parathyroid gland carcinoma
Findings
No curated finding names parathyroid gland carcinoma yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A very rare, slow-growing, clinically serious endocrine tumor that generally develops in mid-adulthood. PRTC presents as a palpable painless mass in the neck and causes severe hypercalcemia and related symptoms, non-specific gastrointestinal manifestations, as well as renal and bone complications related to primary hyperparathyroidism (nephrolithiasis, impaired renal function, osteoporosis, bone pain, and pathologic fractures, etc.). Some PRTCs are however non-functioning tumors.
Definition from the Mondo Disease Ontology (MONDO:0012004), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Typified by somatic mosaicism
HPO, annotations 2026-09-02
Features
36 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- HypercalcemiaHPOHP:0003072
- Obligate (100% of cases)
- Parathyroid carcinomaHPOHP:0006780
- Obligate (100% of cases)
- Primary hyperparathyroidismHPOHP:0008200
- Obligate (100% of cases)
- Abnormal parathyroid morphologyHPOHP:0011766
- Very frequent (80% to 99% of cases)
- Elevated circulating parathyroid hormone levelHPOHP:0003165
- Very frequent (80% to 99% of cases)
- HypercalciuriaHPOHP:0002150
- Very frequent (80% to 99% of cases)
- Hypophosphatemia
Show the remaining 24
- NephrocalcinosisHPOHP:0000121
- Frequent (30% to 79% of cases)
- OsteoporosisHPOHP:0000939
- Frequent (30% to 79% of cases)
- PolydipsiaHPOHP:0001959
- Frequent (30% to 79% of cases)
- Shortened QT intervalHPOHP:0012232
- Frequent (30% to 79% of cases)
- Uterine leiomyomaHPOHP:0000131
- Frequent (30% to 79% of cases)
- Weight lossHPOHP:0001824
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CDC73HGNC:16783
- Strong · Ambry Genetics · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
Other names
11 names
Resolves to: parathyroid gland carcinoma
- Also called
- adenocarcinoma of parathyroidadenocarcinoma of parathyroid glandadenocarcinoma of the parathyroidadenocarcinoma of the parathyroid glandcarcinoma of parathyroidcarcinoma of parathyroid glandcarcinoma of the parathyroidcarcinoma of the parathyroid glandparathyroid adenocarcinomaparathyroid carcinomaparathyroid gland adenocarcinoma