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Cerebral Cavernous Malformation 3

Disease Details

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Description: Cerebral cavernous malformation 3 is a genetic disorder characterized by abnormally formed blood vessels in the brain that can cause seizures, headaches, and other neurological symptoms.
Type: Cerebral cavernous malformation 3 (CCM3) is inherited in an autosomal dominant manner. This means that only one copy of the mutated gene, inherited from either parent, is sufficient to cause the disorder.
Signs And Symptoms: Cerebral cavernous malformation 3 (CCM3) is a genetic condition characterized by the development of abnormal blood vessels in the brain that can lead to various neurological symptoms. Here are the signs and symptoms:

1. **Headaches**: Frequent and severe headaches are common.
2. **Seizures**: Many patients experience seizures of varying types and intensities.
3. **Focal Neurological Deficits**: This can include muscle weakness, numbness, difficulty with coordination, and vision problems.
4. **Hemorrhages**: Bleeding within the brain can occur, leading to sudden and severe symptoms.
5. **Stroke-like Episodes**: These can include sudden loss of speech, sudden weakness or numbness on one side of the body, and other stroke-like symptoms.

The severity and frequency of these symptoms can vary widely between individuals.
Prognosis: Cerebral cavernous malformation 3 (CCM3) prognosis typically depends on the individual case and the severity of the malformations. Generally, the condition can vary significantly in terms of symptoms and outcomes. Some individuals may remain asymptomatic, while others may experience neurological issues, seizures, or hemorrhages. Regular monitoring and medical management are crucial for optimizing outcomes, but the long-term prognosis can be unpredictable.

If "nan" is referring to a situation where no symptoms or notable data are present, it suggests that more personalized information may be necessary for a precise prognosis. Regular follow-ups with healthcare providers are essential.
Onset: Cerebral cavernous malformation 3 (CCM3) is a genetic condition characterized by the presence of malformed blood vessels in the brain, which can lead to seizures, headaches, and neurological deficits. The onset of symptoms can occur at any age, but often manifests in the second to fourth decade of life. "Nan" is not applicable or clear in this context. If you meant "not applicable" for a specific detail, please specify.
Prevalence: The prevalence of cerebral cavernous malformations (CCMs) in the general population is estimated to be about 0.5%. However, specific prevalence data for the type known as cerebral cavernous malformation 3 (CCM3) is not typically isolated from the overall prevalence of CCMs. CCM3 is one of the genetic variants and is associated with mutations in the PDCD10 gene. Accurate prevalence rates for this specific type are not well-documented.
Epidemiology: Cerebral cavernous malformation 3 (CCM3) is one of the subtypes of cerebral cavernous malformations, which are clusters of abnormally dilated blood vessels in the brain that can cause various neurological problems. CCM3 is specifically linked to mutations in the PDCD10 gene.

Epidemiology:
- Cerebral cavernous malformations occur in approximately 0.5% of the general population.
- The frequency of symptomatic cases is lower, estimated at around 1 in 2,500 to 3,000 individuals.
- Familial forms of the condition, including CCM3, account for 10-20% of all cases.
- There is no significant difference in prevalence between males and females.

If you have any more specific inquiries, feel free to ask.
Intractability: Cerebral Cavernous Malformation 3 (CCM3) can be challenging to manage but is not universally intractable. The condition involves abnormal blood vessels in the brain, which can lead to seizures, hemorrhages, and other neurological symptoms. Management often includes monitoring, medication to control symptoms (e.g., anti-seizure drugs), and potentially surgical intervention to remove accessible malformations. The complexity and variability of the condition make it difficult to declare it entirely intractable, but some cases may be resistant to standard treatments.
Disease Severity: Cerebral Cavernous Malformation 3 (CCM3) is a genetic condition characterized by the development of abnormal blood vessels in the brain, which can lead to various complications such as seizures, neurological deficits, and hemorrhages. The disease severity can vary widely among affected individuals, ranging from asymptomatic cases to severe neurological issues. It's important to monitor and manage the condition under the guidance of a healthcare professional.
Healthcare Professionals: Disease Ontology ID - DOID:0060671
Pathophysiology: Cerebral cavernous malformation 3 (CCM3) is a subtype of cerebral cavernous malformations (CCMs), which are vascular malformations in the brain characterized by abnormally enlarged capillary cavities without intervening brain parenchyma. These malformations can lead to a spectrum of clinical symptoms, including seizures, headaches, and neurological deficits due to hemorrhage or pressure on adjacent brain structures.

