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moyamoya disease 1 (MYMY1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

moyamoya disease 1

MONDO:0009649

Also known as:MYMY1Moyamoya diseasespontaneous occlusion of the circle of Willis

Find Clinical TrialsTrials

Overview

GeneticsAutosomal recessive

Clinical Trials27 registered · 18 recruiting

Clinical Presentation

Features include: Carotid artery occlusion, Telangiectasia, and Inflammatory arteriopathy.

Organ System	Phenotype Count	Example Features
Skin	1	Telangiectasia

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Diagnosis

Biomarker and diagnostic research for moyamoya disease 1 has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

27 clinical trials registered, 18 recruiting. Interventions under study include other interventions, medical devices, drug therapy, and procedural interventions. Pipeline includes 2 PHASE1, 9 NA. Research is primarily sponsored by academic and government institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT06330818](https://clinicaltrials.gov/study/NCT06330818)

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:34 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:252350

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 27 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Research Type	Count	% of Total
Research summaries	42	38%
Disease patterns and progression	21	19%
Laboratory research	20	18%
Clinical study results	14	13%
Testing and diagnosis research	7	6%
Patient case studies	5	5%
Other research	1	1%

moyamoya disease 1

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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