Aliases & Classifications for Yao Syndrome

MalaCards integrated aliases for Yao Syndrome:

Name: Yao Syndrome 53 24 71 28
Yaos 53 24 71
Nod2-Associated Autoinflammatory Disease 24
Nod2-Associated Aid 24
Naid 24

Characteristics:

OMIM:

53
Inheritance:
multifactorial

Miscellaneous:
variable features may be present
recurrent fever (high-grade in 50% of patients)
patients do not exhibit uveitis


HPO:

31
yao syndrome:
Inheritance multifactorial inheritance


Classifications:



Summaries for Yao Syndrome

Genetics Home Reference : 24 Yao syndrome (formerly called NOD2-associated autoinflammatory disease) is a disorder involving episodes of fever and abnormal inflammation affecting many parts of the body, particularly the skin, joints, and gastrointestinal system. Inflammation is a normal immune system response to injury and foreign invaders (such as bacteria). In people with Yao syndrome, part of the immune system called the innate immune response is turned on (activated) abnormally, which causes fevers and inflammation-related damage to tissues and organs. Based on this process, Yao syndrome is classified as an autoinflammatory disease. Autoinflammatory diseases are distinct from autoimmune diseases; these two groups of diseases involve abnormalities in different parts of the immune system.

MalaCards based summary : Yao Syndrome, also known as yaos, is related to myositis and blau syndrome, and has symptoms including oral ulcer, xerostomia and nephrolithiasis. An important gene associated with Yao Syndrome is NOD2 (Nucleotide Binding Oligomerization Domain Containing 2). Affiliated tissues include skin and eye.

OMIM : 53 Yao syndrome is an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. The disorder is associated with specific NOD2 variants (Yao and Shen, 2017). (617321)

UniProtKB/Swiss-Prot : 71 Yao syndrome: An autoinflammatory disease characterized by periodic fever, dermatitis, polyarthritis, leg swelling, and gastrointestinal and sicca-like symptoms. YAOS is a complex disease with multifactorial inheritance.

Related Diseases for Yao Syndrome

Diseases related to Yao Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 myositis 10.1
2 blau syndrome 10.0
3 hepatitis 9.9
4 hepatitis b 9.9
5 dyspepsia 9.9
6 piriformis syndrome 9.9

Graphical network of the top 20 diseases related to Yao Syndrome:



Diseases related to Yao Syndrome

Symptoms & Phenotypes for Yao Syndrome

Symptoms via clinical synopsis from OMIM:

53
Cardiovascular Heart:
chest pain
pericarditis
pleuritis

Head And Neck Eyes:
dry eyes

Growth Weight:
weight loss (in some patients)

Skeletal Limbs:
oligopolyarthralgia (primarily of lower extremities)
oligopolyarthritis (primarily of lower extremities)

Skeletal Feet:
oligopolyarthralgia
oligopolyarthritis

Skin Nails Hair Skin Histology:
spongiotic dermatitis
granulomatous changes (in some patients)
perivascular dermatitis (in some patients)

Head And Neck Mouth:
dry mouth

Laboratory Abnormalities:
elevated erythrocyte sedimentation rate (esr)
in some patients)
elevated c-reactive protein (crp)

Abdomen Gastroin testinal:
cramping abdominal pain, intermittent
diarrhea, intermittent and of variable severity

Skeletal Hands:
oligopolyarthralgia
oligopolyarthritis

Skin Nails Hair Skin:
erythematous patches/plaques (primarily on the trunk, also face and limbs)

Muscle Soft Tissue:
edema of lower extremities


Clinical features from OMIM:

617321

Human phenotypes related to Yao Syndrome:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 oral ulcer 31 very rare (1%) HP:0000155
2 xerostomia 31 HP:0000217
3 nephrolithiasis 31 HP:0000787
4 keratoconjunctivitis sicca 31 HP:0001097
5 arthritis 31 very rare (1%) HP:0001369
6 pericarditis 31 HP:0001701
7 ventricular hypertrophy 31 HP:0001714
8 weight loss 31 occasional (7.5%) HP:0001824
9 episodic fever 31 HP:0001954
10 diarrhea 31 frequent (33%) HP:0002014
11 abdominal pain 31 frequent (33%) HP:0002027
12 asthma 31 HP:0002099
13 pleuritis 31 HP:0002102
14 arthralgia 31 HP:0002829
15 elevated erythrocyte sedimentation rate 31 very rare (1%) HP:0003565
16 inflammatory abnormality of the skin 31 HP:0011123
17 chest pain 31 very rare (1%) HP:0100749

