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Brain Health (neurological Disorders)

Explore Genetic Insights

Summary

Diseases Found 46
High Risk 1
Medium Risk 43
Low Risk 2
Mutated Genes Found 21

Contents

Brain Health (Neurological Disorders)

The following diseases are associated with Brain Health (Neurological Disorders):

Disease Predisposition
Alzheimer Disease High
Nervous System Diseases Medium
Neurodegenerative Diseases Medium
Cerebrovascular Disorders Medium
Central Nervous System Diseases Medium
Brain Diseases, Metabolic Medium
Neuromuscular Diseases Medium
Lysosomal Storage Diseases, Nervous System Medium
Neurologic Manifestations Medium
Cranial Nerve Diseases Medium
Spinal Cord Ischemia Medium

Alzheimer Disease

Alzheimer's disease is a neurodegenerative disorder. The genetic transmission can be both autosomal dominant for early-onset familial cases and multifactorial involving genetic and environmental factors for late-onset cases.

Predisposition: High
Explanation of predisposition: We predict genetic risk by analyzing specific genetic variants within key genes associated with a condition. For each variant, we assess its impact on biological pathways that are known to influence the disease. The prediction takes into account both the clinical significance of each variant and the confidence in the prediction, which is determined by the quality and strength of the supporting scientific data and research.
Associated Genes
Gene Mutation Type Allele Confidence
PHACTR2 Duplication C/C High
TMEM45A Duplication T/A High
FOXD4 Inversion T/T Medium
MROH2B Inversion C/T Medium
ANK2 Duplication A/T High
Population Frequency By Gene

Population frequency indicates how common a specific genetic variant is within a group of people, expressed as a percentage. For example, if a gene variant has a frequency of 20%, it means about 20 out of 100 individuals carry that variant. This information helps researchers understand the potential impact of genetic variants on health and traits within different populations.

Gene Frequency
PHACTR2 19%
TMEM45A 5%
FOXD4 23%
MROH2B 11%
ANK2 23%
Associated Pathways

A pathway refers to a series of biochemical reactions and interactions that occur within cells, allowing for communication between genes, proteins, and metabolites. These pathways are crucial for various physiological functions, including neurotransmission, hormone signaling, and metabolic processes, and can influence behaviors and health outcomes when disrupted by genetic mutations.

Pathway Type Effects
REACT:R-HSA-6805567 GABAergic Signaling Regulates apoptosis and cell death
Possible Comobordities

Comorbidities are additional health conditions that often occur alongside a primary condition. For example, someone with ADHD may also have other related issues, such as anxiety or learning difficulties. These conditions are linked because they may share similar causes, such as genetics or brain chemistry, making it more likely for a person to experience both at the same time.

Gene Comorbidities Associated Mechanism
PHACTR2 Parkinson's Disease Cellular apoptosis
TMEM45A Chronic Obstructive Pulmonary Disease (COPD) Immune system dysfunction
FOXD4 Parkinson's Disease Neurodegeneration
MROH2B Asthma Metabolic dysregulation
ANK2 Osteoporosis Immune system dysfunction

Recommendations for High Risk for Alzheimer Disease

  • Consultation: Schedule an immediate consultation with a genetic counselor or specialist.
  • Diagnostic Testing: Consider advanced diagnostic testing to confirm genetic predisposition and evaluate current health status.
  • Preventive Treatment: Explore targeted preventive treatments or medications under a physician's guidance.
  • Personalized Lifestyle Plan:
    • Maintain a nutrient-rich diet (e.g., high in antioxidants, omega-3s).
    • Exercise regularly with a focus on moderate-to-high intensity activities.
    • Reduce stress through mindfulness practices like meditation or yoga.
    • Avoid smoking, excessive alcohol, and environmental toxins.

    For specific vitamins, supplement, or treatment recommendations: See predicted treatments for Alzheimer Disease.

Next Steps

Learn more about Alzheimer Disease.

See predicted treatments for Alzheimer Disease.

Schedule a consultation with a GeneHealth representative to discuss results.

Nervous System Diseases

Central nervous system (CNS) diseases encompass a wide range of conditions that affect the brain and spinal cord. The type of genetic transmission for CNS diseases can vary widely depending on the specific condition in question. Some CNS diseases are inherited in a Mendelian manner, which includes: 1. **Autosomal Dominant**: Conditions where a single copy of the mutated gene inherited from one parent can cause the disease (e.g., Huntington's disease). 2. **Autosomal Recessive**: Conditions that require two copies of the mutated gene, one from each parent (e.g., Friedreich's ataxia). 3. **X-Linked**: Conditions associated with mutations on the X chromosome (e.g., Fragile X syndrome). Other CNS diseases may have more complex inheritance patterns, including multifactorial inheritance involving multiple genes and environmental factors (e.g., multiple sclerosis). Some may also involve mitochondrial inheritance (e.g., mitochondrial encephalomyopathy).

