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  

Genes related to Yao Syndrome; Yaos

  • NOD2

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
  • Xerostomia
  • Elevated erythrocyte sedimentation rate
  • 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).

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

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

NOD2
Specificity
100 %
Genes
100 %
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NOD2 Sequencing.

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

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

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

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

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

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

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

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

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

ALPL, AGT, APPL1, AGTR1, BMP7, CLCN5, OFD1, CEL, EMP2, COQ2, EYA1, GLA, GCK, GRIP1, GREM1, HNF1A, INF2, MYO1E, HNF4A, COL4A4 , (...)

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

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

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

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

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

MTOR, JRK, CAV3, NXF5, AMPD2, SCN3A, ZCCHC12, ARSI, USP8, TTN, TBL1XR1, TFG, DHTKD1, ERLIN1, LIMS2, MAG, DAG1, HMGCS2, MTR, PTS , (...)

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

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

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

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

CFH, BLM, FCGR3A, DOCK8, DNMT3B, DKC1, FGFR2, TINF2, ATM, RUNX2, TERT, PMS2, SPINK5, SAMHD1, SMARCAL1, SP110, PDGFRA, NBN, NOD2, ADAR , (...)

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

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

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

SH3BP2, ADAM17, COPA, NLRC4, IL1RN, PLCG2, TMEM173, ADA2, NCSTN, PSENEN, TNFAIP3, HFE, MEFV, LPIN2, MVK, IL10RA, PSTPIP1, NLRP12, PSMB8, RBCK1 , (...)

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

DCLRE1B, CASP10, TNFSF12, FPR1, GFI1, VPS45, CSF2RA, TPP2, HAX1, NFAT5, TERT, SEMA3E, CSF3R, RTEL1, IL2RG, B2M, RHOH, MAGT1, CARD11, ZAP70 , (...)

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

SH3BP2, NFAT5, ADA2, COPA, NLRC4, IL1RN, IL10, PLCG2, ADAM17, NOD2, RBCK1, TRNT1, ELANE, IL10RB, CARD14, MVK, TNFRSF1A, MEFV, NLRP3, SLC29A3 , (...)

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

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

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

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

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

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

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

AK2, ADIPOQ, ADIPOR1, ADA, ADIPOR2, ATM, CASP10, CD3D, CTSC, CD40, OFD1, SERPING1, C4BPB, CD3E, CFD, CCNO, DOCK2, C1QC, C1S, C5 , (...)

View the complete list with 212 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage
Autoinflammatory Syndrome Panel.

IL1RN, PLCG2, TMEM173, SAMHD1, ACP5, TREX1, ADAR, DDX58, ELANE, IFIH1, MEFV, LPIN2, MVK, PSTPIP1, NLRP12, NLRP3, PSMB8, RNASEH2B, TNFRSF1A, ISG15 , (...)

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

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

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

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

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

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

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

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

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

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

CSK, TWIST1, NUMBL, FBXW11, MSH3, EZH1, PIM1, KLF12, CDX2, ESPL1, SETD1A, HOXC11, INTS12, EIF1AX, NAB1, NRG3, SKI, SF1, PBX3, PAK5 , (...)

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

Sources

OMIM

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