|
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Biallelic ADAMTS2 mutations have caused a type of Ehlers Danlos syndrome known as dermatosparaxis in other species.
|
31294848 |
2019 |
|
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The Ehlers-Danlos syndrome (EDS), dermatosparaxis type, is a recessively inherited connective tissue disorder caused by deficient activity of ADAMTS-2, an enzyme that cleaves the aminoterminal propeptide domain of types I, II, and III procollagen.
|
26765342 |
2016 |
|
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
Dermatosparaxis (Ehlers-Danlos type VIIC): prenatal diagnosis following a previous pregnancy with unexpected skull fractures at delivery.
|
23495203 |
2013 |
|
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Multiple congenital skull fractures as a presentation of Ehlers-Danlos syndrome type VIIC.
|
18973246 |
2008 |
|
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
|
0.760 |
AlteredExpression
|
disease |
BEFREE |
Although Adamts14 lacked developmental tissue-specific expression, it was co-expressed with Adamts2 in mature dermis, which possibly explains the presence of some processed skin procollagen in dermatosparaxis.
|
16556917 |
2006 |
|
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC).
|
15389701 |
2004 |
|
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
|
0.760 |
AlteredExpression
|
disease |
BEFREE |
Ehlers-Danlos syndrome (EDS) dermatosparaxis type (type VIIC) and the related disease of cattle dermatosparaxis, are recessively inherited connective tissue disorders, caused by a deficient activity of procollagen I N-proteinase, the enzyme that excises the N-terminal propeptide in procollagen type I, type II, and type III.
|
15389701 |
2004 |
|
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
The metalloproteinase ADAMTS-2 has procollagen I N-proteinase activity capable of cleaving procollagens I and II N-propeptides in vitro, whereas mutations in the ADAMTS-2 gene in dermatosparaxis and Ehlers-Danlos syndrome VIIC show this enzyme to be responsible in vivo for most biosynthetic processing of procollagen I N-propeptides in skin.
|
12646579 |
2003 |
|
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
|
0.760 |
Biomarker
|
disease |
BEFREE |
Null mutations in procollagen I N-propeptidase (ADAMTS-2) cause dermatosparaxis in cattle and the Ehlers-Danlos syndrome (dermatosparactic type) in humans by preventing proteolytic excision of the N-propeptide of procollagen I.
|
11408482 |
2001 |
|
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
|
0.760 |
GermlineCausalMutation
|
disease |
ORPHANET |
Like the animal model dermatosparaxis, EDS type VIIC results from the absence of activity of procollagen I N-proteinase (pNPI), the enzyme that excises the N-propeptide of type I and type II procollagens.
|
10417273 |
1999 |
|
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
Like the animal model dermatosparaxis, EDS type VIIC results from the absence of activity of procollagen I N-proteinase (pNPI), the enzyme that excises the N-propeptide of type I and type II procollagens.
|
10417273 |
1999 |
|
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Like the animal model dermatosparaxis, EDS type VIIC results from the absence of activity of procollagen I N-proteinase (pNPI), the enzyme that excises the N-propeptide of type I and type II procollagens.
|
10417273 |
1999 |
|
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
These data provide direct evidence that EDS type VIIC and dermatosparaxis result from mutations in the pNPI gene.
|
10417273 |
1999 |
|
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Like the animal model dermatosparaxis, EDS type VIIC results from the absence of activity of procollagen I N-proteinase (pNPI), the enzyme that excises the N-propeptide of type I and type II procollagens.
|
10417273 |
1999 |
|
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Clinical, morphological, and biochemical phenotype of a new case of Ehlers-Danlos syndrome type VIIC.
|
8986271 |
1997 |
|
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
The natural history of human dermatosparaxis (Ehlers-Danlos syndrome type VIIC).
|
7735500 |
1995 |
|
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Dermatosparaxis in children. A case report and review of the newly recognized phenotype.
|
8215497 |
1993 |
|
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen.
|
1642226 |
1992 |
|
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
|
0.760 |
Biomarker
|
disease |
CTD_human |
|
|
|