YAOS
MCID: YSY001
MIFTS: 33

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 74 29 6
Yaos 57 25 74
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:



External Ids:

OMIM 57 617321
MeSH 44 D056660

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. NOD2 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 basal ganglia calcification, idiopathic, 7, autosomal recessive and irritable bowel syndrome. An important gene associated with Yao Syndrome is NOD2 (Nucleotide Binding Oligomerization Domain Containing 2). The drugs Iron and Hematinics have been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and 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)

UniProtKB/Swiss-Prot : 74 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 top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 basal ganglia calcification, idiopathic, 7, autosomal recessive 11.3
2 irritable bowel syndrome 10.4
3 diarrhea 10.4
4 myositis 10.2
5 inflammatory bowel disease 1 10.2
6 fibromyalgia 10.2
7 chronic pain 10.2
8 blau syndrome 10.2
9 gastric ulcer 10.2
10 kwashiorkor 10.2
11 acquired immunodeficiency syndrome 10.2
12 crohn's disease 10.2
13 gastrointestinal stromal tumor 10.1
14 rheumatic disease 10.1
15 enthesopathy 10.1
16 acute pancreatitis 10.1
17 hair whorl 10.0
18 hypercholesterolemia, familial, 1 10.0
19 hypertriglyceridemia, familial 10.0
20 incisors, shovel-shaped 10.0
21 3-methylglutaconic aciduria, type iii 10.0
22 stroke, ischemic 10.0
23 malaria 10.0
24 spastic paraplegia, intellectual disability, nystagmus, and obesity 10.0
25 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.0
26 pain agnosia 10.0
27 colitis 10.0
28 asbestosis 10.0
29 prostatic hypertrophy 10.0
30 polycystic ovary syndrome 10.0
31 allergic hypersensitivity disease 10.0
32 neutropenia 10.0
33 male infertility 10.0
34 prostatitis 10.0
35 thrombocytopenia 10.0
36 bone cancer 10.0
37 impotence 10.0
38 hyperuricemia 10.0
39 dental caries 10.0
40 dyspepsia 10.0
41 benign mesothelioma 10.0
42 dermatitis 10.0
43 contact dermatitis 10.0
44 glucosephosphate dehydrogenase deficiency 10.0
45 allergic contact dermatitis 10.0
46 lipid metabolism disorder 10.0
47 mood disorder 10.0
48 plague 10.0
49 skin disease 10.0
50 hypokalemia 10.0

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:

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

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
pericarditis
chest pain
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

Drugs & Therapeutics for Yao Syndrome

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved, Experimental Phase 2 15438-31-0, 7439-89-6 23925 27284
2 Hematinics Phase 2
3 Ferric Compounds Phase 2
4 Micronutrients Phase 2
5 Nutrients Phase 2
6 Trace Elements Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Iron and Chronic Obstructive Pulmonary Disease (COPD) Exercise Trial Unknown status NCT03050424 Phase 2 Ferric Carboxymaltose;Sodium Chloride 0.9%

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

MalaCards organs/tissues related to Yao Syndrome:

41
Skin, Eye

Publications for Yao Syndrome

Articles related to Yao Syndrome:

(show all 20)
# Title Authors PMID Year
1
NOD2-associated autoinflammatory disease: a large cohort study. 8 71
26070941 2015
2
Dermatitis as a characteristic phenotype of a new autoinflammatory disease associated with NOD2 mutations. 8 71
23102769 2013
3
A new category of autoinflammatory disease associated with NOD2 gene mutations. 8 71
21914217 2011
4
A Systematic Analysis of Treatment and Outcomes of NOD2-Associated Autoinflammatory Disease. 38 8
27984003 2017
5
NOD2-associated diseases: Bridging innate immunity and autoinflammation. 71
19467619 2010
6
Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families. 71
15024686 2004
7
Failure to replicate the association of the novel NOD2/CARD15 haplotype (S268P-JW1) to Crohn's disease in the Jewish Israeli population. 71
14765395 2004
8
A novel NOD2/CARD15 haplotype conferring risk for Crohn disease in Ashkenazi Jews. 71
12577202 2003
9
CARD15 genetic variation in a Quebec population: prevalence, genotype-phenotype relationship, and haplotype structure. 71
12019468 2002
10
A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. 71
11385577 2001
11
Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. 71
11385576 2001
12
Phenotypes and genotypes of Chinese adult patients with systemic autoinflammatory diseases. 38
31155445 2019
13
Autoinflammatory disease with focus on NOD2-associated disease in the era of genomic medicine. 38
31084224 2019
14
A Chinese case series of Yao syndrome and literature review. 38
30159790 2018
15
Coincidence of NOD2-Associated Autoinflammatory Disease (Yao Syndrome) and HCV Infection With Fatal Consequences: Interaction Between Genes and Environment. 38
30601168 2018
16
Alterations in nucleotide-binding oligomerization domain-2 expression, pathway activation, and cytokine production in Yao syndrome. 38
29471675 2018
17
[Molecular epidemiological survey of hemoglobinopathies in Yongzhou area of Hunan province]. 38
28981928 2017
18
Mutation-sensitive molecular switch method to detect CES1A2 mutation in the Chinese Han and Yao populations. 38
21510813 2011
19
[Analysis of polymorphisms in Y-DNA haplotypes and mtDNA haplogroups in Yao ethnic group from Guizho]. 38
16520309 2006
20
Polymorphism of HLA class II genes in Miao and Yao nationalities of Southwest China. 38
16441488 2006

Variations for Yao Syndrome

ClinVar genetic disease variations for Yao Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NOD2 NM_022162.3(NOD2): c.2798+158C> T single nucleotide variant Pathogenic,risk factor rs5743289 16:50756774-50756774 16:50722863-50722863
2 NOD2 NM_022162.3(NOD2): c.3019dup (p.Leu1007fs) duplication risk factor rs2066847 16:50763781-50763781 16:50729870-50729870
3 NOD2 NM_022162.3(NOD2): c.2722G> C (p.Gly908Arg) single nucleotide variant risk factor rs2066845 16:50756540-50756540 16:50722629-50722629
4 NOD2 NM_022162.3(NOD2): c.2104C> T (p.Arg702Trp) single nucleotide variant risk factor rs2066844 16:50745926-50745926 16:50712015-50712015
5 NOD2 NM_022162.3(NOD2): c.931C> T (p.Arg311Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs104895427 16:50744753-50744753 16:50710842-50710842
6 NOD2 NM_022162.3(NOD2): c.1610C> A (p.Pro537His) single nucleotide variant Uncertain significance 16:50745432-50745432 16:50711521-50711521
7 NOD2 NM_022162.3(NOD2): c.2863G> A (p.Val955Ile) single nucleotide variant Benign/Likely benign rs5743291 16:50757276-50757276 16:50723365-50723365

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

74
# 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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