Drugs & Therapeutics for Yao Syndrome

Search Clinical Trials , NIH Clinical Center for Yao Syndrome

Genetic Tests for Yao Syndrome

Genetic tests related to Yao Syndrome:

# Genetic test Affiliating Genes
1 Yao Syndrome 28 NOD2

Anatomical Context for Yao Syndrome

MalaCards organs/tissues related to Yao Syndrome:

38
Skin, Eye

Publications for Yao Syndrome

Articles related to Yao Syndrome:

(show all 21)
# Title Authors Year
1
NOD2-associated autoinflammatory disease: a large cohort study. ( 26070941 )
2015
2
Ocular myositis occurring with NOD2-associated autoinflammatory disease. ( 24085756 )
2013
3
Short stature in primary school students belonging to a minority ethnic group of Yao in China. ( 23130980 )
2013
4
Association of MYLIP rs3757354 SNP and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations. ( 23107276 )
2012
5
Genetic variant of V825I in the ATP-binding cassette transporter A1 gene and serum lipid levels in the Guangxi Bai Ku Yao and Han populations. ( 21247457 )
2011
6
Low density lipoprotein receptor gene Ava II polymorphism and serum lipid levels in the Guangxi Bai Ku Yao and Han populations. ( 21345210 )
2011
7
Mutation-sensitive molecular switch method to detect CES1A2 mutation in the Chinese Han and Yao populations. ( 21510813 )
2011
8
Apolipoprotein A5-12238 T>C gene polymorphism and risk factors for metabolic syndrome in the Guo Shan Yao and the Han populations. ( 21707471 )
2011
9
Peroxisome proliferator-activated receptor delta +294T > C polymorphism and serum lipid levels in the Guangxi Bai Ku Yao and Han populations. ( 21176135 )
2010
10
Study on the effect of Jia-Wei-Xiao-Yao-San decoction on patients with functional dyspepsia. ( 19610028 )
2010
11
Association of the LIPG 584C > T polymorphism and serum lipid levels in the Guangxi Bai Ku Yao and Han populations. ( 20923576 )
2010
12
Association of LIPC -250G>A polymorphism and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations. ( 20222961 )
2010
13
Polymorphism of rs1044925 in the acyl-CoA:cholesterol acyltransferase-1 gene and serum lipid levels in the Guangxi Bai Ku Yao and Han populations. ( 21143839 )
2010
14
Association of methylenetetrahydrofolate reductase C677T polymorphism and serum lipid levels in the Guangxi Bai Ku Yao and Han populations. ( 20977771 )
2010
15
[Study on the association of IL-10-592 polymorphism with susceptibility to hepatitis B viral infection in Han, Yi and Yao ethnic groups in Guizhou province]. ( 18956675 )
2008
16
Polymorphism of HLA class II genes in Miao and Yao nationalities of Southwest China. ( 16441488 )
2006
17
Antioxidant and antiplatelet effects of dang-gui-shao-yao-san on human blood cells. ( 16265987 )
2005
18
Dan zhi xiao yao yin combined with auricular-point-pressing for treatment of optic atrophy--a clinical observation of 51 cases. ( 15688690 )
2004
19
Phenotyping and genotyping study of thiopurine S-methyltransferase in healthy Chinese children: a comparison of Han and Yao ethnic groups. ( 15255798 )
2004
20
Piriformis syndrome treated by triple puncture with the bai hu yao tou maneuver. ( 14535185 )
2003
21
[Comparative study of three common G6PD gene mutations in Yao and Han People in Guangxi]. ( 11876979 )
2000

Variations for Yao Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Yao Syndrome:

71
# Symbol AA change Variation ID SNP ID
1 NOD2 p.Arg702Trp VAR_012689 rs2066844
2 NOD2 p.Gly908Arg VAR_012701 rs2066845

ClinVar genetic disease variations for Yao Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NOD2 NM_022162.2(NOD2): c.2798+158C> T single nucleotide variant Pathogenic,risk factor rs5743289 GRCh37 Chromosome 16, 50756774: 50756774

Expression for Yao Syndrome

Search GEO for disease gene expression data for Yao Syndrome.

Pathways for Yao Syndrome

GO Terms for Yao Syndrome

Sources for Yao Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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