Aliases & Classifications for Yao Syndrome

MalaCards integrated aliases for Yao Syndrome:

Name: Yao Syndrome 54 71 29
Yaos 71

Characteristics:

OMIM:

54
Miscellaneous:
variable features may be present
recurrent fever (high-grade in 50% of patients)
patients do not exhibit uveitis

Inheritance:
multifactorial


HPO:

32
yao syndrome:
Inheritance multifactorial inheritance


Classifications:



Summaries for Yao Syndrome

OMIM : 54
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)

MalaCards based summary : Yao Syndrome, also known as yaos, is related to hepatitis and hepatitis b, and has symptoms including diarrhea, nephrolithiasis and ventricular hypertrophy. An important gene associated with Yao Syndrome is NOD2 (Nucleotide Binding Oligomerization Domain Containing 2). The drugs Dexlansoprazole and Lansoprazole have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and skin.

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:

id Related Disease Score Top Affiliating Genes
1 hepatitis 9.8
2 hepatitis b 9.8
3 dyspepsia 9.8
4 piriformis syndrome 9.8

Symptoms & Phenotypes for Yao Syndrome

Symptoms via clinical synopsis from OMIM:

54

Cardiovascular- Heart:
pericarditis
pleuritis
chest pain

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- Hands:
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- Feet:
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 14)
id Description HPO Frequency HPO Source Accession
1 diarrhea 32 frequent (33%) HP:0002014
2 nephrolithiasis 32 HP:0000787
3 ventricular hypertrophy 32 HP:0001714
4 pericarditis 32 HP:0001701
5 pleuritis 32 HP:0002102
6 arthritis 32 very rare (1%) HP:0001369
7 abdominal pain 32 frequent (33%) HP:0002027
8 asthma 32 HP:0002099
9 chest pain 32 very rare (1%) HP:0100749
10 arthralgia 32 HP:0002829
11 episodic fever 32 HP:0001954
12 elevated erythrocyte sedimentation rate 32 very rare (1%) HP:0003565
13 oral ulcer 32 very rare (1%) HP:0000155
14 inflammatory abnormality of the skin 32 HP:0011123

Drugs & Therapeutics for Yao Syndrome

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

(show top 50) (show all 81)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexlansoprazole Approved Phase 4 138530-94-6, 103577-45-3 9578005
2
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
3
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
4
Tacrolimus Approved, Investigational Phase 4,Phase 2 104987-11-3 445643 439492
5 Mosapride Investigational Phase 4 112885-41-3
6 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
7
Serotonin Phase 4,Phase 3 50-67-9 5202
8 Serotonin Agents Phase 4,Phase 3
9 Calcium, Dietary Phase 4
10 Antacids Phase 4
11 Anti-Ulcer Agents Phase 4
12 Gastrointestinal Agents Phase 4,Phase 3,Phase 2
13
Proton pump inhibitors Phase 4
14 Anticholesteremic Agents Phase 4
15 Antimetabolites Phase 4,Phase 2
16 Bone Density Conservation Agents Phase 4
17 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
18 Hypolipidemic Agents Phase 4
19 Lipid Regulating Agents Phase 4
20 Rosuvastatin Calcium Phase 4 147098-20-2
21 Anti-Infective Agents Phase 4
22 Antiviral Agents Phase 4
23 Calcineurin Inhibitors Phase 4,Phase 2
24 Immunosuppressive Agents Phase 4,Phase 2
25
Alogliptin Approved Phase 3 850649-61-5 11450633
26
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
27
Olanzapine Approved, Investigational Phase 3 132539-06-1 4585
28 Autonomic Agents Phase 3
29 Neurotransmitter Uptake Inhibitors Phase 3
30 Peripheral Nervous System Agents Phase 3,Phase 2
31 Psychotropic Drugs Phase 3
32 Serotonin Uptake Inhibitors Phase 3
33 Dipeptidyl-Peptidase IV Inhibitors Phase 3
34 HIV Protease Inhibitors Phase 3,Phase 2
35 Hormone Antagonists Phase 3
36 Hormones Phase 3
37 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
38 Hypoglycemic Agents Phase 3
39 Incretins Phase 3
40
protease inhibitors Phase 3,Phase 2
41 Antiemetics Phase 3
42 Antipsychotic Agents Phase 3
43 Central Nervous System Depressants Phase 3
44 Dopamine Agents Phase 3
45 Dopamine Antagonists Phase 3
46 Dopamine D2 Receptor Antagonists Phase 3
47 Paliperidone Palmitate Phase 3
48 Serotonin 5-HT2 Receptor Antagonists Phase 3
49 Serotonin Antagonists Phase 3
50 Tranquilizing Agents Phase 3

Interventional clinical trials:

