hyperparathyroidism 2 with jaw tumors
Findings
No curated finding names hyperparathyroidism 2 with jaw tumors yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts.
Definition from the Mondo Disease Ontology (MONDO:0007768), read 2026-09-29. CC BY 4.0.
Features
34 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 adenomaHPOHP:0002897
- 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)
- HypophosphatemiaHPOHP:0002148
- Very frequent (80% to 99% of cases)
- DysphagiaHPOHP:0002015
- Frequent (30% to 79% of cases)
- FatigueHPOHP:0012378
- Frequent (30% to 79% of cases)
- FibromaHPOHP:0010614
- Frequent (30% to 79% of cases)
- Kidney stoneHPOHP:0000787
- Frequent (30% to 79% of cases)
- NephrocalcinosisHPOHP:0000121
- Frequent (30% to 79% of cases)
Show the remaining 22
- 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)
- Bone painHPOHP:0002653
- Occasional (5% to 29% of cases)
- ChondrocalcinosisHPOHP:0000934
- Occasional (5% to 29% 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
- Definitive · Ambry Genetics · Autosomal dominant · 2023
- Definitive · ClinGen · Autosomal dominant · 2019
- Definitive · G2P · Autosomal dominant · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
Other names
6 names
Resolves to: hyperparathyroidism 2 with jaw tumors
- Also called
- HPT-JThyperparathyroidism type 2hyperparathyroidism-2hyperparathyroidism-jaw tumor syndromehyperparathyroidism-jaw tumour syndromeparathyroid adenoma with cystic changes