Predisposition: Medium
Explanation of predisposition: We predict genetic risk by analyzing specific genetic variants within key genes associated with a condition. For each variant, we assess its impact on biological pathways that are known to influence the disease. The prediction takes into account both the clinical significance of each variant and the confidence in the prediction, which is determined by the quality and strength of the supporting scientific data and research.
Associated Genes
Gene Mutation Type Allele Confidence
GRM6 Substitution G/T High
ACAD9-DT Deletion T/A High
SLC12A7 Duplication T/C High
MRPL36 Substitution C/A Medium
PHACTR2 Insertion A/A High
Population Frequency By Gene

Population frequency indicates how common a specific genetic variant is within a group of people, expressed as a percentage. For example, if a gene variant has a frequency of 20%, it means about 20 out of 100 individuals carry that variant. This information helps researchers understand the potential impact of genetic variants on health and traits within different populations.

Gene Frequency
GRM6 11%
ACAD9-DT 17%
SLC12A7 17%
MRPL36 20%
PHACTR2 6%
Associated Pathways

A pathway refers to a series of biochemical reactions and interactions that occur within cells, allowing for communication between genes, proteins, and metabolites. These pathways are crucial for various physiological functions, including neurotransmission, hormone signaling, and metabolic processes, and can influence behaviors and health outcomes when disrupted by genetic mutations.

Pathway Type Effects
REACT:R-HSA-6805567 Notch Signaling Pathway Plays a role in synaptic plasticity
REACT:R-HSA-74160 mTOR Signaling Pathway Controls cell differentiation
REACT:R-HSA-1430728 Notch Signaling Pathway Impacts cellular stress response
REACT:R-HSA-76002 Cholinergic Pathway Plays a role in synaptic plasticity
REACT:R-HSA-611105 mTOR Signaling Pathway Plays a role in synaptic plasticity
REACT:R-HSA-114608 Glutamatergic Transmission Influences inflammatory response
REACT:R-HSA-76005 Cholinergic Pathway Regulates apoptosis and cell death
Possible Comobordities

Comorbidities are additional health conditions that often occur alongside a primary condition. For example, someone with ADHD may also have other related issues, such as anxiety or learning difficulties. These conditions are linked because they may share similar causes, such as genetics or brain chemistry, making it more likely for a person to experience both at the same time.

Gene Comorbidities Associated Mechanism
GRM6 Stroke Neurodegeneration
ACAD9-DT Parkinson's Disease Inflammation
SLC12A7 Osteoporosis Metabolic dysregulation
MRPL36 Cancer Oxidative stress
PHACTR2 Hypertension Genetic predisposition

Recommendations for Medium Risk for Central Nervous System Disease

  • Consultation: Schedule a follow-up consultation with a primary care provider or genetic counselor.
  • Monitoring: Regularly monitor your health for early signs of the condition associated with your predisposition.
  • Lifestyle Adjustments: Implement moderate lifestyle changes to mitigate risk.
  • Personalized Lifestyle Plan:
    • Maintain a balanced diet rich in whole foods, lean protein, and healthy fats.
    • Engage in regular physical activity, such as walking, swimming, or light strength training.
    • Incorporate stress management techniques like deep breathing exercises or light yoga.
    • Limit alcohol consumption and reduce exposure to pollutants.

    For additional guidance on managing your predisposition: See treatment options for Nervous System Diseases.

Next Steps

Learn more about Central Nervous System Disease.

See predicted treatments for Nervous System Diseases.

Schedule a consultation with a GeneHealth representative to discuss results.

Neurodegenerative Diseases

Neurodegenerative disorders can vary widely in their type and genetic transmission. Below are several notable examples: 1. Alzheimer's Disease - Type: Neurodegenerative disorder - Type of genetic transmission: Most cases are sporadic, but familial Alzheimer's can be inherited in an autosomal dominant manner. 2. Parkinson's Disease - Type: Neurodegenerative disorder - Type of genetic transmission: Most cases are sporadic, but there are familial forms with autosomal dominant or autosomal recessive inheritance. 3. Huntington's Disease - Type: Neurodegenerative disorder - Type of genetic transmission: Autosomal dominant 4. Amyotrophic Lateral Sclerosis (ALS) - Type: Neurodegenerative disorder - Type of genetic transmission: Most cases are sporadic, but approximately 10% of cases are familial with various inheritance patterns including autosomal dominant and autosomal recessive. 5. Frontotemporal Dementia (FTD) - Type: Neurodegenerative disorder - Type of genetic transmission: Can be sporadic or autosomal dominant in familial cases. Each type of neurodegenerative disorder can have distinct characteristics and patterns of inheritance.

Predisposition: Medium
Explanation of predisposition: We predict genetic risk by analyzing specific genetic variants within key genes associated with a condition. For each variant, we assess its impact on biological pathways that are known to influence the disease. The prediction takes into account both the clinical significance of each variant and the confidence in the prediction, which is determined by the quality and strength of the supporting scientific data and research.
Associated Genes
Gene Mutation Type Allele Confidence
ACAD9-DT Insertion G/G High
TMEM45A Insertion T/G High
SLC12A7 Inversion A/T Medium
MRPL36 Duplication T/G Medium
GTPBP8 Substitution T/C Medium
Population Frequency By Gene

Population frequency indicates how common a specific genetic variant is within a group of people, expressed as a percentage. For example, if a gene variant has a frequency of 20%, it means about 20 out of 100 individuals carry that variant. This information helps researchers understand the potential impact of genetic variants on health and traits within different populations.

