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Tartrate-resistant acid phosphatase type 5

The ACP5 gene encodes the most important acide phosphatase. Mutations cause autosomal recessive spondyloenchondrodysplasia which is charakterized by skeletal abnormalities and immunological disturbances.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Spondyloenchondrodysplasia with immune dysregulation
ACP5

References:

1.

None (1958) [A case of infantile generalized lupus erythematosus with unusual bone changes].

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2.

Briggs TA et al. (2016) Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.

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3.

Bilginer Y et al. (2016) Three cases of spondyloenchondrodysplasia (SPENCD) with systemic lupus erythematosus: a case series and review of the literature.

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4.

de Bruin C et al. (2016) Severe Short Stature in Two Siblings as the Presenting Sign of ACP5 Deficiency.

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5.

Girschick H et al. (2015) Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene.

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6.

Briggs TA et al. (2011) Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature.

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7.

Lausch E et al. (2011) Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.

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8.

Navarro V et al. (2008) Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulation.

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9.

Renella R et al. (2006) Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder.

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10.

Lord DK et al. (1990) Type 5 acid phosphatase. Sequence, expression and chromosomal localization of a differentiation-associated protein of the human macrophage.

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11.

Roifman CM et al. (2003) A novel syndrome of combined immunodeficiency, autoimmunity and spondylometaphyseal dysplasia.

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12.

Bune AJ et al. (2001) Mice lacking tartrate-resistant acid phosphatase (Acp 5) have disordered macrophage inflammatory responses and reduced clearance of the pathogen, Staphylococcus aureus.

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13.

Hayman AR et al. (1996) Mice lacking tartrate-resistant acid phosphatase (Acp 5) have disrupted endochondral ossification and mild osteopetrosis.

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14.

Grimes R et al. (1993) Assignment of the mouse tartrate-resistant acid phosphatase gene (Acp5) to chromosome 9.

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15.

Leach RJ et al. (1994) Confirmation of the assignment of the human tartrate-resistant acid phosphatase gene (ACP5) to chromosome 19.

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16.

Ketcham CM et al. (1989) Molecular cloning of the type 5, iron-containing, tartrate-resistant acid phosphatase from human placenta.

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17.

Allen BS et al. (1989) Localization of the human type 5, tartrate-resistant acid phosphatase gene by in situ hybridization.

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18.

Frydman M et al. (1990) Possible heterogeneity in spondyloenchondrodysplasia: quadriparesis, basal ganglia calcifications, and chondrocyte inclusions.

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Update: Aug. 14, 2020
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