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Autosomal dominant osteopetrosis 2

Autosomal dominant osteopetrosis 2 is caused by a deficient chloride channel. Mutations are found in the CLCN7 gene.

Systematic

Osteopetrosis
Autosomal dominant osteopetrosis 1
Autosomal dominant osteopetrosis 2
CLCN7
Autosomal recessive osteopetrosis 4
Autosomal recessive osteopetrosis 7
Combined renal tubular acidosis 3 with osteopetrosis 3

References:

1.

Bénichou O et al. (2001) Mapping of autosomal dominant osteopetrosis type II (Albers-Schönberg disease) to chromosome 16p13.3.

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2.

None (1949) Osteopetrosis in successive generations.

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3.

Del Fattore A et al. (2008) A new heterozygous mutation (R714C) of the osteopetrosis gene, pleckstrin homolog domain containing family M (with run domain) member 1 (PLEKHM1), impairs vesicular acidification and increases TRACP secretion in osteoclasts.

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4.

Waguespack SG et al. (2007) Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation.

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5.

None (1961) Osteopetrosis: review of dominant cases and frequency in a Brazilian state.

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6.

None (1959) Facial paralysis associated with osteopetrosis (marble bones); report of a case of the syndrome occurring in five generations of the same family.

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7.

Waguespack SG et al. (2002) Measurement of tartrate-resistant acid phosphatase and the brain isoenzyme of creatine kinase accurately diagnoses type II autosomal dominant osteopetrosis but does not identify gene carriers.

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8.

Bénichou OD et al. (2000) Type II autosomal dominant osteopetrosis (Albers-Schönberg disease): clinical and radiological manifestations in 42 patients.

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9.

White KE et al. (1999) Locus heterogeneity of autosomal dominant osteopetrosis (ADO).

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10.

Manzke E et al. (1982) Skeletal remodelling and bone related hormones in two adults with increased bone mass.

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11.

Key L et al. (1984) Treatment of congenital osteopetrosis with high-dose calcitriol.

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12.

Johnston CC et al. (1968) Osteopetrosis. A clinical, genetic, metabolic, and morphologic study of the dominantly inherited, benign form.

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13.

Hiroyama Y et al. () Creatine kinase brain isoenzyme in infantile osteopetrosis.

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14.

Yoneyama T et al. (1989) Elevated levels of creatine kinase BB isoenzyme in three patients with adult osteopetrosis.

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15.

Walpole IR et al. (1990) Autosomal dominant osteopetrosis type II with "malignant" presentation: further support for heterogeneity?

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16.

Bollerslev J et al. (1993) Autosomal dominant osteopetrosis.

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17.

Andersen PE et al. (1987) Heterogeneity of autosomal dominant osteopetrosis.

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18.

Bollerslev J et al. (1988) Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis.

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19.

Cleiren E et al. (2001) Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene.

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20.

Yoneyama T et al. (1992) Elevated serum levels of creatine kinase BB in autosomal dominant osteopetrosis type II--a family study.

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21.

OMIM.ORG article

Omim 166600 external link
Update: Aug. 14, 2020
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