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ORPHA:536467

B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome

low confidenceSubtype of disorder

Also known as: B3GALT6-related spEDS · B3GALT6-related spondylodysplastic EDS · Beta3GalT6-deficient EDS · Ehlers-Danlos syndrome progeroid type 2 · spEDS-B3GALT6

Publications

2,732

Trials

0

Interventional, condition-specific

Researchers

297

Distinct authors in sample

Gene link

B3GALT6

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in B3GALT6 and characterized by short stature, variable degrees of muscle , joint hypermobility, especially of the hands, bowing of limbs and or early onset, kyphoscoliosis. Additional features include the typical craniofacial gestalt (prominent forehead, sparse hair, mid-face hypoplasia, blue sclerae, proptosis and abnormal dentition), hyperextensible, soft, thin, translucent and doughy skin, delayed motor and/or cognitive development, characteristic radiographic findings (spondyloepimetaphyseal , platyspondyly, anterior beak of vertebral body, short ilia, elbow malalignment and generalized osteoporosis), joint contractures and ascending aortic aneurysm.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (6)

B3GALT6 Ehlers-Danlos syndrome progeroid type · EDSP2 · EDSSPD2 · Ehlers-Danlos syndrome progeroid type caused by mutation in B3GALT6 · Ehlers-Danlos syndrome, progeroid type, 2 · Ehlers-Danlos syndrome, spondylodysplastic type, 2

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

4/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — B3GALT6

  2. LiteraturePresent

    2,732 matched papers (1,107 in last 10 years) Source

  3. Phenotype characterisedPresent

    133 HPO annotations (e.g. Multiple joint dislocation; Long philtrum; Micrognathia) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPartial

    None under the specific name; 44 for broader category Ehlers-Danlos syndrome

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (B3GALT6).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

133

Associated phenotypes · MONDO:0014139

  • Multiple joint dislocation
  • Long philtrum
  • Micrognathia
  • Anteverted nares
  • Beaking of vertebral bodies

Showing 5 of 133 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,732

2,732 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

2,732 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

1,107 in the last 10 years · low confidence

Phrase hits: 45 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

297

Distinct author names in 45 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Malfait F6 papers · 2025

    Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium.

    Papers in Europe PMC
  2. 02
    Mizumoto S6 papers · 2021

    Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, 150 Yagotoyama, Tempaku-ku, Nagoya 468-8503, Japan. mizumoto@meijo-u.ac.jp.

    Papers in Europe PMC
  3. 03
    Yamada S6 papers · 2021

    Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, 150 Yagotoyama, Tempaku-ku, Nagoya 468-8503, Japan. ktomoki@shinshu-u.ac.jp.

    Papers in Europe PMC
  4. 04
    Syx D5 papers · 2025

    Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.

    Papers in Europe PMC
  5. 05
    Cormier-Daire V3 papers · 2024

    Université de Paris, INSERM UMR 1163, Institut Imagine, Paris, France.

    Papers in Europe PMC
  6. 06
    Sugahara K3 papers · 2017

    Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, 150 Yagotoyama, Tempaku-ku, Nagoya 468-8503, Japan. mizumoto@meijo-u.ac.jp.

    Papers in Europe PMC
  7. 07
    Van Damme T3 papers · 2022

    Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium.

    Papers in Europe PMC
  8. 08
    Ahmidi N2 papers · 2023

    Fraunhofer IKS, Fraunhofer Institute for Cognitive Systems IKS, 80686 Munich, Germany.

    Papers in Europe PMC
  9. 09
    Barreto G2 papers · 2025

    Univ Paris Est Creteil, Glycobiology, Cell Growth and Tissue Repair Research Unit (Gly-CRRET), Creteil, France.

    Papers in Europe PMC
  10. 10
    Bauer A2 papers · 2023

    Helmholtz Zentrum München, Computational Health Department, Member of the German Center for Lung Research (DZL), 85764 Munich, Germany.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 44 trials are registered for Ehlers-Danlos syndrome, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

44 interventional trials matched Ehlers-Danlos syndrome, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: Ehlers-Danlos syndrome

44

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

("B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome" OR "B3GALT6-related spEDS" OR "B3GALT6-related spondylodysplastic EDS" OR "Beta3GalT6-deficient EDS" OR "Ehlers-Danlos syndrome progeroid type 2" OR "spEDS-B3GALT6" OR "B3GALT6 Ehlers-Danlos syndrome progeroid type" OR "EDSP2" OR "EDSSPD2" OR "Ehlers-Danlos syndrome progeroid type caused by mutation in B3GALT6" OR "Ehlers-Danlos syndrome, progeroid type, 2" OR "Ehlers-Danlos syndrome, spondylodysplastic type, 2") OR ("B3GALT6" OR "B3GALT6 syndrome" OR "B3GALT6-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome" OR "B3GALT6-related spEDS" OR "B3GALT6-related spondylodysplastic EDS" OR "Beta3GalT6-deficient EDS" OR "Ehlers-Danlos syndrome progeroid type 2" OR "spEDS-B3GALT6" OR "B3GALT6 Ehlers-Danlos syndrome progeroid type" OR "EDSP2" OR "EDSSPD2" OR "Ehlers-Danlos syndrome progeroid type caused by mutation in B3GALT6" OR "Ehlers-Danlos syndrome, progeroid type, 2" OR "Ehlers-Danlos syndrome, spondylodysplastic type, 2"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"Ehlers-Danlos syndrome"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (2732) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T18:10:10.010Z