Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Autosomal dominante Osteopetrose 2

Die autosomal dominante Osteopetrose 2 wird durch einen gestörten Chloridkanal ausgelöst. Die Mutationen finden sich im CLCN7-Gen.

Gliederung

Osteopetrose
Autosomal dominante Osteopetrose 1
Autosomal dominante Osteopetrose 2
CLCN7
Autosomal rezessive Osteopetrose 4
Autosomal rezessive Osteopetrose 7
Gemischte renale tubuläre Azidose 3 mit Osteopetrose 3

Referenzen:

1.

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

external link
2.

None (1949) Osteopetrosis in successive generations.

external link
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.

external link
4.

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

external link
5.

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

external link
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.

external link
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.

external link
8.

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

external link
9.

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

external link
10.

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

external link
11.

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

external link
12.

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

external link
13.

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

external link
14.

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

external link
15.

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

external link
16.

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

external link
17.

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

external link
18.

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

external link
19.

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

external link
20.

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

external link
21.

OMIM.ORG article

Omim 166600 external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz