Ehlers-Danlos syndrome, procollagen proteinase deficient

MedGen UID:: 78662
•Concept ID:: C0268345
•: Disease or Syndrome

Synonyms:

Arthrochalasia multiplex congenita; Arthrochalasis multiplex congenita; Ehlers-Danlos syndrome type 7; Ehlers-Danlos syndrome, autosomal recessive type 7; Ehlers-Danlos Syndrome, Type VII; Procollagen aminoprotease deficiency; Procollagen peptidase deficiency; Procollagen protease deficiency

SNOMED CT:

Arthrochalasia multiplex congenita (55711009); Ehlers-Danlos syndrome type 7 (55711009); Ehlers-Danlos syndrome, procollagen proteinase deficient (55711009); Ehlers-Danlos syndrome, autosomal recessive type 7 (55711009); Procollagen peptidase deficiency (55711009); Procollagen protease deficiency (55711009); Arthrochalasis multiplex congenita (55711009); Procollagen aminoprotease deficiency (55711009)

Definition

Ehlers-Danlos syndrome, type VII includes the arthrochalasia type (types VIIA and VIIB) Ehlers-Danlos syndrome, and the dermatosparaxis type (type VIIC) Ehlers-Danlos syndrome. The arthrochalasia type Ehlers-Danlos syndrome is caused by mutations in the COL1A1 gene or the COL1A2 gene. The dermatosparaxis type Ehlers-Danlos syndrome is caused by mutations in the ADAMTS2 gene. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVEhlers-Danlos syndrome, procollagen proteinase deficient

Phenotypic abnormality
- Abnormality of the integument
  - Abnormality of the skin
    - Ehlers-Danlos syndrome
      - Ehlers-Danlos syndrome, procollagen proteinase deficient

Recent clinical studies

Etiology

The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC).

Malfait F, De Coster P, Hausser I, van Essen AJ, Franck P, Colige A, Nusgens B, Martens L, De Paepe A
Am J Med Genet A 2004 Nov 15;131(1):18-28. doi: 10.1002/ajmg.a.30299. PMID: 15389701

The Ehlers-Danlos syndromes.

Yeowell HN, Pinnell SR
Semin Dermatol 1993 Sep;12(3):229-40. PMID: 8217561

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Clinical prediction guides

cDNA cloning and expression of bovine procollagen I N-proteinase: a new member of the superfamily of zinc-metalloproteinases with binding sites for cells and other matrix components.

Colige A, Li SW, Sieron AL, Nusgens BV, Prockop DJ, Lapière CM
Proc Natl Acad Sci U S A 1997 Mar 18;94(6):2374-9. doi: 10.1073/pnas.94.6.2374. PMID: 9122202 Free PMC Article

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Ehlers-Danlos syndrome, procollagen proteinase deficient

Definition

Term Hierarchy

Recent clinical studies

Etiology

Clinical prediction guides

Supplemental Content

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