Kawasaki disease

General Information (adopted from Orphanet):

Synonyms, Signs: KD
Mucocutaneous lymph node syndrome
Infantile polyarteritis
Number of Symptoms 54
OrphanetNr: 2331
OMIM Id: 611775
ICD-10: M30.3
UMLs:
MeSH:
MedDRA: 10023320
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2.8 - PMID: 26906631 [IBIS]
Inheritance: Multifactorial
- PMID: 26632378 [IBIS]
Age of onset: below 5
- PMID: 27990380 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
Non-familial rare disease with dilated cardiomyopathy
 -Rare cardiac disease
Predominantly medium-vessel vasculitis
 -Rare circulatory system disease
 -Rare systemic or rheumatologic disease
Secondary glomerular disease
 -Rare renal disease

Comment:

Kawasaki disease (KD) is a systemic vasculitis that mostly affects children below the age of 5. The vasculitis involves arteries of medium size, especially the coronaries (PMID:27990380). Recent advances in research on KD include searches for genetic susceptibility related to KD and research on immunopathogenesis based on innate and acquired immunity. Prevalence among races is clearly different (PMID:26632378).

Symptom Information: Sort by abundance 

1
 (HPO:0002027) Abdominal pain Frequent [Orphanet] 15574639 IBIS 184 / 7739
2
 (HPO:0002014) Diarrhea Frequent [Orphanet] 15574639 IBIS 225 / 7739
3
 (HPO:0002017) Nausea and vomiting Occasional [Orphanet] 15574639 IBIS 134 / 7739
4
 (HPO:0000509) Conjunctivitis Very frequent [IBIS] 26632378 IBIS 47 / 7739
5
 (HPO:0100533) Inflammatory abnormality of the eye Very frequent [Orphanet] 26632378 IBIS 70 / 7739
6
 (HPO:0000508) Ptosis Occasional [Orphanet] 19823842 IBIS 459 / 7739
7
 (HPO:0100776) Recurrent pharyngitis Very frequent [Orphanet] 15574639 IBIS 18 / 7739
8
 (HPO:0011675) Arrhythmia Occasional [Orphanet] 20639205 IBIS 226 / 7739
9
 (HPO:0002140) Ischemic stroke Frequent [Orphanet] 24095647 IBIS 70 / 7739
10
 (HPO:0001677) Coronary artery disease Occasional [Orphanet] 15574639 IBIS 58 / 7739
11
 (HPO:0012089) Arteritis Very frequent [Orphanet] 25907703 IBIS 40 / 7739
12
 (HPO:0001635) Congestive heart failure Occasional [Orphanet] 15574639 IBIS 232 / 7739
13
 (HPO:0002633) Vasculitis 27990380 IBIS 12 / 7739
14
 (HPO:0003073) Hypoalbuminemia 15574639 IBIS 40 / 7739
15
 (HPO:0011227) Elevated C-reactive protein level Frequent [Orphanet] 15574639 IBIS 55 / 7739
16
 (HPO:0000969) Edema Frequent [Orphanet] 26632378 IBIS 117 / 7739
17
 (HPO:0002902) Hyponatremia 15574639 IBIS 37 / 7739
18
 (HPO:0001974) Leukocytosis Frequent [Orphanet] 15574639 IBIS 33 / 7739
19
 (HPO:0001324) Muscle weakness Frequent [Orphanet] 25680785 IBIS 859 / 7739
20
 (HPO:0012229) CSF pleocytosis 15574639 IBIS 5 / 7739
21
 (HPO:0006824) Cranial nerve paralysis Occasional [Orphanet] 19823842 IBIS 81 / 7739
22
 (HPO:0001287) Meningitis Occasional [Orphanet] 15574639 IBIS 46 / 7739
23
 (HPO:0100851) Abnormal emotion/affect behavior Occasional [Orphanet] 15574639 IBIS 85 / 7739
24
 (HPO:0002315) Headache Occasional [Orphanet] 19823842 IBIS 175 / 7739
25
 (HPO:0005059) Arthralgia/arthritis Frequent [Orphanet] 15574639 IBIS 141 / 7739
26
 (HPO:0100769) Synovitis Frequent [Orphanet] 15574639 IBIS 86 / 7739
