Heart Health (cardiovascular Diseases)
Explore Genetic Insights
Summary
| Diseases Found | 46 |
| High Risk | 1 |
| Medium Risk | 43 |
| Low Risk | 2 |
| Mutated Genes Found | 21 |
Contents
- Autoimmune Disorders Page 1
- Brain Health (Neurological Disorders) Page 2
- Cancers (Neoplastic Diseases) Page 3
- Dermatological Diseases Page 4
- Endocrine Disorders Page 5
- Gastrointestinal Disorders Page 6
- Genitourinary Disorders Page 7
- Heart Health (Cardiovascular Diseases) Page 8
- Hematological Disorders Page 9
- Metabolic Disorders Page 10
- Musculoskeletal Diseases Page 11
- Obstetric and Gynecological Disorders Page 12
- Ophthalmological Diseases Page 13
- Appendix
Heart Health (Cardiovascular Diseases)
The following diseases are associated with Heart Health (Cardiovascular Diseases):
| Disease | Predisposition |
|---|---|
| Cardiovascular Abnormalities | Medium |
| Cardiomyopathy, Hypertrophic | Medium |
| Vascular Diseases | Medium |
| Hypertension | Medium |
| Coronary Artery Disease | Medium |
Cardiovascular Abnormalities
Cardiovascular phenotypes can refer to a range of physical characteristics or conditions related to the heart and blood vessels. These phenotypes can be influenced by multiple genetic factors. The type of genetic transmission can vary depending on the specific phenotype or condition. Some cardiovascular conditions are inherited in a Mendelian fashion: 1. Autosomal Dominant: Conditions like Hypertrophic Cardiomyopathy or Marfan Syndrome often follow this pattern. 2. Autosomal Recessive: Certain forms of congenital heart defects can follow this pattern. 3. X-linked: Conditions like some forms of dilated cardiomyopathy can be X-linked. Additionally, many cardiovascular phenotypes are influenced by complex inheritance patterns involving multiple genes and environmental factors.
Associated Genes
| Gene | Mutation Type | Allele | Confidence |
|---|---|---|---|
| MROH2B | Substitution | T/G | Medium |
| GTPBP8 | Frameshift | A/A | High |
| SLC12A7 | Insertion | A/C | High |
| PHACTR2 | Deletion | T/T | High |
| LRPPRC | Duplication | 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 |
|---|---|
| MROH2B | 13% |
| GTPBP8 | 9% |
| SLC12A7 | 7% |
| PHACTR2 | 22% |
| LRPPRC | 21% |
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 | PI3K-Akt Signaling 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 |
|---|---|---|
| MROH2B | Coronary Artery Disease | Metabolic dysregulation |
| GTPBP8 | Parkinson's Disease | Hormonal imbalance |
| SLC12A7 | Chronic Obstructive Pulmonary Disease (COPD) | Mitochondrial impairment |
| PHACTR2 | Diabetes | Metabolic dysregulation |
| LRPPRC | Chronic Obstructive Pulmonary Disease (COPD) | Immune system dysfunction |
Recommendations for Medium Risk for Cardiovascular Phenotype
- 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 Cardiovascular Abnormalities.
Cardiomyopathy, Hypertrophic
Cardiomyopathy can generally be categorized into a few primary types: 1. Dilated Cardiomyopathy (DCM) 2. Hypertrophic Cardiomyopathy (HCM) 3. Restrictive Cardiomyopathy (RCM) 4. Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) The primary type of genetic transmission for cardiomyopathies tends to be autosomal dominant. However, autosomal recessive, X-linked, and mitochondrial inheritance patterns can also occur, depending on the specific gene mutations involved.
Associated Genes
| Gene | Mutation Type | Allele | Confidence |
|---|---|---|---|
| FOXD4 | Duplication | T/G | Medium |
| GSTM4 | Substitution | G/A | Medium |
| SDHA | Duplication | C/C | High |
| TMEM45A | Frameshift | A/A | Medium |
| ZDHHC11 | Substitution | A/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 |
|---|---|
| FOXD4 | 11% |
| GSTM4 | 16% |
| SDHA | 21% |
| TMEM45A | 7% |
| ZDHHC11 | 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-6805567 | 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 |
|---|---|---|
| FOXD4 | Stroke | Immune system dysfunction |
| GSTM4 | Cancer | Chronic infection |
| SDHA | Parkinson's Disease | Oxidative stress |
| TMEM45A | Cancer | Hormonal imbalance |
| ZDHHC11 | Coronary Artery Disease | Neurodegeneration |
Recommendations for Medium Risk for Cardiomyopathy
- 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 Cardiomyopathy, Hypertrophic.
Vascular Diseases
Vascular diseases are typically not classified as a single type since they include various conditions that affect the blood vessels. However, many vascular diseases are influenced by both genetic and environmental factors. The type of genetic transmission can vary depending on the specific vascular condition. For example: - Familial Hypercholesterolemia (a risk factor for atherosclerosis) follows an autosomal dominant pattern. - Marfan Syndrome (which can involve vascular complications such as aortic aneurysms) follows an autosomal dominant pattern. - Hereditary Hemorrhagic Telangiectasia (also known as Osler-Weber-Rendu syndrome) follows an autosomal dominant pattern. Specific genetic conditions contributing to vascular diseases tend to follow Mendelian inheritance patterns, primarily autosomal dominant, but the presence of the disease may also depend on other genetic, environmental, and lifestyle factors.
