schema: eds-research/corpus/v1
subtypes:
  - id: heds
    name: Hypermobile Ehlers-Danlos syndrome
    abbreviation: hEDS
    classification: eds-2017
    inheritance: unknown
    genes: [KLK15]
    genetic_status: candidate-emerging
    villefranche_equivalent: EDS type III / hypermobility type
    prevalence_display: Most common EDS type; diagnosed EDS/HSD prevalence about 1 in 500 in the 2019 Wales cohort, versus older textbook figures near 1 in 5,000
    distinguishing_features: Generalized joint hypermobility (Beighton score), musculoskeletal pain, and systemic manifestations; diagnosed clinically under the 2017 three-part criteria because molecular confirmation is not yet available
    summary: The most common and least genetically resolved EDS type. Diagnosis remains clinical under the 2017 criteria; the KLK15 finding (2025) is the first associated gene but explains only a subset of families, with HEDGE (n=1,000) expected to clarify.
    source_ids:
      - source-36ad1cab53c4cea4f4b4
      - source-1ad3f0edd57e0fab1524
      - source-ee867f99ac8808a4ef80
      - source-eaeabc3db4dd07d41bc5
    reviewed_at: "2026-09-16"
  - id: ceds
    name: Classical Ehlers-Danlos syndrome
    abbreviation: cEDS
    classification: eds-2017
    inheritance: autosomal-dominant
    genes: [COL5A1, COL5A2]
    genetic_status: confirmed-molecular-basis
    villefranche_equivalent: EDS types I and II
    prevalence_display: Estimated around 1 in 20,000 to 1 in 40,000
    distinguishing_features: Skin hyperextensibility with widened atrophic scars, generalized joint hypermobility, easy bruising
    summary: The archetypal skin-predominant type. Molecular confirmation via COL5A1/COL5A2 identifies the large majority of cases meeting clinical criteria.
    source_ids:
      - source-36ad1cab53c4cea4f4b4
      - source-c55aca51ea775bf6d160
      - source-be972ed50decef4cbf0b
    reviewed_at: "2026-09-16"
  - id: veds
    name: Vascular Ehlers-Danlos syndrome
    abbreviation: vEDS
    classification: eds-2017
    inheritance: autosomal-dominant
    genes: [COL3A1]
    genetic_status: confirmed-molecular-basis
    villefranche_equivalent: EDS type IV
    prevalence_display: Estimated around 1 in 50,000 to 1 in 200,000
    distinguishing_features: Arterial and organ rupture risk, thin translucent skin, characteristic facial features; the highest-acuity EDS type
    summary: The severe vascular type defined by COL3A1 variants. Arterial dissection and organ rupture drive its distinct management, including cautious surgical and anesthetic approaches and celiprolol debate.
    source_ids:
      - source-36ad1cab53c4cea4f4b4
      - source-c55aca51ea775bf6d160
      - source-be972ed50decef4cbf0b
    reviewed_at: "2026-09-16"
  - id: cleds
    name: Classical-like Ehlers-Danlos syndrome
    abbreviation: clEDS
    classification: eds-2017
    inheritance: autosomal-recessive
    genes: [TNXB]
    genetic_status: confirmed-molecular-basis
    prevalence_display: Rare; exact prevalence unknown
    distinguishing_features: Classical-like skin features without atrophic scarring; TNXB-related (tenascin-X deficiency)
    summary: Recessive classical-like presentation caused by tenascin-X deficiency; distinguished from cEDS by absent atrophic scarring and recessive inheritance.
    source_ids:
      - source-36ad1cab53c4cea4f4b4
      - source-c55aca51ea775bf6d160
    reviewed_at: "2026-09-16"
  - id: cveds
    name: Cardiac-valvular Ehlers-Danlos syndrome
    abbreviation: cvEDS
    classification: eds-2017
    inheritance: autosomal-recessive
    genes: [COL1A2]
    genetic_status: confirmed-molecular-basis
    prevalence_display: Ultra-rare; few families described
    distinguishing_features: Progressive cardiac valve pathology plus classical-like features
    summary: Ultra-rare recessive type caused by specific COL1A2 variants; severe progressive valvular disease is the defining risk.
    source_ids:
      - source-36ad1cab53c4cea4f4b4
      - source-c55aca51ea775bf6d160
    reviewed_at: "2026-09-16"
  - id: aeds
    name: Arthrochalasia Ehlers-Danlos syndrome
    abbreviation: aEDS
    classification: eds-2017
    inheritance: autosomal-dominant
    genes: [COL1A1, COL1A2]
    genetic_status: confirmed-molecular-basis
    villefranche_equivalent: EDS type VIIA and VIIB
    prevalence_display: Ultra-rare; congenital hip dislocation at birth is characteristic
    distinguishing_features: Severe congenital hypermobility with bilateral hip dislocation, skin hyperextensibility, hypotonia
    summary: Dominant type caused by variants disrupting the COL1A1/COL1A2 N-propeptide cleavage sites; presents at birth with hip dislocation and marked laxity.
    source_ids:
      - source-36ad1cab53c4cea4f4b4
      - source-c55aca51ea775bf6d160
    reviewed_at: "2026-09-16"
  - id: deds
    name: Dermatosparaxis Ehlers-Danlos syndrome
    abbreviation: dEDS
    classification: eds-2017
    inheritance: autosomal-recessive
    genes: [ADAMTS2]
    genetic_status: confirmed-molecular-basis
    villefranche_equivalent: EDS type VIIC
    prevalence_display: Ultra-rare
    distinguishing_features: Extreme skin fragility and laxity, characteristic craniofacial features
    summary: Recessive type caused by ADAMTS2 deficiency (procollagen N-peptidase), producing extreme skin fragility.
