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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 G/C Medium
ACAD9 Frameshift G/C Medium
SLC12A7 Deletion A/A Medium
GSTM4 Inversion T/T Medium
ACTN2 Inversion 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
MROH2B 22%
ACAD9 21%
SLC12A7 1%
GSTM4 13%
ACTN2 24%
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 Adrenergic Receptor Signaling Plays a role in synaptic plasticity
REACT:R-HSA-611105 NF-kappa B 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
MROH2B Depression Cellular apoptosis
ACAD9 Cancer Chronic infection
SLC12A7 Stroke Chronic infection
GSTM4 Asthma Inflammation
ACTN2 Hypertension Inflammation

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 Deletion G/C High
FOXD4 Duplication A/C Medium
GSTM4 Substitution A/C Medium
SDHA Frameshift C/G Medium
TMEM45A Substitution A/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 22%
FOXD4 9%
GSTM4 15%
SDHA 24%
TMEM45A 15%
Associated Pathways

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

Pathway Type Effects
REACT:R-HSA-1430728 MAPK Signaling Pathway 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
ZNF518B Cancer Genetic predisposition
FOXD4 Depression Genetic predisposition
GSTM4 Osteoporosis Chronic infection
SDHA Diabetes Immune system dysfunction
TMEM45A Osteoporosis 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 T/T Medium
SDHA Frameshift C/G High
MROH2B Inversion G/A High
SLC12A7 Insertion A/T Medium
ZNF518B Substitution 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
FAM110C 21%
SDHA 3%
MROH2B 3%
SLC12A7 24%
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 Cholinergic 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
FAM110C Parkinson's Disease Neurodegeneration
SDHA Cancer Metabolic dysregulation
MROH2B Coronary Artery Disease Metabolic dysregulation
SLC12A7 Cancer Cellular apoptosis
ZNF518B Cancer 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 Substitution G/G Medium
ZFYVE9 Duplication G/T High
GRM6 Frameshift A/T High
GTPBP8 Frameshift G/C High
FOXD4 Deletion 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
ZNF518B 4%
ZFYVE9 24%
GRM6 14%
GTPBP8 19%
FOXD4 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-114608 Adrenergic Receptor Signaling Regulates neurotransmitter release
REACT:R-HSA-76005 Notch 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
ZNF518B Cancer Cellular apoptosis
ZFYVE9 Parkinson's Disease Oxidative stress
GRM6 Coronary Artery Disease Mitochondrial impairment
GTPBP8 Stroke Cellular apoptosis
FOXD4 Parkinson's Disease Metabolic dysregulation

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/G High
PHACTR2 Insertion C/G Medium
ACTN2 Substitution C/C High
PUM3 Deletion G/T Medium
ZDHHC11 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
GRM6 21%
PHACTR2 14%
ACTN2 1%
PUM3 5%
ZDHHC11 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-114608 Cholinergic Pathway Influences inflammatory response
Possible Comobordities

Comorbidities are additional health conditions that often occur alongside a primary condition. For example, someone with ADHD may also have other related issues, such as anxiety or learning difficulties. These conditions are linked because they may share similar causes, such as genetics or brain chemistry, making it more likely for a person to experience both at the same time.

Gene Comorbidities Associated Mechanism
GRM6 Osteoporosis Mitochondrial impairment
PHACTR2 Parkinson's Disease Neurodegeneration
ACTN2 Coronary Artery Disease Inflammation
PUM3 Cancer Cellular apoptosis
ZDHHC11 Stroke 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 Duplication A/C High
ACTN2 Frameshift C/G High
ACAD9 Insertion T/A Medium
ZDHHC11 Deletion A/G Medium
ACAD9-DT Inversion G/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 5%
ACTN2 16%
ACAD9 6%
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 Notch Signaling Pathway Controls cell differentiation
REACT:R-HSA-611105 Dopaminergic Signaling Impacts cellular stress response
REACT:R-HSA-114608 GABAergic Signaling Controls cell differentiation
REACT:R-HSA-76005 Adrenergic Receptor Signaling 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
MROH2B Cancer Mitochondrial impairment
ACTN2 Hypertension Neurodegeneration
ACAD9 Parkinson's Disease Hormonal imbalance
ZDHHC11 Stroke Mitochondrial impairment
ACAD9-DT Asthma Inflammation

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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