hypercalcemia, infantile, 1
MONDO:0020739Mondo
Findings
No curated finding names hypercalcemia, infantile, 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
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.
- Decreased circulating parathyroid hormone levelHPOHP:0031817
- 5 of 5 reported patients
- HypercalcemiaHPOHP:0003072
- 10 of 10 reported patients
- HypercalciuriaHPOHP:0002150
- 10 of 10 reported patients
- Medullary nephrocalcinosisHPOHP:0012408
- 10 of 10 reported patients
- PolyuriaHPOHP:0000103
- 7 of 10 reported patients
- HypotoniaHPOHP:0001252
- 6 of 10 reported patients
- Failure to thriveHPOHP:0001508
- 5 of 10 reported patients
- DehydrationHPOHP:0001944
- LethargyHPOHP:0001254
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.
- CYP24A1HGNC:2602
- Definitive · G2P · Autosomal recessive · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · Laboratory for Molecular Medicine · Autosomal recessive · 2020
Where it sits
- A kind of
Other names
2 names
Resolves to: hypercalcemia, infantile, 1
- Also called
- autosomal recessive infantile hypercalcemia 1HCINF1