    source_ids:
      - source-36ad1cab53c4cea4f4b4
      - source-c55aca51ea775bf6d160
    reviewed_at: "2026-09-16"
  - id: keds
    name: Kyphoscoliotic Ehlers-Danlos syndrome
    abbreviation: kEDS
    classification: eds-2017
    inheritance: autosomal-recessive
    genes: [PLOD1, FKBP14]
    genetic_status: confirmed-molecular-basis
    villefranche_equivalent: EDS type VI
    prevalence_display: Rare
    distinguishing_features: Congenital progressive kyphoscoliosis, hypotonia, joint laxity, ocular fragility risk
    summary: Recessive type with congenital scoliosis and lysyl-hydroxylase-pathway defects (PLOD1; FKBP14 for a related form).
    source_ids:
      - source-36ad1cab53c4cea4f4b4
      - source-c55aca51ea775bf6d160
    reviewed_at: "2026-09-16"
  - id: bcs
    name: Brittle cornea syndrome
    abbreviation: BCS
    classification: eds-2017
    inheritance: autosomal-recessive
    genes: [ZNF469, PRDM5]
    genetic_status: confirmed-molecular-basis
    prevalence_display: Ultra-rare
    distinguishing_features: Extreme corneal thinning and rupture risk, blue sclerae, joint hypermobility
    summary: Recessive type dominated by ocular fragility; protective eyewear is a standard management point.
    source_ids:
      - source-36ad1cab53c4cea4f4b4
      - source-c55aca51ea775bf6d160
    reviewed_at: "2026-09-16"
  - id: speds
    name: Spondylodysplastic Ehlers-Danlos syndrome
    abbreviation: spEDS
    classification: eds-2017
    inheritance: autosomal-recessive
    genes: [B4GALT7, B3GALT6, SLC39A13]
    genetic_status: confirmed-molecular-basis
    prevalence_display: Rare
    distinguishing_features: Short stature, skeletal dysplasia, muscle hypotonia, bowing of limbs
    summary: Recessive type involving proteoglycan-pathway and zinc-transporter defects; overlaps with spondylo-ocular phenotypes.
    source_ids:
      - source-36ad1cab53c4cea4f4b4
      - source-c55aca51ea775bf6d160
    reviewed_at: "2026-09-16"
  - id: mceds
    name: Musculocontractural Ehlers-Danlos syndrome
    abbreviation: mcEDS
    classification: eds-2017
    inheritance: autosomal-recessive
    genes: [CHST14, DSE]
    genetic_status: confirmed-molecular-basis
    prevalence_display: Rare; more reported in East Asian cohorts
    distinguishing_features: Congenital contractures, progressive scoliosis, characteristic craniofacial features, dermatan-sulfate pathway defects
    summary: Recessive type caused by dermatan-sulfate epimerase/sulfotransferase defects; congenital contractures are characteristic.
    source_ids:
      - source-36ad1cab53c4cea4f4b4
      - source-c55aca51ea775bf6d160
    reviewed_at: "2026-09-16"
  - id: meds
    name: Myopathic Ehlers-Danlos syndrome
    abbreviation: mEDS
    classification: eds-2017
    inheritance: autosomal-dominant-or-recessive
    genes: [COL12A1]
    genetic_status: confirmed-molecular-basis
    prevalence_display: Rare
    distinguishing_features: Muscle hypotonia and weakness from early childhood plus hypermobility; muscle biopsy changes
    summary: Type overlapping myopathy and connective-tissue disease, caused by COL12A1 variants; both dominant and recessive forms reported.
    source_ids:
      - source-36ad1cab53c4cea4f4b4
      - source-c55aca51ea775bf6d160
    reviewed_at: "2026-09-16"
  - id: peds
    name: Periodontal Ehlers-Danlos syndrome
    abbreviation: pEDS
    classification: eds-2017
    inheritance: autosomal-dominant
    genes: [C1R, C1S]
    genetic_status: confirmed-molecular-basis
    prevalence_display: Rare
    distinguishing_features: Early severe periodontitis and tooth loss, easy bruising, pretibial skin changes
    summary: Dominant type driven by complement-pathway (C1R/C1S) variants; severe early periodontal disease is the defining feature.
    source_ids:
      - source-36ad1cab53c4cea4f4b4
      - source-c55aca51ea775bf6d160
    reviewed_at: "2026-09-16"
  - id: hsd
    name: Hypermobility spectrum disorder
    abbreviation: HSD
    classification: related-spectrum
    inheritance: unknown
    genes: []
    genetic_status: unknown
    prevalence_display: More common than hEDS by definition of the residual category; true prevalence unresolved
    distinguishing_features: Symptomatic joint hypermobility not meeting the strict 2017 hEDS criteria; a clinical diagnosis
    summary: The residual category for symptomatic hypermobility falling short of hEDS criteria. Whether HSD and hEDS are meaningfully distinct is an open research question tracked by this index.
    source_ids:
      - source-d7dec285eaee780f18a3
      - source-36ad1cab53c4cea4f4b4
      - source-eaeabc3db4dd07d41bc5
    reviewed_at: "2026-09-16"