hypermobile Ehlers-Danlos syndrome

URI: https://gptkb.org/entity/hypermobile_Ehlers-Danlos_syndrome

GPTKB entity

Statements (51)

Predicate	Object
gptkbp:instanceOf	genetic disorder Ehlers-Danlos syndrome subtype
gptkbp:abbreviation	gptkb:hEDS
gptkbp:associatedWith	gptkb:postural_orthostatic_tachycardia_syndrome gptkb:depression gptkb:mast_cell_activation_syndrome anxiety
gptkbp:characterizedBy	fatigue chronic pain autonomic dysfunction easy bruising joint hypermobility gastrointestinal symptoms joint instability proprioceptive impairment soft or stretchy skin
gptkbp:complication	chronic musculoskeletal pain reduced quality of life functional disability joint dislocations
gptkbp:diagnosedBy	gptkb:Beighton_score clinical criteria exclusion of other EDS types
gptkbp:differentialDiagnosis	gptkb:classical_EDS gptkb:joint_hypermobility_syndrome gptkb:vascular_EDS gptkb:Marfan_syndrome
gptkbp:firstDescribed	gptkb:Villefranche_nosology_1997
gptkbp:hasNo	cure definitive genetic test
gptkbp:hasNoKnown	biomarker
https://www.w3.org/2000/01/rdf-schema#label	hypermobile Ehlers-Danlos syndrome
gptkbp:ICD-10_code	Q79.6
gptkbp:inheritance	likely autosomal dominant
gptkbp:managedBy	multidisciplinary team
gptkbp:MeSH_ID	D004537
gptkbp:OMIM	130020
gptkbp:prevalence	estimated 1 in 5,000 people most common EDS subtype
gptkbp:prognosis	variable lifelong condition
gptkbp:supports	gptkb:Ehlers-Danlos_Society gptkb:Hypermobility_Syndromes_Association
gptkbp:symptomOnset	childhood or adolescence
gptkbp:treatment	occupational therapy physical therapy pain management autonomic symptom management
gptkbp:updated	gptkb:2017_International_Classification
gptkbp:bfsParent	gptkb:Ehlers-Danlos_syndrome
gptkbp:bfsLayer	6