RARE DISEASERESEARCH ATLAS

ORPHA:221117

Gerstmann syndrome

medium confidenceDisorder

Publications

606

81.4th percentile

Trials

0

Interventional, condition-specific

Researchers

966

Distinct authors in sample

Gene link

Readiness

1/6

Stages with a signal

Clinical definition (Orphanet)

Gerstmann syndrome is a very rare neurological disorder characterized by the specific association of acalculia, finger agnosia, left-right disorientation, and agraphia, which is supposed to be secondary to a focal subcortical white matter damage in the parietal lobe.

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.”

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.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    606 matched papers (240 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  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?

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?

606

606 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.

606 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).

240 in the last 10 years · medium confidence · 81.4th percentile (publications denominator)

Phrase hits: 606 · MeSH hits: 12

Open Europe PMC search

Who's working on it?

966

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
    Graff-Radford J9 papers · 2024

    Department of Neurology, Mayo Clinic, Rochester MN, USA.

    Papers in Europe PMC
  2. 02
    Whitwell JL9 papers · 2024

    Department of Radiology, Mayo Clinic, Rochester MN, USA. Electronic address: Whitwell.jennifer@mayo.edu.

    Papers in Europe PMC
  3. 03
    Josephs KA8 papers · 2024

    Department of Neurology, Mayo Clinic, Rochester MN, USA.

    Papers in Europe PMC
  4. 04
    Lowe VJ8 papers · 2024

    Department of Radiology, Mayo Clinic, Rochester MN, USA.

    Papers in Europe PMC
  5. 05
    Machulda MM7 papers · 2024

    Department of Psychology and Psychiatry, Mayo Clinic, Rochester MN, USA.

    Papers in Europe PMC
  6. 06
    Na DL6 papers · 2023

    Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.

    Papers in Europe PMC
  7. 07
    Rusconi E6 papers · 2023

    Institut Nationale de la Santé et de la Recherche Médicale (INSERM), Unité 562, Gif-sur-Yvette, France.

    Papers in Europe PMC
  8. 08
    Seo SW6 papers · 2024

    Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.

    Papers in Europe PMC
  9. 09
    Jack CR Jr5 papers · 2024

    Department of Radiology, Mayo Clinic, Rochester MN, USA.

    Papers in Europe PMC
  10. 10
    Jang H5 papers · 2024

    Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.

    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.

medium 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 2026-07-26

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.

"Gerstmann syndrome"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Gerstmann Syndrome

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

"Gerstmann syndrome"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T09:57:15.212Z