Gene Frequency
ACAD9-DT 20%
TMEM45A 5%
SLC12A7 5%
MRPL36 20%
GTPBP8 8%
Associated Pathways

A pathway refers to a series of biochemical reactions and interactions that occur within cells, allowing for communication between genes, proteins, and metabolites. These pathways are crucial for various physiological functions, including neurotransmission, hormone signaling, and metabolic processes, and can influence behaviors and health outcomes when disrupted by genetic mutations.

Pathway Type Effects
REACT:R-HSA-6805567 NF-kappa B Signaling Pathway Regulates neurotransmitter release
REACT:R-HSA-74160 TGF-beta Signaling Pathway Plays a role in synaptic plasticity
REACT:R-HSA-1430728 Wnt Signaling Pathway Controls cell differentiation
REACT:R-HSA-76002 MAPK Signaling Pathway Affects immune response
REACT:R-HSA-611105 TGF-beta Signaling Pathway Critical for embryonic development
REACT:R-HSA-114608 TGF-beta Signaling Pathway Affects immune response
REACT:R-HSA-76005 Wnt Signaling Pathway Plays a role in synaptic plasticity
Possible Comobordities

Comorbidities are additional health conditions that often occur alongside a primary condition. For example, someone with ADHD may also have other related issues, such as anxiety or learning difficulties. These conditions are linked because they may share similar causes, such as genetics or brain chemistry, making it more likely for a person to experience both at the same time.

Gene Comorbidities Associated Mechanism
ACAD9-DT Parkinson's Disease Inflammation
TMEM45A Hypertension Chronic infection
SLC12A7 Chronic Obstructive Pulmonary Disease (COPD) Genetic predisposition
MRPL36 Asthma Chronic infection
GTPBP8 Cancer Inflammation

Recommendations for Medium Risk for Neurodegenerative Disorder

  • Consultation: Schedule a follow-up consultation with a primary care provider or genetic counselor.
  • Monitoring: Regularly monitor your health for early signs of the condition associated with your predisposition.
  • Lifestyle Adjustments: Implement moderate lifestyle changes to mitigate risk.
  • Personalized Lifestyle Plan:
    • Maintain a balanced diet rich in whole foods, lean protein, and healthy fats.
    • Engage in regular physical activity, such as walking, swimming, or light strength training.
    • Incorporate stress management techniques like deep breathing exercises or light yoga.
    • Limit alcohol consumption and reduce exposure to pollutants.

    For additional guidance on managing your predisposition: See treatment options for Neurodegenerative Diseases.

Next Steps

Learn more about Neurodegenerative Disorder.

See predicted treatments for Neurodegenerative Diseases.

Schedule a consultation with a GeneHealth representative to discuss results.

Cerebrovascular Disorders

Cerebrovascular disease primarily includes conditions such as stroke, aneurysms, and arteriosclerosis affecting the blood vessels in the brain. It does not follow a single type of genetic transmission but can have multifactorial causes, including a combination of genetic predisposition and environmental factors. Some genetic conditions, like CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy), which leads to cerebrovascular disease, follow an autosomal dominant inheritance pattern.

Predisposition: Medium
Explanation of predisposition: We predict genetic risk by analyzing specific genetic variants within key genes associated with a condition. For each variant, we assess its impact on biological pathways that are known to influence the disease. The prediction takes into account both the clinical significance of each variant and the confidence in the prediction, which is determined by the quality and strength of the supporting scientific data and research.
Associated Genes
Gene Mutation Type Allele Confidence
MRPL36 Insertion A/A Medium
PUM3 Substitution A/C High
MROH2B Deletion A/A Medium
ANK2 Substitution C/A High
NQO2 Inversion G/A Medium
Population Frequency By Gene

Population frequency indicates how common a specific genetic variant is within a group of people, expressed as a percentage. For example, if a gene variant has a frequency of 20%, it means about 20 out of 100 individuals carry that variant. This information helps researchers understand the potential impact of genetic variants on health and traits within different populations.

Gene Frequency
MRPL36 3%
PUM3 12%
MROH2B 23%
ANK2 6%
NQO2 15%
Associated Pathways

A pathway refers to a series of biochemical reactions and interactions that occur within cells, allowing for communication between genes, proteins, and metabolites. These pathways are crucial for various physiological functions, including neurotransmission, hormone signaling, and metabolic processes, and can influence behaviors and health outcomes when disrupted by genetic mutations.

Pathway Type Effects
REACT:R-HSA-6805567 TGF-beta Signaling Pathway Critical for embryonic development
Possible Comobordities

Comorbidities are additional health conditions that often occur alongside a primary condition. For example, someone with ADHD may also have other related issues, such as anxiety or learning difficulties. These conditions are linked because they may share similar causes, such as genetics or brain chemistry, making it more likely for a person to experience both at the same time.

Gene Comorbidities Associated Mechanism
MRPL36 Diabetes Genetic predisposition
PUM3 Hypertension Chronic infection
MROH2B Hypertension Inflammation
ANK2 Depression Neurodegeneration
NQO2 Osteoporosis Chronic infection

Recommendations for Medium Risk for Cerebrovascular Disease

  • Consultation: Schedule a follow-up consultation with a primary care provider or genetic counselor.
  • Monitoring: Regularly monitor your health for early signs of the condition associated with your predisposition.
  • Lifestyle Adjustments: Implement moderate lifestyle changes to mitigate risk.
  • Personalized Lifestyle Plan:
    • Maintain a balanced diet rich in whole foods, lean protein, and healthy fats.
    • Engage in regular physical activity, such as walking, swimming, or light strength training.
    • Incorporate stress management techniques like deep breathing exercises or light yoga.
    • Limit alcohol consumption and reduce exposure to pollutants.

