Hematological Disorders :
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
Hematological Disorders :
The following diseases are associated with Hematological Disorders ::
| Disease | Predisposition |
|---|---|
| Hemic And Lymphatic Diseases | Medium |
| Hematologic Diseases | Medium |
| Blood Coagulation Disorders | Medium |
| Hemorrhagic Disorders | Medium |
| Thrombophilia | Medium |
Hemic And Lymphatic Diseases
Lymphatic system diseases can include a variety of conditions such as lymphedema, lymphangitis, and lymphatic malformations. The type of genetic transmission for some of these diseases, like primary lymphedema, can be autosomal dominant or autosomal recessive, depending on the specific genetic mutation involved. Other lymphatic system diseases may not have a genetic basis and can result from infections, injuries, or other non-genetic factors.
Associated Genes
| Gene | Mutation Type | Allele | Confidence |
|---|---|---|---|
| ZDHHC11 | Deletion | A/G | High |
| ACAD9-DT | Substitution | C/A | High |
| SDHA | Inversion | A/T | Medium |
| MRPL36 | Frameshift | G/G | High |
| TMEM45A | Deletion | C/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 |
|---|---|
| ZDHHC11 | 20% |
| ACAD9-DT | 13% |
| SDHA | 1% |
| MRPL36 | 19% |
| TMEM45A | 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-74160 | Cholinergic Pathway | Modulates metabolism and energy use |
| REACT:R-HSA-76002 | NF-kappa B Signaling Pathway | Controls cell differentiation |
| REACT:R-HSA-114608 | PI3K-Akt Signaling Pathway | Plays a role in synaptic plasticity |
| REACT:R-HSA-76005 | NF-kappa B 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 |
|---|---|---|
| ZDHHC11 | Coronary Artery Disease | Neurodegeneration |
| ACAD9-DT | Hypertension | Neurodegeneration |
| SDHA | Osteoporosis | Immune system dysfunction |
| MRPL36 | Parkinson's Disease | Hormonal imbalance |
| TMEM45A | Hypertension | Hormonal imbalance |
Recommendations for Medium Risk for Lymphatic 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 hemic and lymphatic diseases.
Hematologic Diseases
Hemoglobin C disease is a genetic blood disorder. It is transmitted in an autosomal recessive manner.
Associated Genes
| Gene | Mutation Type | Allele | Confidence |
|---|---|---|---|
| ACTN2 | Deletion | A/C | Medium |
| TMEM45A | Deletion | G/T | Medium |
| FAM110C | Duplication | A/G | Medium |
| ACAD9 | Substitution | C/A | Medium |
| NQO2 | 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 |
|---|---|
| ACTN2 | 20% |
| TMEM45A | 13% |
| FAM110C | 14% |
| ACAD9 | 3% |
| NQO2 | 11% |
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 | Glutamatergic Transmission | Regulates apoptosis and cell death |
| REACT:R-HSA-114608 | Glutamatergic Transmission | Influences inflammatory response |
| REACT:R-HSA-76005 | Dopaminergic Signaling | 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 |
|---|---|---|
| ACTN2 | Chronic Obstructive Pulmonary Disease (COPD) | Neurodegeneration |
| TMEM45A | Chronic Obstructive Pulmonary Disease (COPD) | Oxidative stress |
| FAM110C | Parkinson's Disease | Cellular apoptosis |
| ACAD9 | Stroke | Neurodegeneration |
| NQO2 | Depression | Neurodegeneration |
Recommendations for Medium Risk for Hemoglobin C 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 Hematologic Diseases.
Blood Coagulation Disorders
Blood coagulation diseases can be classified into several types, such as hemophilia, von Willebrand disease, and thrombophilia. - **Hemophilia**: This is typically an X-linked recessive disorder. Hemophilia A and B are caused by mutations in the F8 and F9 genes on the X chromosome, respectively. - **von Willebrand Disease**: This can be inherited in both an autosomal dominant and autosomal recessive manner, depending on the specific type and severity of the disease. - **Thrombophilia**: Many forms of thrombophilia (e.g., Factor V Leiden, Prothrombin G20210A mutation) are inherited in an autosomal dominant pattern. These patterns of inheritance mean that the specific genetic transmission can vary based on the particular blood coagulation disorder.
Associated Genes
| Gene | Mutation Type | Allele | Confidence |
|---|---|---|---|
| ZNF518B | Insertion | G/T | Medium |
| FOXD4 | Substitution | G/C | High |
| GTPBP8 | Substitution | G/T | Medium |
| MRPL36 | Inversion | C/G | High |
| ACTN2 | Inversion | 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 |
|---|---|
| ZNF518B | 13% |
| FOXD4 | 3% |
| GTPBP8 | 1% |
| MRPL36 | 15% |
| ACTN2 | 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-76002 | PI3K-Akt Signaling Pathway | Modulates metabolism and energy use |
| REACT:R-HSA-114608 | Dopaminergic Signaling | Regulates apoptosis and cell death |
| REACT:R-HSA-76005 | PI3K-Akt 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 |
|---|---|---|
| ZNF518B | Hypertension | Oxidative stress |
| FOXD4 | Chronic Obstructive Pulmonary Disease (COPD) | Oxidative stress |
| GTPBP8 | Parkinson's Disease | Chronic infection |
| MRPL36 | Osteoporosis | Neurodegeneration |
| ACTN2 | Asthma | Oxidative stress |
Recommendations for Medium Risk for Blood Coagulation 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 Blood Coagulation Disorders.
