ORPHA:401945
Moyamoya disease with early-onset achalasia
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
5
19.9th percentile
Trials
0
Interventional, condition-specific
Researchers
72
Distinct authors in sample
Gene link
GUCY1A1
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Moyamoya disease with early-onset achalasia is an exceedingly rare neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis.
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:0014331
- OMIM:615750
- UMLS:C3810403
Additional Mondo synonyms (1)
moyamoya 6 with achalasia
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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Strong — GUCY1A1
- LiteraturePresent
5 matched papers (5 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 trialPartial
None under the specific name; 28 for broader category Moyamoya disease
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 (GUCY1A1).
GenCC classification: Strong.
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?
5
5 papers have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
5 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).
5 in the last 10 years · high confidence · 19.9th percentile (publications denominator)
Phrase hits: 5 · MeSH hits: 0
Who's working on it?
72
Distinct author names in 5 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.
- 01Alanne-Kinnunen M1 paper · 2018
Institute for Molecular Medicine Finland (FIMM), University of Helsinki, 00014, Helsinki, Finland.
Papers in Europe PMC - 02Aldhahri SK1 paper · 2025
Genetic and Metabolic Medicine, Department of Pediatrics, King Fahad University Hospital, Imam Abdulrahman Bin Faisal University, Alkhobar, Saudi Arabia.
Papers in Europe PMC - 03Altassan R1 paper · 2025
Department of Medical Genomics, Genomics Medicine Centre of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. Electronic address: raltassan@kfshrc.edu.sa.
Papers in Europe PMC - 04Asselman C1 paper · 2025
VIB-UGent Center for Medical Biotechnology, VIB, Campus Ardoyen, Technologiepark-Zwijnaarde 75, 9052, Ghent, Belgium.
Papers in Europe PMC - 05Baumer A1 paper · 2023
Institute of Medical Genetics, University of Zürich, Schlieren-Zurich, 8952, Switzerland.
Papers in Europe PMC - 06
- 07
- 08Cabello EM1 paper · 2023
Institute of Medical Genetics, University of Zürich, Schlieren-Zurich, 8952, Switzerland.
Papers in Europe PMC - 09
- 10Daly MJ1 paper · 2018
Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.
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). 28 trials are registered for Moyamoya disease, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
high 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.
28 interventional trials matched Moyamoya disease, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: Moyamoya disease
28
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT07144930·RECRUITING·Cognitive-Motor Incorporated Training and Its Relations in Cerebrovascular Diseases With Cognitive and Motor Impairments
Conditions: Moyamoya Disease · Healthy · Stroke·Matched via name phrase
- NCT06330818·RECRUITING·Imaging in Moyamoya Disease - Study to Investigate Different Imaging Technologies for a Better Understanding of Various Imaging Techniques to Evaluate Cerebral Hemodynamics, Disease-activity and Possibly the Etiology in Moyamoya Patients
Conditions: Moyamoya Disease · Moyamoya·Matched via name phrase
- NCT07140731·RECRUITING·The Symani Restore Study
Conditions: Moyamoya Disease·Matched via name phrase
- NCT07304947·RECRUITING·Cardiac Index-Guided Intraoperative Hemodynamic Management in Pediatric Moyamoya Surgery
Conditions: Moyamoya Disease·Matched via name phrase
- NCT03546309·RECRUITING·Safety and Efficacy of RIC in Pediatric Moyamoya Disease Patients Treated With Revascularization Therapy
Conditions: Moyamoya Disease · Pediatric·Matched via name phrase
- NCT06714097·RECRUITING·Application of Digital Twins' Technology in Patients Who Had a Stroke, With Moyamoya Disease and With Cerebral Amyloid Angiopathy (CAA) During the Secondary Prevention Phase: A Proof of Concept Using a Randomized Control Trial (Clinical Study 6, STRATIF-AI Project)
Conditions: Stroke · Moyamoya Disease · Cerebral Amyloid Angiopathy·Matched via name phrase
- NCT07286110·NOT YET RECRUITING·Chinese Herbal Therapy (Qiqi Shengmai Formula) for Moyamoya Vasculopathy: The CHIMES Trial
Conditions: Moyamoya Disease · Moyamoya Syndrome·Matched via name phrase
- NCT06477107·ENROLLING BY INVITATION·A Study of Cerebral Perfusion With tDCS in Chronic Hypoperfusion
Conditions: Moyamoya Syndrome · Moyamoya Disease · Atheroscleroses, Cerebral·Matched via name phrase
- NCT07065409·RECRUITING·Treatment of Moyamoya Disease With iPSC-derived Exosomes
Conditions: Moyamoya Disease·Matched via name phrase
- NCT07377695·RECRUITING·Remimazolam Consumption: TCI vs. Manual Infusion
Conditions: Moyamoya Disease·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.
"Moyamoya disease with early-onset achalasia" OR "moyamoya 6 with achalasia"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Moyamoya disease with early-onset achalasia" OR "moyamoya 6 with achalasia" OR "GUCY1A1"
Recall-expansion terms: GUCY1A1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"Moyamoya disease"
Query health: suspect — strategies attempted: phrase, recall-expansion; 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 2026-07-27T15:28:17.283Z