tumoral calcinosis, hyperphosphatemic, familial, 2
MONDO:0060714Mondo
Findings
No curated finding names tumoral calcinosis, hyperphosphatemic, familial, 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
4 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.
- HypercalciuriaHPOHP:0002150
- 1 of 1 reported patient
- Medullary nephrocalcinosisHPOHP:0012408
- 1 of 1 reported patient
- Radial bowingHPOHP:0002986
- 1 of 1 reported patient
- Subcutaneous calcificationHPOHP:0007618
- 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.
- FGF23HGNC:3680
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Moderate · Ambry Genetics · Autosomal recessive · 2018