Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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.


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



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

external link

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

external link

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

external link

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

external link

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.

external link

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

external link

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

external link

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

external link

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

external link

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

external link

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

external link

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.

external link

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

external link

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

external link

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

external link

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

external link

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

external link

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

external link
Update: Aug. 14, 2020
Copyright © 2005-2022 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits