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GTR Home > Conditions/Phenotypes > Tumoral calcinosis, hyperphosphatemic, familial, 1

Tumoral calcinosis, hyperphosphatemic, familial, 1

Synonyms
CALCINOSIS, TUMORAL, WITH HYPERPHOSPHATEMIA; Cortical hyperostosis with hyperphosphatemia; FGF23-Related Familial Hyperphosphatemic Tumoral Calcinosis; Hyperostosis with hyperphosphatemia; Hyperostosis-hyperphosphatemia syndrome; LIPOCALCINOGRANULOMATOSIS; MORBUS TEUTSCHLAENDER; TEUTSCHLAENDER DISEASE, FAMILIAL; TUMORAL CALCINOSIS, PRIMARY HYPERPHOSPHATEMIC

Summary

Excerpted from the GeneReview: Hyperphosphatemic Familial Tumoral Calcinosis
Hyperphosphatemic familial tumoral calcinosis (HFTC) is characterized by: Ectopic calcifications (tumoral calcinosis) typically found in periarticular soft tissues exposed to repetitive trauma or prolonged pressure (e.g., hips, elbows, and shoulders); and Painful swellings (referred to as hyperostosis) in the areas overlying the diaphyses of the tibiae (and less often the ulna, metacarpal bones, and radius). The dental phenotype unique to HFTC includes enamel hypoplasia, short and bulbous roots, obliteration of pulp chambers and canals, and pulp stones. Less common are large and small vessel calcifications that are often asymptomatic incidental findings on radiologic studies but can also cause peripheral vascular insufficiency (e.g., pain, cold extremities, and decreased peripheral pulses). Less frequently reported findings include testicular microlithiasis and angioid streaks of the retina.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
References
Chapter Notes
Authors:
Mary Scott Ramnitz
Rachel I Gafni
Michael T Collins
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Available tests

34 tests are in the database for this condition.

Clinical tests (34 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GalNAc-T3, HFTC, HFTC1, HHS, GALNT3
    Summary: polypeptide N-acetylgalactosaminyltransferase 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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