Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Familial tumoral calcinosis

Familial tumoral calcinosis is aa group of autosomal recessive disorders characterized by tumor calcifications.

Systematic

Inherited disorders of calcium balance
Familial hypocalciuric hypercalcemia type 1
Familial hypocalciuric hypercalcemia type 2
Familial hypocalciuric hypercalcemia type 3
Familial tumoral calcinosis
Familial normophosphatemic tumoral calcinosis
SAMD9
Hyperphosphatemic familial tumoral calcinosis
FGF23
GALNT3
KL
Hypophosphatasia
Infantile hypercalcemia

References:

1.

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

external link
2.

Altman HS et al. (1971) Cortical hyperostosis with hyperphosphatemia.

external link
3.

James AE et al. (1969) Roentgen findings in pseudoxanthoma elasticum (PXE).

external link
4.

Melhem RE et al. (1970) Cortical hyperostosis with hyperphosphatemia: a new syndrome?

external link
5.

Najjar SS et al. (1968) Tumoral calcinosis and pseudoxanthoma elasticum.

external link
6.

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

external link
7.

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

external link
8.

None (1966) Tumoural calcinosis.

external link
9.

None (1966) Calcifying collagenolysis (tumoural calcinosis).

external link
10.

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

external link
11.

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

external link
12.

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

external link
13.

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

external link
14.

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

external link
15.

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

external link
16.

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

external link
17.

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

external link
18.

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

external link
19.

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

external link
20.

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

external link
21.

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

external link
22.

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

external link
23.

Davies M et al. (1987) Tumoral calcinosis: clinical and metabolic response to phosphorus deprivation.

external link
24.

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

external link
25.

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

external link
26.

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

external link
27.

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

external link
28.

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

external link
29.

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

external link
30.

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

external link
31.

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.

external link
32.

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

external link
33.

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

external link
34.

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

external link
35.

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

external link
36.

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

external link
37.

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

external link
38.

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

external link
39.

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

external link
40.

Witcher SL et al. (1989) Tumoral calcinosis with unusual dental radiographic findings.

external link
41.

Gregosiewicz A et al. (1989) Tumoral calcinosis: successful medical treatment. A case report.

external link
42.

Talab YA et al. () Hyperostosis with hyperphosphatemia: a case report and review of the literature.

external link
43.

Mozaffarian G et al. (1972) Treatment of tumoral calcinosis with phosphorus deprivation.

external link
44.

OMIM.ORG article

Omim 211900 external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits