Familial papillary thyroid carcinoma with renal papillary neoplasia
diseaseOn this page
Also known as PTC-RCC
Summary
Familial papillary thyroid carcinoma with renal papillary neoplasia (MONDO:0011578) is a cancer. A subtype of familial nonmedullary thyroid carcinoma — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Classification: Cancer
- Prevalence: (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 14
Clinical features
Epidemiology
Prevalence records
1 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 2 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
14 HPO clinical features (Orphanet curated; top 14 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0002895 | Papillary thyroid carcinoma | Very frequent (80-99%) |
| HP:0005994 | Nodular goiter | Very frequent (80-99%) |
| HP:0006766 | Papillary renal cell carcinoma | Very frequent (80-99%) |
| HP:0012288 | Neoplasm of head and neck | Very frequent (80-99%) |
| HP:3000037 | Abnormality of neck blood vessel | Very frequent (80-99%) |
| HP:0000853 | Goiter | Frequent (30-79%) |
| HP:0002730 | Chronic noninfectious lymphadenopathy | Frequent (30-79%) |
| HP:0002733 | Abnormality of the lymph nodes | Frequent (30-79%) |
| HP:0002757 | Recurrent fractures | Occasional (5-29%) |
| HP:0003002 | Breast carcinoma | Occasional (5-29%) |
| HP:0003003 | Colon cancer | Occasional (5-29%) |
| HP:0006528 | Chronic lung disease | Occasional (5-29%) |
| HP:0006735 | Renal cortical adenoma | Occasional (5-29%) |
| HP:0011798 | Renal oncocytoma | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | familial papillary thyroid carcinoma with renal papillary neoplasia |
| Mondo ID | MONDO:0011578 |
| MeSH | C565310 |
| OMIM | 605642 |
| Orphanet | 97290 |
| SNOMED CT | 717734005 |
| UMLS | C1854104 |
| MedGen | 381339 |
| GARD | 0016853 |
| Is cancer (heuristic) | yes |
Also known as: PTC-RCC · ptc-RCC
Disease family
This is a subtype of familial nonmedullary thyroid carcinoma. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › familial nonmedullary thyroid carcinoma › familial papillary thyroid carcinoma with renal papillary neoplasia
Related subtypes (2): thyroid cancer, nonmedullary, 1, familial papillary or follicular thyroid carcinoma
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.