tumoral calcinosis, hyperphosphatemic, familial, 3
MONDO:0060715Mondo
Findings
No curated finding names tumoral calcinosis, hyperphosphatemic, familial, 3 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
15 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.
- Achilles tendon calcificationHPOHP:0025441
- 1 of 1 reported patient
- Calvarial osteosclerosisHPOHP:0005450
- 1 of 1 reported patient
- Cerebral calcificationHPOHP:0002514
- 1 of 1 reported patient
- Elevated circulating calcitriol concentrationHPOHP:0031415
- 1 of 1 reported patient
- Elevated circulating parathyroid hormone levelHPOHP:0003165
- 1 of 1 reported patient
- FatigueHPOHP:0012378
- 1 of 1 reported patient
- HeadacheHPOHP:0002315
- 1 of 1 reported patient
- HypercalcemiaHPOHP:0003072
- 1 of 1 reported patient
- HyperphosphatemiaHPOHP:0002905
- 1 of 1 reported patient
- Metacarpal periosteal thickeningHPOHP:0006051
- 1 of 1 reported patient
- OsteopeniaHPOHP:0000938
- 1 of 1 reported patient
- Parathyroid hyperplasiaHPOHP:0008208
- 1 of 1 reported patient
Show the remaining 3
- Kidney stoneHPOHP:0000787
- 0 of 1 reported patient
- PolydipsiaHPOHP:0001959
- 0 of 1 reported patient
- PolyuriaHPOHP:0000103
- 0 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.
- KLHGNC:6344
- Limited · Ambry Genetics · Autosomal recessive · 2018
- Limited · Genomics England PanelApp · Autosomal recessive · 2020
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2019