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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®

Kawasaki disease

Reviewed September 2015

What is Kawasaki disease?

Kawasaki disease is a sudden and time-limited (acute) illness that affects infants and young children. Affected children develop a prolonged fever lasting several days, a skin rash, and swollen lymph nodes in the neck (cervical lymphadenopathy). They also develop redness in the whites of the eyes (conjunctivitis) and redness (erythema) of the lips, lining of the mouth (oral mucosa), tongue, palms of the hands, and soles of the feet.

Without treatment, 15 to 25 percent of individuals with Kawasaki disease develop bulging and thinning of the walls of the arteries that supply blood to the heart muscle (coronary artery aneurysms) or other damage to the coronary arteries, which can be life-threatening.

How common is Kawasaki disease?

In the United States and other Western countries, Kawasaki disease occurs in approximately 1 in 10,000 children under 5 each year. The condition is 10 to 20 times more common in East Asia, including Japan, Korea, and Taiwan.

What genes are related to Kawasaki disease?

The causes of Kawasaki disease are not well understood. The disorder is generally regarded as being the result of an abnormal immune system activation, but the triggers of this abnormal response are unknown. Because cases of the disorder tend to cluster geographically and by season, researchers have suggested that an infection may be involved. However, no infectious agent (such as a virus or bacteria) has been identified.

A variation in the ITPKC gene has been associated with an increased risk of Kawasaki disease. The ITPKC gene provides instructions for making an enzyme called inositol 1,4,5-trisphosphate 3-kinase C. This enzyme helps limit the activity of immune system cells called T cells. T cells identify foreign substances and defend the body against infection. Reducing the activity of T cells when appropriate prevents the overproduction of immune proteins called cytokines that lead to inflammation and which, in excess, cause tissue damage. Researchers suggest that the ITPKC gene variation may interfere with the body's ability to reduce T cell activity, leading to inflammation that damages blood vessels and results in the signs and symptoms of Kawasaki disease.

It appears likely that other factors, including changes in other genes, also influence the development of this complex disorder.

Related Gene(s)

Changes in this gene are associated with Kawasaki disease.


How do people inherit Kawasaki disease?

A predisposition to Kawasaki disease appears to be passed through generations in families, but the inheritance pattern is unknown. Children of parents who have had Kawasaki disease have twice the risk of developing the disorder compared to the general population. Children with affected siblings have a tenfold higher risk.

Where can I find information about diagnosis or management of Kawasaki disease?

These resources address the diagnosis or management of Kawasaki disease and may include treatment providers.

  • Cincinnati Children's Hospital Medical Center (
  • Genetic Testing Registry: Acute febrile mucocutaneous lymph node syndrome (
  • National Heart, Lung, and Blood Institute: How is Kawasaki Disease Treated? (

You might also find information on the diagnosis or management of Kawasaki disease in Educational resources and Patient support.

General information about the diagnosis ( and management ( of genetic conditions is available in the Handbook. Read more about genetic testing (, particularly the difference between clinical tests and research tests (

To locate a healthcare provider, see How can I find a genetics professional in my area? ( in the Handbook.

Where can I find additional information about Kawasaki disease?

You may find the following resources about Kawasaki disease helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for Kawasaki disease?

  • acute febrile mucocutaneous lymph node syndrome
  • Kawasaki syndrome
  • KD
  • mucocutaneous lymph node syndrome

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines ( and How are genetic conditions and genes named? ( in the Handbook.

What if I still have specific questions about Kawasaki disease?

Ask the Genetic and Rare Diseases Information Center (

What glossary definitions help with understanding Kawasaki disease?

acute ; arteries ; artery ; bacteria ; cell ; coronary ; coronary artery ; enzyme ; erythema ; fever ; gene ; immune system ; infection ; inflammation ; inheritance ; inheritance pattern ; kinase ; lymph ; lymph node ; mucocutaneous ; mucosa ; population ; predisposition ; syndrome ; tissue ; virus

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.


  • Burns JC. Kawasaki Disease update. Indian J Pediatr. 2009 Jan;76(1):71-6. doi: 10.1007/s12098-009-0031-3. Epub 2009 Apr 18. Review. (
  • Harnden A, Takahashi M, Burgner D. Kawasaki disease. BMJ. 2009 May 5;338:b1514. doi: 10.1136/bmj.b1514. Review. (
  • Hata A, Onouchi Y. Susceptibility genes for Kawasaki disease: toward implementation of personalized medicine. J Hum Genet. 2009 Feb;54(2):67-73. doi: 10.1038/jhg.2008.9. Epub 2009 Jan 16. Review. (
  • Kuo HC, Yang KD, Juo SH, Liang CD, Chen WC, Wang YS, Lee CH, Hsi E, Yu HR, Woon PY, Lin IC, Huang CF, Hwang DY, Lee CP, Lin LY, Chang WP, Chang WC. ITPKC single nucleotide polymorphism associated with the Kawasaki disease in a Taiwanese population. PLoS One. 2011 Apr 14;6(4):e17370. doi: 10.1371/journal.pone.0017370. (
  • Lin MT, Wang JK, Yeh JI, Sun LC, Chen PL, Wu JF, Chang CC, Lee WL, Shen CT, Wang NK, Wu CS, Yeh SZ, Chen CA, Chiu SN, Wu MH. Clinical Implication of the C Allele of the ITPKC Gene SNP rs28493229 in Kawasaki Disease: Association With Disease Susceptibility and BCG Scar Reactivation. Pediatr Infect Dis J. 2011 Feb;30(2):148-52. doi: 10.1097/INF.0b013e3181f43a4e. (
  • Onouchi Y, Gunji T, Burns JC, Shimizu C, Newburger JW, Yashiro M, Nakamura Y, Yanagawa H, Wakui K, Fukushima Y, Kishi F, Hamamoto K, Terai M, Sato Y, Ouchi K, Saji T, Nariai A, Kaburagi Y, Yoshikawa T, Suzuki K, Tanaka T, Nagai T, Cho H, Fujino A, Sekine A, Nakamichi R, Tsunoda T, Kawasaki T, Nakamura Y, Hata A. ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms. Nat Genet. 2008 Jan;40(1):35-42. Epub 2007 Dec 16. (
  • Onouchi Y. Molecular genetics of Kawasaki disease. Pediatr Res. 2009 May;65(5 Pt 2):46R-54R. doi: 10.1203/PDR.0b013e31819dba60. Review. (
  • Rowley AH, Shulman ST. Pathogenesis and management of Kawasaki disease. Expert Rev Anti Infect Ther. 2010 Feb;8(2):197-203. doi: 10.1586/eri.09.109. Review. (
  • Yeung RS. Kawasaki disease: update on pathogenesis. Curr Opin Rheumatol. 2010 Sep;22(5):551-60. doi: 10.1097/BOR.0b013e32833cf051. Review. (


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? ( in the Handbook.

Reviewed: September 2015
Published: February 8, 2016