Tumoral calcinosis, hyperphosphatemic, familial, 1

Preferred Label : Tumoral calcinosis, hyperphosphatemic, familial, 1;

Symbol : HFTC1;

CISMeF acronym : HFTC; HFTC1; HHS; PHPTC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hyperostosis with hyperphosphatemia; Hyperostosis-hyperphosphatemia syndrome; Tumoral calcinosis, primary hyperphosphatemic; HHS; Cortical hyperostosis with hyperphosphatemia; PHPTC; LIPOCALCINOGRANULOMATOSIS; Morbus teutschlaender; Teutschlaender disease, familial; Calcinosis, tumoral, with hyperphosphatemia; HFTC; Tumoral calcinosis, hyperphosphatemic, familial;

Description : Hyperphosphatemic familial tumoral calcinosis is a rare autosomal recessive metabolic disorder characterized by the progressive deposition of basic calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone (Chefetz et al., 2005). The biochemical hallmark of tumoral calcinosis is hyperphosphatemia caused by increased renal absorption of phosphate due to loss-of-function mutations in the FGF23 or GALNT3 gene. The term 'hyperostosis-hyperphosphatemia syndrome' is sometimes used when the disorder is characterized by involvement of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis. Although some have distinguished HHS from FTC by the presence of bone involvement and the absence of skin involvement (Frishberg et al., 2005), Ichikawa et al. (2010) concluded that the 2 entities represent a continuous spectrum of the same disease, best described as familial hyperphosphatemic tumoral calcinosis.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 gene (GALNT3, 601756.0001);

Laboratory abnormalities : Hyperphosphatemia; Normal to elevated serum 1,25-dihydroxycholecalciferol (calcitriol); Normal serum parathyroid hormone (PTH); Normal serum calcium; Increased serum FGF23; Increased percent tubular reabsorption of phosphorus;

Prefixed ID : #211900;

Details

Origin ID

211900;

UMLS CUI

C4692564;

Automatic exact mappings (from CISMeF team)
- Department of Health and Human Services [NCIt concept]
- FGF23 wt Allele [NCIt concept]
- Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome [ORDO Disease]
- Familial tumoral calcinosis [ORDO Disease]
- Hyperostosis-hyperphosphatemia syndrome [MeSH concept]
- hoyeraal hreidarsson syndrome [MeSH Supplementary Concept]
- hyperostosis-hyperphosphatemia syndrome [MeSH Supplementary Concept]
- hypotrichosis 1 [DO Concept]
- polypeptide N-acetylgalactosaminyltransferase 3 [ORDO Gene]
Broader ORDO disease(s)
- Familial tumoral calcinosis [ORDO Disease]
Currated CISMeF NLP mapping
- Hyperphosphatemic Familial Tumoral Calcinosis [NCIt concept]
- hyperphosphatemic familial tumoral calcinosis [DO Concept]
- tumoral calcinosis, hyperphosphatemic, familial [MeSH concept]
- tumoral calcinosis, hyperphosphatemic, familial [MeSH Supplementary Concept]
DO Cross reference
- hyperphosphatemic familial tumoral calcinosis [DO Concept]
Genes related to phenotype
- Udp-n-acetyl-alpha-D-galactosamine:polypeptide n-acetylgalactosaminyltransferase 3 [OMIM gene]
HPO term(s)
- Abnormality of the skin [HPO term]
- Angioid streaks of the fundus [HPO term]
- Autosomal recessive inheritance [HPO term]
- Calcinosis [HPO term]
- Conjunctival whitish salt-like deposits [HPO term]
- Decreased renal tubular phosphate excretion [HPO term]
- Enamel hypoplasia [HPO term]
- Hyperostosis [HPO term]
- Hyperphosphatemia [HPO term]
- Increased renal tubular phosphate reabsorption [HPO term]
- Juvenile onset [HPO term]
- Nephrocalcinosis [HPO term]
- Pulp calcification [HPO term]
- Subperiosteal bone formation [HPO term]
- Taurodontia [HPO term]
- Vascular calcification [HPO term]
Not associated HPO term(s)
- Hypercalcemia [HPO term]
- Hyperparathyroidism [HPO term]
ORDO concept(s)
- Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome [ORDO Disease]
- Familial tumoral calcinosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyperphosphatemic Familial Tumoral Calcinosis [NCIt concept]
- hyperphosphatemic familial tumoral calcinosis [DO Concept]
- tumoral calcinosis, hyperphosphatemic, familial [MeSH Supplementary Concept]
- tumoral calcinosis, hyperphosphatemic, familial [MeSH concept]
Validated automatic mappings to NTBT
- Hyperphosphatemic familial tumoral calcinosis (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients