Disorders of immune dysregulation

Gene: ACP5

Green List (high evidence)

ACP5 (acid phosphatase 5, tartrate resistant)
EnsemblGeneIds (GRCh38): ENSG00000102575
EnsemblGeneIds (GRCh37): ENSG00000102575
OMIM: 171640, Gene2Phenotype
ACP5 is in 8 panels

2 reviews

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency.

Multiple reports in literature. Well established disease gene.
Created: 27 Jan 2022, 12:39 a.m. | Last Modified: 27 Jan 2022, 12:39 a.m.
Panel Version: 0.10795

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
spondyloenchondrodysplasia with immune dysregulation, OMIM# 607944

Publications

Variants in this GENE are reported as part of current diagnostic practice

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Sources: Expert list
Created: 5 Apr 2020, 9:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondyloenchondrodysplasia with immune dysregulation, MIM# 607944; Short stature; SLE, thrombocytopenia and autoimmune haemolytic anaemia; Possibly recurrent bacterial and viral infections

Publications

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
OMIM
171640
Clinvar variants
Variants in ACP5
Penetrance
None
Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ACP5 was added gene: ACP5 was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: ACP5 was set to Unknown