(show all 25)

id Name Status NCT ID Phase Drugs
1 Lansoprazole Versus Mosapride for Functional Dyspepsia Completed NCT00663897 Phase 4 lansoprazole;mosapride
2 Early Vascular Healing in Acute Coronary Syndrome Patients With Different Doses of Rosuvastatin Recruiting NCT03007524 Phase 4 High dose Rosuvastatin;Low dose Rosuvastatin
3 Tacrolimus Combined With Entecavir on HBV Associated Glomerulonephritis(HBV-GN) Recruiting NCT03062813 Phase 4 Tacrolimus &entecavir;placebo & entecavir
4 Tong-Xie-Yao-Fang Granules for Diarrhea-predominant Irritable Bowel Syndrome Completed NCT02538692 Phase 2, Phase 3 Tong-Xie-Yao-Fang;Placebo
5 Cardiovascular Outcomes Study of Alogliptin in Patients With Type 2 Diabetes and Acute Coronary Syndrome Completed NCT00968708 Phase 3 Alogliptin;Placebo
6 A Study to Evaluate Effectiveness and Safety of ER OROS Paliperidone in Patients With Schizophrenia Completed NCT00396565 Phase 3 ER OROS paliperidone;Placebo;Olanzapine
7 Effects and Safety of Liposome Encapsulated Botulinum Toxin A for Overactive Bladder Syndrome Completed NCT01167257 Phase 2 Liposome encapsulated botulinum toxin A;Normal saline instillation
8 Pazopanib Hydrochloride in Treating Patients With Advanced Neuroendocrine Cancer Completed NCT00454363 Phase 2 Pazopanib Hydrochloride
9 Evaluation of the Efficacy and the Mechanism of Chinese Herbal Formula SS-1 for Sjögren's Syndrome Recruiting NCT02110446 Phase 2 SS-1;Placebo
10 Phase IIa Trial of ALXN1007 for the Treatment of Non-criteria Manifestations of Antiphospholipid Syndrome Terminated NCT02128269 Phase 2
11 A Study to Evaluate the Safety of Apixaban in Acute Coronary Syndrome (ACS) Japanese Patients Terminated NCT00852397 Phase 2 Apixaban;Apixaban
12 Abatacept for Patients With Inflammatory Arthritis Associated With Sjögren's Syndrome: an Open-Label Phase II Study Withdrawn NCT02027298 Phase 2 Abatacept
13 Medical Treatment of Colitis in Patients With Hermansky-Pudlak Syndrome Withdrawn NCT00514982 Phase 2 Mesalamine;Infliximab;Corticosteroids;6-Mercaptopurine;Tacrolimus;Adalimumab
14 A Study of AbGn-168H in Patients With Steroid Refractory Acute Graft-vs-Host Disease After Donor Stem Cell Transplant Terminated NCT02436460 Phase 1
15 A Randomized, Double-blind, and Placebo-controlled Study on the Treatments of Irritable Bowel Syndrome Unknown status NCT01641224 Pinaverium;Ledebouriella Root;Radix codonopsitis;Radix curcumae;Fingered citron;Tuckahoe;Placebo
16 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
17 Abnormal Expression Proteins, Mitochondrial DNA and miRNA of Irritable Bowel Syndrome Unknown status NCT01028898
18 Impact of Mindfulness Based Stress Reduction on Anxiety, Depression and QOL in Women With Intrauterine Adhesion. Completed NCT02746679
19 Reproductive Outcome Affected by Two Adjunctive Treatments in Patients With Severe Intrauterine Adhesions Completed NCT02708277
20 CLCF1 Gene Associated With Postmenopausal Osteoporosis of Kidney Yin Deficiency Syndrome Recruiting NCT02981732
21 Comparing the Effect of Osteopathic Manipulative Medicine (OMM) Versus Counseling in the Treatment of Concussion Recruiting NCT02750566
22 A Prospective Study on the Incidence and Related Risk Factors of Infantile Hemangioma in China Recruiting NCT03173352
23 Evaluating the Impact of Baduanjin Exercise Intervention on Quality of Life in Breast Cancer Survivors Receiving Aromatase Inhibitor Therapy Recruiting NCT03162133
24 Pinaverium and Herbs for Irritable Bowel Syndrome Treatment: an Onset and Offset Study (PHIBEST) Active, not recruiting NCT02330029 Pinaverium;Ledebouriella Root;Radix codonopsitis;Radix curcumae;Fingered citron;Tuckahoe;Placebo
25 Gastroenteral-Pancreatic Neuroendocrine Tumors in Taiwan Enrolling by invitation NCT02102893

Search NIH Clinical Center for Yao Syndrome

Genetic Tests for Yao Syndrome

Genetic tests related to Yao Syndrome:

id Genetic test Affiliating Genes
1 Yao Syndrome 29

Anatomical Context for Yao Syndrome

MalaCards organs/tissues related to Yao Syndrome:

39
Bone, Kidney, Skin, Eye

Publications for Yao Syndrome

Variations for Yao Syndrome

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

71
id 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
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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