familial hypocalciuric hypercalcemia 3
MONDO:0010926Mondo
Findings
No curated finding names familial hypocalciuric hypercalcemia 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the AP2S1 gene.
Definition from the Mondo Disease Ontology (MONDO:0010926), read 2026-09-29. CC BY 4.0.
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.
- AP2S1HGNC:565
- Strong · Ambry Genetics · Autosomal dominant · 2018
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
6 names
Resolves to: familial hypocalciuric hypercalcemia 3
- Also called
- AP2S1 familial hypocalciuric hypercalcemiafamilial hypocalciuric hypercalcemia caused by mutation in AP2S1familial hypocalciuric hypercalcemia type 3FHH type 3HHC3hpocalciuric hypercalcemia, type III