27
 (HPO:0001820) Leukonychia Frequent [Orphanet] 6491373 IBIS 18 / 7739
28
 (HPO:0001945) Fever Frequent [Orphanet] Very frequent [IBIS] 15574639 IBIS 218 / 7739
29
 (HPO:0012437) Abnormal gallbladder morphology Occasional [Orphanet] 15574639 IBIS 17 / 7739
30
 (HPO:0001396) Cholestasis Occasional [Orphanet] 26951087 IBIS 136 / 7739
31
 (HPO:0001410) Decreased liver function 15574639 IBIS 59 / 7739
32
 (HPO:0001654) Abnormality of the heart valves Frequent [Orphanet] 15574639 IBIS 49 / 7739
33
 (HPO:0001637) Abnormality of the myocardium Occasional [Orphanet] 15574639 IBIS 76 / 7739
34
 (HPO:0001697) Abnormality of the pericardium Frequent [Orphanet] 15574639 IBIS 52 / 7739
35
 (HPO:0001701) Pericarditis 15574639 IBIS 13 / 7739
36
 (HPO:0011830) Abnormality of oral mucosa Frequent [Orphanet] 26632378 IBIS 47 / 7739
37
 (HPO:0000206) Glossitis Very frequent [Orphanet] Very frequent [IBIS] 15574639 IBIS 9 / 7739
38
 (HPO:0100825) Cheilitis Very frequent [Orphanet] Very frequent [IBIS] 26632378 IBIS 20 / 7739
39
 (HPO:0000407) Sensorineural hearing impairment 15574639 IBIS 524 / 7739
40
 (HPO:0002716) Lymphadenopathy Very frequent [Orphanet] Very frequent [IBIS] 15574639 IBIS 129 / 7739
41
 (HPO:0010783) Erythema Very frequent [Orphanet] Very frequent [IBIS] 15574639 IBIS 138 / 7739
42
 (HPO:0000988) Skin rash Very frequent [Orphanet] Very frequent [IBIS] 26632378 IBIS 98 / 7739
43
 (HPO:0001970) Tubulointerstitial nephritis 23390440 IBIS 27 / 7739
44
 (HPO:0000790) Hematuria 23390440 IBIS 106 / 7739
45
 (HPO:0001919) Acute kidney injury 23390440 IBIS 21 / 7739
46
 (HPO:0100586) Aseptic leukocyturia Occasional [Orphanet] 23390440 IBIS 2 / 7739
47
 (HPO:0000093) Proteinuria Very frequent [Orphanet] 23390440 IBIS 169 / 7739
48
 (HPO:0002616) Aortic root dilatation Occasional [Orphanet] 3903676 IBIS 27 / 7739
49
 (HPO:0002617) Aneurysm 25907703 IBIS 34 / 7739
50
 (HPO:0012085) Pyuria Occasional [IBIS] 30% (n=133) 23390440 IBIS 2 / 7739
51
 (HPO:0003565) Elevated erythrocyte sedimentation rate 15574639 IBIS 31 / 7739
52
 (HPO:0012819) Myocarditis 15574639 IBIS 4 / 7739
53
 (HPO:0040189) Scaling skin 15574639 IBIS 6 / 7739
54
 (IBIS) Orange-brown chromonychia 31044543 IBIS 1 / 7739

Associated genes:

ITPKC; CASP3; BLK; CD40; HLA class 2

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Kawasaki disease is an acute, self-limited vasculitis of infants and children characterized by prolonged fever unresponsive to antibiotics, polymorphous skin rash, erythema of the oral mucosa, lips, and tongue, erythema of the palms and soles, bilateral conjunctival injection, and ...
Clinical Description OMIM Kawasaki (1967) described 50 children with an acute febrile mucocutaneous syndrome with lymphoid involvement and specific desquamation of the fingers and toes. The oldest patient was 9 years of age and more than one-half were less than 2 years ...
Molecular genetics OMIM - Association with CD40LG

After screening the entire CD40LG gene and identifying 22 single-nucleotide polymorphisms (SNPs), Onouchi et al. (2004) performed an association study with 427 Japanese Kawasaki disease patients and 476 healthy Japanese controls. A SNP ...