normophosphatemic familial tumoral calcinosis
MONDO:0012502Mondo
Findings
No curated finding names normophosphatemic familial tumoral calcinosis 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
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.
- Calcinosis cutisHPOHP:0025520
- 8 of 8 reported patients
- Abnormal circulating calcium concentrationHPOHP:0004363
- 0 of 8 reported patients
- Abnormal circulating phosphate ion concentrationHPOHP:0100529
- 0 of 8 reported patients
- Abnormal circulating vitamin D concentrationHPOHP:0100511
- 0 of 8 reported patients
- Decreased circulating parathyroid hormone levelHPOHP:0031817
- 0 of 8 reported patients
- ConjunctivitisHPOHP:0000509
- GingivitisHPOHP:0000230
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.
- SAMD9HGNC:1348
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Moderate · Genomics England PanelApp · Autosomal recessive · 2020
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · ClinGen · Autosomal recessive · 2025
Where it sits
Other names
1 name
Resolves to: normophosphatemic familial tumoral calcinosis
- Also called
- tumoral calcinosis, familial, normophosphatemic