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ORPHA:555877

FLNA-related X-linked myxomatous valvular dysplasia

low confidenceDisorder

Also known as: FLNA-related valvular dystrophy · Filamin A-related X-linked myxomatous valvular dysplasia

Publications

628

Trials

1

Interventional, condition-specific

Researchers

1,243

Distinct authors in sample

Gene link

FLNA

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic cardiac characterized by myxomatous degeneration predominantly of the mitral valve (but not uncommonly with multivalvular involvement), presenting as valve thickening and dysfunction with variable stenosis, prolapse, and/or regurgitation, and potentially resulting in lethal heart failure. Hyperextensible skin and joint hypermobility have been reported in some patients. Hemizygous males display a more severe than heterozygous females.

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)

CVD1 · XMVD · cardiac valvular dysplasia, X-linked · congenital valvular dysplasia · myxomatous valvular dystrophy, X-linked · valvular heart disease, congenital

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 — FLNA

  2. LiteraturePresent

    628 matched papers (476 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

    1 matched on ClinicalTrials.gov (1 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 (FLNA).

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?

628

628 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=5449) is 41.

628 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).

476 in the last 10 years · low confidence

Phrase hits: 628 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,243

Distinct author names in 200 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
    Wang Y9 papers · 2026

    The First School of Clinical Medicine, Southern Medical University, Guangzhou 510515, China.

    Papers in Europe PMC
  2. 02
    Wang H8 papers · 2026

    Department of Cardiology, The Affiliated Hospital of Southwest Jiaotong University, The Third People's Hospital of Chengdu, Chengdu, China.

    Papers in Europe PMC
  3. 03
    Chen X7 papers · 2026

    Department of Neurology, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, 325002, China.

    Papers in Europe PMC
  4. 04
    Wang L7 papers · 2026

    Department of Rehabilitation, Tongji Hospital Affiliated to Tongji University, Tongji University School of Medicine, Shanghai, China.

    Papers in Europe PMC
  5. 05
    Yang Y7 papers · 2025

    Department of Emergency, Qingdao West Coast New Area Central Hospital, Qingdao, Shandong, China.

    Papers in Europe PMC
  6. 06
    Zhang Y7 papers · 2026

    Department of Cardiology, the Affiliated Jiangning Hospital of Nanjing Medical University, Nanjing, Jiangsu 211199, China.

    Papers in Europe PMC
  7. 07
    Chen Y6 papers · 2026

    Department of Emergency, Qingdao West Coast New Area Central Hospital, Qingdao, Shandong, China.

    Papers in Europe PMC
  8. 08
    Li Y6 papers · 2026

    Department of Computer Science and Engineering, Faculty of Engineering, The Chinese University of Hong Kong, Hong Kong SAR, China.

    Papers in Europe PMC
  9. 09
    Liu J6 papers · 2026

    Joint surgery, First People’s Hospital of Zhengzhou City, Zhengzhou 450000, China

    Papers in Europe PMC
  10. 10
    Liu X6 papers · 2025

    Department of Rehabilitation, Tongji Hospital Affiliated to Tongji University, Tongji University School of Medicine, Shanghai, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

low confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

3 observational studies match 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

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.

"FLNA-related X-linked myxomatous valvular dysplasia" OR "FLNA-related valvular dystrophy" OR "Filamin A-related X-linked myxomatous valvular dysplasia" OR "cardiac valvular dysplasia, X-linked" OR "congenital valvular dysplasia" OR "myxomatous valvular dystrophy, X-linked" OR "valvular heart disease, congenital"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Cardiac valvular dysplasia, X-linked

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

"FLNA-related X-linked myxomatous valvular dysplasia" OR "FLNA-related valvular dystrophy" OR "Filamin A-related X-linked myxomatous valvular dysplasia" OR "cardiac valvular dysplasia, X-linked" OR "congenital valvular dysplasia" OR "myxomatous valvular dystrophy, X-linked" OR "valvular heart disease, congenital" OR "FLNA"

Recall-expansion terms: FLNA

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

Study-type breakdown: 1 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: CVD1; XMVD

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (628) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T18:18:44.664Z