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Dermatological Diseases :

Explore Genetic Insights

Summary

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

Contents

Dermatological Diseases :

The following diseases are associated with Dermatological Diseases ::

Disease Predisposition
Skin And Connective Tissue Diseases Medium

Skin And Connective Tissue Diseases

Mixed connective tissue disease is an autoimmune disorder. It is not typically considered to have a direct genetic transmission; rather, it is believed to result from a combination of genetic predisposition and environmental 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
GTPBP8 Frameshift A/C High
LRPPRC Inversion A/G Medium
ZFYVE9 Inversion G/G Medium
SDHA Deletion A/T High
ZDHHC11 Inversion T/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
GTPBP8 12%
LRPPRC 10%
ZFYVE9 15%
SDHA 21%
ZDHHC11 18%
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-6805567 Adrenergic Receptor Signaling Regulates apoptosis and cell death
REACT:R-HSA-74160 Notch Signaling Pathway Influences inflammatory response
REACT:R-HSA-1430728 Hedgehog Signaling Pathway Controls cell differentiation
REACT:R-HSA-76002 Dopaminergic Signaling Impacts cellular stress response
REACT:R-HSA-611105 Adrenergic Receptor Signaling Critical for embryonic development
REACT:R-HSA-114608 Notch Signaling Pathway Involved in cell growth and survival
REACT:R-HSA-76005 Serotonergic Synapse 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
GTPBP8 Osteoporosis Mitochondrial impairment
LRPPRC Asthma Genetic predisposition
ZFYVE9 Osteoporosis Cellular apoptosis
SDHA Coronary Artery Disease Oxidative stress
ZDHHC11 Chronic Obstructive Pulmonary Disease (COPD) Cellular apoptosis

Recommendations for Medium Risk for Mixed Connective Tissue 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 skin and connective tissue diseases.

Next Steps

Learn more about Mixed Connective Tissue Disease.

See predicted treatments for skin and connective tissue diseases.

Schedule a consultation with a GeneHealth representative to discuss results.

Appendix

Mutated Genes Found

Diseases Found

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