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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 Duplication G/T Medium
LRPPRC Insertion C/C High
ZFYVE9 Frameshift A/G Medium
SDHA Frameshift G/A High
ZDHHC11 Duplication 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
GTPBP8 14%
LRPPRC 18%
ZFYVE9 17%
SDHA 10%
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-6805567 Glutamatergic Transmission Involved in cell growth and survival
REACT:R-HSA-74160 Wnt Signaling Pathway Regulates neurotransmitter release
REACT:R-HSA-1430728 Notch Signaling Pathway Influences inflammatory response
REACT:R-HSA-76002 PI3K-Akt Signaling Pathway Influences inflammatory response
REACT:R-HSA-611105 TGF-beta Signaling Pathway Modulates metabolism and energy use
REACT:R-HSA-114608 Hedgehog Signaling Pathway Plays a role in synaptic plasticity
REACT:R-HSA-76005 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 Stroke Neurodegeneration
LRPPRC Hypertension Oxidative stress
ZFYVE9 Chronic Obstructive Pulmonary Disease (COPD) Genetic predisposition
SDHA Diabetes Genetic predisposition
ZDHHC11 Asthma Oxidative stress

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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