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Metabolic Disorders :

Explore Genetic Insights

Summary

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

Contents

Metabolic Disorders :

The following diseases are associated with Metabolic Disorders ::

Disease Predisposition
Carbohydrate Metabolism, Inborn Errors Medium
Lipid Metabolism Disorders Medium
Lipidoses Medium
Obesity Medium
Diabetes Mellitus, Type 1 Medium
Lipid Metabolism, Inborn Errors Medium

Carbohydrate Metabolism, Inborn Errors

Type of carbohydrate metabolic disorder: Several, including but not limited to: 1. Glycogen storage diseases (GSD) 2. Galactosemia 3. Fructose intolerance Type of genetic transmission: Mostly autosomal recessive.

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
MROH2B Substitution A/T Medium
ACAD9 Substitution A/G Medium
SLC12A7 Deletion G/T High
GSTM4 Duplication A/A Medium
ACTN2 Substitution C/C 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
MROH2B 14%
ACAD9 6%
SLC12A7 21%
GSTM4 19%
ACTN2 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-1430728 Glutamatergic Transmission Plays a role in synaptic plasticity
REACT:R-HSA-611105 Dopaminergic 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
MROH2B Coronary Artery Disease Chronic infection
ACAD9 Stroke Neurodegeneration
SLC12A7 Asthma Immune system dysfunction
GSTM4 Stroke Cellular apoptosis
ACTN2 Parkinson's Disease Chronic infection

Recommendations for Medium Risk for Carbohydrate Metabolic 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 carbohydrate metabolism, inborn errors.

Next Steps

Learn more about Carbohydrate Metabolic Disorder.

See predicted treatments for carbohydrate metabolism, inborn errors.

Schedule a consultation with a GeneHealth representative to discuss results.

Lipid Metabolism Disorders

Lipid metabolism disorders can be of various types, including: 1. Hyperlipidemia (e.g., familial hypercholesterolemia) 2. Lipid storage diseases (e.g., Gaucher's disease, Niemann-Pick disease) 3. Disorders of fatty acid oxidation (e.g., Medium-chain acyl-CoA dehydrogenase deficiency, MCAD) Type of genetic transmission: - Many lipid metabolism disorders are inherited in an autosomal recessive manner, where both copies of the gene must be mutated for the disorder to be expressed. - Some, like familial hypercholesterolemia, can be inherited in an autosomal dominant manner, where only one copy of the mutated gene is sufficient to cause the 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
ZNF518B Inversion C/G Medium
FOXD4 Deletion T/A High
GSTM4 Deletion A/G Medium
SDHA Inversion G/T High
TMEM45A Inversion T/T 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
ZNF518B 17%
FOXD4 3%
GSTM4 17%
SDHA 17%
TMEM45A 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-1430728 Wnt 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
ZNF518B Depression Cellular apoptosis
FOXD4 Depression Oxidative stress
GSTM4 Parkinson's Disease Metabolic dysregulation
SDHA Depression Hormonal imbalance
TMEM45A Depression Chronic infection

Recommendations for Medium Risk for Lipid Metabolism 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 lipid metabolism disorders.

Next Steps

Learn more about Lipid Metabolism Disorder.

See predicted treatments for lipid metabolism disorders.

Schedule a consultation with a GeneHealth representative to discuss results.

Lipidoses

Mucolipidosis is classified into several types (I, II, III, and IV) based on the specific enzyme deficiency and clinical presentation. The types of genetic transmission for mucolipidosis are as follows: - Mucolipidosis I: Autosomal recessive - Mucolipidosis II (I-cell disease) and III (pseudo-Hurler polydystrophy): Autosomal recessive - Mucolipidosis IV: Autosomal recessive

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
FAM110C Duplication C/T High
SDHA Insertion G/T Medium
MROH2B Deletion T/A Medium
SLC12A7 Substitution T/A High
ZNF518B Duplication G/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
FAM110C 10%
SDHA 14%
MROH2B 2%
SLC12A7 7%
ZNF518B 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-1430728 mTOR 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
FAM110C Parkinson's Disease Inflammation
SDHA Diabetes Mitochondrial impairment
MROH2B Stroke Chronic infection
SLC12A7 Stroke Metabolic dysregulation
ZNF518B Chronic Obstructive Pulmonary Disease (COPD) Mitochondrial impairment

Recommendations for Medium Risk for Mucolipidosis

  • 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 lipidoses.

Next Steps

Learn more about Mucolipidosis.

See predicted treatments for lipidoses.

Schedule a consultation with a GeneHealth representative to discuss results.

