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Diseases

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
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Symptoms

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What are the signs and symptoms of hyper IgD syndrome?

Hyper IgD syndrome is characterized by periodic high fevers accompanied by lymphadenopathy, abdominal pain, diarrhea, headache, joint pain, hepatomegaly and/or splenomegaly, and skin lesions.[1][2] Most episodes last several days and occur periodically throughout life.[3] The frequency of episodes and their severity vary greatly from case to case.[3][1] The first attack usually takes place during infancy.[2] Patients may have no symptoms between attacks. However, in some patients, the attacks may be so frequent that the symptoms persist.[1]
Last updated: 3/5/2013

The Human Phenotype Ontology provides the following list of signs and symptoms for Hyper-IgD syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abdominal pain 90%
Abnormality of temperature regulation 90%
Arthralgia 90%
Gastrointestinal hemorrhage 90%
Hepatomegaly 90%
Lymphadenopathy 90%
Myalgia 90%
Abnormality of the oral cavity 50%
Arthritis 50%
Diarrhea 50%
Migraine 50%
Urticaria 50%
Vasculitis 50%
Abnormal immunoglobulin level 7.5%
Acrocyanosis 7.5%
Cognitive impairment 7.5%
Incoordination 7.5%
Intestinal obstruction 7.5%
Limitation of joint mobility 7.5%
Peritonitis 7.5%
Seizures 7.5%
Subcutaneous hemorrhage 7.5%
Retinitis pigmentosa 5%
Autosomal recessive inheritance -
Elevated erythrocyte sedimentation rate -
Headache -
Hypermelanotic macule -
Increased IgA level -
Leukocytosis -
Night blindness -
Optic disc pallor -
Skin rash -
Splenomegaly -
Vertigo -
Vomiting -

Last updated: 9/2/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Shinawi M, Scaglia F. Hereditary Periodic Fever Syndromes. Medscape Reference. 2013; http://emedicine.medscape.com/article/952254-overview. Accessed 3/5/2013.
  2. Frenkel J, Simon A. Hyperimmunoglobulinemia D with recurrent fever. Orphanet. 2011; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=343. Accessed 3/5/2013.
  3. 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.


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.