hyperparathyroidism 4
Findings
No curated finding names hyperparathyroidism 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any familial isolated hyperparathyroidism in which the cause of the disease is a mutation in the GCM2 gene.
Definition from the Mondo Disease Ontology (MONDO:0024570), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
5 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
- 19 of 19 reported patients
- Primary hyperparathyroidismHPOHP:0008200
- 19 of 19 reported patients
- Kidney stoneHPOHP:0000787
- 4 of 19 reported patients
- OsteopeniaHPOHP:0000938
- 3 of 19 reported patients
- Parathyroid carcinomaHPOHP:0006780
- 1 of 17 reported patients
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.
- GCM2HGNC:4198
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
Where it sits
Other names
3 names
Resolves to: hyperparathyroidism 4
- Also called
- familial isolated hyperparathyroidism caused by mutation in GCM2GCM2 familial isolated hyperparathyroidismhyperparathyroidism type 4