Obesity

Obesity can have a multifactorial genetic transmission. It is influenced by a combination of multiple genes and environmental factors, rather than being transmitted through a simple Mendelian inheritance pattern. Specific genetic variations, such as those in the FTO gene, can increase susceptibility to obesity, but lifestyle and environmental factors play significant roles as well.

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
ZNF518B Frameshift T/G High
ZFYVE9 Inversion A/A Medium
GRM6 Substitution C/T Medium
GTPBP8 Duplication C/T Medium
FOXD4 Deletion C/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
ZNF518B 7%
ZFYVE9 2%
GRM6 20%
GTPBP8 5%
FOXD4 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-114608 mTOR Signaling Pathway Impacts cellular stress response
REACT:R-HSA-76005 GABAergic Signaling 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
ZNF518B Diabetes Oxidative stress
ZFYVE9 Stroke Hormonal imbalance
GRM6 Chronic Obstructive Pulmonary Disease (COPD) Oxidative stress
GTPBP8 Osteoporosis Oxidative stress
FOXD4 Coronary Artery Disease Immune system dysfunction

Recommendations for Medium Risk for Obesity

  • 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 Obesity.

Next Steps

Learn more about Obesity.

See predicted treatments for Obesity.

Schedule a consultation with a GeneHealth representative to discuss results.

Diabetes Mellitus, Type 1

Diabetes mellitus includes several types, primarily Type 1 diabetes and Type 2 diabetes. - Type 1 diabetes: This type has an autoimmune component and is influenced by multiple genes. It is typically inherited in a polygenic manner, meaning several genes may contribute to the risk. - Type 2 diabetes: This type is more strongly associated with lifestyle factors but also has a genetic component. It is also inherited in a polygenic manner, with multiple genes contributing to the overall risk. Gestational diabetes and other forms can also have genetic predispositions but are influenced by additional specific factors.

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/A Medium
PHACTR2 Inversion C/T Medium
ACTN2 Substitution A/T High
PUM3 Frameshift T/G Medium
ZDHHC11 Deletion C/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
GRM6 8%
PHACTR2 15%
ACTN2 20%
PUM3 10%
ZDHHC11 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-114608 mTOR 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
GRM6 Hypertension Oxidative stress
PHACTR2 Parkinson's Disease Genetic predisposition
ACTN2 Stroke Chronic infection
PUM3 Stroke Cellular apoptosis
ZDHHC11 Chronic Obstructive Pulmonary Disease (COPD) Inflammation

Recommendations for Medium Risk for Diabetes Mellitus

  • 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 Diabetes Mellitus, Type 1.

Next Steps

Learn more about Diabetes Mellitus.

See predicted treatments for Diabetes Mellitus, Type 1.

Schedule a consultation with a GeneHealth representative to discuss results.

Lipid Metabolism, Inborn Errors

Lipid metabolism disorders can be of various types, including: 1. Hyperlipidemia (e.g., familial hypercholesterolemia) 2. Lipid storage diseases (e.g., Gaucher's disease, Niemann-Pick disease) 3. Disorders of fatty acid oxidation (e.g., Medium-chain acyl-CoA dehydrogenase deficiency, MCAD) Type of genetic transmission: - Many lipid metabolism disorders are inherited in an autosomal recessive manner, where both copies of the gene must be mutated for the disorder to be expressed. - Some, like familial hypercholesterolemia, can be inherited in an autosomal dominant manner, where only one copy of the mutated gene is sufficient to cause the 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
MROH2B Frameshift A/C High
ACTN2 Inversion T/T High
ACAD9 Deletion T/A Medium
ZDHHC11 Substitution C/C High
ACAD9-DT Duplication C/T 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 2%
ACTN2 25%
ACAD9 11%
ZDHHC11 20%
ACAD9-DT 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-1430728 Wnt Signaling Pathway Regulates apoptosis and cell death
REACT:R-HSA-611105 Cholinergic Pathway Influences inflammatory response
REACT:R-HSA-114608 PI3K-Akt Signaling Pathway Affects immune response
REACT:R-HSA-76005 Notch Signaling Pathway 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
MROH2B Parkinson's Disease Mitochondrial impairment
ACTN2 Osteoporosis Mitochondrial impairment
ACAD9 Stroke Immune system dysfunction
ZDHHC11 Coronary Artery Disease Genetic predisposition
ACAD9-DT Hypertension Cellular apoptosis

Recommendations for Medium Risk for Lipid Metabolism 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 Lipid Metabolism, Inborn Errors.

Next Steps

Learn more about Lipid Metabolism Disorder.

See predicted treatments for Lipid Metabolism, Inborn Errors.

Schedule a consultation with a GeneHealth representative to discuss results.

Appendix

Mutated Genes Found

Diseases Found

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