Ehlers-danlos syndrome, hypermobility type

Preferred Label : Ehlers-danlos syndrome, hypermobility type;

Symbol : EDSHMB;

CISMeF acronym : EDSHMB; EDS3;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Benign hypermobility syndrome; EDS3; Eds III; Ehlers-danlos syndrome, type III;

Description : The Ehlers-Danlos syndrome shows phenotypic and genetic heterogeneity; see 130000. According to the original Beighton classification (Beighton, 1970), EDS III is the benign hypermobility syndrome. Marked joint hyperextensibility without skeletal deformity dominates the clinical picture. Skin manifestations are relatively inconspicuous. Differentiation from familial joint laxity (147900) is often uncertain. 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 tenascin XB gene (TNXB, 600985.0001);

Prefixed ID : %130020;

Details

Origin ID

130020;

UMLS CUI

C0268337;

Automatic exact mappings (from CISMeF team)
- Ehlers-Danlos syndrome, hypermobile type [ICD-11 More detail]
- Energy Dispersive Spectroscopy [NCIt concept]
Currated CISMeF NLP mapping
- Ehlers Danlos syndrome type III [Disease (Nov.)]
- Ehlers-Danlos Syndrome, Type III [NCIt concept]
- Ehlers-Danlos syndrome hypermobility type [DO Concept]
- Ehlers-Danlos syndrome type 3 [MeSH concept]
- Ehlers-Danlos syndrome type 3 [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome type III [MedDRA LLT]
- Hypermobile Ehlers-Danlos syndrome [ORDO Disease]
- Hypermobile Ehlers-Danlos syndrome (disorder) [SNOMED CT concept]
- ehlers-danlos syndrome, type 3 [SNOMED Notion]
DO Cross reference
- Ehlers-Danlos syndrome hypermobility type [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hyperextensible skin [HPO term]
- Joint dislocation [HPO term]
- Joint hypermobility [HPO term]
- Joint laxity [HPO term]
- Mitral valve prolapse [HPO term]
- Osteoarthritis [HPO term]
- Soft skin [HPO term]
- Striae distensae [HPO term]
Not associated HPO term(s)
- Scarring [HPO term]
ORDO concept(s)
- Hypermobile Ehlers-Danlos syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ehlers Danlos syndrome type III [Disease (Nov.)]
- Ehlers-Danlos Syndrome, Type III [NCIt concept]
- Ehlers-Danlos syndrome hypermobility type [DO Concept]
- Ehlers-Danlos syndrome type 3 [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome type 3 [MeSH concept]
- Ehlers-Danlos syndrome type III [MedDRA LLT]
- Hypermobile Ehlers-Danlos syndrome [ORDO Disease]
- Hypermobile Ehlers-Danlos syndrome (disorder) [SNOMED CT concept]
- ehlers-danlos syndrome, type 3 [SNOMED Notion]

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