GTR Home > Conditions/Phenotypes > Ehlers-Danlos syndrome, type vii, autosomal recessive

Summary

Dermatosparaxis (meaning 'tearing of skin') is an autosomal recessive disorder of connective tissue resulting from deficiency of procollagen peptidase, an enzyme that aids in the processing of type I procollagen. The disorder and the responsible biochemical defect was first observed in cattle (Lapiere et al., 1971). Lapiere and Nusgens (1993) reviewed the discovery of dermatosparaxis in cattle, the elucidation of the disorder, its occurrence in other animals, and the delayed recognition of the disorder in the human. [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: ADAM-TS2, ADAMTS-2, ADAMTS-3, EDSDERMS, NPI, PC I-NP, PCI-NP, PCINP, PCPNI, PNPI, ADAMTS2
    Summary: ADAM metallopeptidase with thrombospondin type 1 motif 2

Clinical features

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