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ORPHA:603448

Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome

low confidenceDisorder

Also known as: CIMDAG syndrome

Publications

1,123

Trials

0

Interventional, condition-specific

Researchers

65

Distinct authors in sample

Gene link

VPS4A

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare multiple anomalies/ syndrome characterized by central nervous system abnormalities (particularly cerebellar hypoplasia), microcephaly, , severe neurodevelopmental delay, growth impairment,dystonia, eye abnormalities (particularly cataract whereas retinal and Leber amaurosis are also reported) and dyserythropoietic anemia. Additional clinical features may include other structural brain abnormalities (such as cerebral atrophy, basal ganglia atrophy, brainstem hypoplasia), feeding difficulties, sleep disturbances, , and sensorineural deafness.

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.

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.”

3/6 stages with a signal

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Definitive — VPS4A

  2. LiteraturePresent

    1,123 matched papers (803 in last 10 years) Source

  3. Phenotype characterisedPresent

    33 HPO annotations (e.g. Seizure; Thin corpus callosum; Severe intellectual disability) 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 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?

Yes — we know a specific gene responsible (VPS4A).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

33

Associated phenotypes · MONDO:0035819

  • Seizure
  • Thin corpus callosum
  • Severe intellectual disability
  • Cerebral atrophy
  • Pontocerebellar atrophy

Showing 5 of 33 — 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?

1,123

1,123 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=3967) is 59.

1,123 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).

803 in the last 10 years · low confidence

Phrase hits: 4 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

65

Distinct author names in 4 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
    Abou Jamra R1 paper · 2024

    Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany.

    Papers in Europe PMC
  2. 02
    Allred ET1 paper · 2023

    Department of Pediatrics, University of California, San Diego, CA, United States.

    Papers in Europe PMC
  3. 03
    Arelin M1 paper · 2024

    Department for Women and Child Health, Hospital for Children and Adolescents, University Hospitals, University of Leipzig, Leipzig, Germany.

    Papers in Europe PMC
  4. 04
    Arzberger T1 paper · 2024

    Department of Psychiatry and Psychotherapy, University Hospital, Ludwig-Maximilians-University, Munich, Germany; Center for Neuropathology and Prion Research, University Hospital Munich, Ludwig-Maximilians-University, Munich, Germany.

    Papers in Europe PMC
  5. 05
    Blechschmidt C1 paper · 2024

    Department of Neuropathology, Hospital Nürnberg, Nürnberg, Germany.

    Papers in Europe PMC
  6. 06
    Brugger M1 paper · 2024

    Institute of Human Genetics, Technical University of Munich, Munich, Germany.

    Papers in Europe PMC
  7. 07
    Caporali L1 paper · 2024

    Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy; IRCCS Istituto Delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.

    Papers in Europe PMC
  8. 08
    Carelli V1 paper · 2024

    Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy; IRCCS Istituto Delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.

    Papers in Europe PMC
  9. 09
    Carrozzo R1 paper · 2024

    Translational Pediatrics and Clinical Genetics Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.

    Papers in Europe PMC
  10. 10
    Chen A1 paper · 2024

    Department of Pediatrics, The Second People's Hospital of Chengdu City, Chengdu, China.

    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.

low 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 2026-07-30

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 Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation 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.

("Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome" OR "CIMDAG syndrome") OR ("VPS4A" OR "VPS4A syndrome" OR "VPS4A-related")

Run this search on Europe PMC

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

"Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome" OR "CIMDAG syndrome"

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
  • Publication count (1123) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T19:01:22.846Z