinoom · Familiaal zuiver niet-medullair thyroïdcarcinoom |
| pt | Carcinoma papilar ou folicular da tiroide, forma familiar | |
| pl | Rodzinny brodawkowaty lub pęcherzykowy rak tarczycy | Czysty nierdzeniasty rak tarczycy · FNMTC |
| cs | Familiární papilární nebo folikulární tyroidní karcinom | FNMTC · Familia´rni´ cistý nemedula´rni´ karcinom s?ti´tne´ z?la´zy · Familiární čistý nemedulární karcinom štítné žlázy |
| uk | Сімейна папілярна або фолікулярна карцинома щитоподібної залози | Сімейна чиста немедулярна карцинома щитоподібної залози · FNMTC |
| zh | 家族性乳头状或滤泡性甲状腺癌 | 家族性单纯性非髓性甲状腺癌 |
| tr | Ailesel papiller veya foliküler tiroid karsinomu | FNMTC · Ailesel saf medüller olmayan tiroid karsinomu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 188470 | BTNT | validated | |
| OMIM | 188550 | NTBT | validated | |
| OMIM | 603386 | BTNT | validated | |
| OMIM | 603744 | BTNT | validated | |
| OMIM | 606240 | BTNT | validated | |
| OMIM | 616534 | BTNT | validated | |
| OMIM | 616535 | BTNT | validated | |
| ICD-10 | C73 | NTBT | attributed | validated |
| MONDO | 0017895 | E | validated | |
| GARD | 8488 | 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:319494Familial nonmedullary thyroid carcinoma
rare genetic diseases; rare endocrine diseases; rare neoplastic diseases - ORPHA:140162Inherited cancer-predisposing syndrome
rare genetic diseases; rare neoplastic diseases
No children.
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MINPP1 | Candidate gene tested in | Not yet assessed | HGNC:7102 | ENSG00000107789 | 605391 | 10q23.2 | multiple inositol-polyphosphate phosphatase 1 | 11297621[PMID] |
| FOXE1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3806 | ENSG00000178919 | 602617 | 9q22.33 | forkhead box E1 | 25381600[PMID] |
| HABP2 | Disease-causing germline mutation(s) in | Assessed | HGNC:4798 | ENSG00000148702 | 603924 | 10q25.3 | hyaluronan binding protein 2 | 26222560[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
15 annotations · validated 2015-10-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:3000037 | Abnormality of neck blood vessel | |
| HP:0006731 | Follicular thyroid carcinoma | |
| HP:0012288 | Neoplasm of head and neck | |
| HP:0005994 | Nodular goiter | |
| Frequent (79-30%) | ||
| HP:0002733 | Abnormality of the lymph nodes | |
| HP:0002730 | Chronic noninfectious lymphadenopathy | |
| HP:0000853 | Goiter | |
| Occasional (29-5%) | ||
| HP:0002653 | Bone pain | |
| HP:0006528 | Chronic lung disease | |
| HP:0003003 | Colon cancer | |
| HP:0012531 | Pain | |
| HP:0006766 | Papillary renal cell carcinoma | |
| HP:0002895 | Papillary thyroid carcinoma | |
| HP:0002757 | Recurrent fractures | |
| HP:0002176 | Spinal cord compression | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 10030330[PMID]_22136209[PMID]_21190444[PMID]_11701697[PMID]_20001717[PMID]_20628519[PMID]_18832444[PMID]_3789026[PMID]_25881596[PMID]_21593347[PMID]_21816796[PMID]_9024215[PMID]_22443981[PMID]_9186475[PMID]_24617715[PMID]_24857573[PMID]_25928353[PMID]_7632152[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/319487
- This record as JSON: /data/d/319487.json