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ORPHA:3240

Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome

high confidenceDisorder

Also known as: Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome

Query health: suspect — Source fetch failed for trials.

Publications

3

8th percentile

Trials

—

Interventional, condition-specific

Researchers

23

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic neurological disorder characterized by early-onset leukoencephalopathy, severe , early-onset or deafness (only few cases reported without hearing loss), and visual impairment. All patients manifest calcifications in brain and spinal cord. Cognitive impairment, , , spastic tetraplegia or quadriplegia are observed in the majority of the patients. Variable features may include microcephaly and anemia.

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)

Yoshimura-Takeshita syndrome

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.”

2/6 stages with a signal

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    3 matched papers (1 in last 10 years) Source

  3. Phenotype characterisedPresent

    23 HPO annotations (e.g. Absent speech; Hyperreflexia; Developmental regression) 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 trialNot checked

    Trial fetch failed or incomplete

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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

23

Associated phenotypes · MONDO:0017924

  • Absent speech
  • Hyperreflexia
  • Developmental regression
  • Subcortical white matter calcifications
  • Vestibular areflexia

Showing 5 of 23 — 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?

3

3 papers have ever been indexed 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=3967) is 59.

3 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 in the last 10 years · high confidence · 8th percentile (publications denominator)

Phrase hits: 3 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

23

Distinct author names in 3 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
    Chen CL1 paper · 2021

    Division of sports medicine, Chang Gung Memorial Hospital, Chiayi 613, Taiwan.

    Papers in Europe PMC
  2. 02
    Chen TH1 paper · 2021

    School of Medicine, Chang Gung University, Taoyuan 333, Taiwan.

    Papers in Europe PMC
  3. 03
    Daw NC1 paper · 2009

    Department of Oncology, St. Jude Children's Research Hospital, Memphis, TN 38105-3678, USA. najat.daw@stjude.org

    Papers in Europe PMC
  4. 04
    Forejt J1 paper · 2001
    Papers in Europe PMC
  5. 05
    Gregornik D1 paper · 2009
    Papers in Europe PMC
  6. 06
    Hása J1 paper · 2001
    Papers in Europe PMC
  7. 07
    Horácková M1 paper · 2001
    Papers in Europe PMC
  8. 08
    Hsu WH1 paper · 2021

    Division of Sports Medicine, Department of Orthopaedic Surgery, Chang Gung Memorial Hospital, Chiayi 613, Taiwan.

    Papers in Europe PMC
  9. 09
    Jenkins JJ1 paper · 2009
    Papers in Europe PMC
  10. 10
    Jones DP1 paper · 2009
    Papers in Europe PMC

Clinical research

Is a treatment being tested?

—

interventional trials for this specific condition

We could not load trial data for this condition right now.

Data as of 11 September 2026 · last trial check 31 July 2026

high confidence

Recruiting interventional trials

From the matched ClinicalTrials.gov set

Trial data could not be loaded for this build. This is not the same as finding zero interventional trials.

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 2026-07-29

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 Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment 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.

"Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome" OR "Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome" OR "Yoshimura-Takeshita syndrome"

Run this search on Europe PMC

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

"Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome"

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

Run this search on ClinicalTrials.gov

Source errors: trials: Error: HTTP 400 for https://clinicaltrials.gov/api/v2/studies?query.cond=%22Early-onset%20progressive%20leukoencephalopathy-central%20nervous%20system%20calcification-deafness-visual%20impairment%20syndrome%22%20OR%20%22Early%20onset%20progressive%20leukoencephalopathy-%20central%20nervous%20system%20calcification-%20hearing%20loss-visual%20impairment%20syndrome%22%20OR%20%22Yoshimura-Takeshita%20syndrome%22&format=json&pageSize=100&countTotal=true

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 2026-07-26T22:36:26.214Z