Associated Genes
| Gene | Mutation Type | Allele | Confidence |
|---|---|---|---|
| LRPPRC | Frameshift | C/G | High |
| ZNF518B | Inversion | C/G | Medium |
| TMEM45A | Insertion | A/C | Medium |
| GSTM4 | Duplication | A/C | High |
| PHACTR2 | Duplication | G/G | 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 |
|---|---|
| LRPPRC | 7% |
| ZNF518B | 4% |
| TMEM45A | 6% |
| GSTM4 | 25% |
| PHACTR2 | 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-76002 | TGF-beta Signaling Pathway | Critical for embryonic development |
| REACT:R-HSA-611105 | Glutamatergic Transmission | Plays a role in synaptic plasticity |
| REACT:R-HSA-114608 | PI3K-Akt Signaling Pathway | Involved in cell growth and survival |
| REACT:R-HSA-76005 | Cholinergic 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 |
|---|---|---|
| LRPPRC | Cancer | Cellular apoptosis |
| ZNF518B | Coronary Artery Disease | Oxidative stress |
| TMEM45A | Stroke | Oxidative stress |
| GSTM4 | Osteoporosis | Metabolic dysregulation |
| PHACTR2 | Coronary Artery Disease | Metabolic dysregulation |
Recommendations for Medium Risk for Vascular 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 Vascular Diseases.
Hypertension
Hypertension, or high blood pressure, is typically categorized into two types: primary (essential) hypertension and secondary hypertension. Primary hypertension is the most common type and has no identifiable cause, often associated with genetic and lifestyle factors. The genetic transmission of primary hypertension is complex and not linked to a single gene, but rather involves multiple genes that may interact with environmental factors. Secondary hypertension is less common and results from an underlying condition such as kidney disease or endocrine disorders. The genetic transmission of secondary hypertension can vary depending on the underlying cause. If the underlying condition has a genetic component, then secondary hypertension could also follow a similar pattern of inheritance.
Associated Genes
| Gene | Mutation Type | Allele | Confidence |
|---|---|---|---|
| ACAD9-DT | Frameshift | T/G | Medium |
| TMEM45A | Inversion | C/T | High |
| GRM6 | Insertion | T/G | High |
| NQO2 | Duplication | C/C | High |
| ZNF518B | Deletion | T/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 |
|---|---|
| ACAD9-DT | 24% |
| TMEM45A | 14% |
| GRM6 | 13% |
| NQO2 | 11% |
| ZNF518B | 4% |
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-76002 | GABAergic Signaling | Plays a role in synaptic plasticity |
| REACT:R-HSA-114608 | Serotonergic Synapse | Regulates apoptosis and cell death |
| REACT:R-HSA-76005 | Hedgehog Signaling Pathway | Influences inflammatory 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 | Osteoporosis | Immune system dysfunction |
| TMEM45A | Chronic Obstructive Pulmonary Disease (COPD) | Genetic predisposition |
| GRM6 | Chronic Obstructive Pulmonary Disease (COPD) | Chronic infection |
| NQO2 | Depression | Oxidative stress |
| ZNF518B | Asthma | Neurodegeneration |
Recommendations for Medium Risk for Hypertension
- 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 Hypertension.
Coronary Artery Disease
Coronary artery disease (CAD) is a multifactorial disease, meaning it results from a combination of genetic and environmental factors. The genetic transmission of CAD does not follow a simple Mendelian pattern but is influenced by multiple genes, each contributing a small amount to the overall risk. Common genetic variations, such as single nucleotide polymorphisms (SNPs), can increase susceptibility to CAD, especially when combined with lifestyle factors like diet, smoking, and physical inactivity.
Associated Genes
| Gene | Mutation Type | Allele | Confidence |
|---|---|---|---|
| GTPBP8 | Inversion | A/A | High |
| SLC12A7 | Inversion | A/G | High |
| MRPL36 | Deletion | A/C | Medium |
| ZDHHC11 | Insertion | A/A | Medium |
| GSTM4 | Substitution | A/G | 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 |
|---|---|
| GTPBP8 | 7% |
| SLC12A7 | 1% |
| MRPL36 | 11% |
| ZDHHC11 | 6% |
| GSTM4 | 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-114608 | Wnt Signaling Pathway | Modulates metabolism and energy use |
| REACT:R-HSA-76005 | Cholinergic Pathway | Influences inflammatory 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 |
|---|---|---|
| GTPBP8 | Chronic Obstructive Pulmonary Disease (COPD) | Inflammation |
| SLC12A7 | Chronic Obstructive Pulmonary Disease (COPD) | Metabolic dysregulation |
| MRPL36 | Stroke | Inflammation |
| ZDHHC11 | Chronic Obstructive Pulmonary Disease (COPD) | Cellular apoptosis |
| GSTM4 | Asthma | Chronic infection |
Recommendations for Medium Risk for Coronary Artery 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 Coronary Artery Disease.