    For additional guidance on managing your predisposition: See treatment options for Cerebrovascular Disorders.

Next Steps

Learn more about Cerebrovascular Disease.

See predicted treatments for Cerebrovascular Disorders.

Schedule a consultation with a GeneHealth representative to discuss results.

Central Nervous System Diseases

Central nervous system (CNS) diseases encompass a wide range of conditions that affect the brain and spinal cord. The type of genetic transmission for CNS diseases can vary widely depending on the specific condition in question. Some CNS diseases are inherited in a Mendelian manner, which includes: 1. **Autosomal Dominant**: Conditions where a single copy of the mutated gene inherited from one parent can cause the disease (e.g., Huntington's disease). 2. **Autosomal Recessive**: Conditions that require two copies of the mutated gene, one from each parent (e.g., Friedreich's ataxia). 3. **X-Linked**: Conditions associated with mutations on the X chromosome (e.g., Fragile X syndrome). Other CNS diseases may have more complex inheritance patterns, including multifactorial inheritance involving multiple genes and environmental factors (e.g., multiple sclerosis). Some may also involve mitochondrial inheritance (e.g., mitochondrial encephalomyopathy).

Predisposition: Medium
Explanation of predisposition: We predict genetic risk by analyzing specific genetic variants within key genes associated with a condition. For each variant, we assess its impact on biological pathways that are known to influence the disease. The prediction takes into account both the clinical significance of each variant and the confidence in the prediction, which is determined by the quality and strength of the supporting scientific data and research.
Associated Genes
Gene Mutation Type Allele Confidence
SDHA Duplication G/T Medium
ACAD9-DT Duplication A/G High
PUM3 Substitution G/A Medium
ZDHHC11 Inversion T/G Medium
ACAD9 Insertion T/A Medium
Population Frequency By Gene

Population frequency indicates how common a specific genetic variant is within a group of people, expressed as a percentage. For example, if a gene variant has a frequency of 20%, it means about 20 out of 100 individuals carry that variant. This information helps researchers understand the potential impact of genetic variants on health and traits within different populations.

Gene Frequency
SDHA 4%
ACAD9-DT 12%
PUM3 18%
ZDHHC11 8%
ACAD9 7%
Associated Pathways

A pathway refers to a series of biochemical reactions and interactions that occur within cells, allowing for communication between genes, proteins, and metabolites. These pathways are crucial for various physiological functions, including neurotransmission, hormone signaling, and metabolic processes, and can influence behaviors and health outcomes when disrupted by genetic mutations.

Pathway Type Effects
REACT:R-HSA-74160 NF-kappa B Signaling Pathway Regulates neurotransmitter release
REACT:R-HSA-1430728 Serotonergic Synapse Involved in cell growth and survival
REACT:R-HSA-76002 PI3K-Akt Signaling Pathway Influences inflammatory response
REACT:R-HSA-611105 Serotonergic Synapse Influences inflammatory response
REACT:R-HSA-114608 Cholinergic Pathway Critical for embryonic development
REACT:R-HSA-76005 TGF-beta Signaling Pathway Controls cell differentiation
Possible Comobordities

Comorbidities are additional health conditions that often occur alongside a primary condition. For example, someone with ADHD may also have other related issues, such as anxiety or learning difficulties. These conditions are linked because they may share similar causes, such as genetics or brain chemistry, making it more likely for a person to experience both at the same time.

Gene Comorbidities Associated Mechanism
SDHA Hypertension Immune system dysfunction
ACAD9-DT Asthma Cellular apoptosis
PUM3 Cancer Inflammation
ZDHHC11 Cancer Immune system dysfunction
ACAD9 Diabetes Cellular apoptosis

Recommendations for Medium Risk for Central Nervous System Disease

  • Consultation: Schedule a follow-up consultation with a primary care provider or genetic counselor.
  • Monitoring: Regularly monitor your health for early signs of the condition associated with your predisposition.
  • Lifestyle Adjustments: Implement moderate lifestyle changes to mitigate risk.
  • Personalized Lifestyle Plan:
    • Maintain a balanced diet rich in whole foods, lean protein, and healthy fats.
    • Engage in regular physical activity, such as walking, swimming, or light strength training.
    • Incorporate stress management techniques like deep breathing exercises or light yoga.
    • Limit alcohol consumption and reduce exposure to pollutants.

    For additional guidance on managing your predisposition: See treatment options for central nervous system diseases.

Next Steps

Learn more about Central Nervous System Disease.

See predicted treatments for central nervous system diseases.

Schedule a consultation with a GeneHealth representative to discuss results.

Brain Diseases, Metabolic

Diseases of metabolism can include various conditions such as metabolic disorders or inborn errors of metabolism. These diseases are typically inherited and most often follow an autosomal recessive pattern of genetic transmission. However, some can be autosomal dominant, X-linked, or mitochondrial, depending on the specific disorder.

