Autoinflammatory Disorders
Gene: ACP5
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
Sources: Expert listCreated: 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
Gene: acp5 has been classified as Green List (High Evidence).
Gene: acp5 has been classified as Green List (High Evidence).
gene: ACP5 was added gene: ACP5 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list Mode of inheritance for gene: ACP5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACP5 were set to 26951490; 21217755; 26789720; 26346816 Phenotypes for gene: ACP5 were set to Spondyloenchondrodysplasia with immune dysregulation, MIM# 607944; Short stature; SLE, thrombocytopenia and autoimmune haemolytic anaemia; Possibly recurrent bacterial and viral infections Review for gene: ACP5 was set to GREEN