Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Osteopetrosis

Osteopetrosis is an inborn error of skeletal development and regulation of bone formation and resorption which results in generalized sclerosis and hardening of the bone. Because this process drives out the bone marrow, anaemia and extra-medullar haematopoiesis results, also splenomegaly.

Systematic

Metabolic bone disease
Hereditary Rickets
Inherited human diseases of heterotopic bone formation
Osteopetrosis
Autosomal dominant osteopetrosis 1
LRP5
Autosomal dominant osteopetrosis 2
CLCN7
Autosomal recessive osteopetrosis 4
CLCN7
Autosomal recessive osteopetrosis 7
TNFRSF11A
Combined renal tubular acidosis 3 with osteopetrosis 3
CA2
Osteoporosis/renal Osteodystrophy
Pseudohypoparathyroidism

References:

1.

None () Recent progress in the molecular genetics of sclerosing bone dysplasias.

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2.

Kocher MS et al. (2003) Osteopetrosis.

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3.

None (2003) Osteoclast diseases.

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4.

Teitelbaum SL et al. (2003) Genetic regulation of osteoclast development and function.

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5.

Kasow KA et al. (2004) Malignant infantile osteopetrosis and primary pulmonary hypertension: a new combination?

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6.

Mohn A et al. (2004) Autosomal malignant osteopetrosis. From diagnosis to therapy.

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7.

Susani L et al. (2004) TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA.

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8.

Shah GN et al. (2004) Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation.

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9.

Chu K et al. (2005) Analysis of variation in expression of autosomal dominant osteopetrosis type 2: searching for modifier genes.

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10.

Schmitz G et al. (2006) Pharmacogenomics of cholesterol-lowering therapy.

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11.

Kornak U et al. (2006) Polymorphisms in the CLCN7 gene modulate bone density in postmenopausal women and in patients with autosomal dominant osteopetrosis type II.

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12.

Pangrazio A et al. (2006) Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement.

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13.

Orphanet article

Orphanet ID 2781 [^]
14.

OMIM.ORG article

Omim 259700 [^]
15.

Wikipedia article

Wikipedia EN (Osteopetrosis) [^]
Update: May 10, 2019