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Article

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.

Nature genetics - 1 Feb 2011

Lausch Ekkehart, Janecke Andreas, Bros Matthias, Trojandt Stefanie, Alanay Yasemin, De Laet Corinne, Hübner Christian A, Meinecke Peter, Nishimura Gen, Matsuo Mari, Hirano Yoshiko, Tenoutasse Sylvie, Kiss Andrea, Rosa Rafael Fabiano Machado, Unger Sharon L, Renella Raffaele, Bonafé Luisa, Spranger Jürgen, Unger Sheila, Zabel Bernhard, Superti-Furga Andrea

Abstract excerpt

Vertebral and metaphyseal dysplasia, spasticity with cerebral calcifications, and strong predisposition to autoimmune diseases are the hallmarks of the genetic disorder spondyloenchondrodysplasia. We mapped a locus in five consanguineous families to chromosome 19p13 and identified mutations in AC...

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Source

Identifiers

PMID: 21217752
DOI: 10.1038/ng.749

Genes

ACP5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21217752-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.PMID 21217752Read ↗

Tartrate-Resistant Acid Phosphatase Deficiency in the Predisposition to Systemic Lupus Erythematosus.Semantic proximity Read ↗

Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene.Semantic proximity Read ↗

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature.Semantic proximity Read ↗

Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.Semantic proximity Read ↗

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.Semantic proximity Read ↗

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Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family.Semantic proximity Read ↗

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