MeSH Browser

MeSH Supplementary: Tumoral Calcinosis, Hyperphosphatemic, Familial
Unique ID: C566870
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C566870
Entry Term(s): Calcinosis, Tumoral, With Hyperphosphatemia; Hyperphosphatemia Hyperostosis; Hyperphosphatemia Hyperostosis Syndrome; Hyperphosphatemia Tumoral Calcinosis; Hyperphosphatemic Familial Tumoral Calcinosis; Lipocalcinogranulomatosis; Morbus Teutschlaender; Primary Hyperphosphatemic Tumoral Calcinosis; Teutschlaender Disease, Familial; Tumoral Calcinosis, Primary Hyperphosphatemic
Registry Number: 0
Heading Mapped to: *Calcinosis; *Hyperostosis, Cortical, Congenital; *Hyperphosphatemia
Frequency: 55
Note: A rare autosomal recessive metabolic disorder characterized by the progressive deposition of basic calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone. Hyperphosphatemia is caused by increased renal absorption of phosphate due to loss-of-function mutations in the FGF23 or GALNT3 gene. OMIM: 211900
Date of Entry: 2012/11/05
Revision Date: 2015/11/10

Tumoral Calcinosis, Hyperphosphatemic, Familial MeSH Supplementary Concept Data 2024