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Familiäre hypocalciurische Hypercalciämie Typ 1

Die familiäre hypocalciurische Hypercalciämie Typ 1 ist eine autosomal dominanter Erkrankung, die durch aktivitätsmindernde Mutationen im Calcium-sensing Rezeptor entstehen.

Gliederung

Renale Störungen der Calciumhomöostase
Familiäre Tumorcalcinose
Familiäre hypocalciurische Hypercalciämie Typ 1
CASR
Familiäre hypocalciurische Hypercalciämie Typ 2
Familiäre hypocalciurische Hypercalciämie Typ 3
Hypophosphatasie
Infantile Hypercalciämie

Referenzen:

1.

Meeran K et al. (1994) Neonatal primary hyperparathyroidism masked by vitamin D deficiency.

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2.

Marx SJ et al. (1982) An association between neonatal severe primary hyperparathyroidism and familial hypocalciuric hypercalcemia in three kindreds.

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Marx SJ et al. (1981) The hypocalciuric or benign variant of familial hypercalcemia: clinical and biochemical features in fifteen kindreds.

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4.

Marx SJ et al. (1980) Familial hypocalciuric hypercalcemia: recognition among patients referred after unsuccessful parathyroid exploration.

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5.

None (1980) Familial hypocalciuric hypercalcemia.

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6.

Ho C et al. (1995) A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.

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7.

Aida K et al. (1995) Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene.

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Chou YH et al. (1995) Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia.

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9.

Finegold DN et al. (1994) Preliminary localization of a gene for autosomal dominant hypoparathyroidism to chromosome 3q13.

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10.

Pollak MR et al. (1994) Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation.

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11.

Pollak MR et al. (1993) Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.

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12.

Chikatsu N et al. (1999) An adult patient with severe hypercalcaemia and hypocalciuria due to a novel homozygous inactivating mutation of calcium-sensing receptor.

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13.

Pollak MR et al. (1994) Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype.

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14.

Brown EM et al. (1993) Cloning and characterization of an extracellular Ca(2+)-sensing receptor from bovine parathyroid.

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15.

None (1993) Mutations in G protein-linked receptors: novel insights on disease.

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16.

Heath H et al. (1993) Genetic linkage analysis in familial benign (hypocalciuric) hypercalcemia: evidence for locus heterogeneity.

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Janicic N et al. (1995) Mapping of the calcium-sensing receptor gene (CASR) to human chromosome 3q13.3-21 by fluorescence in situ hybridization, and localization to rat chromosome 11 and mouse chromosome 16.

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18.

Li Y et al. (1996) Autoantibodies to the extracellular domain of the calcium sensing receptor in patients with acquired hypoparathyroidism.

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20.

Marx SJ et al. (1977) Family studies in patients with primary parathyroid hyperplasia.

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21.

Bai M et al. (1997) In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia.

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22.

Bai M et al. (1997) Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.

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23.

Marx SJ et al. (1978) Divalent cation metabolism. Familial hypocalciuric hypercalcemia versus typical primary hyperparathyroidism.

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Kifor O et al. (2003) A syndrome of hypocalciuric hypercalcemia caused by autoantibodies directed at the calcium-sensing receptor.

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Pallais JC et al. (2004) Acquired hypocalciuric hypercalcemia due to autoantibodies against the calcium-sensing receptor.

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Rickels MR et al. (2004) Hypocalciuric hypercalcemia and autoantibodies against the calcium-sensing receptor.

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Miyashiro K et al. (2004) Severe hypercalcemia in a 9-year-old Brazilian girl due to a novel inactivating mutation of the calcium-sensing receptor.

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31.

Hannan FM et al. (2010) Comparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6 Mb containing four mouse calcium-sensing receptor-related sequences: relevance to familial benign hypocalciuric hypercalcaemia type 3.

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33.

Lyons J et al. (1990) Two G protein oncogenes in human endocrine tumors.

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35.

Law WM et al. (1985) Familial benign hypercalcemia (hypocalciuric hypercalcemia). Clinical and pathogenetic studies in 21 families.

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36.

Foley TP et al. (1972) Familial benign hypercalcemia.

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37.

Goldbloom RB et al. (1972) Hereditary parathyroid hyperplasia: a surgical emergency of early infancy.

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38.

Dezateux CA et al. (1984) Neonatal hyperparathyroidism.

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39.

Davies M et al. (1984) Familial hypocalciuric hypercalcaemia: evidence for continued enhanced renal tubular reabsorption of calcium following total parathyroidectomy.

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40.

None (1984) Familial benign hypercalcemia: nature's solution to neonatal hyperparathyroidism?

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41.

Steinmann B et al. (1984) Neonatal severe primary hyperparathyroidism and alkaptonuria in a boy born to related parents with familial hypocalciuric hypercalcemia.

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42.

Menko FH et al. (1984) Familial benign hypercalcaemia (FBH; McK. No. 14598, 1983): linkage studies in a large Dutch family.

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43.

Marx SJ et al. (1982) Familial hypocalciuric hypercalcemia: the relation to primary parathyroid hyperplasia.

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44.

OMIM.ORG article

Omim 145980 external link
45.

Orphanet article

Orphanet ID 93372 external link
Update: 14. August 2020
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