KEGG   DISEASE: Spondyloenchondrodysplasia with immune dysregulation (SPENCDI)
Entry
H01576                      Disease                                

Name
Spondyloenchondrodysplasia with immune dysregulation (SPENCDI);
Spondyloenchondrodysplasia (SPENCD)
Description
Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an autosomal recessive skeletal dysplasia, characterised by radiolucent metaphyseal and vertebral lesions. Patients may exhibit varying degrees of neurological impairment including spasticity, developmental delay, and basal ganglia calcification. In addition, signs of autoimmune disease resembling systemic lupus erythematosus (SLE) are commonly observed. Furthermore, patients may also suffer from recurrent infections. SPENCD is caused by biallelic mutations in ACP5, encoding tartrate-resistant acid phosphatase (TRAP). Affected individuals displayed an absence of TRAP serum expression and, in keeping with autoimmune manifestations, increased levels of serum interferon-alpha (IFNalpha) and an upregulation of interferon-stimulated genes (ISGs).
Category
Immune system disease; Musculoskeletal disease
Brite
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Skeletal diseases
   H01576  Spondyloenchondrodysplasia with immune dysregulation (SPENCDI)
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H01576  Spondyloenchondrodysplasia with immune dysregulation (SPENCDI)
Gene
ACP5 [HSA:54] [KO:K14379]
Other DBs
ICD-11: LD24.3
MeSH: C564307
OMIM: 607944
Reference
  Authors
Briggs TA, Rice GI, Adib N, Ades L, Barete S, Baskar K, Baudouin V, Cebeci AN, Clapuyt P, Coman D, De Somer L, Finezilber Y, Frydman M, Guven A, Heritier S, Karall D, Kulkarni ML, Lebon P, Levitt D, Le Merrer M, Linglart A, Livingston JH, Navarro V, Okenfuss E, Puel A, Revencu N, Scholl-Burgi S, Vivarelli M, Wouters C, Bader-Meunier B, Crow YJ
  Title
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.
  Journal
J Clin Immunol 36:220-34 (2016)
DOI:10.1007/s10875-016-0252-y
Reference
  Authors
Lausch E, Janecke A, Bros M, Trojandt S, Alanay Y, De Laet C, Hubner CA, Meinecke P, Nishimura G, Matsuo M, Hirano Y, Tenoutasse S, Kiss A, Rosa RF, Unger SL, Renella R, Bonafe L, Spranger J, Unger S, Zabel B, Superti-Furga A
  Title
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.
  Journal
Nat Genet 43:132-7 (2011)
DOI:10.1038/ng.749
Reference
  Authors
Girschick H, Wolf C, Morbach H, Hertzberg C, Lee-Kirsch MA
  Title
Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene.
  Journal
Pediatr Rheumatol Online J 13:37 (2015)
DOI:10.1186/s12969-015-0035-7

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