Yao Syndrome (YAOS)

Categories: Gastrointestinal diseases, Genetic diseases, Skin diseases

Aliases & Classifications for Yao Syndrome

MalaCards integrated aliases for Yao Syndrome:

Name: Yao Syndrome 57 43 73 29 6
Yaos 57 43 73
Nod2-Associated Autoinflammatory Disease 43
Nod2-Associated Aid 43
Syndrome, Yao 39
Naid 43



57 (Updated 05-Mar-2021)

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


yao syndrome:
Inheritance multifactorial inheritance


Summaries for Yao Syndrome

MedlinePlus Genetics : 43 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.The episodes of fever and inflammation associated with Yao syndrome can last for several days and occur weeks to months apart. During these episodes, most affected individuals develop reddened, inflamed areas on the skin called erythematous patches or plaques. This reddening occurs most commonly on the face, chest, and back but can also affect the arms and legs. Episodes of joint pain and inflammation similar to arthritis are common, particularly in the legs, as is swelling of the ankles and feet. Inflammation also affects the gastrointestinal system, causing attacks of abdominal pain, bloating, and cramping with diarrhea in more than half of affected individuals. Dry eyes and dry mouth (described as "sicca-like" symptoms, which refers to dryness) are reported in about half of people with this disease. Other potential signs and symptoms of Yao syndrome include mouth sores, chest pain, and enlargement of various glands.Yao syndrome is usually diagnosed in adulthood. It is a long-lasting (chronic) disease, and episodes can recur for many years.

MalaCards based summary : Yao Syndrome, also known as yaos, is related to myositis and inflammatory bowel disease 1. An important gene associated with Yao Syndrome is NOD2 (Nucleotide Binding Oligomerization Domain Containing 2). The drugs Sertraline and Acetaminophen have been mentioned in the context of this disorder. Related phenotypes are arthritis and abdominal pain

OMIM® : 57 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) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 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.

Wikipedia : 74 Yao syndrome (YAOS) (formerly called NOD2-associated autoinflammatory disease) is an autoinflammatory... more...

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 inflammatory bowel disease 1 10.1
3 skin disease 10.1
4 fibromyalgia 10.1
5 chronic pain 10.1
6 blau syndrome 9.9
7 gastric ulcer 9.9
8 crohn's disease 9.9
9 conjunctivitis 9.9
10 cytokine deficiency 9.9

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

Diseases related to Yao Syndrome

Symptoms & Phenotypes for Yao Syndrome

Human phenotypes related to Yao Syndrome:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 arthritis 31 very rare (1%) HP:0001369
2 abdominal pain 31 very rare (1%) HP:0002027
3 myalgia 31 very rare (1%) HP:0003326
4 chest pain 31 very rare (1%) HP:0100749
5 skin rash 31 very rare (1%) HP:0000988
6 weight loss 31 very rare (1%) HP:0001824
7 diarrhea 31 very rare (1%) HP:0002014
8 elevated erythrocyte sedimentation rate 31 very rare (1%) HP:0003565
9 oral ulcer 31 very rare (1%) HP:0000155
10 recurrent fever 31 very rare (1%) HP:0001954
11 arthralgia 31 HP:0002829
12 nephrolithiasis 31 HP:0000787
13 asthma 31 HP:0002099
14 pericarditis 31 HP:0001701
15 keratoconjunctivitis sicca 31 HP:0001097
16 pleuritis 31 HP:0002102
17 xerostomia 31 HP:0000217
18 ventricular hypertrophy 31 HP:0001714

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Cardiovascular Heart:
chest pain

Head And Neck Eyes:
dry eyes

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

Skeletal Hands:

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

Muscle Soft Tissue:
edema of lower extremities

Head And Neck Mouth:
dry mouth

Growth Weight:
weight loss (in some patients)

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

Skeletal Feet:

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

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

Clinical features from OMIM®:

617321 (Updated 05-Mar-2021)

Drugs & Therapeutics for Yao Syndrome

Drugs for Yao Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Sertraline Approved 79617-96-2 68617
Acetaminophen Approved 103-90-2 1983
Benzydamine Approved 642-72-8, 100-46-9 7504
4 Neurotransmitter Agents
5 Antidepressive Agents
6 Psychotropic Drugs
7 Serotonin Uptake Inhibitors
8 Antibiotics, Antitubercular
9 Anti-Bacterial Agents
10 Antipyretics
Serotonin Investigational, Nutraceutical 50-67-9 5202

Interventional clinical trials:

# Name Status NCT ID Phase Drugs
1 Traditional Chinese Medicine Tong-Xie-Yao-Fang Granules for Diarrhea-predominant Irritable Bowel Syndrome: a Randomized Placebo-controlled Trial and a Mechanistic Study Completed NCT02538692 Phase 2, Phase 3 Tong-Xie-Yao-Fang;Placebo
2 A Double Blind, Randomized, Placebo Controlled Clinical Trial to Evaluate the Safety and Efficacy of Traditional Chinese Medicine in Sjögren's Syndrome. Completed NCT04111341 Phase 2 TCM (Gan-Lu-Yin)GLY;PLACEBO
3 Randomized Double Blinding Controlled Study on" Jia Wei Xiao Yao Jiaonang" Treating Mild to Moderate Major Depressive Disorder Unknown status NCT01467804 Sertraline plus placebo of JWXYJN;JWXYJN plus placebo of Sertraline
4 The Efficacy of Traditional Chinese Herbal Medicine for Dementia: a Pilot Study Unknown status NCT03838952 Herbal medicine
5 A Multicenter, Randomized, Open, Comparative Study of Efficacy, Safety and Tolerability of Imupret Application in the Concept of Delayed Prescription of Antibiotics in Children, Aged 6-12 With Acute Tonsillitis Completed NCT04537819 Imupret in addition to local NAID;Local NAID (Benzydamin)
6 Diaphragm's Manual Therapy Reduce Pain in Patients With Chronic Neck Pain: a Randomised Controlled Trial Completed NCT03223285

