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hyperphosphatemic familial tumoral calcinosis
Summary
- Synonym
-
- HFTC
- HHS
- PHPTC
- cortical hyperostosis with hyperphosphatemia
- familial Teutschlaender disease
- familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
- hypercalcemic tumoral calcinosis
- hyperostosis with hyperphosphatemia
- hyperphosphatemia hyperostosis
- hyperphosphatemia hyperostosis syndrome
- hyperphosphatemia tumoral calcinosis
- lipocalcinogranulomatosis
- morbus Teutschlaender
- primary hyperphosphatemic tumoral calcinosis
- tumoral calcinosis with hyperphosphatemia
- Definition
- A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene.
- Super Class
- autosomal recessive disease calcinosis inherited metabolic disorder
External Links
- Disease Ontology
- DOID:0111063
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q14435 | Polypeptide N-acetylgalactosaminyltransferase 3 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000679 | Taurodontia |
| HP:0006297 | Enamel hypoplasia |
| HP:0003072 | Hypercalcemia |
| HP:0100774 | Hyperostosis |
| HP:0003621 | Juvenile onset |
| HP:0001102 | Angioid streaks of the fundus |
| HP:0005571 | Increased renal tubular phosphate reabsorption |
