Blau Syndrome

Description

Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.

Clinical Features

Top most frequent phenotypes and symptoms related to Blau Syndrome

  • Cataract
  • Anemia
  • Hypertension
  • Fever
  • Splenomegaly
  • Visual loss
  • Glaucoma
  • Dyspnea
  • Arthralgia
  • Photophobia

And another 35 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.

Researches and researchers

Doctors, researchs, and experts related to Blau Syndrome extracted from public data.

Blau Syndrome Experts map



Current Researchs and researchers

  • BRON — Pr Yves PACHECO

    Investigator of research project

    • Institution/s:
      — CHU de Lyon HCL - GH Est-Hôpital Louis Pradel
    • Research area/topic::

      Genetic transmission of familial forms of sarcoidosis


  • LYON — Pr Alain CALENDER

    Responsible for diagnostic tests - Investigator of research project - Manager of registry - Coordinator of research network - Director of laboratory

    • Institution/s:
      — CHU de Lyon HCL - GH Edouard Herriot
    • Research area/topic::

      Genetic transmission of familial forms of sarcoidosis


  • MONTPELLIER — Pr Isabelle TOUITOU

    Coordinator of expert centre - Clinical expert - Responsible for diagnostic tests - Investigator of research project - Manager of registry - Coordinator of research network - Director of laboratory

    • Institution/s:
      — Département Génétique Médicale, Maladies rares et médecine personnalisée, CHRU de Montpellier - Hôpital Arnaud de Villeneuve
      — Institut de Médecine Régénérative et Biothérapies, CHU de Montpellier - Hôpital Saint-Eloi
    • Research area/topic::

      International society of systemic autoinflammatory disorders



Mendelian

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Blau Syndrome 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 %

We have 39 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPONDYLOEPIPHYSEAL DYSPLASIA TARDA MILD CANAVAN DISEASE HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1 MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE; MDCMC COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12; COXPD12

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