Predisposition: Medium
Explanation of predisposition: We predict genetic risk by analyzing specific genetic variants within key genes associated with a condition. For each variant, we assess its impact on biological pathways that are known to influence the disease. The prediction takes into account both the clinical significance of each variant and the confidence in the prediction, which is determined by the quality and strength of the supporting scientific data and research.
Associated Genes
Gene Mutation Type Allele Confidence
SDHA Insertion T/G High
FOXD4 Duplication G/G Medium
SLC12A7 Inversion C/T High
LRPPRC Deletion T/A Medium
ACTN2 Frameshift G/T High
Population Frequency By Gene

Population frequency indicates how common a specific genetic variant is within a group of people, expressed as a percentage. For example, if a gene variant has a frequency of 20%, it means about 20 out of 100 individuals carry that variant. This information helps researchers understand the potential impact of genetic variants on health and traits within different populations.

Gene Frequency
SDHA 15%
FOXD4 23%
SLC12A7 8%
LRPPRC 24%
ACTN2 13%
Associated Pathways

A pathway refers to a series of biochemical reactions and interactions that occur within cells, allowing for communication between genes, proteins, and metabolites. These pathways are crucial for various physiological functions, including neurotransmission, hormone signaling, and metabolic processes, and can influence behaviors and health outcomes when disrupted by genetic mutations.

Pathway Type Effects
REACT:R-HSA-1430728 MAPK Signaling Pathway Impacts cellular stress response
REACT:R-HSA-611105 Glutamatergic Transmission Involved in cell growth and survival
Possible Comobordities

Comorbidities are additional health conditions that often occur alongside a primary condition. For example, someone with ADHD may also have other related issues, such as anxiety or learning difficulties. These conditions are linked because they may share similar causes, such as genetics or brain chemistry, making it more likely for a person to experience both at the same time.

Gene Comorbidities Associated Mechanism
SDHA Coronary Artery Disease Neurodegeneration
FOXD4 Diabetes Hormonal imbalance
SLC12A7 Cancer Oxidative stress
LRPPRC Coronary Artery Disease Metabolic dysregulation
ACTN2 Parkinson's Disease Neurodegeneration

Recommendations for Medium Risk for Disease Of Metabolism

  • Consultation: Schedule a follow-up consultation with a primary care provider or genetic counselor.
  • Monitoring: Regularly monitor your health for early signs of the condition associated with your predisposition.
  • Lifestyle Adjustments: Implement moderate lifestyle changes to mitigate risk.
  • Personalized Lifestyle Plan:
    • Maintain a balanced diet rich in whole foods, lean protein, and healthy fats.
    • Engage in regular physical activity, such as walking, swimming, or light strength training.
    • Incorporate stress management techniques like deep breathing exercises or light yoga.
    • Limit alcohol consumption and reduce exposure to pollutants.

    For additional guidance on managing your predisposition: See treatment options for brain diseases, metabolic.

Next Steps

Learn more about Disease Of Metabolism.

See predicted treatments for brain diseases, metabolic.

Schedule a consultation with a GeneHealth representative to discuss results.

Neuromuscular Diseases

The type of genetic transmission for neuromuscular diseases can vary significantly depending on the specific disease in question. Generally, they can be inherited through different patterns including: 1. **Autosomal Dominant**: Only one copy of the mutated gene is needed to cause the disease. Examples include Myotonic Dystrophy. 2. **Autosomal Recessive**: Two copies of the mutated gene (one from each parent) are required to cause the disease. Examples include Spinal Muscular Atrophy. 3. **X-linked Recessive**: The mutated gene is located on the X chromosome. Since males have one X and one Y chromosome, they are more often affected. Examples include Duchenne Muscular Dystrophy. 4. **Mitochondrial Inheritance**: The mutated genes are located in the mitochondrial DNA, which is inherited from the mother. An example is Mitochondrial Myopathy. The specific type of genetic transmission depends on the particular neuromuscular disease in question.

Predisposition: Medium
Explanation of predisposition: We predict genetic risk by analyzing specific genetic variants within key genes associated with a condition. For each variant, we assess its impact on biological pathways that are known to influence the disease. The prediction takes into account both the clinical significance of each variant and the confidence in the prediction, which is determined by the quality and strength of the supporting scientific data and research.
Associated Genes
Gene Mutation Type Allele Confidence
ACAD9 Frameshift T/T Medium
PUM3 Duplication C/T High
ACAD9-DT Duplication G/C High
ZNF518B Frameshift T/C High
ANK2 Substitution G/C Medium
Population Frequency By Gene

Population frequency indicates how common a specific genetic variant is within a group of people, expressed as a percentage. For example, if a gene variant has a frequency of 20%, it means about 20 out of 100 individuals carry that variant. This information helps researchers understand the potential impact of genetic variants on health and traits within different populations.

Gene Frequency
ACAD9 15%
PUM3 12%
ACAD9-DT 22%
ZNF518B 10%
ANK2 1%
Associated Pathways

A pathway refers to a series of biochemical reactions and interactions that occur within cells, allowing for communication between genes, proteins, and metabolites. These pathways are crucial for various physiological functions, including neurotransmission, hormone signaling, and metabolic processes, and can influence behaviors and health outcomes when disrupted by genetic mutations.

