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GTR Home > Conditions/Phenotypes > Ehlers-Danlos syndrome, dermatosparaxis type

Ehlers-Danlos syndrome, dermatosparaxis type

Synonyms
Dermatosparaxis; EDS VIIC; Ehlers-Danlos Syndrome Type VIIC; Ehlers-Danlos syndrome type 7C (formerly); Ehlers-Danlos syndrome, type VII, autosomal recessive
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

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]

Available tests

84 tests are in the database for this condition.

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Clinical tests (84 available)

Biochemical Genetics Tests

Molecular Genetics Tests

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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Imported from Human Phenotype Ontology (HPO)

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