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cerebral cavernous malformations 5 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cerebral cavernous malformations 5

MONDO:0975952

Overview

GeneticsMultifactorial · MAP3K3 (chr 17)

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 always present findings: Cerebral cavernous malformation; and sometimes findings: Intracranial hemorrhage.

Organ System	Phenotype Count	Example Features
Brain and nerves	1	Cerebral cavernous malformation
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.

MAP3K3 encodes mitogen-activated protein kinase kinase kinase 3 (626 aa). Component of a protein kinase signal transduction cascade. Mediates activation of the NF-kappa-B, AP1 and DDIT3 transcriptional regulators Highest expression in Whole Blood (57.5 TPM) and Nerve Tibial (55.9 TPM).

Cerebral cavernous malformations 5 is associated with mutations in the MAP3K3 gene on chromosome 17.

MAP3K3 is classified as a druggable target (Druggable Genome, Enzyme, Kinase, and Serine Threonine Kinase categories) with score 0.0.

Diagnosis

Genetic testing for MAP3K3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for cerebral cavernous malformations 5 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature.

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 cerebral cavernous malformations 5.

135 publications have been identified in PubMed for cerebral cavernous malformations 5. Kisho has analyzed 82 by research type. Research spans Review / Meta-Analysis (26%), Epidemiology / Natural History (23%), and Clinical Trial Publication (15%).

Research Type	Count	% of Total
Research summaries	21	26%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:53 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:621032

Questions for Your Care Team

→Should I pursue genetic testing for MAP3K3, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

cerebral cavernous malformations 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

cerebral cavernous malformations 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications