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Genetic and Rare Diseases Information Center (GARD)

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Hyper-IgD syndrome


Other Names for this Disease

  • Hyper IgD syndrome
  • Hyperimmunoglobulinemia D and periodic fever syndrome
  • Periodic fever Dutch type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

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.[1]  Hyper IgD syndrome is caused by mutations in the gene encoding mevalonate kinase (MVK).[2][3] It is inherited in an autosomal recessive manner.[1][3] 
Last updated: 3/5/2013

References

  1. 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.
  2. Shinawi M, Scaglia F. Hereditary Periodic Fever Syndromes. Medscape Reference. 2013; http://emedicine.medscape.com/article/952254-overview. Accessed 3/5/2013.
  3. Hyper-IgD Syndrome. Online Mendelian Inheritance in Man (OMIM). 2009; http://omim.org/entry/260920. Accessed 3/5/2013.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

2 question(s) from the public on Hyper-IgD syndrome have been answered. See questions and answers. You can also submit a new question.

Basic Information

  • 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) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an 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.

Selected Full-Text Journal Articles

  • The Orphanet Journal of Rare Diseases has published an article with information on this condition. This journal is affiliated with the Orphanet reference portal for information on rare diseases and orphan drugs.
Other Names for this Disease
  • Hyper IgD syndrome
  • Hyperimmunoglobulinemia D and periodic fever syndrome
  • Periodic fever Dutch type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.