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Gastrointestinal Disorders :

Explore Genetic Insights

Summary

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

Contents

Gastrointestinal Disorders :

The following diseases are associated with Gastrointestinal Disorders ::

Disease Predisposition
Digestive System Diseases Medium
Gastrointestinal Diseases Medium
Intestinal Diseases Medium

Digestive System Diseases

Auditory system diseases can vary widely in their genetic transmission. Some common types of genetic inheritance patterns for these conditions include: 1. **Autosomal Dominant**: A single copy of the altered gene in each cell is sufficient to cause the disorder. 2. **Autosomal Recessive**: Two copies of the altered gene, one from each parent, are necessary to cause the disorder. 3. **X-linked Recessive**: The gene causing the condition is located on the X chromosome. Males are more frequently affected as they have one X and one Y chromosome. 4. **Mitochondrial Inheritance**: The gene causing the disorder is located in mitochondrial DNA, and the condition is typically passed from mother to child. These patterns can be observed in various diseases affecting the auditory system, including certain forms of deafness and auditory neuropathy.

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
GTPBP8 Deletion G/T Medium
ACAD9-DT Duplication G/C Medium
GRM6 Frameshift C/G High
MRPL36 Duplication C/T High
FOXD4 Duplication G/A High
Population Frequency By Gene

Population frequency indicates how common a specific genetic variant is within a group of people, expressed as a percentage. For example, if a gene variant has a frequency of 20%, it means about 20 out of 100 individuals carry that variant. This information helps researchers understand the potential impact of genetic variants on health and traits within different populations.

Gene Frequency
GTPBP8 2%
ACAD9-DT 6%
GRM6 7%
MRPL36 18%
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-74160 Hedgehog Signaling Pathway Involved in cell growth and survival
REACT:R-HSA-76002 Notch 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
GTPBP8 Depression Chronic infection
ACAD9-DT Diabetes Genetic predisposition
GRM6 Coronary Artery Disease Oxidative stress
MRPL36 Hypertension Cellular apoptosis
FOXD4 Osteoporosis Hormonal imbalance

Recommendations for Medium Risk for Auditory System Disease

  • 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 digestive system diseases.

Next Steps

Learn more about Auditory System Disease.

See predicted treatments for digestive system diseases.

Schedule a consultation with a GeneHealth representative to discuss results.

Gastrointestinal Diseases

The type of genetic transmission for gastrointestinal system diseases can vary based on the specific condition. Some gastrointestinal diseases are inherited in an autosomal dominant or autosomal recessive manner, while others might follow X-linked or multifactorial inheritance patterns. For instance, Familial Adenomatous Polyposis (FAP) is typically inherited in an autosomal dominant manner, while some forms of monogenic inflammatory bowel disease (IBD) may follow an autosomal recessive inheritance.

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
LRPPRC Duplication T/C High
FOXD4 Duplication T/T High
GTPBP8 Insertion A/G Medium
SDHA Duplication T/T High
MRPL36 Frameshift 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
LRPPRC 11%
FOXD4 18%
GTPBP8 1%
SDHA 20%
MRPL36 12%
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-74160 Hedgehog Signaling Pathway Controls cell differentiation
REACT:R-HSA-76002 mTOR 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
LRPPRC Asthma Cellular apoptosis
FOXD4 Chronic Obstructive Pulmonary Disease (COPD) Chronic infection
GTPBP8 Hypertension Immune system dysfunction
SDHA Asthma Immune system dysfunction
MRPL36 Diabetes Inflammation

Recommendations for Medium Risk for Gastrointestinal System Disease

  • 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 Gastrointestinal Diseases.

Next Steps

Learn more about Gastrointestinal System Disease.

See predicted treatments for Gastrointestinal Diseases.

Schedule a consultation with a GeneHealth representative to discuss results.

Intestinal Diseases

Intestinal diseases can be broadly classified into various types, including infectious (e.g., bacterial, viral, parasitic), inflammatory (e.g., Crohn's disease, ulcerative colitis), functional (e.g., irritable bowel syndrome), and structural (e.g., bowel obstruction). Type of genetic transmission varies; some intestinal diseases have genetic components. For example, Crohn's disease and ulcerative colitis, both types of inflammatory bowel disease (IBD), can have a hereditary predisposition. The genetic transmission is typically multifactorial, involving multiple genes and environmental factors rather than following a simple Mendelian inheritance pattern.

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
FOXD4 Deletion G/C Medium
GTPBP8 Deletion T/C Medium
ZDHHC11 Frameshift C/C High
ZNF518B Inversion T/A Medium
MRPL36 Substitution 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
FOXD4 14%
GTPBP8 4%
ZDHHC11 2%
ZNF518B 20%
MRPL36 8%
Associated Pathways

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

Pathway Type Effects
REACT:R-HSA-74160 TGF-beta Signaling Pathway Plays a role in synaptic plasticity
REACT:R-HSA-76002 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
FOXD4 Osteoporosis Metabolic dysregulation
GTPBP8 Depression Hormonal imbalance
ZDHHC11 Chronic Obstructive Pulmonary Disease (COPD) Metabolic dysregulation
ZNF518B Diabetes Chronic infection
MRPL36 Diabetes Neurodegeneration

Recommendations for Medium Risk for Intestinal Disease

  • 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 Intestinal Diseases.

Next Steps

Learn more about Intestinal Disease.

See predicted treatments for Intestinal Diseases.

Schedule a consultation with a GeneHealth representative to discuss results.

Appendix

Mutated Genes Found

Diseases Found

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