Pathophysiology:
- CCM3 is caused by mutations in the PDCD10 (Programmed Cell Death 10) gene on chromosome 3. This gene encodes a protein known as CCM3 or PDCD10.
- The CCM3 protein interacts with other proteins involved in the maintenance and permeability of endothelial cell junctions, such as CCM1 (KRIT1) and CCM2 (MGC4607).
- Mutation in PDCD10 disrupts the function of CCM3, leading to weakened endothelial cell junctions and increased vessel permeability.
- Consequently, this results in the formation of cavernous malformations, characterized by clusters of dilated, thin-walled blood vessels.
- These malformed vessels are prone to leaking and bleeding, which can cause microhemorrhages and larger hemorrhagic strokes.

Currently, no curated pathway data is available for CCM3, making it an area of active research to fully understand the detailed molecular mechanisms involved in the disease.
Carrier Status: Cerebral cavernous malformation 3 (CCM3) is typically inherited in an autosomal dominant manner. This means a carrier of a single pathogenic variant in the CCM3 gene (also known as PDCD10) can potentially develop the disease. Carriers may show symptoms, but the severity and presentation can vary.
Mechanism: Cerebral Cavernous Malformation 3 (CCM3) is a subtype of cerebral cavernous malformations, which are vascular abnormalities in the brain characterized by clusters of dilated blood vessels.

**Mechanism:**
CCM3 is typically associated with mutations in the PDCD10 gene (Programmed Cell Death 10). These mutations lead to the formation of dysfunctional blood vessels, which are prone to bleeding and can result in seizures, headaches, and other neurological symptoms.

**Molecular Mechanisms:**
1. **Gene Mutation:** Mutations in the PDCD10 gene disrupt the normal function of the encoded protein, often leading to a loss of function. PDCD10 is crucial for maintaining vascular integrity and endothelial cell junctions.

2. **Protein Interactions:** The PDCD10 protein interacts with several other proteins involved in critical signaling pathways, including the CCM complex (involving KRIT1 and CCM2) and the VEGF (Vascular Endothelial Growth Factor) pathway. Disruption of these interactions affects cellular processes such as apoptosis, cell proliferation, and migration, all of which contribute to vascular formation and stability.

3. **Cellular Pathways:** Mutant PDCD10 can disturb key cellular pathways, notably the RhoA-ROCK pathway, which is essential for endothelial cell cytoskeletal arrangement and junction stability. Dysregulation of this pathway can lead to weakened endothelial cell junctions, increased vascular permeability, and abnormal angiogenesis.

The combination of these molecular disruptions culminates in the formation of cavernous malformations, leading to the clinical manifestations of CCM3.
Treatment: Cerebral Cavernous Malformation 3 (CCM3) is part of a group of disorders characterized by abnormally formed blood vessels in the brain. Treatment typically includes:

1. **Observation**: Regular monitoring with MRI to check for changes in size or number of malformations, especially if asymptomatic.
2. **Medication**: To manage symptoms such as seizures or headaches, anticonvulsants or pain relievers may be prescribed.
3. **Surgery**: In cases where lesions cause significant symptoms, such as recurrent hemorrhages or neurological deficits, surgical removal of the malformation might be considered.
Compassionate Use Treatment: Cerebral cavernous malformation 3 (CCM3) is a genetic condition involving abnormal blood vessels in the brain, which can lead to seizures, hemorrhages, and other neurological issues.

1. **Compassionate Use Treatment**: Compassionate use, also known as expanded access, may be considered for patients with serious or immediately life-threatening conditions who cannot participate in clinical trials and have no alternative treatment options. Physicians can request access to experimental drugs or treatments for CCM3 through regulatory agencies, such as the FDA in the United States, on behalf of their patients.

2. **Off-label Treatments**: Off-label use refers to the use of medications for an indication not approved by the regulatory agency. Some medications might be used off-label to manage symptoms associated with CCM3, such as anticonvulsants for seizures. It's essential to rely on a healthcare provider's expertise for off-label treatment decisions.

3. **Experimental Treatments**: Experimental treatments for CCM3 often involve clinical trials that explore new medications, gene therapies, or other innovative approaches. Participation in such trials can provide access to cutting-edge treatments that are not yet widely available. Researchers are investigating various pathways and potential therapies to modify the disease course at the genetic or molecular level.

