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ORPHA:217

Isolated Dandy-Walker malformation

high confidenceDisorder

Publications

6,581

93.1th percentile

Trials

0

Interventional, condition-specific

Researchers

1,163

Distinct authors in sample

Gene link

ZIC1

Limited

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare non-syndromic central nervous system characterized by the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and .

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (3)

Dandy Walker Malformation · Dandy-Walker syndrome · Dandy-Walker syndrome, Isolated cases

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Limited — ZIC1

  2. LiteraturePresent

    6,581 matched papers (3,555 in last 10 years) Source

  3. Phenotype characterisedPresent

    30 HPO annotations (e.g. Cranial nerve paralysis; Thinning and bulging of the posterior fossa bones; Elevated imprint of the transverse sinuses) Source

  4. Animal modelPresent

    3 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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?

Possibly — only limited evidence so far for ZIC1.

GenCC classification: Limited.

Phenotypes (Monarch / HPO)

30

Associated phenotypes · MONDO:0009072

  • Cranial nerve paralysis
  • Thinning and bulging of the posterior fossa bones
  • Elevated imprint of the transverse sinuses
  • Agenesis of cerebellar vermis
  • Truncal ataxia

Showing 5 of 30 — open Monarch for the full list.

Animal models (Monarch / Alliance)

3

Model associations linked to this Mondo ID

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)

2 associated chemicals. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Valproic Acid · marker/mechanism
  • Warfarin · marker/mechanism

MyDisease.info · MONDO:0009072

Literature

Is anyone studying this?

6,581

6,581 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

6,581 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).

3,555 in the last 10 years · high confidence · 93.1th percentile (publications denominator)

Phrase hits: 3,756 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,163

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.

  1. 01
    Li Y4 papers · 2026

    Department of Pediatric Intensive Care Unit, The First Hospital of Jilin University, Xin Min Street, 130021, Changchun, China. liyumei201912@126.com.

    Papers in Europe PMC
  2. 02
    Miller E4 papers · 2026

    Department of Diagnostic and Interventional Radiology, University of Toronto, Toronto, ON, Canada.

    Papers in Europe PMC
  3. 03
    Zhang P4 papers · 2026

    Department of Reproductive Genetics, Hebei General Hospital, Shijiazhuang, 050051, P. R. China.

    Papers in Europe PMC
  4. 04
    Dobyns WB3 papers · 2025

    Department of Genetics and Metabolism (W.B.D.), Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota.

    Papers in Europe PMC
  5. 05
    Liu Z3 papers · 2026

    Department of Radiology, The First Hospital of Jilin University, Changchun, China.

    Papers in Europe PMC
  6. 06
    Shannon P3 papers · 2026

    Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada.

    Papers in Europe PMC
  7. 07
    Shinar S3 papers · 2026

    Department of Obstetrics and Gynaecology, Division of Maternal Fetal Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada.

    Papers in Europe PMC
  8. 08
    Wang Y3 papers · 2026

    State Key Laboratory of Common Mechanism Research for Major Diseases, Department of Physiology, Institute of Basic Medical Sciences and School of Basic Medicine, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

    Papers in Europe PMC
  9. 09
    Ababtain SA2 papers · 2024

    Genetics Section, Research Department, Health Sciences Research Center, Princess Nourah bint Abdulrahman University, P.O. Box 84428, Riyadh, 11671, Saudi Arabia.

    Papers in Europe PMC
  10. 10
    Abdulrahim MM2 papers · 2024

    Research and Academic Accreditation, Academic Affairs, King Abdullah bin Abdulaziz University Hospital, Princess Nourah bint Abdulrahman University, P.O. Box 84428, Riyadh, 11671, Saudi Arabia.

    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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

high confidence · 38.6th 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.

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 Isolated Dandy-Walker malformation — 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.

("Isolated Dandy-Walker malformation" OR "Dandy Walker Malformation" OR "Dandy-Walker syndrome" OR "Dandy-Walker syndrome, Isolated cases") OR ("ZIC1" OR "ZIC1 syndrome" OR "ZIC1-related")

Run this search on Europe PMC

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

"Isolated Dandy-Walker malformation" OR "Dandy Walker Malformation" OR "Dandy-Walker syndrome" OR "Dandy-Walker syndrome, Isolated cases"

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

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 2026-07-26T12:55:50.285Z