Yao Syndrome; Yaos

Description

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).

  Similar diseases  

Clinical Features

Top most frequent phenotypes and symptoms related to Yao Syndrome; Yaos

  • Pleuritis
  • Oral ulcer
  • Inflammatory abnormality of the skin
  • Ventricular hypertrophy
  • Episodic fever
  • Pericarditis
  • Keratoconjunctivitis sicca
  • Elevated erythrocyte sedimentation rate
  • Xerostomia
  • Multifactorial inheritance
View the complete list of symptoms

Incidence and onset information

Not enough data available about incidence and published cases.

Yao Syndrome; Yaos Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Blau Syndrome (NOD2/CARD15 Complete Gene).

By Center for Genetics at Saint Francis Saint Francis Hospital in United States.

NOD2
Specificity
100 %
Genes
100 %
Compare panel coverage
Crohn's Disease - NOD2/CARD15 Complete Gene Analysis.

By Center for Genetics at Saint Francis Saint Francis Hospital in United States.

NOD2
Specificity
100 %
Genes
100 %
Compare panel coverage
NOD2 Deletion/duplication analysis.

By Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center in United States.

NOD2
Specificity
100 %
Genes
100 %
Compare panel coverage
NOD2 Sequencing.

By Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center in United States.

NOD2
Specificity
100 %
Genes
100 %
Compare panel coverage
NOD2.

By Institute for Human Genetics University Clinic Freiburg in Germany.

NOD2
Specificity
100 %
Genes
100 %
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NOD2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

NOD2
Specificity
100 %
Genes
100 %
Compare panel coverage
NOD2. Sequencing of the exons 5, 8 and 11.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

NOD2
Specificity
100 %
Genes
100 %
Compare panel coverage
Sarcoidosis, early-onset (sequence analysis of NOD2 gene).

By CGC Genetics in Portugal.

NOD2
Specificity
100 %
Genes
100 %
Compare panel coverage
Blau syndrome (sequence analysis of NOD2 gene).

By CGC Genetics in Portugal.

NOD2
Specificity
100 %
Genes
100 %
Compare panel coverage
Crohn disease (sequence analysis of NOD2 gene).

By CGC Genetics in Portugal.

NOD2
Specificity
100 %
Genes
100 %
Compare panel coverage
Periodic Fever Syndromes Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

MVK, PSMB8, MEFV, NOD2, NLRP3, ELANE, TNFRSF1A, LPIN2, PSTPIP1, NLRP12, IL36RN, CARD14, TNFAIP3
Specificity
8 %
Genes
100 %
Compare panel coverage
Pediatric Granulomatous Arthritis via the NOD2 Gene.

By PreventionGenetics PreventionGenetics in United States.

NOD2
Specificity
100 %
Genes
100 %
Compare panel coverage
Nephrology Endocrinology and Electrolytes - panels.

By Medizinisch Genetisches Zentrum München MGZ München in Germany.

VHL, ALPL, HNF1A, NEUROD1, EYA1, WT1, HNF1B, RET, OCRL, GCK, COQ9, PDSS2, COQ6, CYP24A1, COQ2, AGXT, SLC3A1, LMX1B, PAX2, GLA , (...)

View the complete list with 97 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage
Crohn Disease.

By Bioscientia GmbH Center for Human Genetics in Germany.

NOD2, IL6
Specificity
50 %
Genes
100 %
Compare panel coverage
Autoinflammatory panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

MVK, PSMB8, MEFV, SH3BP2, NOD2, NLRP3, TNFRSF1A, IL10RA, IL10RB, LPIN2, PSTPIP1, NLRP12, IL36RN, NCSTN, PSENEN, IL1RN, NLRP7, IL10, PLCG2
Specificity
6 %
Genes
100 %
Compare panel coverage
Sarcoidosis, early-onset.

By Centogene AG - the Rare Disease Company in Germany.

NOD2
Specificity
100 %
Genes
100 %
Compare panel coverage
Blau syndrome.

By Centogene AG - the Rare Disease Company in Germany.

NOD2
Specificity
100 %
Genes
100 %
Compare panel coverage
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage
Crohn disease.

By bio.logis Center for Human Genetics in Germany.

NOD2
Specificity
100 %
Genes
100 %
Compare panel coverage
Single gene testing NOD2.

By CeGaT GmbH in Germany.

NOD2
Specificity
100 %
Genes
100 %
Compare panel coverage
Autoinflammatory diseases Panel.

By CeGaT GmbH in Germany.

HFE, MVK, PSMB8, MEFV, SH3BP2, NOD2, NLRP3, SLC29A3, TNFRSF1A, IL10RA, IL10RB, LPIN2, PSTPIP1, NLRP12, IL36RN, CARD14, IL1RN, IL10, RBCK1, PLCG2
Specificity
5 %
Genes
100 %
Compare panel coverage
Syndromes with immunodeficiency Panel.

By CeGaT GmbH in Germany.

