Other Names for this Disease
- Hyper IgD syndrome
- Hyperimmunoglobulinemia D and periodic fever syndrome
- Periodic fever Dutch type
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 Hyper IgD syndrome is caused by mutations in the gene encoding mevalonate kinase (MVK). It is inherited in an autosomal recessive manner.Hyper IgD syndrome is an inflammatory genetic disorder characterized by periodic episodes of fever associated with additional symptoms including joint pain, skin rash and abdominal pain. Most episodes last several days and occur periodically throughout life. The frequency of episodes and their severity vary greatly from case to case.
Last updated: 3/5/2013
- Hyper IgD Syndrome. National Organization for Rare Disorders (NORD). 2006; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1169/viewAbstract. Accessed 3/5/2013.
- Shinawi M, Scaglia F. Hereditary Periodic Fever Syndromes. Medscape Reference. 2013; http://emedicine.medscape.com/article/952254-overview. Accessed 3/5/2013.
- Hyper-IgD Syndrome. Online Mendelian Inheritance in Man (OMIM). 2009; http://omim.org/entry/260920. Accessed 3/5/2013.
- DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
- The Doctor's Doctor provides information about hyper IgD syndrome. Click on the link to view this information.
- The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Hyper-IgD syndrome. Click on the link to view a sample search on this topic.