hypercalcemia, infantile, 2
Findings
No curated finding names hypercalcemia, infantile, 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hypercalcemia, infantile in which the cause of the disease is a mutation in the SLC34A1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014851), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
9 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.
- NephrocalcinosisHPOHP:0000121
- 15 of 15 reported patients
- HypercalciuriaHPOHP:0002150
- 12 of 15 reported patients
- PolyuriaHPOHP:0000103
- 11 of 14 reported patients
- Failure to thriveHPOHP:0001508
- 11 of 15 reported patients
- HypotoniaHPOHP:0001252
- 4 of 15 reported patients
- HypercalcemiaHPOHP:0003072
- HypophosphatemiaHPOHP:0002148
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.
- SLC34A1HGNC:11019
- Definitive · ClinGen · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2022
Where it sits
- A kind of
Other names
5 names
Resolves to: hypercalcemia, infantile, 2
- Also called
- autosomal recessive infantile hypercalcemia caused by mutation in SLC34A1HCINF2hypercalcemia, infantile 2hypercalcemia, infantile, type 2SLC34A1 autosomal recessive infantile hypercalcemia