YAOS
MCID: YSY001
MIFTS: 28

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 25 75 29 6
Yaos 57 25 75
Nod2-Associated Autoinflammatory Disease 25
Nod2-Associated Aid 25
Syndrome, Yao 40
Naid 25

Characteristics:

OMIM:

57
Inheritance:
multifactorial

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


HPO:

32
yao syndrome:
Inheritance multifactorial inheritance


Classifications:



Summaries for Yao Syndrome

Genetics Home Reference : 25 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 irritable bowel syndrome. An important gene associated with Yao Syndrome is NOD2 (Nucleotide Binding Oligomerization Domain Containing 2). Affiliated tissues include skin and eye, and related phenotypes are arthritis and arthralgia

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)

UniProtKB/Swiss-Prot : 75 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:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 myositis 10.2
2 irritable bowel syndrome 10.2
3 diarrhea 10.1
4 blau syndrome 10.1
5 3-methylglutaconic aciduria, type iii 10.0
6 retinitis pigmentosa 10.0
7 hepatitis 10.0
8 hepatitis b 10.0
9 spinal stenosis 10.0
10 dyspepsia 10.0
11 piriformis syndrome 10.0

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:

57
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 Gastrointestinal:
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:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 arthritis 32 very rare (1%) HP:0001369
2 arthralgia 32 HP:0002829
3 abdominal pain 32 very rare (1%) HP:0002027
4 weight loss 32 very rare (1%) HP:0001824
5 myalgia 32 very rare (1%) HP:0003326
6 keratoconjunctivitis sicca 32 HP:0001097
7 xerostomia 32 HP:0000217
8 asthma 32 HP:0002099
9 chest pain 32 very rare (1%) HP:0100749
10 nephrolithiasis 32 HP:0000787
11 diarrhea 32 very rare (1%) HP:0002014
12 pericarditis 32 HP:0001701
13 skin rash 32 very rare (1%) HP:0000988
14 oral ulcer 32 very rare (1%) HP:0000155
15 pleuritis 32 HP:0002102
16 elevated erythrocyte sedimentation rate 32 very rare (1%) HP:0003565
17 episodic fever 32 very rare (1%) HP:0001954
18 ventricular hypertrophy 32 HP:0001714

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 29 NOD2

Anatomical Context for Yao Syndrome

MalaCards organs/tissues related to Yao Syndrome:

41
Skin, Eye

Publications for Yao Syndrome

Articles related to Yao Syndrome:

# Title Authors Year
1
Alterations in nucleotide-binding oligomerization domain-2 expression, pathway activation, and cytokine production in Yao syndrome. ( 29471675 )
2018
2
A Chinese case series of Yao syndrome and literature review. ( 30159790 )
2018

Variations for Yao Syndrome

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

75
# 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.3019dupC (p.Leu1007Profs) duplication risk factor rs2066847 GRCh38 Chromosome 16, 50729870: 50729870
2 NOD2 NM_022162.2(NOD2): c.3019dupC (p.Leu1007Profs) duplication risk factor rs2066847 GRCh37 Chromosome 16, 50763781: 50763781
3 NOD2 NM_022162.2(NOD2): c.2722G> C (p.Gly908Arg) single nucleotide variant risk factor rs2066845 GRCh37 Chromosome 16, 50756540: 50756540
4 NOD2 NM_022162.2(NOD2): c.2722G> C (p.Gly908Arg) single nucleotide variant risk factor rs2066845 GRCh38 Chromosome 16, 50722629: 50722629
5 NOD2 NM_022162.2(NOD2): c.2104C> T (p.Arg702Trp) single nucleotide variant risk factor rs2066844 GRCh37 Chromosome 16, 50745926: 50745926
6 NOD2 NM_022162.2(NOD2): c.2104C> T (p.Arg702Trp) single nucleotide variant risk factor rs2066844 GRCh38 Chromosome 16, 50712015: 50712015
7 NOD2 NM_022162.2(NOD2): c.2798+158C> T single nucleotide variant Pathogenic,risk factor rs5743289 GRCh37 Chromosome 16, 50756774: 50756774
8 NOD2 NM_022162.2(NOD2): c.2798+158C> T single nucleotide variant Pathogenic,risk factor rs5743289 GRCh38 Chromosome 16, 50722863: 50722863

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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