Patients should always discuss potential treatments, including compassionate use and experimental options, with their healthcare providers to determine the best course of action tailored to their specific condition.
Lifestyle Recommendations: For individuals with Cerebral Cavernous Malformation 3 (CCM3), lifestyle recommendations generally focus on minimizing the risk of hemorrhage and managing symptoms. Specific advice can include:

1. **Regular Monitoring**: Regular MRI scans and neurological assessments to monitor the lesions.
2. **Avoiding Blood Thinners**: Unless prescribed by a healthcare provider for other conditions, avoid medications such as aspirin or anticoagulants that can increase bleeding risk.
3. **Stress Management**: Practice stress-reduction techniques such as meditation, yoga, or other forms of relaxation to reduce the risk of precipitating neurological events.
4. **Safe Physical Activities**: Engage in low-impact exercises and avoid contact sports or activities with a high risk of head injury.
5. **Healthy Lifestyle**: Adopt a balanced diet, maintain a healthy weight, and avoid smoking and excessive alcohol consumption to support overall vascular health.
6. **Medical Alert Identification**: Consider wearing a medical alert bracelet to inform healthcare professionals of the condition in case of emergencies.
7. **Symptom Awareness**: Be vigilant for symptoms such as headaches, seizures, or sudden neurological deficits and seek immediate medical attention if they occur.

Always consult with a healthcare provider for personalized recommendations based on individual health status and risk factors.
Medication: Cerebral cavernous malformation 3 (CCM3) is a type of genetic condition characterized by the presence of abnormal blood vessel clusters in the brain, which can lead to seizures, headaches, and neurological deficits.

For CCM3, there is currently no specific medication that can cure or directly treat the malformations. Management usually focuses on alleviating symptoms and preventing complications. Common approaches include:

1. **Antiepileptic Drugs (AEDs)**: These are used to control seizures, a common symptom.
2. **Pain Management**: Medications such as analgesics may be prescribed for headache relief.
3. **Surgical Intervention**: In cases where medication is not effective or the malformation causes significant symptoms, surgical removal may be considered.

Routine monitoring through imaging techniques, such as MRI, is also an important aspect of managing the condition.
Repurposable Drugs: For cerebral cavernous malformation 3 (CCM3), research on repurposable drugs is still ongoing. Some potential candidates include:

1. **Statins (e.g., simvastatin, atorvastatin)**: These drugs, commonly used to lower cholesterol, have shown promise in animal models for reducing vascular leak and lesion burden in CCM.
2. **Fasudil**: A Rho kinase inhibitor used in the treatment of cerebral vasospasm, which may help stabilize blood vessel walls.
3. **Propranolol**: A beta-blocker traditionally used for hypertension and heart conditions, could potentially reduce lesion burden, though studies are preliminary.

Always consult with a specialist for tailored advice and consider the latest research for up-to-date information.
Metabolites: Cerebral cavernous malformation 3 (CCM3) refers to a genetic disorder caused by mutations in the PDCD10 gene. This condition leads to vascular abnormalities in the brain, specifically clusters of dilated blood vessels prone to bleeding. Information on specific metabolites associated with CCM3 is currently not well-documented or characterized in scientific literature. Therefore, there are no known specific metabolites directly linked to CCM3 at this time.
Nutraceuticals: There is no specific evidence supporting the use of nutraceuticals in the treatment or management of Cerebral Cavernous Malformation 3 (CCM3). Treatment typically involves medical management and surgical interventions depending on the severity and symptoms. Always consult with a healthcare provider for personalized medical advice.
Peptides: Cerebral cavernous malformation 3 (CCM3) is a genetic condition characterized by vascular abnormalities in the brain and other parts of the central nervous system. These abnormalities are caused by mutations in the PDCD10 gene. For therapeutic interventions or research, peptides specific to mutations or pathways involved in CCM3 might be targeted. However, as of now, the use of specific peptides for CCM3 is not a standard approach.

"Nan" might refer to "nanotechnology," which is a field being explored for drug delivery and diagnostics in various diseases, including those affecting the brain. Although it is a promising area of research, there is currently limited direct application of nanotechnology specifically for CCM3.

Research and clinical trials may eventually develop targeted peptide-based therapies or nanotechnology-based interventions, but these are still largely in the experimental stages. If you are looking for detailed and updated information on therapeutic research, consulting recent scientific literature or clinical trial databases would be advisable.