Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hyperphosphatemic familial tumoral calcinosis

Hypophosphatemic familial tumoral calcinosis is an autosomal recessive disorder of phosphate handling that is characterized by hyperphosphatemia and tumor calcifications.

Symptoms

Calcinosis
Calcinosis tumoralis is caused by prolonged hyperphosphatemia.
Hyperphosphatemia
Hyperphosphatemia is the result of dysregulation of renal phosphat handling with increased reabsorption.

Systematic

Disturbances in phosphate metabolism
Hyperphosphatemic familial tumoral calcinosis
FGF23
GALNT3
KL
Hypophosphatasia
Hypophosphatemic bone and kindney disease

References:

1.

Steinherz R et al. (1985) Elevated serum calcitriol concentrations do not fall in response to hyperphosphatemia in familial tumoral calcinosis.

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2.

Lyles KW et al. (1985) Genetic transmission of tumoral calcinosis: autosomal dominant with variable clinical expressivity.

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3.

Slavin RE et al. (1993) Familial tumoral calcinosis. A clinical, histopathologic, and ultrastructural study with an analysis of its calcifying process and pathogenesis.

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4.

MCPHAUL JJ et al. (1961) Heterotopic calcification, hyperphosphatemia and angioid streaks of the retina.

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5.

Topaz O et al. (2004) Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.

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6.

Frishberg Y et al. (2005) Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders.

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7.

Ichikawa S et al. (2005) A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive.

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8.

Specktor P et al. (2006) Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred.

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9.

Ichikawa S et al. (2006) Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene.

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10.

Ichikawa S et al. (2010) Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.

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11.

Ichikawa S et al. (2007) A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis.

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12.

Abbud Y et al. (1979) Scintiscans of two siblings with tumoral calcinosis.

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13.

Pursley TV et al. (1979) Cutaneous manifestations of tumoral calcinosis.

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14.

None (1978) Tumoral calcinosis. A clinical and pathological study of eleven unreported cases in Turkey.

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15.

Wilson MP et al. (1989) Hyperphosphatemia associated with cortical hyperostosis and tumoral calcinosis.

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16.

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21.

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23.

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24.

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25.

McClatchie S et al. (1969) Tumoral calcinosis--an unrecognized disease.

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26.

None () [A familial form of lipocalcigranulomatosis with arterial calcinosis].

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27.

None (1966) Tumoural calcinosis.

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None (1966) Calcifying collagenolysis (tumoural calcinosis).

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Harkess JW et al. (1967) Tumoral calcinosis. A report of six cases.

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30.

Mitnick PD et al. (1980) Calcium and phosphate metabolism in tumoral calcinosis.

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31.

Mikati MA et al. (1981) The syndrome of hyperostosis and hyperphosphatemia.

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32.

Clarke E et al. (1984) Tumoral calcinosis, diaphysitis, and hyperphosphatemia.

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33.

Zerwekh JE et al. (1980) Tumoral calcinosis: evidence for concurrent defects in renal tubular phosphorus transport and in 1 alpha,25-dihydroxycholecalciferol synthesis.

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34.

Prince MJ et al. (1982) Hyperphosphatemic tumoral calcinosis: association with elevation of serum 1,25-dihydroxycholecalciferol concentrations.

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35.

Chausmer A et al. (1982) Phosphate depletion therapy in two ectopic calcification syndromes.

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36.

Balachandran S et al. (1980) Tumoral calcinosis: scintigraphic studies of an affected family.

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37.

None (1997) Hyperostosis with hyperphosphatemia: evidence of familial occurrence and association with tumoral calcinosis.

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38.

Adams WM et al. (1999) Familial tumoral calcinosis: association with cerebral and peripheral aneurysm formation.

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39.

BARTON DL et al. (1961) Tumoral calcinosis. Report of three cases and review of the literature.

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40.

ALTMAN HS et al. (1961) Chronic polyostotic periostitis of unknown etiology.

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41.

Benet-Pagès A et al. (2005) An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.

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42.

Chefetz I et al. (2005) A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification.

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43.

Goldbloom RB et al. (1966) Idiopathic periosteal hyperostosis with dysproteinemia. A new clinical entity.

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44.

OMIM.ORG article

Omim 211900 [^]
Update: April 29, 2019