ORPHA:899
Walker-Warburg syndrome
Also known as: HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome · WWS
Publications
1,282
Trials
0
Interventional, condition-specific
Researchers
1,315
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare form of muscular (CMD) associated with severe brain and eye abnormalities. It is the most severe form of CMD.
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:0000171
- MeSH:D058494
- UMLS:C0265221
- NCIT:C99109
Additional Mondo synonyms (3)
Walker-Warburg muscular dystrophy · hard syndrome · hydrocephalus-agyria-retinal dysplasia 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
1,282 matched papers (501 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?
1,282
1,282 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.
1,282 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).
501 in the last 10 years · low confidence
Phrase hits: 1,282 · MeSH hits: 0
Who's working on it?
1,315
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.
- 01Ishigaki K8 papers · 2025
Department of Pediatrics, School of Medicine, Tokyo Women's Medical University, 8-1, Kawadacho, Shinjuku-ku, Tokyo, 162-8666, Japan. ishigaki.keiko@twmu.ac.jp.
Papers in Europe PMC - 02Sato T6 papers · 2025
Department of Pediatrics, School of Medicine, Tokyo Women's Medical University, 8-1, Kawadacho, Shinjuku-ku, Tokyo, 162-8666, Japan.
Papers in Europe PMC - 03Taniguchi-Ikeda M6 papers · 2025
Department of Clinical Genetics, Fujita Health University Hospital, Dengakugakubo, Toyoake, Aichi, Japan.
Papers in Europe PMC - 04Toda T6 papers · 2026
Department of Neurology, Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo, 113-8655, Japan. toda@m.u-tokyo.ac.jp.
Papers in Europe PMC - 05Ishiguro K5 papers · 2025
Department of Pediatrics, School of Medicine, Tokyo Women's Medical University, 8-1, Kawadacho, Shinjuku-ku, Tokyo, 162-8666, Japan.
Papers in Europe PMC - 06Murakami T5 papers · 2025
Department of Pediatrics, School of Medicine, Tokyo Women's Medical University, 8-1, Kawadacho, Shinjuku-ku, Tokyo, 162-8666, Japan.
Papers in Europe PMC - 07Nagata S5 papers · 2025
Department of Pediatrics, School of Medicine, Tokyo Women's Medical University, 8-1, Kawadacho, Shinjuku-ku, Tokyo, 162-8666, Japan.
Papers in Europe PMC - 08Shichiji M5 papers · 2025
Department of Pediatrics, School of Medicine, Tokyo Women's Medical University, 8-1, Kawadacho, Shinjuku-ku, Tokyo, 162-8666, Japan.
Papers in Europe PMC - 09Xiong H5 papers · 2026
Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Papers in Europe PMC - 10D'Arco F4 papers · 2025
Department of Radiology (F.D.), Great Ormond Street Hospital for Children, London, 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. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
Observational and natural-history studies
2 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
- NCT01403402·RECRUITING·Congenital Muscle Disease Study of Patient and Family Reported Medical Information
Conditions: Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency · Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy) · Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Fatty Liver and Infantile-onset Cataract Caused by TRAPPC11 Mutations) · Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Hypoglycosylation of Dystroglycan)·Matched via name phrase
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.
"Walker-Warburg syndrome" OR "HARD syndrome" OR "Hydrocephalus-agyria-retinal dysplasia syndrome" OR "Walker-Warburg muscular dystrophy"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Walker-Warburg syndrome" OR "HARD syndrome" OR "Hydrocephalus-agyria-retinal dysplasia syndrome" OR "Walker-Warburg muscular dystrophy"
Study-type breakdown: 0 interventional · 2 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: WWS
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 (1282) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T15:49:46.954Z