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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 Duplication A/T High
ACAD9 Insertion T/C Medium
SLC12A7 Substitution C/T Medium
GSTM4 Duplication A/G Medium
ACTN2 Frameshift A/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
MROH2B 19%
ACAD9 5%
SLC12A7 14%
GSTM4 6%
ACTN2 22%
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 Dopaminergic Signaling Impacts cellular stress response
REACT:R-HSA-611105 NF-kappa B 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
MROH2B Cancer Chronic infection
ACAD9 Asthma Oxidative stress
SLC12A7 Stroke Oxidative stress
GSTM4 Parkinson's Disease Metabolic dysregulation
ACTN2 Osteoporosis Oxidative stress

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 Substitution G/G Medium
FOXD4 Inversion C/A Medium
GSTM4 Duplication A/T Medium
SDHA Duplication A/C Medium
TMEM45A Insertion 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
ZNF518B 6%
FOXD4 5%
GSTM4 22%
SDHA 14%
TMEM45A 20%
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 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 Parkinson's Disease Cellular apoptosis
FOXD4 Chronic Obstructive Pulmonary Disease (COPD) Metabolic dysregulation
GSTM4 Coronary Artery Disease Neurodegeneration
SDHA Parkinson's Disease Oxidative stress
TMEM45A Depression 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 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 Frameshift G/G High
SDHA Duplication C/A Medium
MROH2B Duplication T/C Medium
SLC12A7 Duplication A/T Medium
ZNF518B 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
FAM110C 11%
SDHA 25%
MROH2B 9%
SLC12A7 21%
ZNF518B 25%
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 Notch Signaling Pathway 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
FAM110C Asthma Genetic predisposition
SDHA Chronic Obstructive Pulmonary Disease (COPD) Cellular apoptosis
MROH2B Osteoporosis Oxidative stress
SLC12A7 Chronic Obstructive Pulmonary Disease (COPD) Chronic infection
ZNF518B Hypertension Metabolic dysregulation

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 Duplication C/C Medium
ZFYVE9 Inversion A/A High
GRM6 Substitution C/T Medium
GTPBP8 Inversion C/C High
FOXD4 Deletion A/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
ZNF518B 16%
ZFYVE9 21%
GRM6 21%
GTPBP8 4%
FOXD4 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-114608 Adrenergic Receptor Signaling Plays a role in synaptic plasticity
REACT:R-HSA-76005 Adrenergic Receptor Signaling 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 Mitochondrial impairment
ZFYVE9 Diabetes Chronic infection
GRM6 Asthma Inflammation
GTPBP8 Cancer Mitochondrial impairment
FOXD4 Cancer Mitochondrial impairment

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 Duplication C/A High
PHACTR2 Duplication G/T Medium
ACTN2 Substitution G/T High
PUM3 Substitution G/T High
ZDHHC11 Insertion 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
GRM6 14%
PHACTR2 22%
ACTN2 22%
PUM3 22%
ZDHHC11 14%
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 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
GRM6 Depression Mitochondrial impairment
PHACTR2 Hypertension Immune system dysfunction
ACTN2 Osteoporosis Genetic predisposition
PUM3 Diabetes Inflammation
ZDHHC11 Osteoporosis Chronic infection

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 Deletion A/T High
ACTN2 Deletion C/T Medium
ACAD9 Inversion T/A High
ZDHHC11 Deletion G/T High
ACAD9-DT Deletion 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
MROH2B 8%
ACTN2 22%
ACAD9 6%
ZDHHC11 3%
ACAD9-DT 17%
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 TGF-beta Signaling Pathway Modulates metabolism and energy use
REACT:R-HSA-611105 Dopaminergic Signaling Critical for embryonic development
REACT:R-HSA-114608 NF-kappa B Signaling Pathway Impacts cellular stress response
REACT:R-HSA-76005 NF-kappa B Signaling Pathway 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
MROH2B Osteoporosis Chronic infection
ACTN2 Asthma Immune system dysfunction
ACAD9 Asthma Immune system dysfunction
ZDHHC11 Diabetes Mitochondrial impairment
ACAD9-DT Cancer Oxidative stress

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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