Appendix
Mutated Genes Found
| Gene | Associated Diseases | Chromosome Position |
|---|---|---|
| SLC12A7 |
|
Chr13:77653628 |
| ANK2 |
|
Chr4:61194556 |
| ZFYVE9 |
|
Chr6:54282573 |
| FOXD4 |
|
Chr2:25856835 |
| ACAD9-DT |
|
Chr11:50042917 |
| PUM3 |
|
Chr22:14249538 |
| MRPL36 |
|
ChrY:74672561 |
| GSTM4 |
|
Chr17:46479870 |
| TMEM45A |
|
Chr9:28808765 |
| ZDHHC11 |
|
ChrY:75403883 |
| ZNF518B |
|
Chr11:73707167 |
| GTPBP8 |
|
Chr17:58864512 |
| PHACTR2 |
|
Chr8:37248489 |
| MROH2B |
|
ChrX:99666075 |
| GRM6 |
|
Chr21:92030012 |
| NQO2 |
|
Chr12:16503135 |
| SDHA |
|
Chr14:88874776 |
| ACAD9 |
|
Chr5:49280090 |
| LRPPRC |
|
Chr18:62517491 |
| ACTN2 |
|
Chr10:97187929 |
| FAM110C |
|
Chr2:99212862 |
Diseases Found
| Disease | Category | Predisposition |
|---|---|---|
| immune system diseases | Autoimmune Disorders : | Medium |
| Autoimmune Diseases | Autoimmune Disorders : | Medium |
| Connective Tissue Diseases | Autoimmune Disorders : | Low |
| demyelinating autoimmune diseases, cns | Autoimmune Disorders : | Low |
| Alzheimer Disease | Brain Health (Neurological Disorders) | High |
| Nervous System Diseases | Brain Health (Neurological Disorders) | Medium |
| Neurodegenerative Diseases | Brain Health (Neurological Disorders) | Medium |
| Cerebrovascular Disorders | Brain Health (Neurological Disorders) | Medium |
| central nervous system diseases | Brain Health (Neurological Disorders) | Medium |
| brain diseases, metabolic | Brain Health (Neurological Disorders) | Medium |
| neuromuscular diseases | Brain Health (Neurological Disorders) | Medium |
| lysosomal storage diseases, nervous system | Brain Health (Neurological Disorders) | Medium |
| neurologic manifestations | Brain Health (Neurological Disorders) | Medium |
| cranial nerve diseases | Brain Health (Neurological Disorders) | Medium |
| Spinal Cord Ischemia | Brain Health (Neurological Disorders) | Medium |
| genital neoplasms, male | Cancers (Neoplastic Diseases) | Medium |
| Prostatic Neoplasms | Cancers (Neoplastic Diseases) | Medium |
| Breast Neoplasms | Cancers (Neoplastic Diseases) | Medium |
| Gastrointestinal Neoplasms | Cancers (Neoplastic Diseases) | Medium |
| Digestive System Neoplasms | Cancers (Neoplastic Diseases) | Medium |
| skin and connective tissue diseases | Dermatological Diseases : | Medium |
| Endocrine System Diseases | Endocrine Disorders : | Medium |
| digestive system diseases | Gastrointestinal Disorders : | Medium |
| Gastrointestinal Diseases | Gastrointestinal Disorders : | Medium |
| Intestinal Diseases | Gastrointestinal Disorders : | Medium |
| Male Urogenital Diseases | Genitourinary Disorders : | Medium |
| Cardiovascular Abnormalities | Heart Health (Cardiovascular Diseases) | Medium |
| Cardiomyopathy, Hypertrophic | Heart Health (Cardiovascular Diseases) | Medium |
| Vascular Diseases | Heart Health (Cardiovascular Diseases) | Medium |
| Hypertension | Heart Health (Cardiovascular Diseases) | Medium |
| Coronary Artery Disease | Heart Health (Cardiovascular Diseases) | Medium |
| hemic and lymphatic diseases | Hematological Disorders : | Medium |
| Hematologic Diseases | Hematological Disorders : | Medium |
| Blood Coagulation Disorders | Hematological Disorders : | Medium |
| Hemorrhagic Disorders | Hematological Disorders : | Medium |
| Thrombophilia | Hematological Disorders : | Medium |
| carbohydrate metabolism, inborn errors | Metabolic Disorders : | Medium |
| lipid metabolism disorders | Metabolic Disorders : | Medium |
| lipidoses | Metabolic Disorders : | Medium |
| Obesity | Metabolic Disorders : | Medium |
| Diabetes Mellitus, Type 1 | Metabolic Disorders : | Medium |
| Lipid Metabolism, Inborn Errors | Metabolic Disorders : | Medium |
| musculoskeletal diseases | Musculoskeletal Diseases : | Medium |
| Muscular Diseases | Musculoskeletal Diseases : | Medium |
| female urogenital diseases and pregnancy complications | Obstetric and Gynecological Disorders : | Medium |
| female urogenital diseases and pregnancy complications | Ophthalmological Diseases : | Medium |