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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 T/A Medium
ACAD9 Frameshift A/T Medium
SLC12A7 Inversion A/A High
GSTM4 Deletion T/T 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 23%
ACAD9 20%
SLC12A7 10%
GSTM4 10%
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 Hedgehog Signaling Pathway Influences inflammatory response
REACT:R-HSA-611105 MAPK 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
MROH2B Asthma Immune system dysfunction
ACAD9 Cancer Chronic infection
SLC12A7 Parkinson's Disease Cellular apoptosis
GSTM4 Cancer Inflammation
ACTN2 Hypertension Mitochondrial impairment

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 Duplication G/C High
FOXD4 Substitution G/C High
GSTM4 Inversion A/A High
SDHA Substitution A/A High
TMEM45A Substitution 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
ZNF518B 22%
FOXD4 11%
GSTM4 7%
SDHA 23%
TMEM45A 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 GABAergic 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
ZNF518B Coronary Artery Disease Neurodegeneration
FOXD4 Hypertension Metabolic dysregulation
GSTM4 Osteoporosis Chronic infection
SDHA Depression Immune system dysfunction
TMEM45A Hypertension Mitochondrial impairment

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 A/G Medium
SDHA Duplication A/T High
MROH2B Duplication T/A Medium
SLC12A7 Inversion A/G High
ZNF518B Frameshift 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
FAM110C 7%
SDHA 24%
MROH2B 24%
SLC12A7 3%
ZNF518B 19%
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 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 Chronic Obstructive Pulmonary Disease (COPD) Mitochondrial impairment
SDHA Stroke Oxidative stress
MROH2B Stroke Mitochondrial impairment
SLC12A7 Coronary Artery Disease Genetic predisposition
ZNF518B Coronary Artery Disease Neurodegeneration

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 T/G Medium
ZFYVE9 Deletion C/T High
GRM6 Substitution T/G Medium
GTPBP8 Frameshift G/A Medium
FOXD4 Insertion 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
ZNF518B 4%
ZFYVE9 17%
GRM6 18%
GTPBP8 15%
FOXD4 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-114608 Glutamatergic Transmission Controls cell differentiation
REACT:R-HSA-76005 Notch Signaling Pathway Regulates apoptosis and cell death
Possible Comobordities

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

Gene Comorbidities Associated Mechanism
ZNF518B Parkinson's Disease Inflammation
ZFYVE9 Depression Hormonal imbalance
GRM6 Stroke Hormonal imbalance
GTPBP8 Chronic Obstructive Pulmonary Disease (COPD) Metabolic dysregulation
FOXD4 Asthma Hormonal imbalance

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 Deletion A/A High
PHACTR2 Substitution G/C Medium
ACTN2 Inversion A/A High
PUM3 Frameshift G/G High
ZDHHC11 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
GRM6 13%
PHACTR2 3%
ACTN2 10%
PUM3 17%
ZDHHC11 2%
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 PI3K-Akt 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
GRM6 Asthma Cellular apoptosis
PHACTR2 Depression Hormonal imbalance
ACTN2 Chronic Obstructive Pulmonary Disease (COPD) Mitochondrial impairment
PUM3 Asthma Hormonal imbalance
ZDHHC11 Asthma Mitochondrial impairment

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 G/A Medium
ACTN2 Duplication A/T High
ACAD9 Frameshift A/C High
ZDHHC11 Frameshift C/T Medium
ACAD9-DT Inversion C/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 16%
ACTN2 8%
ACAD9 17%
ZDHHC11 20%
ACAD9-DT 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 NF-kappa B Signaling Pathway Regulates neurotransmitter release
REACT:R-HSA-611105 Serotonergic Synapse Regulates neurotransmitter release
REACT:R-HSA-114608 PI3K-Akt Signaling Pathway Plays a role in synaptic plasticity
REACT:R-HSA-76005 NF-kappa B Signaling Pathway Affects immune 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 Diabetes Chronic infection
ACTN2 Cancer Hormonal imbalance
ACAD9 Depression Genetic predisposition
ZDHHC11 Parkinson's Disease Cellular apoptosis
ACAD9-DT Asthma Metabolic dysregulation

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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