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).

Clinical Features

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

  • Pain
  • Fever
  • Diarrhea
  • Abdominal pain
  • Weight loss
  • Arthralgia
  • Myalgia
  • Arthritis
  • Camptodactyly
  • Autoimmunity

And another 17 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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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 (United States).

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

By Center for Genetics at Saint Francis Saint Francis Hospital (United States).

NOD2
Specificity
100 %
Genes
100 %
NOD2 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

NOD2
Specificity
100 %
Genes
100 %
NOD2 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

NOD2
Specificity
100 %
Genes
100 %
NOD2.

By Institute for Human Genetics University Clinic Freiburg (Germany).

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

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

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

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

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

By CGC Genetics (Portugal).

NOD2
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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