Pathway Type Effects
REACT:R-HSA-1430728 MAPK Signaling Pathway Regulates neurotransmitter release
REACT:R-HSA-76002 Hedgehog Signaling Pathway Plays a role in synaptic plasticity
REACT:R-HSA-611105 Dopaminergic Signaling Impacts cellular stress response
REACT:R-HSA-114608 Cholinergic Pathway Impacts cellular stress response
REACT:R-HSA-76005 GABAergic Signaling Plays a role in synaptic plasticity
Possible Comobordities

Comorbidities are additional health conditions that often occur alongside a primary condition. For example, someone with ADHD may also have other related issues, such as anxiety or learning difficulties. These conditions are linked because they may share similar causes, such as genetics or brain chemistry, making it more likely for a person to experience both at the same time.

Gene Comorbidities Associated Mechanism
ACAD9 Coronary Artery Disease Immune system dysfunction
PUM3 Diabetes Immune system dysfunction
ACAD9-DT Stroke Neurodegeneration
ZNF518B Diabetes Mitochondrial impairment
ANK2 Hypertension Oxidative stress

Recommendations for Medium Risk for Neuromuscular Disease

  • Consultation: Schedule a follow-up consultation with a primary care provider or genetic counselor.
  • Monitoring: Regularly monitor your health for early signs of the condition associated with your predisposition.
  • Lifestyle Adjustments: Implement moderate lifestyle changes to mitigate risk.
  • Personalized Lifestyle Plan:
    • Maintain a balanced diet rich in whole foods, lean protein, and healthy fats.
    • Engage in regular physical activity, such as walking, swimming, or light strength training.
    • Incorporate stress management techniques like deep breathing exercises or light yoga.
    • Limit alcohol consumption and reduce exposure to pollutants.

    For additional guidance on managing your predisposition: See treatment options for neuromuscular diseases.

Next Steps

Learn more about Neuromuscular Disease.

See predicted treatments for neuromuscular diseases.

Schedule a consultation with a GeneHealth representative to discuss results.

Lysosomal Storage Diseases, Nervous System

Lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders characterized by an abnormal build-up of various toxic materials in the body's cells due to enzyme deficiencies. The type of genetic transmission for these diseases is typically autosomal recessive, though some types follow an X-linked recessive pattern.

Predisposition: Medium
Explanation of predisposition: We predict genetic risk by analyzing specific genetic variants within key genes associated with a condition. For each variant, we assess its impact on biological pathways that are known to influence the disease. The prediction takes into account both the clinical significance of each variant and the confidence in the prediction, which is determined by the quality and strength of the supporting scientific data and research.
Associated Genes
Gene Mutation Type Allele Confidence
ZFYVE9 Substitution G/C High
GTPBP8 Deletion A/T Medium
PUM3 Inversion A/C Medium
ANK2 Substitution T/C Medium
SLC12A7 Duplication G/C Medium
Population Frequency By Gene

Population frequency indicates how common a specific genetic variant is within a group of people, expressed as a percentage. For example, if a gene variant has a frequency of 20%, it means about 20 out of 100 individuals carry that variant. This information helps researchers understand the potential impact of genetic variants on health and traits within different populations.

Gene Frequency
ZFYVE9 23%
GTPBP8 21%
PUM3 10%
ANK2 22%
SLC12A7 5%
Associated Pathways

A pathway refers to a series of biochemical reactions and interactions that occur within cells, allowing for communication between genes, proteins, and metabolites. These pathways are crucial for various physiological functions, including neurotransmission, hormone signaling, and metabolic processes, and can influence behaviors and health outcomes when disrupted by genetic mutations.

Pathway Type Effects
REACT:R-HSA-1430728 NF-kappa B Signaling Pathway Critical for embryonic development
REACT:R-HSA-611105 Glutamatergic Transmission Modulates metabolism and energy use
Possible Comobordities

Comorbidities are additional health conditions that often occur alongside a primary condition. For example, someone with ADHD may also have other related issues, such as anxiety or learning difficulties. These conditions are linked because they may share similar causes, such as genetics or brain chemistry, making it more likely for a person to experience both at the same time.

Gene Comorbidities Associated Mechanism
ZFYVE9 Chronic Obstructive Pulmonary Disease (COPD) Immune system dysfunction
GTPBP8 Diabetes Inflammation
PUM3 Asthma Neurodegeneration
ANK2 Depression Immune system dysfunction
SLC12A7 Cancer Metabolic dysregulation

Recommendations for Medium Risk for Lysosomal Storage Disease

  • Consultation: Schedule a follow-up consultation with a primary care provider or genetic counselor.
  • Monitoring: Regularly monitor your health for early signs of the condition associated with your predisposition.
  • Lifestyle Adjustments: Implement moderate lifestyle changes to mitigate risk.
  • Personalized Lifestyle Plan:
    • Maintain a balanced diet rich in whole foods, lean protein, and healthy fats.
    • Engage in regular physical activity, such as walking, swimming, or light strength training.
    • Incorporate stress management techniques like deep breathing exercises or light yoga.
    • Limit alcohol consumption and reduce exposure to pollutants.

    For additional guidance on managing your predisposition: See treatment options for lysosomal storage diseases, nervous system.

Next Steps

Learn more about Lysosomal Storage Disease.

See predicted treatments for lysosomal storage diseases, nervous system.

Schedule a consultation with a GeneHealth representative to discuss results.

Neurologic Manifestations

Lice infestation is caused by an external parasite and is not genetically transmitted.

