Spondyloenchondrodysplasia with immune dysregulation

Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an inherited condition that primarily affects bone growth and immune system function. The signs and symptoms of SPENCDI can become apparent anytime from infancy to adolescence. Bone abnormalities in individuals with SPENCDI include flattened ...1

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Symptoms of Spondyloenchondrodysplasia with immune dysregulation

Clinical features: Imported from Human Phenotype Ontology (HPO)

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Genetics of Spondyloenchondrodysplasia with immune dysregulation

Genetic Changes: Mutations in the ACP5 gene cause SPENCDI. This gene provides instructions for making an enzyme called tartrate-resistant acid phosphatase type 5 (TRAP). The TRAP enzyme primarily regulates the activity of a protein called osteopontin, which is produced ...2

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Names and Terminology

Other Names for This Condition

Source: GHR (NLM/NIH)3 ...

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ spondyloenchondrodysplasia-with-immune-dysregulation
  2. ibid.
  3. ibid.

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