Ehlers-danlos syndrome, dermatosparaxis type

Preferred Label : Ehlers-danlos syndrome, dermatosparaxis type;

Symbol : EDSDERMS;

CISMeF acronym : EDSDERMS; EDS7C;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : DERMATOSPARAXIS; Eds viic; Ehlers-danlos syndrome, type VII, autosomal recessive; EDS7C;

Description : 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. Beighton et al. (1998) reported on a revised nosology of the Ehlers-Danlos syndromes, designated the Villefranche classification. Major and minor diagnostic criteria were defined for each type and complemented whenever possible with laboratory findings. Six main descriptive types were substituted for earlier types numbered with Roman numerals: classic type (EDS I and II), hypermobility type (EDS III), vascular type (EDS IV), kyphoscoliosis type (EDS VI), arthrochalasia type (EDS VIIA and VIIB), and dermatosparaxis type (EDS VIIC). Six other forms were listed, including a category of 'unspecified forms.';

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the procollagen I N-proteinase gene (ADAMTS2, 604539.0001);

Prefixed ID : #225410;

Details

Origin ID

225410;

UMLS CUI

C2700425;

Currated CISMeF NLP mapping
- Dermatosparaxis Ehlers-Danlos syndrome [ORDO Disease]
- Dermatosparaxis Ehlers-Danlos syndrome (disorder) [SNOMED CT concept]
- Ehlers-Danlos syndrome dermatosparaxis type [DO Concept]
- Ehlers-Danlos syndrome, dermatosparaxis type [ICD-11 More detail]
- Ehlers-Danlos syndrome, type VII, autosomal recessive [MeSH concept]
- Ehlers-Danlos syndrome, type VII, autosomal recessive [MeSH Supplementary Concept]
DO Cross reference
- Ehlers-Danlos syndrome dermatosparaxis type [DO Concept]
Genes related to phenotype
- A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 2 [OMIM gene]
HPO term(s)
- Abnormality of primary molar morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blepharochalasis [HPO term]
- Blue sclerae [HPO term]
- Bruising susceptibility [HPO term]
- Delayed closure of the anterior fontanelle [HPO term]
- Downslanted palpebral fissures [HPO term]
- Electron microscopic abnormality of the skin [HPO term]
- Epicanthus [HPO term]
- Everted lower lip vermilion [HPO term]
- Fragile skin [HPO term]
- Frontal open bite [HPO term]
- Gingival bleeding [HPO term]
- Gingival hyperkeratosis [HPO term]
- Gingival overgrowth [HPO term]
- Hirsutism [HPO term]
- Hypodontia [HPO term]
- Hypoplasia of the toes [HPO term]
- Inguinal hernia [HPO term]
- Joint laxity [HPO term]
- Limb undergrowth [HPO term]
- Micrognathia [HPO term]
- Micromelia [HPO term]
- Motor delay [HPO term]
- Myopia [HPO term]
- Osteopenia [HPO term]
- Premature birth [HPO term]
- Premature rupture of membranes [HPO term]
- Prominent lips [HPO term]
- Recurrent mandibular subluxations [HPO term]
- Redundant skin [HPO term]
- Short phalanx of finger [HPO term]
- Short stature [HPO term]
- Short toe [HPO term]
- Soft, doughy skin [HPO term]
- Spontaneous neonatal pneumothorax [HPO term]
- Thick vermilion border [HPO term]
- Umbilical hernia [HPO term]
- Wide anterior fontanel [HPO term]
Not associated HPO term(s)
- Poor wound healing [HPO term]
ORDO concept(s)
- Dermatosparaxis Ehlers-Danlos syndrome [ORDO Disease]
See also inter- (CISMeF)
- Ehlers-Danlos syndrome, procollagen proteinase deficient (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dermatosparaxis Ehlers-Danlos syndrome [ORDO Disease]
- Dermatosparaxis Ehlers-Danlos syndrome (disorder) [SNOMED CT concept]
- Ehlers-Danlos syndrome, dermatosparaxis type [ICD-11 More detail]
- Ehlers-Danlos syndrome, type VII, autosomal recessive [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome, type VII, autosomal recessive [MeSH concept]

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