Predisposition: Medium
Explanation of predisposition: We predict genetic risk by analyzing specific genetic variants within key genes associated with a condition. For each variant, we assess its impact on biological pathways that are known to influence the disease. The prediction takes into account both the clinical significance of each variant and the confidence in the prediction, which is determined by the quality and strength of the supporting scientific data and research.
Associated Genes
Gene Mutation Type Allele Confidence
GSTM4 Frameshift G/T Medium
GRM6 Inversion C/G Medium
FAM110C Duplication G/C High
ACAD9-DT Frameshift T/A High
MRPL36 Frameshift G/G Medium
Population Frequency By Gene

Population frequency indicates how common a specific genetic variant is within a group of people, expressed as a percentage. For example, if a gene variant has a frequency of 20%, it means about 20 out of 100 individuals carry that variant. This information helps researchers understand the potential impact of genetic variants on health and traits within different populations.

Gene Frequency
GSTM4 23%
GRM6 6%
FAM110C 12%
ACAD9-DT 2%
MRPL36 2%
Associated Pathways

A pathway refers to a series of biochemical reactions and interactions that occur within cells, allowing for communication between genes, proteins, and metabolites. These pathways are crucial for various physiological functions, including neurotransmission, hormone signaling, and metabolic processes, and can influence behaviors and health outcomes when disrupted by genetic mutations.

Pathway Type Effects
REACT:R-HSA-1430728 PI3K-Akt Signaling Pathway Modulates metabolism and energy use
REACT:R-HSA-611105 mTOR Signaling Pathway Controls cell differentiation
Possible Comobordities

Comorbidities are additional health conditions that often occur alongside a primary condition. For example, someone with ADHD may also have other related issues, such as anxiety or learning difficulties. These conditions are linked because they may share similar causes, such as genetics or brain chemistry, making it more likely for a person to experience both at the same time.

Gene Comorbidities Associated Mechanism
GSTM4 Hypertension Chronic infection
GRM6 Asthma Metabolic dysregulation
FAM110C Diabetes Neurodegeneration
ACAD9-DT Hypertension Chronic infection
MRPL36 Diabetes Cellular apoptosis

Recommendations for Medium Risk for Lice Infestation

  • Consultation: Schedule a follow-up consultation with a primary care provider or genetic counselor.
  • Monitoring: Regularly monitor your health for early signs of the condition associated with your predisposition.
  • Lifestyle Adjustments: Implement moderate lifestyle changes to mitigate risk.
  • Personalized Lifestyle Plan:
    • Maintain a balanced diet rich in whole foods, lean protein, and healthy fats.
    • Engage in regular physical activity, such as walking, swimming, or light strength training.
    • Incorporate stress management techniques like deep breathing exercises or light yoga.
    • Limit alcohol consumption and reduce exposure to pollutants.

    For additional guidance on managing your predisposition: See treatment options for neurologic manifestations.

Next Steps

Learn more about Lice Infestation.

See predicted treatments for neurologic manifestations.

Schedule a consultation with a GeneHealth representative to discuss results.

Cranial Nerve Diseases

Cranial nerve diseases encompass a variety of conditions that affect the cranial nerves. The type of genetic transmission can vary depending on the specific cranial nerve disease in question. Some cranial nerve diseases may have a genetic component that is inherited in an autosomal dominant, autosomal recessive, or X-linked manner, while others may not be inherited and could result from acquired factors such as infections, trauma, or tumors. Specific examples of inherited cranial nerve disorders include Charcot-Marie-Tooth disease (autosomal dominant or recessive) and certain mitochondrial disorders affecting cranial nerves.

Predisposition: Medium
Explanation of predisposition: We predict genetic risk by analyzing specific genetic variants within key genes associated with a condition. For each variant, we assess its impact on biological pathways that are known to influence the disease. The prediction takes into account both the clinical significance of each variant and the confidence in the prediction, which is determined by the quality and strength of the supporting scientific data and research.
Associated Genes
Gene Mutation Type Allele Confidence
GRM6 Substitution C/G High
PUM3 Inversion A/C High
LRPPRC Duplication A/G High
MROH2B Substitution G/C Medium
ANK2 Substitution T/G Medium
Population Frequency By Gene

Population frequency indicates how common a specific genetic variant is within a group of people, expressed as a percentage. For example, if a gene variant has a frequency of 20%, it means about 20 out of 100 individuals carry that variant. This information helps researchers understand the potential impact of genetic variants on health and traits within different populations.

Gene Frequency
GRM6 3%
PUM3 7%
LRPPRC 13%
MROH2B 5%
ANK2 12%
Associated Pathways

A pathway refers to a series of biochemical reactions and interactions that occur within cells, allowing for communication between genes, proteins, and metabolites. These pathways are crucial for various physiological functions, including neurotransmission, hormone signaling, and metabolic processes, and can influence behaviors and health outcomes when disrupted by genetic mutations.

Pathway Type Effects
REACT:R-HSA-611105 MAPK Signaling Pathway Regulates neurotransmitter release
Possible Comobordities

Comorbidities are additional health conditions that often occur alongside a primary condition. For example, someone with ADHD may also have other related issues, such as anxiety or learning difficulties. These conditions are linked because they may share similar causes, such as genetics or brain chemistry, making it more likely for a person to experience both at the same time.

