Blau Syndrome; Blaus

Description

Blau syndrome is characterized by the triad of granulomatous arthritis, uveitis, and dermatitis. First described in 1985, it was considered to be distinct from sarcoidosis due to the early age of onset and autosomal dominant inheritance pattern. Published reports of sporadic cases of children with 'early-onset sarcoidosis' (EOS) with granulomatous involvement of different organs, primarily affecting joints, eyes, and skin, were suspected to represent the same disorder because the patients' characteristics were nearly identical. Subsequently, identical NOD2 mutations were identified in patients with Blau syndrome as well as in patients diagnosed with EOS, confirming earlier suspicions that they represented the same disease (summary by Borzutzky et al., 2010). Unlike older children diagnosed with sarcoidosis, these patients have no apparent pulmonary involvement; however, the disease is progressive and may result in severe complications such as blindness and/or joint destruction (Shetty and Gedalia, 1998).

Clinical Features

Top most frequent phenotypes and symptoms related to Blau Syndrome; Blaus

  • Hearing impairment
  • Failure to thrive
  • Cataract
  • Flexion contracture
  • Visual impairment
  • Hypertension
  • Peripheral neuropathy
  • Fever
  • Edema
  • Blindness

And another 38 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Blau Syndrome; Blaus Is also known as arthrocutaneouveal granulomatosis, granulomatous inflammatory arthritis, dermatitis, and uveitis, familial, eos, jabs syndrome, granulomatosis, familial juvenile systemic, acug, sarcoidosis, early-onset, granulomatosis, familial, blau type.

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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Blau Syndrome; Blaus 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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