Disorders

 Background and Organization

More than 120 genetic disorders have been identified among plain people throughout the United States and Canada.  Some are unique to the Amish, others to Swiss-German Mennonites, to Hutterites, and to Dutch-German Mennonites, etc.  Still others are found throughout Anabaptist communities.  Of course, many are also found among other populations and throughout the world as well.

Public information regarding genetic diseases is often widely scattered and either too general or too specialized to be useful or easily accessible.  On the other hand, the professional literature for health care workers can be so voluminous and technical that it becomes difficult to find clinically relevant information or it is so specialized that it is of limited value for busy practitioners in a clinical setting.

This website is an attempt to address both those problems.  It will not substitute for a comprehensive understanding or literature review of a specific disease, but rather to serve as a diagnostic aid and a gateway to more detailed information.  Nearly all heritable disorders in plain people are individually rare, and yet should be near the top of the list of the list whenever familial conditions are seen in these populations.  With the database available on the Internet, it is possible for everyone at anytime to search among these specific genetic conditions, with a high probability of finding the most likely diagnosis.  Further, links to general information, disorder networks, support groups, and other relevant websites and databases are listed for each description whenever available, giving families and communities access to additional non-technical information.  Since it can also be printed, families in all communities can benefit even if they do not have Internet access.

To find information on a specific disease, simply click on the disorder for a summary (note that many conditions have multiple titles).  These summaries contain both a general description for families and patients, as well as a section with more detailed medical information for healthcare providers.  For many conditions, diagrams of the metabolic pathways are provided (see Associated graphics for a list) illustrating the actions of normal genes and the biochemical (and clinical) consequences of the relevant mutation.

One of the powerful features of this website is the search function.  Starting with the clinical features of a patient, the signs and symptoms can be placed in the search box to obtain a list of disorders that are likely to fit the clinical picture.  Study of these might then lead to a diagnosis.

References (with PubMed links) are included at the end of each disorder description for further literature research.  There is also an OMIM #000000 link for each disorder that takes you directly to the appropriate entry in Online Mendelian Inheritance in Man with extensive clinical, genetic, and other information with additional references to the medical literature.

Many of the disorders described have a limited distribution among the several populations.  To narrow the search to a specific population, also enter the appropriate population code (see explanations):

OOA: Old Order Amish (general Amish population) 

APA: Old Order Amish (Eastern Pennsylvania population) 

MEN: General Mennonite population of Swiss-German origin 

DGM: Mennonites of Dutch-German origin, primarily in Western Canada (distinct population) 

HUT: Hutterites

The advanced search option can be used to look for specific authors, titles and symptoms. This database evolves as new information is accumulated through the work of numerous clinicians and multiple laboratories.  We welcome the contribution of additional data and suggestions for improvement.

Go to list of disorders

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