familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
MONDO:0100251Mondo
Findings
No curated finding names familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Genes
3 genes
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 · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- GALNT3HGNC:4125
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
- KLHGNC:6344
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
- Also called
- HFTChypercalcemic tumoral calcinosishyperphosphatemic familial tumoral calcinosis