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).

Incidence and onset information

Not enough data available about incidence and published cases.

Yao Syndrome; Yaos Common symptoms

Top most frequent phenotypes related to Yao Syndrome; Yaos

  • Oral ulcer
  • Inflammatory abnormality of the skin
  • Pleuritis
  • Ventricular hypertrophy
  • Episodic fever
  • Pericarditis
  • Elevated erythrocyte sedimentation rate
  • Multifactorial inheritance
  • Asthma
  • Chest pain
And 5 less frequent phethotypes (you can get a complete list using our application).

Genes related to Yao Syndrome; Yaos

  • NOD2

Yao Syndrome; Yaos Recommended genes panels

Panel Name & Genes Tested specificity Genes covered
Blau Syndrome (NOD2/CARD15 Complete Gene)

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Crohn's Disease - NOD2/CARD15 Complete Gene Analysis

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NOD2 Deletion/duplication analysis

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NOD2 Sequencing

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NOD2. Complete sequencing

NOD2

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NOD2. Sequencing of the exons 5, 8 and 11

NOD2

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Sarcoidosis, early-onset (sequence analysis of NOD2 gene)

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Blau syndrome (sequence analysis of NOD2 gene)

NOD2

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Crohn disease (sequence analysis of NOD2 gene)

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Periodic Fever Syndromes Sequencing Panel

NOD2, TNFRSF1A, MEFV, IL36RN, PSMB8, ELANE, NLRP3, PSTPIP1, CARD14, LPIN2, NLRP12, MVK, TNFAIP3

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8 % 100 %
Pediatric Granulomatous Arthritis via the NOD2 Gene

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Nephrology Endocrinology and Electrolytes - panels

ACTA2, ACTN4, ALPL, AGT, APPL1, AGXT, AGTR1, ACE, BMP7, CHRM3, OFD1, COL4A3, COQ2, CUL3, CLCNKB, GLA, GCK, GRIP1, GREM1, INF2 , (...)

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Crohn Disease

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Autoinflammatory panel

NOD2, TNFRSF1A, IL10, IL36RN, PSMB8, NCSTN, IL10RB, NLRP3, MEFV, PSENEN, SH3BP2, PSTPIP1, IL1RN, LPIN2, NLRP7, PLCG2, IL10RA, MVK, NLRP12

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6 % 100 %
Sarcoidosis, early-onset

NOD2

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Blau syndrome

NOD2

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AllNeuro panel

ADSL, JRK, CAV3, VDAC1, AMPD2, ARSI, TTN, NEDD4L, TFG, DHTKD1, MAG, MTHFR, ABHD5, ACTG1, ALG12, ALG6, ACY1, ADK, AGXT, IDUA , (...)

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1 % 100 %
Crohn disease

NOD2

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Single gene testing NOD2

NOD2

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Autoinflammatory diseases Panel

HFE, IL10RB, NLRP3, NOD2, TNFRSF1A, IL10, IL36RN, PSMB8, RBCK1, MEFV, MVK, SLC29A3, IL10RA, LPIN2, NLRP12, PSTPIP1, CARD14, IL1RN, PLCG2, SH3BP2

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5 % 100 %
Syndromes with immunodeficiency Panel

NOD2, DOCK8, MCM4, RMRP, SAMHD1, DKC1, TBX1, TERC, NHP2, WAS, CFH, FGFR2, ZBTB24, TREX1, PMS2, NBN, ADAR, FGF10, TYK2, NLRP3 , (...)

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3 % 100 %
Crohn Disease (NOD2)

NOD2

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100 % 100 %
Periodic Fever Syndromes Spotlight Panel

NOD2, TNFRSF1A, MEFV, NLRP3, ELANE, PLCG2, MVK, SLC29A3, NLRP12, LPIN2, PSTPIP1

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10 % 100 %
Autoinflammatory Disorders Spotlight Panel

IL10RB, RBCK1, ADAM17, HFE, MEFV, PSMB8, TNFRSF1A, IL36RN, NCSTN, NOD2, PSENEN, LPIN2, COPA, NLRC4, CARD14, MVK, IL10RA, IL1RN, PLCG2, PSTPIP1 , (...)

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4 % 100 %
Invitae Primary Immunodeficiency Panel

ITGB2, JAGN1, FPR1, GFI1, CSF2RA, TPP2, PARN, HAX1, TERC, NOD2, ACD, SEMA3E, CSF3R, G6PC3, RTEL1, CD3G, B2M, RHOH, MAGT1, ZAP70 , (...)

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1 % 100 %
Invitae Autoinflammatory Syndromes Panel

RBCK1, TRNT1, IL10RB, ADAM17, NOD2, MEFV, IL36RN, ELANE, TNFRSF1A, PSMB8, IL10, NLRP3, IL10RA, LPIN2, ADA2, COPA, NLRC4, CARD14, MVK, NLRP12 , (...)

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4 % 100 %
Blau syndrome: NOD2 (CARD15) gene sequence analysis

NOD2

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100 % 100 %
Blau syndrome: NOD2 (CARD15) gene sequence analysis (exon 4)

NOD2

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100 % 100 %
Crohn disease: NOD2 (CARD15) gene mutation analysis (p.R702W, p.G908R,1007fs)

NOD2

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100 % 100 %
Crohn disease: NOD2 (CARD15) gene sequence analysis

NOD2

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100 % 100 %
NOD2

NOD2

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100 % 100 %
Chronic Granulomatous Disease Panel

CYBB, NCF4, NCF1, NOD2, CYBA, G6PD, NCF2

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15 % 100 %
Primary Immunodeficiency Panel

ACP5, TREX1, ADAR, AP3B1, AICDA, ATM, AIRE, CD19, CD3D, CD40LG, CASP8, CTSC, CD3G, OFD1, CD247, CD3E, CFI, DDX58, CCDC65, C1S , (...)

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1 % 100 %
Autoinflammatory Syndrome Panel

ACP5, TREX1, ADAR, DDX58, ELANE, MEFV, NLRP3, PSMB8, TNFRSF1A, SAMHD1, IL36RN, NOD2, IFIH1, LPIN2, MVK, IL1RN, PLCG2, PSTPIP1, NLRP12, RNASEH2B , (...)

View the complete list with 5 more genes

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4 % 100 %
Inflammatory bowel disease 1

NOD2

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100 % 100 %
BLAU SYNDROME

NOD2

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100 % 100 %
NOD2 Gene Sequencing

NOD2

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100 % 100 %
Periodic Fever NGS Panel

NOD2, TNFRSF1A, MEFV, NLRP3, ELANE, PSTPIP1, MVK, NLRP12, LPIN2

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12 % 100 %
CROHN´S DISEASE (SUSCEPTIBILITY)

NOD2

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100 % 100 %
Crohn Disease, Sequencing NOD2 Gene

NOD2

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100 % 100 %
Blau Syndrome , Sequencing NOD2 Gene

NOD2

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100 % 100 %
Crohn Disease, Mutations (p.R702W, p.G908R, 1007fs) NOD2 Gene

NOD2

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100 % 100 %
Crohn Disease

NOD2

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100 % 100 %

Sources

OMIM

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