ORPHA:3240
Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome
Also known as: Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase). Source fetch failed for trials.
Publications
3
7th percentile
Trials
—
Interventional, condition-specific
Researchers
23
Distinct authors in sample
Gene link
—
Readiness
1/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0017924
- UMLS:C4512024
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
3 matched papers (1 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
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?
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=5449) is 41.
3 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).
1 in the last 10 years · high confidence · 7th percentile (publications denominator)
Phrase hits: 3 · MeSH hits: 0
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.
- 01Chen CL1 paper · 2021
Division of sports medicine, Chang Gung Memorial Hospital, Chiayi 613, Taiwan.
Papers in Europe PMC - 02Chen TH1 paper · 2021
School of Medicine, Chang Gung University, Taoyuan 333, Taiwan.
Papers in Europe PMC - 03Daw 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 - 04Forejt J1 paper · 2001Papers in Europe PMC
- 05Gregornik D1 paper · 2009Papers in Europe PMC
- 06Hása J1 paper · 2001Papers in Europe PMC
- 07Horácková M1 paper · 2001Papers in Europe PMC
- 08Hsu WH1 paper · 2021
Division of Sports Medicine, Department of Orthopaedic Surgery, Chang Gung Memorial Hospital, Chiayi 613, Taiwan.
Papers in Europe PMC - 09Jenkins JJ1 paper · 2009Papers in Europe PMC
- 10Jones DP1 paper · 2009Papers 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 27 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.
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 2026-07-26This 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"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
(empty)
Recall-expansion terms: disease by body system or component
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Source errors: trials: Error: Failed after 5 retries: 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%20OR%20%22disease%20by%20body%20system%20or%20component%22&format=json&pageSize=100&countTotal=true — 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%20OR%20%22disease%20by%20body%20system%20or%20component%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