familial hypocalciuric hypercalcemia 1
Findings
No curated finding names familial hypocalciuric hypercalcemia 1 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 CASR gene.
Definition from the Mondo Disease Ontology (MONDO:0007791), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
3 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
- 1 of 1 reported patient
- HypermagnesemiaHPOHP:0002918
- 1 of 1 reported patient
- HypocalciuriaHPOHP:0003127
- 1 of 1 reported patient
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.
- CASRHGNC:1514
- Definitive · ClinGen · Autosomal dominant · 2023
- Definitive · Illumina · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
7 names
Resolves to: familial hypocalciuric hypercalcemia 1
- Also called
- CASR familial hypocalciuric hypercalcemiafamilial benign hypercalcemia 1familial hypocalciuric hypercalcemia caused by mutation in CASRfamilial hypocalciuric hypercalcemia type 1FHH type 1HHC1hpocalciuric hypercalcemia, type I