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Ophthalmological Diseases :

Explore Genetic Insights

Summary

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

Contents

Ophthalmological Diseases :

The following diseases are associated with Ophthalmological Diseases ::

Disease Predisposition
Female Urogenital Diseases And Pregnancy Complications Medium

Female Urogenital Diseases And Pregnancy Complications

ALG1-congenital disorder of glycosylation is an autosomal recessive 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
TMEM45A Substitution A/T High
ACAD9 Insertion C/T Medium
SDHA Deletion A/A High
GRM6 Inversion G/A Medium
PHACTR2 Insertion G/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
TMEM45A 14%
ACAD9 22%
SDHA 9%
GRM6 19%
PHACTR2 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-74160 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
TMEM45A Hypertension Mitochondrial impairment
ACAD9 Osteoporosis Immune system dysfunction
SDHA Osteoporosis Chronic infection
GRM6 Osteoporosis Oxidative stress
PHACTR2 Diabetes Inflammation

Recommendations for Medium Risk for Alg1-congenital Disorder Of Glycosylation

  • 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 female urogenital diseases and pregnancy complications.

Next Steps

Learn more about Alg1-congenital Disorder Of Glycosylation.

See predicted treatments for female urogenital diseases and pregnancy complications.

Schedule a consultation with a GeneHealth representative to discuss results.

Appendix

Mutated Genes Found

Diseases Found

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