tumoral calcinosis, hyperphosphatemic, familial, 1
MONDO:0100252Mondo
Findings
No curated finding names tumoral calcinosis, hyperphosphatemic, familial, 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
- Juvenile onset
HPO, annotations 2026-09-02
Features
7 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.
- Elevated circulating calcitriol concentrationHPOHP:0031415
- 5 of 5 reported patients
- HyperostosisHPOHP:0100774
- 2 of 2 reported patients
- HyperphosphatemiaHPOHP:0002905
- 7 of 7 reported patients
- CalcinosisHPOHP:0003761
- 3 of 5 reported patients
- Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
- 0 of 2 reported patients
- HypercalcemiaHPOHP:0003072
- 0 of 2 reported patients
- HyperparathyroidismHPOHP:0000843
- 0 of 2 reported patients
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.
- GALNT3HGNC:4125
- Definitive · ClinGen · Autosomal recessive · 2024
- Definitive · G2P · Autosomal recessive · 2018
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
7 names
Resolves to: tumoral calcinosis, hyperphosphatemic, familial, 1
- Also called
- calcinosis, tumoral, with hyperphosphatemiaHFTC1hyperostosis-hyperphosphatemia syndromeMorbus TeutschlaenderTeutschlaender disease, familialtumoral calcinosis, hyperphosphatemic, familialtumoral calcinosis, primary Hyperphosphatemic