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ORPHA:536467

B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome

high confidenceSubtype of disorder

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

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

45

50.1th percentile

Trials

0

Interventional, condition-specific

Researchers

297

Distinct authors in sample

Gene link

B3GALT6

Definitive

Readiness

3/6

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.”

3/6 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

    45 matched papers (41 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPartial

    None under the specific name; 43 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)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

45

45 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

45 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

41 in the last 10 years · high confidence · 50.1th percentile (publications denominator)

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). 43 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 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

high confidence · 36.5th 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.

43 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

43

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

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

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"

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" OR "B3GALT6" OR "Ehlers-Danlos syndrome, spondylodysplastic type" OR "B3GALT6-congenital disorder of glycosylation"

Recall-expansion terms: B3GALT6, Ehlers-Danlos syndrome, spondylodysplastic type, B3GALT6-congenital disorder of glycosylation

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: suspect — strategies attempted: phrase, recall-expansion; 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

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