Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Tartrat-resistente saure Phosphatase Typ 5

Das ACP5-Gen kodiert die wichtigste saure Phosphatase. Mutationen führen zur autosomal rezessiven Spondyloenchondrodysplasie, bei welcher es neben Skelettveränderungen auch zu Störungen des Immunsystems kommt.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Spondyloenchondrodysplasie mit Immundysregulation
ACP5

Referenzen:

1.

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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2.

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

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3.

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

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4.

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

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5.

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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6.

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

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7.

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

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8.

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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9.

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

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10.

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

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11.

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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12.

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

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13.

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

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14.

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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15.

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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16.

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

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17.

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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18.

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

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Update: 17. Oktober 2019