familial hypocalciuric hypercalcemia 2
Findings
No curated finding names familial hypocalciuric hypercalcemia 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A familial hypocalciuric hypercalcemia that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13.
Definition from the Mondo Disease Ontology (MONDO:0007792), read 2026-09-29. CC BY 4.0.
Features
1 feature
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.
- HypermagnesemiaHPOHP:0002918
- 10 of 10 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.
- GNA11HGNC:4379
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2022
Where it sits
- A kind of
Other names
4 names
Resolves to: familial hypocalciuric hypercalcemia 2
- Also called
- familial hypocalciuric hypercalcemia type 2FHH type 2HHC2hpocalciuric hypercalcemia, type II