ORPHA:2770
Nasu-Hakola disease
Also known as: NHD · PLO-SL · PLOSL · Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Publications
954
Trials
0
Interventional, condition-specific
Researchers
882
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.
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:0009092
- UMLS:C1857316
Additional Mondo synonyms (2)
polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy · polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly
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
954 matched papers (593 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 found
No matched interventional trial under our ClinicalTrials.gov rules
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?
954
954 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.
954 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).
593 in the last 10 years · low confidence
Phrase hits: 954 · MeSH hits: 0
Who's working on it?
882
Distinct author names in 200 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.
- 01Satoh JI10 papers · 2023
Department of Bioinformatics and Molecular Neuropathology, Meiji Pharmaceutical University, Tokyo, Japan.
Papers in Europe PMC - 02Kino Y9 papers · 2020
Department of Bioinformatics and Molecular Neuropathology, Meiji Pharmaceutical University, Tokyo, Japan.
Papers in Europe PMC - 03Saito Y8 papers · 2020
Department of Laboratory Medicine, National Center Hospital, NCNP, Tokyo, Japan.
Papers in Europe PMC - 04Yanaizu M8 papers · 2020
Department of Bioinformatics and Molecular Neuropathology, Meiji Pharmaceutical University, Tokyo, Japan.
Papers in Europe PMC - 05Ishida T7 papers · 2020
Department of Pathology and Laboratory Medicine, Kohnodai Hospital, NCGM, Chiba, Japan.
Papers in Europe PMC - 06Korvatska O7 papers · 2026
Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98195, USA; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA. Electronic address: ok5@uw.edu.
Papers in Europe PMC - 07Li Y7 papers · 2026
Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Papers in Europe PMC - 08Guerreiro R6 papers · 2021
Department of Neurodegenerative Science, Van Andel Institute, Grand Rapids, Michigan, USA.
Papers in Europe PMC - 09Raskind WH6 papers · 2024
Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.
Papers in Europe PMC - 10Hardy J5 papers · 2025
Department of Molecular Neuroscience, University College London Institute of Neurology, London WC1N 1PJ, UK.
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).
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.
low 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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.
"Nasu-Hakola disease" OR "PLO-SL" OR "PLOSL" OR "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy" OR "polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Nasu-Hakola disease" OR "PLO-SL" OR "PLOSL" OR "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy" OR "polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: NHD
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (954) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T21:07:52.747Z