Tumoral calcinosis, hyperphosphatemic, familial, 3

Preferred Label : Tumoral calcinosis, hyperphosphatemic, familial, 3;

Symbol : HFTC3;

CISMeF acronym : HFTC3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the klotho gene (KLOTHO, 604824.0002);

Laboratory abnormalities : Elevated serum parathyroid hormone; Elevated renal tubular reabsorption of phosphate; Elevated 1,25-dihydroxyvitamin D; Elevated intact FGF23; Hypercalcemia; Elevated C-terminal FGF23; Hyperphosphatemia;

Prefixed ID : #617994;

Details

Origin ID

617994;

UMLS CUI

C4693864;

Genes related to phenotype
- Klotho [OMIM gene]
HPO term(s)
- Achilles tendon calcification [HPO term]
- Autosomal recessive inheritance [HPO term]
- Calvarial osteosclerosis [HPO term]
- Cerebral calcification [HPO term]
- Elevated circulating parathyroid hormone level [HPO term]
- Fatigue [HPO term]
- Headache [HPO term]
- High serum calcitriol [HPO term]
- Hypercalcemia [HPO term]
- Hyperphosphatemia [HPO term]
- Metacarpal periosteal thickening [HPO term]
- Osteopenia [HPO term]
- Parathyroid hyperplasia [HPO term]
Not associated HPO term(s)
- Nephrolithiasis [HPO term]
- Polydipsia [HPO term]
- Polyuria [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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