PMS2, STAT3, BLM, RMRP, RUNX2, TINF2, FGFR2, ATM, MRE11, NBN, WAS, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, TBX1, DKC1, TERC, TERT , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Compare panel coverage
Crohn Disease (NOD2).

By MVZ Dortmund Dr. Eberhard and Partner in Germany.

NOD2
Specificity
100 %
Genes
100 %
Compare panel coverage
Periodic Fever Syndromes Spotlight Panel.

By Courtagen Diagnostics Laboratory Courtagen Life Sciences in United States.

MVK, MEFV, NOD2, NLRP3, SLC29A3, ELANE, TNFRSF1A, LPIN2, PSTPIP1, NLRP12, PLCG2
Specificity
10 %
Genes
100 %
Compare panel coverage
Autoinflammatory Disorders Spotlight Panel.

By Courtagen Diagnostics Laboratory Courtagen Life Sciences in United States.

HFE, MVK, PSMB8, MEFV, SH3BP2, NOD2, SLC29A3, TNFRSF1A, IL10RA, NLRC4, IL10RB, LPIN2, ADA2, PSTPIP1, NLRP12, TMEM173, IL36RN, CARD14, TNFAIP3, NCSTN , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Compare panel coverage
Invitae Primary Immunodeficiency Panel.

By Invitae in United States.

PMS2, STAT1, SLC37A4, CASP8, TLR3, HAX1, AP3B1, UNG, TAP1, TAZ, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage
Invitae Autoinflammatory Syndromes Panel.

By Invitae in United States.

MVK, PSMB8, MEFV, SH3BP2, NOD2, NLRP3, SLC29A3, ELANE, TNFRSF1A, IL10RA, NLRC4, IL10RB, LPIN2, ADA2, PSTPIP1, NLRP12, TRNT1, IL36RN, CARD14, IL1RN , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Compare panel coverage
Blau syndrome: NOD2 (CARD15) gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

NOD2
Specificity
100 %
Genes
100 %
Compare panel coverage
Blau syndrome: NOD2 (CARD15) gene sequence analysis (exon 4).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

NOD2
Specificity
100 %
Genes
100 %
Compare panel coverage
Crohn disease: NOD2 (CARD15) gene mutation analysis (p.R702W, p.G908R,1007fs).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

NOD2
Specificity
100 %
Genes
100 %
Compare panel coverage
Crohn disease: NOD2 (CARD15) gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

NOD2
Specificity
100 %
Genes
100 %
Compare panel coverage
NOD2.

By Fulgent Genetics Fulgent Genetics in United States.

NOD2
Specificity
100 %
Genes
100 %
Compare panel coverage
Chronic Granulomatous Disease Panel.

By Blueprint Genetics in Finland.

CYBA, G6PD, CYBB, NCF2, NCF4, NOD2, NCF1
Specificity
15 %
Genes
100 %
Compare panel coverage
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, STAT1, SLC37A4, CASP8, RPGR, CCDC39, HAX1, AP3B1, TAP1, AK2, TCIRG1, CYBA, STAT3, ADA, IL2RG, PNP, AIRE, BLM, IKBKG, NRAS , (...)

View the complete list with 210 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage
Autoinflammatory Syndrome Panel.

By Blueprint Genetics in Finland.

SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, MVK, PSMB8, MEFV, NOD2, NLRP3, ADAR, ELANE, TNFRSF1A, LPIN2, ISG15, PSTPIP1, NLRP12, TMEM173, IFIH1, IL36RN , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Compare panel coverage
Inflammatory bowel disease 1.

By Bioarray in Spain.

NOD2
Specificity
100 %
Genes
100 %
Compare panel coverage
BLAU SYNDROME.

By Bioarray in Spain.

NOD2
Specificity
100 %
Genes
100 %
Compare panel coverage
NOD2 Gene Sequencing.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

NOD2
Specificity
100 %
Genes
100 %
Compare panel coverage
Periodic Fever NGS Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

MVK, MEFV, NOD2, NLRP3, ELANE, TNFRSF1A, LPIN2, PSTPIP1, NLRP12
Specificity
12 %
Genes
100 %
Compare panel coverage
CROHN´S DISEASE (SUSCEPTIBILITY).

By Laboratorio de Genetica Clinica SL in Spain.

NOD2
Specificity
100 %
Genes
100 %
Compare panel coverage
Crohn Disease, Sequencing NOD2 Gene.

By Reference Laboratory Genetics in Spain.

NOD2
Specificity
100 %
Genes
100 %
Compare panel coverage
Blau Syndrome , Sequencing NOD2 Gene.

By Reference Laboratory Genetics in Spain.

NOD2
Specificity
100 %
Genes
100 %
Compare panel coverage
Crohn Disease, Mutations (p.R702W, p.G908R, 1007fs) NOD2 Gene.

By Reference Laboratory Genetics in Spain.

NOD2
Specificity
100 %
Genes
100 %
Compare panel coverage
Crohn Disease.

By Labor Dr. Wisplinghoff in Germany.

NOD2
Specificity
100 %
Genes
100 %
Compare panel coverage
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH6, MLH1, PMS2, MSH2, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage


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