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ORPHA:2072

Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome

high confidenceSubtype of disorder

Also known as: Cardiovascular Gaucher disease · Gaucher disease type 3C · Gaucher-like disease

Publications

29

35.6th percentile

Trials

6

Interventional, condition-specific

Researchers

185

Distinct authors in sample

Gene link

GBA1

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.

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 (1)

cardiovascular Gaucher disease

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Strong — GBA1

  2. LiteraturePresent

    29 matched papers (18 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 trialPresent

    6 matched on ClinicalTrials.gov (3 recruiting in sample)

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 (GBA1).

GenCC classification: Strong.

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?

29

29 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.

29 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).

18 in the last 10 years · high confidence · 35.6th percentile (publications denominator)

Phrase hits: 29 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

185

Distinct author names in 29 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Grabowski GA6 papers · 2019

    The Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.

    Papers in Europe PMC
  2. 02
    Sun Y6 papers · 2019

    Division of Human Genetics, Children's Hospital Medical Center, Cincinnati, Ohio 45229-3039.

    Papers in Europe PMC
  3. 03
    Chen Y3 papers · 2018

    Depression Evaluation Service, New York State Psychiatric Institute, 1051 Riverside Drive, New York, NY 10032, USA.

    Papers in Europe PMC
  4. 04
    Ran H3 papers · 2019

    Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

    Papers in Europe PMC
  5. 05
    Witte DP3 papers · 2010
    Papers in Europe PMC
  6. 06
    Jian J2 papers · 2018

    Department of Orthopaedic Surgery, New York University Medical Center, New York, NY, 10003, USA.

    Papers in Europe PMC
  7. 07
    Liu CJ2 papers · 2018

    Department of Orthopaedic Surgery, New York University Medical Center, New York, NY, 10003, USA; Department of Cell Biology, New York University School of Medicine, New York, NY 10016, USA. Electronic address: chuanju.liu@med.nyu.edu.

    Papers in Europe PMC
  8. 08
    Quinn B2 papers · 2019

    Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

    Papers in Europe PMC
  9. 09
    Saunders-Pullman R2 papers · 2018

    Department of Neurology, Mount Sinai Beth Israel Medical Center, New York, NY 10003, USA.

    Papers in Europe PMC
  10. 10
    Sidransky E2 papers · 2017

    Medical Genetics Branch, NHGRI, NIH, Bldg 35A Room 1E623, 35 Convent Drive, Bethesda, MD 20892, United States. Electronic address: sidranse@mail.nih.gov.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

6

interventional trials for this specific condition

6 interventional trials matched this specific condition name; 3 currently recruiting in our sample. 87 trials are registered for Gaucher disease, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

6 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 89th percentile).

high confidence · 89th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

6 interventional trials matched after quoted-phrase search and title/condition post-filter.

Broader category: Gaucher disease

87

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

Observational and natural-history studies

1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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

Likely covered — the policy lists Gaucher disease as a category (Group 3), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.

Group 3 — high-cost / lifelong therapy with careful selection

Up to ₹50 lakh per patient

Financial support at notified Centres of Excellence is the figure commonly cited in recent MoHFW/PIB statements. Many Group 3 patients also use the MoHFW voluntary-contribution / crowdfunding portal.

Eligibility and patient selection rules change. Verify with a CoE; the crowdfunding portal is a separate mechanism from CoE funding. Verify

Centres of Excellence (15)
  • All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
  • Maulana Azad Medical College — New Delhi, Delhi
  • Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
  • Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
  • Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
  • King Edward Memorial Hospital — Mumbai, Maharashtra
  • Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
  • Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
  • Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
  • All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
  • Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
  • All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
  • Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
  • All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
  • Assam Medical College & Hospital — Dibrugarh, Assam

Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/

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.

"Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome" OR "Cardiovascular Gaucher disease" OR "Gaucher disease type 3C" OR "Gaucher-like disease"

Run this search on Europe PMC

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

"Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome" OR "Cardiovascular Gaucher disease" OR "Gaucher disease type 3C" OR "Gaucher-like disease" OR "GBA1"

Recall-expansion terms: GBA1

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 6 interventional · 1 observational · 1 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"Gaucher disease"

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

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 2026-07-26T19:02:04.362Z