Hemorrhagic Disorders
Haemorrhagic disorders can be broadly classified into several types, including hemophilia, von Willebrand disease, and platelet function disorders. The type of genetic transmission varies depending on the specific disorder: - **Hemophilia A and B**: X-linked recessive - **Von Willebrand Disease**: Autosomal dominant (though recessive forms also exist) - **Platelet Function Disorders**: These can have various patterns of transmission, including autosomal dominant, autosomal recessive, and X-linked inheritance, depending on the specific disorder.
Associated Genes
| Gene | Mutation Type | Allele | Confidence |
|---|---|---|---|
| GTPBP8 | Deletion | G/A | Medium |
| PHACTR2 | Insertion | A/A | Medium |
| ACAD9-DT | Duplication | A/G | High |
| SDHA | Deletion | A/C | Medium |
| ZNF518B | 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 |
|---|---|
| GTPBP8 | 22% |
| PHACTR2 | 17% |
| ACAD9-DT | 14% |
| SDHA | 21% |
| ZNF518B | 3% |
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 | mTOR Signaling Pathway | Regulates apoptosis and cell death |
| REACT:R-HSA-114608 | Glutamatergic Transmission | Involved in cell growth and survival |
| REACT:R-HSA-76005 | Wnt 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 |
|---|---|---|
| GTPBP8 | Hypertension | Cellular apoptosis |
| PHACTR2 | Diabetes | Chronic infection |
| ACAD9-DT | Cancer | Cellular apoptosis |
| SDHA | Diabetes | Hormonal imbalance |
| ZNF518B | Osteoporosis | Hormonal imbalance |
Recommendations for Medium Risk for Haemorrhagic 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 Hemorrhagic Disorders.
Thrombophilia
Thrombophilia is typically an inherited or acquired propensity to develop blood clots due to abnormalities in coagulation. The inherited forms are genetic and can follow different patterns of genetic transmission: 1. **Autosomal Dominant Transmission**: This is the most common mode of transmission for inherited thrombophilias. Examples include Factor V Leiden mutation and Prothrombin gene mutation (G20210A). 2. **Autosomal Recessive Transmission**: Less common, but examples include inherited deficiencies of anticoagulant proteins like antithrombin, protein C, and protein S. Acquired thrombophilia is not inherited but can develop due to various conditions such as antiphospholipid syndrome, prolonged immobilization, certain cancers, and other illnesses.
Associated Genes
| Gene | Mutation Type | Allele | Confidence |
|---|---|---|---|
| SLC12A7 | Frameshift | T/A | Medium |
| GRM6 | Deletion | T/T | High |
| ZFYVE9 | Deletion | G/A | Medium |
| ZNF518B | Insertion | T/C | High |
| GSTM4 | Duplication | 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 |
|---|---|
| SLC12A7 | 15% |
| GRM6 | 18% |
| ZFYVE9 | 3% |
| ZNF518B | 22% |
| GSTM4 | 11% |
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 | mTOR Signaling Pathway | Regulates neurotransmitter release |
| REACT:R-HSA-76005 | PI3K-Akt Signaling Pathway | Impacts cellular stress 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 |
|---|---|---|
| SLC12A7 | Asthma | Mitochondrial impairment |
| GRM6 | Hypertension | Genetic predisposition |
| ZFYVE9 | Diabetes | Mitochondrial impairment |
| ZNF518B | Parkinson's Disease | Chronic infection |
| GSTM4 | Cancer | Cellular apoptosis |
Recommendations for Medium Risk for Thrombophilia
- 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 Thrombophilia.
Appendix
Mutated Genes Found
| Gene | Associated Diseases | Chromosome Position |
|---|---|---|
| SLC12A7 |
|
Chr14:13171647 |
| ANK2 |
|
Chr18:28385135 |
| ZFYVE9 |
|
Chr17:24388021 |
| FOXD4 |
|
ChrX:38843680 |
| ACAD9-DT |
|
Chr17:82084207 |
| PUM3 |
|
Chr4:12317570 |
| MRPL36 |
|
Chr20:28781077 |
| GSTM4 |
|
Chr3:34056032 |
| TMEM45A |
|
Chr14:83497418 |
| ZDHHC11 |
|
Chr4:30789826 |
| ZNF518B |
|
Chr9:88681807 |
| GTPBP8 |
|
Chr14:68400169 |
| PHACTR2 |
|
Chr9:45536418 |
| MROH2B |
|
Chr22:25788706 |
| GRM6 |
|
Chr1:27063018 |
| NQO2 |
|
Chr11:69926189 |
| SDHA |
|
Chr22:65094522 |
| ACAD9 |
|
Chr1:25422704 |
| LRPPRC |
|
Chr10:40223516 |
| ACTN2 |
|
Chr21:36751512 |
| FAM110C |
|
Chr15:87874615 |
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 |