ORPHA:97290
Familial papillary thyroid carcinoma with renal papillary neoplasia
Synonyms: PTC-RCC
- Type
- Disease
- Group
- Disorder
- Age of onset
- Elderly
- Status
- active
An extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial papillary thyroid carcinoma with renal papillary neoplasia | PTC-RCC |
| fr | Cancer familial papillaire de la thyroïde avec néoplasie rénale papillaire | = en |
| de | Papilläres Schilddrüsenkarzinom mit papillärem Nierenzellkarzinom | = en |
| es | Carcinoma tiroideo papilar familiar con neoplasia renal papilar | = en |
| it | Carcinoma papillare familiare della tiroide associato a neoplasia papillare renale | = en |
| nl | Familiaal papillair schildkliercarcinoom met renale papillaire neoplasie | = en |
| pt | Carcinoma papilar da tiroide com neoplasia papilar renal | |
| pl | Rodzinny rak brodawkowaty tarczycy z nowotworem brodawkowatym nerki | = en |
| cs | Familiární papilární karcinom štítné žlázy s renální papilární neoplázií | = en |
| uk | Сімейна папілярна карцинома щитоподібної залози з нирковою папілярною неоплазією | = en |
| zh | 家族性乳头状甲状腺癌伴发肾乳头瘤 | = en |
| tr | Renal papiller neoplazi ile seyreden ailesel papiller tiroid karsinomu | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605642 | E | validated | |
| ICD-10 | C64 | NTBT | attributed | validated |
| ICD-10 | C73 | NTBT | attributed | validated |
| ICD-11 | 2C90.Y | NTBT | index | validated |
| MONDO | 0011578 | E | validated | |
| UMLS | C4274358 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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:319328Inherited renal cancer-predisposing syndrome
rare genetic diseases; rare renal diseases; rare neoplastic diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 10843148[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
14 annotations · validated 2015-10-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:3000037 | Abnormality of neck blood vessel | |
| HP:0012288 | Neoplasm of head and neck | |
| HP:0005994 | Nodular goiter | |
| HP:0006766 | Papillary renal cell carcinoma | |
| HP:0002895 | Papillary thyroid carcinoma | |
| Frequent (79-30%) | ||
| HP:0002733 | Abnormality of the lymph nodes | |
| HP:0002730 | Chronic noninfectious lymphadenopathy | |
| HP:0000853 | Goiter | |
| Occasional (29-5%) | ||
| HP:0003002 | Breast carcinoma | |
| HP:0006528 | Chronic lung disease | |
| HP:0003003 | Colon cancer | |
| HP:0002757 | Recurrent fractures | |
| HP:0006735 | Renal cortical adenoma | |
| HP:0011798 | Renal oncocytoma | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 10843148[PMID]_10211600[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/97290
- This record as JSON: /data/d/97290.json