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 |
Verknüpfte Erkrankungen:
Referenzen:
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: 14. August 2020