Search NIH Clinical Center for Yao Syndrome

Genetic Tests for Yao Syndrome

Genetic tests related to Yao Syndrome:

# Genetic test Affiliating Genes
1 Yao Syndrome 29 NOD2

Anatomical Context for Yao Syndrome

Publications for Yao Syndrome

Articles related to Yao Syndrome:

(show all 23)
# Title Authors PMID Year
NOD2-associated autoinflammatory disease: a large cohort study. 57 6
26070941 2015
Dermatitis as a characteristic phenotype of a new autoinflammatory disease associated with NOD2 mutations. 6 57
23102769 2013
A new category of autoinflammatory disease associated with NOD2 gene mutations. 57 6
21914217 2011
A Systematic Analysis of Treatment and Outcomes of NOD2-Associated Autoinflammatory Disease. 61 57
27984003 2017
NOD2-associated diseases: Bridging innate immunity and autoinflammation. 6
19467619 2010
Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families. 6
15024686 2004
Failure to replicate the association of the novel NOD2/CARD15 haplotype (S268P-JW1) to Crohn's disease in the Jewish Israeli population. 6
14765395 2004
A novel NOD2/CARD15 haplotype conferring risk for Crohn disease in Ashkenazi Jews. 6
12577202 2003
CARD15 genetic variation in a Quebec population: prevalence, genotype-phenotype relationship, and haplotype structure. 6
12019468 2002
A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. 6
11385577 2001
Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. 6
11385576 2001
Neurological manifestations of autoinflammatory diseases in Chinese adult patients. 61
32115236 2020
Expansion of Phenotypic and Genotypic Spectrum in Yao Syndrome: A Case Series. 61
33394828 2020
Phenotypes and genotypes of Chinese adult patients with systemic autoinflammatory diseases. 61
31155445 2019
Research letter: Effectiveness of canakinumab for the treatment of Yao syndrome patients. 61
31541750 2019
Autoinflammatory disease with focus on NOD2-associated disease in the era of genomic medicine. 61
31084224 2019
Coincidence of NOD2-Associated Autoinflammatory Disease (Yao Syndrome) and HCV Infection With Fatal Consequences: Interaction Between Genes and Environment. 61
30601168 2018
A Chinese case series of Yao syndrome and literature review. 61
30159790 2018
Alterations in nucleotide-binding oligomerization domain-2 expression, pathway activation, and cytokine production in Yao syndrome. 61
29471675 2018
[Molecular epidemiological survey of hemoglobinopathies in Yongzhou area of Hunan province]. 61
28981928 2017
Mutation-sensitive molecular switch method to detect CES1A2 mutation in the Chinese Han and Yao populations. 61
21510813 2011
[Analysis of polymorphisms in Y-DNA haplotypes and mtDNA haplogroups in Yao ethnic group from Guizho]. 61
16520309 2006
Polymorphism of HLA class II genes in Miao and Yao nationalities of Southwest China. 61
16441488 2006

Variations for Yao Syndrome

ClinVar genetic disease variations for Yao Syndrome:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NOD2 NM_001370466.1(NOD2):c.2717+158C>T SNV risk factor 4697 rs5743289 16:50756774-50756774 16:50722863-50722863
2 NOD2 NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg) SNV risk factor 4692 rs2066845 16:50756540-50756540 16:50722629-50722629
3 NOD2 NM_001370466.1(NOD2):c.2938dup (p.Leu980fs) Duplication risk factor 4691 rs2066847 16:50763778-50763779 16:50729867-50729868
4 NOD2 NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp) SNV risk factor 4693 rs2066844 16:50745926-50745926 16:50712015-50712015
5 NOD2 NM_001370466.1(NOD2):c.1529C>A (p.Pro510His) SNV Uncertain significance 625983 rs1567392735 16:50745432-50745432 16:50711521-50711521
6 NOD2 NM_001370466.1(NOD2):c.850C>T (p.Arg284Trp) SNV Uncertain significance 97885 rs104895427 16:50744753-50744753 16:50710842-50710842
7 NOD2 NM_001370466.1(NOD2):c.1753G>A (p.Ala585Thr) SNV Uncertain significance 4700 rs104895438 16:50745656-50745656 16:50711745-50711745
8 NOD2 NM_001370466.1(NOD2):c.1970G>A (p.Arg657Gln) SNV Uncertain significance 779017 rs114664276 16:50745873-50745873 16:50711962-50711962
9 NOD2 NM_001370466.1(NOD2):c.2116G>A (p.Val706Met) SNV Uncertain significance 992540 16:50746019-50746019 16:50712108-50712108
10 NOD2 NM_001370466.1(NOD2):c.749G>A (p.Gly250Asp) SNV Uncertain significance 931759 16:50744652-50744652 16:50710741-50710741
11 NOD2 NM_001370466.1(NOD2):c.2782G>A (p.Val928Ile) SNV Likely benign 97869 rs5743291 16:50757276-50757276 16:50723365-50723365

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

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

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

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
70 Tocris
72 UMLS via Orphanet
Loading form....