Ehlers-danlos syndrome, arthrochalasia type, 1

Preferred Label : Ehlers-danlos syndrome, arthrochalasia type, 1;

Symbol : EDSARTH1;

CISMeF acronym : EDSARTH1; EDS7A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Eds viia; Ehlers-danlos syndrome, type viia, autosomal dominant; Eds VII, mutant procollagen type; Arthrochalasis multiplex congenita; EDS7A;

Description : EDS type VII is distinguished from the other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement (Byers et al., 1997; Giunta et al., 2008). 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 dominant;

Molecular basis : Caused by mutation in the collagen I, alpha-1 polypeptide gene (COL1A1, 120150.0026);

Prefixed ID : #130060;

Details

Origin ID

130060;

UMLS CUI

C4551623;

Automatic exact mappings (from CISMeF team)
- Ehlers-Danlos syndrome arthrochalasia type 1 [DO Concept]
- Ehlers-Danlos syndrome type 7A [ORDO Disease]
- Ehlers-Danlos syndrome type 7B [ORDO Disease]
- Ehlers-Danlos syndrome, arthrochalasic type [ICD-11 More detail]
Currated CISMeF NLP mapping
- Arthrochalasia Ehlers-Danlos syndrome [ORDO Disease]
- Ehlers Danlos syndrome type VII [Disease (Nov.)]
- Ehlers-Danlos Syndrome, Type VII [NCIt concept]
- Ehlers-Danlos syndrome, procollagen proteinase deficient (disorder) [SNOMED CT concept]
- Ehlers-Danlos syndrome, type VII, autosomal dominant [MeSH concept]
- Ehlers-Danlos syndrome, type VII, autosomal dominant [MeSH Supplementary Concept]
- ehlers-danlos syndrome, procollagen proteinase deficient [SNOMED Notion]
DO Cross reference
- Ehlers-Danlos syndrome arthrochalasia type 1 [DO Concept]
Genes related to phenotype
- Collagen, type I, alpha-1 [OMIM gene]
HPO term(s)
- Atrophic scars [HPO term]
- Autosomal dominant inheritance [HPO term]
- Breech presentation [HPO term]
- Bruising susceptibility [HPO term]
- Congenital bilateral hip dislocation [HPO term]
- Delayed gross motor development [HPO term]
- Generalized hypotonia [HPO term]
- Hyperextensible skin [HPO term]
- Hypotonia [HPO term]
- Increased susceptibility to fractures [HPO term]
- Joint laxity [HPO term]
- Joint subluxation [HPO term]
- Kyphosis [HPO term]
- Malar flattening [HPO term]
- Midface retrusion [HPO term]
- Mild short stature [HPO term]
- Mild to moderate short stature [HPO term]
- Osteopenia [HPO term]
- Poor wound healing [HPO term]
- Premature osteoarthritis [HPO term]
- Scoliosis [HPO term]
- Soft skin [HPO term]
ORDO concept(s)
- Arthrochalasia Ehlers-Danlos syndrome [ORDO Disease]
- Ehlers-Danlos syndrome type 7A [ORDO Disease]
- Ehlers-Danlos syndrome type 7B [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arthrochalasia Ehlers-Danlos syndrome [ORDO Disease]
- Ehlers Danlos syndrome type VII [Disease (Nov.)]
- Ehlers-Danlos Syndrome, Type VII [NCIt concept]
- Ehlers-Danlos syndrome type 7A [ORDO Disease]
- Ehlers-Danlos syndrome, procollagen proteinase deficient (disorder) [SNOMED CT concept]
- Ehlers-Danlos syndrome, type VII, autosomal dominant [MeSH concept]
- Ehlers-Danlos syndrome, type VII, autosomal dominant [MeSH Supplementary Concept]
- ehlers-danlos syndrome, procollagen proteinase deficient [SNOMED Notion]

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