familial isolated hyperparathyroidism
Findings
No curated finding names familial isolated hyperparathyroidism yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors.
Definition from the Mondo Disease Ontology (MONDO:0015027), read 2026-09-29. CC BY 4.0.
Features
13 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.
- ChondrocalcinosisHPOHP:0000934
- Very frequent (80% to 99% of cases)
- Elevated circulating parathyroid hormone levelHPOHP:0003165
- Very frequent (80% to 99% of cases)
- Generalized osteoporosisHPOHP:0040160
- Very frequent (80% to 99% of cases)
- HypercalcemiaHPOHP:0003072
- Very frequent (80% to 99% of cases)
- HypercalciuriaHPOHP:0002150
- Very frequent (80% to 99% of cases)
- HyperphosphaturiaHPOHP:0003109
- Very frequent (80% to 99% of cases)
- HypophosphatemiaHPOHP:0002148
- Very frequent (80% to 99% of cases)
- NephrocalcinosisHPOHP:0000121
- Very frequent (80% to 99% of cases)
- OsteopeniaHPOHP:0000938
- Very frequent (80% to 99% of cases)
- Parathyroid adenomaHPOHP:0002897
- Very frequent (80% to 99% of cases)
- Primary hyperparathyroidismHPOHP:0008200
- Very frequent (80% to 99% of cases)
- Abdominal symptomHPOHP:0011458
- Occasional (5% to 29% of cases)
Show the remaining 1
- Renal insufficiencyHPOHP:0000083
- Occasional (5% to 29% of cases)
Genes
3 genes
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.
Where it sits
- Narrower terms (3)
Other names
2 names
Resolves to: familial isolated hyperparathyroidism
- Also called
- FIHPFIHPT