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moyamoya disease 7 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

moyamoya disease 7

MONDO:0958202

Overview

GeneticsAutosomal recessive, Autosomal dominant · ANO1 (chr 11)

Patient Orgs1 organizations · Moyamoya Foundation

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Posterior cerebral artery stenosis, Carotid artery stenosis, Stroke, and Migraine and 3 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Posterior cerebral artery stenosis, Stroke, Migraine
Heart and blood vessels

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

ANO1 encodes anoctamin 1 (986 aa). Calcium-activated chloride channel (CaCC). Plays a role in transepithelial anion transport and smooth muscle contraction. Highest expression in Artery Aorta (113.7 TPM) and Artery Coronary (41.5 TPM).

Moyamoya disease 7 is associated with mutations in the ANO1 gene on chromosome 11.

The ANO1 protein participates in ANO1 inhibitors bind ANO1, ANO1 transports cytosolic Cl- to extracellular region, and ANOs transport cytosolic Cl- to extracellular region pathways.

ANO1 is classified as a druggable target (Ion Channel category) with score 17.4.

Diagnosis

Genetic testing for ANO1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for moyamoya disease 7 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.

No clinical trials have been registered for moyamoya disease 7.

226 publications have been identified in PubMed for moyamoya disease 7. Research spans Clinical Trial Publication (26%), Epidemiology / Natural History (19%), and Diagnostic / Biomarker (13%).

Research Type	Count	% of Total
Clinical study results	59	26%

Data assembled from 5 of 12 sources · Last updated Nov 2, 2026, 10:01 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Patient Advocacy Groups

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Moyamoya FoundationPrimary Focus

USWebsite ↗

Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.

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Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620687

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→How can I connect with Moyamoya Foundation and other patient organizations for support?

← Back to All Diseases

Kisho

moyamoya disease 7

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Differences in Intracranial Artery and Brain Impairment Between Pediatric and Adult Moyamoya Disease: A Comparative MRI Study.

Fregoli syndrome in an adolescent with Moyamoya disease.

Lipid metabolism in moyamoya disease: Emerging evidence, vascular remodeling, and therapeutic implications.

moyamoya disease 7

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Differences in Intracranial Artery and Brain Impairment Between Pediatric and Adult Moyamoya Disease: A Comparative MRI Study.

Fregoli syndrome in an adolescent with Moyamoya disease.

Lipid metabolism in moyamoya disease: Emerging evidence, vascular remodeling, and therapeutic implications.