Ehlers-danlos syndrome, classic type, 1

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

Symbol : EDSCL1;

CISMeF acronym : EDSCL1; EDS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ehlers-danlos syndrome, gravis type; Eds I; EDS1; Ehlers-danlos syndrome, type I; Ehlers-danlos syndrome, severe classic type;

Description : The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility (Beighton, 1993). In the Villefranche classification of EDS (Beighton et al., 1998), 6 main descriptive types were substituted for earlier types numbered with Roman numerals: classic type (EDS I and EDS II, 130010), hypermobility type (EDS III, 130020), vascular type (EDS IV, 130050), kyphoscoliosis type (EDS VI, 225400), arthrochalasia type (EDS VIIA and VIIB, 130060), and dermatosparaxis type (EDS VIIC, 225410). Six other forms were listed, including a category of 'unspecified forms.' Major and minor diagnostic criteria were defined for each type and complemented whenever possible with laboratory findings. The main features of classic Ehlers-Danlos syndrome (EDS I and EDS II) are loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars (Beighton, 1993). In EDS I, skin involvement is marked and joint laxity is generalized and gross, with musculoskeletal deformity and diverse orthopedic complications. Prematurity occurs in approximately 50% of cases. Internal complications such as aortic and bowel rupture may occasionally occur. EDS II has all the stigmata of EDS I, but to a minor degree, and some patients may easily remain undiagnosed (summary by Steinmann et al., 2002).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the collagen V, alpha-1 polypeptide gene (COL5A1, 120215.0002); Caused by mutation in the collagen V, alpha-2 polypeptide gene (COL5A2, 120190.0001);

Prefixed ID : #130000;

Details

Origin ID

130000;

UMLS CUI

C0268335;

Automatic exact mappings (from CISMeF team)
- COL5A1 wt Allele [NCIt concept]
- Energy Dispersive Spectroscopy [NCIt concept]
Broader ORDO disease(s)
- Classical Ehlers-Danlos syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Ehlers Danlos syndrome type I [Disease (Nov.)]
- Ehlers-Danlos Syndrome, Type I [NCIt concept]
- Ehlers-Danlos syndrome classic type 1 [DO Concept]
- Ehlers-Danlos syndrome type 1 [ICD-11 More detail]
- Ehlers-Danlos syndrome type 1 [MeSH concept]
- Ehlers-Danlos syndrome type 1 [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome type 1 [ORDO Disease]
- Ehlers-Danlos syndrome, type 1 (disorder) [SNOMED CT concept]
- ehlers-danlos syndrome, type 1 [SNOMED Notion]
DO Cross reference
- Ehlers-Danlos syndrome classic type 1 [DO Concept]
Genes related to phenotype
- Collagen, type V, alpha-1 [OMIM gene]
HPO term(s)
- Aortic root aneurysm [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blue sclerae [HPO term]
- Bowel diverticulosis [HPO term]
- Bruising susceptibility [HPO term]
- Cigarette-paper scars [HPO term]
- Ectopia lentis [HPO term]
- Epicanthus [HPO term]
- Fragile skin [HPO term]
- Hemoptysis [HPO term]
- Hyperextensibility at elbow [HPO term]
- Hyperextensibility of the finger joints [HPO term]
- Hyperextensibility of the knee [HPO term]
- Hyperextensible skin [HPO term]
- Infantile muscular hypotonia [HPO term]
- Inguinal hernia [HPO term]
- Irregularly spaced teeth [HPO term]
- Joint dislocation [HPO term]
- Joint hypermobility [HPO term]
- Lop ear [HPO term]
- Mitral valve prolapse [HPO term]
- Molluscoid pseudotumors [HPO term]
- Myopia [HPO term]
- Narrow maxilla [HPO term]
- Osteoarthritis [HPO term]
- Pectus excavatum [HPO term]
- Pes planus [HPO term]
- Poor wound healing [HPO term]
- Premature birth following premature rupture of fetal membranes [HPO term]
- Recurrent lower respiratory tract infections [HPO term]
- Recurrent sinusitis [HPO term]
- Short stature [HPO term]
- Soft skin [HPO term]
- Subcutaneous spheroids [HPO term]
- Umbilical hernia [HPO term]
ORDO concept(s)
- Classical Ehlers-Danlos syndrome [ORDO Disease]
- Ehlers-Danlos syndrome type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ehlers-Danlos Syndrome, Type I [NCIt concept]
- Ehlers-Danlos syndrome classic type (disorder) [SNOMED CT concept]
- Ehlers-Danlos syndrome classic type 1 [DO Concept]
- Ehlers-Danlos syndrome type 1 [MeSH concept]
- Ehlers-Danlos syndrome type 1 [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome type 1 [ORDO Disease]
- Ehlers-Danlos syndrome, type 1 (disorder) [SNOMED CT concept]
- ehlers-danlos syndrome, type 1 [SNOMED Notion]
Validated automatic mappings to NTBT
- Classical Ehlers-Danlos syndrome [ORDO Disease]

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