Blau Syndrome

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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.

Genes related to Blau Syndrome

NOD2

View recommended genes panels

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.

Click here to know more about Mendelian.

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

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 %