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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 |
|---|---|---|
| P05186 | Alkaline phosphatase, tissue-nonspecific isozyme | |
| P08758 | Annexin A5 | |
| P22413 | Ectonucleotide pyrophosphatase/phosphodiesterase family member 1 | |
| Q14435 | Polypeptide N-acetylgalactosaminyltransferase 3 | |
| Q9UEF7 | Klotho |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003155 | Elevated circulating alkaline phosphatase concentration |
| HP:0007799 | Conjunctival whitish salt-like deposits |
| HP:0000843 | Hyperparathyroidism |
| HP:0004934 | Vascular calcification |
| HP:0000121 | Nephrocalcinosis |
| HP:0003761 | Calcinosis |
| HP:0005572 | Decreased renal tubular phosphate excretion |
| HP:0002905 | Hyperphosphatemia |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003771 | Pulp calcification |
