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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Published on: August 15, 2019

Contribution of Mendelian disorders to common chronic disease: opportunities for recognition, intervention, and

Maren T Scheuner1, Paula W Yoon, Muin J Khoury

  • 1Department of Health Services, UCLA School of Public Health, Los Angeles, CA 90095-1772,USA. scheuner@ucla.edu

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|February 3, 2004
PubMed

Insights

Recognizing Mendelian disorders, genetic conditions with clear inheritance patterns, is key for individuals with family histories of chronic diseases. Identifying these disorders aids in diagnosis and risk assessment.

Area of Science:

  • Genetics
  • Medical Genetics
  • Genomic Medicine

Background:

  • Mendelian disorders can present as strong familial risks for common chronic diseases.
  • Improved recognition of these disorders can enhance healthcare for at-risk individuals.
  • The Online Mendelian Inheritance in Man (OMIM) database is a key resource for identifying genetic conditions.

Purpose of the Study:

  • To identify Mendelian disorders associated with 17 common chronic diseases.
  • To describe patterns of inheritance and disease combinations within these disorders.
  • To assess the availability of genetic testing and management guidelines.

Main Methods:

  • Reviewed the OMIM database for Mendelian disorders linked to 17 common chronic diseases.
  • Selected disorders reported in multiple families with adult-onset disease.
  • Utilized GeneTests/Reviews and other sources to determine genetic testing and guideline availability.

Main Results:

  • Identified 188 Mendelian disorders from 2,592 OMIM entries.
  • Most selected disorders (67.7%) were autosomal dominant.
  • Genetic testing is available for 55% and management guidelines for 33.9% of identified disorders.

Conclusions:

  • Significant clinical heterogeneity exists in Mendelian disorders presenting as familial chronic diseases.
  • Recognizing inheritance patterns and disease combinations aids diagnosis.
  • While genetic testing is often available, evidence-based management guidelines are needed for many conditions.

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