Gene Comorbidities Associated Mechanism
GRM6 Depression Cellular apoptosis
PUM3 Diabetes Inflammation
LRPPRC Coronary Artery Disease Hormonal imbalance
MROH2B Diabetes Metabolic dysregulation
ANK2 Chronic Obstructive Pulmonary Disease (COPD) Metabolic dysregulation

Recommendations for Medium Risk for Cranial Nerve Disease

  • Consultation: Schedule a follow-up consultation with a primary care provider or genetic counselor.
  • Monitoring: Regularly monitor your health for early signs of the condition associated with your predisposition.
  • Lifestyle Adjustments: Implement moderate lifestyle changes to mitigate risk.
  • Personalized Lifestyle Plan:
    • Maintain a balanced diet rich in whole foods, lean protein, and healthy fats.
    • Engage in regular physical activity, such as walking, swimming, or light strength training.
    • Incorporate stress management techniques like deep breathing exercises or light yoga.
    • Limit alcohol consumption and reduce exposure to pollutants.

    For additional guidance on managing your predisposition: See treatment options for cranial nerve diseases.

Next Steps

Learn more about Cranial Nerve Disease.

See predicted treatments for cranial nerve diseases.

Schedule a consultation with a GeneHealth representative to discuss results.

Spinal Cord Ischemia

Spinal cord disorders can vary widely, and their type and genetic transmission depend on the specific disorder. 1. **Types:** - **Traumatic:** Injuries due to accidents, falls, or violence. - **Infectious:** Conditions caused by infections, e.g., myelitis. - **Degenerative:** Diseases like amyotrophic lateral sclerosis (ALS) or spinal stenosis. - **Congenital:** Disorders present at birth, such as spina bifida. - **Neoplastic:** Tumors affecting the spinal cord. - **Autoimmune:** Conditions like multiple sclerosis (MS). 2. **Type of Genetic Transmission:** - For *familial amyotrophic lateral sclerosis (fALS)*: Typically autosomal dominant, but can also be autosomal recessive or X-linked. - For *hereditary spastic paraplegia (HSP)*: Can be autosomal dominant, autosomal recessive, or X-linked. - For *Friedreich's ataxia*: Autosomal recessive. - For some forms of *spina bifida*: Multifactorial inheritance, often involving both genetic and environmental factors. It’s important to specify the particular spinal cord disorder for more precise information on genetic transmission.

Predisposition: Medium
Explanation of predisposition: We predict genetic risk by analyzing specific genetic variants within key genes associated with a condition. For each variant, we assess its impact on biological pathways that are known to influence the disease. The prediction takes into account both the clinical significance of each variant and the confidence in the prediction, which is determined by the quality and strength of the supporting scientific data and research.
Associated Genes
Gene Mutation Type Allele Confidence
ACAD9-DT Inversion G/G Medium
LRPPRC Substitution A/C High
PHACTR2 Frameshift G/A High
SDHA Inversion A/A High
GRM6 Insertion G/A Medium
Population Frequency By Gene

Population frequency indicates how common a specific genetic variant is within a group of people, expressed as a percentage. For example, if a gene variant has a frequency of 20%, it means about 20 out of 100 individuals carry that variant. This information helps researchers understand the potential impact of genetic variants on health and traits within different populations.

Gene Frequency
ACAD9-DT 15%
LRPPRC 17%
PHACTR2 1%
SDHA 19%
GRM6 23%
Associated Pathways

A pathway refers to a series of biochemical reactions and interactions that occur within cells, allowing for communication between genes, proteins, and metabolites. These pathways are crucial for various physiological functions, including neurotransmission, hormone signaling, and metabolic processes, and can influence behaviors and health outcomes when disrupted by genetic mutations.

Pathway Type Effects
REACT:R-HSA-76005 Glutamatergic Transmission Affects immune response
Possible Comobordities

Comorbidities are additional health conditions that often occur alongside a primary condition. For example, someone with ADHD may also have other related issues, such as anxiety or learning difficulties. These conditions are linked because they may share similar causes, such as genetics or brain chemistry, making it more likely for a person to experience both at the same time.

Gene Comorbidities Associated Mechanism
ACAD9-DT Stroke Inflammation
LRPPRC Depression Hormonal imbalance
PHACTR2 Cancer Metabolic dysregulation
SDHA Coronary Artery Disease Hormonal imbalance
GRM6 Hypertension Inflammation

Recommendations for Medium Risk for Spinal Cord Disorder

  • Consultation: Schedule a follow-up consultation with a primary care provider or genetic counselor.
  • Monitoring: Regularly monitor your health for early signs of the condition associated with your predisposition.
  • Lifestyle Adjustments: Implement moderate lifestyle changes to mitigate risk.
  • Personalized Lifestyle Plan:
    • Maintain a balanced diet rich in whole foods, lean protein, and healthy fats.
    • Engage in regular physical activity, such as walking, swimming, or light strength training.
    • Incorporate stress management techniques like deep breathing exercises or light yoga.
    • Limit alcohol consumption and reduce exposure to pollutants.

    For additional guidance on managing your predisposition: See treatment options for Spinal Cord Ischemia.

Next Steps

Learn more about Spinal Cord Disorder.

See predicted treatments for Spinal Cord Ischemia.

Schedule a consultation with a GeneHealth representative to discuss results.

Appendix

Mutated Genes Found

Diseases Found

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