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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 Insertion T/C High
ACAD9 Substitution G/C High
SLC12A7 Insertion T/T High
GSTM4 Deletion T/G Medium
ACTN2 Inversion 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
MROH2B 22%
ACAD9 5%
SLC12A7 10%
GSTM4 3%
ACTN2 1%
Associated Pathways

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

Pathway Type Effects
REACT:R-HSA-1430728 Serotonergic Synapse Critical for embryonic development
REACT:R-HSA-611105 Glutamatergic Transmission 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
MROH2B Coronary Artery Disease Mitochondrial impairment
ACAD9 Diabetes Cellular apoptosis
SLC12A7 Hypertension Immune system dysfunction
GSTM4 Hypertension Immune system dysfunction
ACTN2 Asthma Genetic predisposition

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/A High
FOXD4 Duplication C/C Medium
GSTM4 Duplication G/G High
SDHA Insertion C/A Medium
TMEM45A Deletion A/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 23%
FOXD4 15%
GSTM4 23%
SDHA 18%
TMEM45A 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-1430728 Serotonergic Synapse 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
ZNF518B Diabetes Metabolic dysregulation
FOXD4 Osteoporosis Hormonal imbalance
GSTM4 Parkinson's Disease Cellular apoptosis
SDHA Asthma Neurodegeneration
TMEM45A Chronic Obstructive Pulmonary Disease (COPD) 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 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/A High
SDHA Duplication G/G Medium
MROH2B Inversion T/C Medium
SLC12A7 Inversion A/G Medium
ZNF518B Substitution C/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
FAM110C 7%
SDHA 21%
MROH2B 17%
SLC12A7 20%
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-1430728 Serotonergic Synapse 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
FAM110C Chronic Obstructive Pulmonary Disease (COPD) Hormonal imbalance
SDHA Coronary Artery Disease Cellular apoptosis
MROH2B Hypertension Mitochondrial impairment
SLC12A7 Coronary Artery Disease Mitochondrial impairment
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 Deletion C/T High
ZFYVE9 Deletion G/G High
GRM6 Deletion G/T High
GTPBP8 Deletion G/G High
FOXD4 Duplication 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 1%
ZFYVE9 12%
GRM6 15%
GTPBP8 11%
FOXD4 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 NF-kappa B Signaling Pathway Regulates neurotransmitter release
REACT:R-HSA-76005 GABAergic Signaling 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
ZNF518B Depression Neurodegeneration
ZFYVE9 Cancer Immune system dysfunction
GRM6 Stroke Immune system dysfunction
GTPBP8 Diabetes Neurodegeneration
FOXD4 Chronic Obstructive Pulmonary Disease (COPD) Oxidative stress

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 T/G Medium
PHACTR2 Substitution G/T High
ACTN2 Substitution A/C Medium
PUM3 Frameshift A/C Medium
ZDHHC11 Duplication G/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
GRM6 4%
PHACTR2 23%
ACTN2 9%
PUM3 25%
ZDHHC11 9%
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 Hedgehog 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
GRM6 Cancer Inflammation
PHACTR2 Stroke Neurodegeneration
ACTN2 Asthma Inflammation
PUM3 Osteoporosis Oxidative stress
ZDHHC11 Cancer Genetic predisposition

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 Insertion C/A Medium
ACTN2 Frameshift T/T High
ACAD9 Frameshift A/G High
ZDHHC11 Deletion A/G Medium
ACAD9-DT Inversion C/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
MROH2B 20%
ACTN2 2%
ACAD9 23%
ZDHHC11 22%
ACAD9-DT 10%
Associated Pathways

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

Pathway Type Effects
REACT:R-HSA-1430728 MAPK Signaling Pathway Controls cell differentiation
REACT:R-HSA-611105 MAPK Signaling Pathway Critical for embryonic development
REACT:R-HSA-114608 MAPK Signaling Pathway Critical for embryonic development
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 Asthma Immune system dysfunction
ACTN2 Cancer Metabolic dysregulation
ACAD9 Cancer Hormonal imbalance
ZDHHC11 Depression Neurodegeneration
ACAD9-DT Asthma 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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