Tumoral calcinosis, hyperphosphatemic, familial, 2

Preferred Label : Tumoral calcinosis, hyperphosphatemic, familial, 2;

Symbol : HFTC2;

CISMeF acronym : HFTC2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the fibroblast growth factor 23 gene (FGF23, 605380.0003);

Laboratory abnormalities : Normal serum calcium; Hyperphosphatemia; Normal serum parathyroid hormone; Increased renal tubular reabsorption of phosphate; Normal-elevated serum 1,25-dihydroxyvitamin D; Decreased-normal intact FGF23; Increased C-terminal FGF23;

Prefixed ID : #617993;

Details

Origin ID

617993;

UMLS CUI

C4693863;

Genes related to phenotype
- Fibroblast growth factor 23 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Hypercalciuria [HPO term]
- Medullary nephrocalcinosis [HPO term]
- Radial bowing [HPO term]
- Subcutaneous calcification [HPO term]
ORDO concept(s)
- Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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