hyperphosphatemic familial tumoral calcinosis

Term ID

DOID:0111063

Synonyms

• cortical hyperostosis with hyperphosphatemia
• familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
• familial Teutschlaender disease
• HFTC
• HHS
• hypercalcemic tumoral calcinosis
• hyperostosis with hyperphosphatemia
• hyperphosphatemia hyperostosis
• hyperphosphatemia hyperostosis syndrome
• hyperphosphatemia tumoral calcinosis
• lipocalcinogranulomatosis
• morbus Teutschlaender
• PHPTC
• 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. (5)

References

• GARD:10879
• ICD10CM:M11.2
• OMIM:211900
• ORDO:306661

Ontology

Human Disease   ( DOID:0111063 )