KEGG   DISEASE: Spondyloenchondrodysplasia with immune dysregulation (SPENCDI)
H01576                      Disease                                
Spondyloenchondrodysplasia with immune dysregulation (SPENCDI);
Spondyloenchondrodysplasia (SPENCD)
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).
Congenital malformation
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the musculoskeletal system
   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)
ACP5 [HSA:54] [KO:K14379]
Other DBs
ICD-11: LD24.3
MeSH: C564307
OMIM: 607944
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
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.
J Clin Immunol 36:220-34 (2016)
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
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.
Nat Genet 43:132-7 (2011)
Girschick H, Wolf C, Morbach H, Hertzberg C, Lee-Kirsch MA
Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene.
Pediatr Rheumatol Online J 13:37 (2015)

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