IllnessBlau-Syndrom
Summary
ID
BS0001
Number of genes
1
Accredited laboratory test
Examined sequence length
3,2 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
BS0001_DH
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
NOD2 | 3123 | NM_022162.3 | AD |
Informations about the disease
Clinical Comment
Blau syndrome is a subtype of sarcoidosis, which is characterized by early manifestations of granulomatous arthritis, uveitis and skin rashes. The symptoms usually begin early, with patients as young as one month old being described. There is redness and a rash on the face, which quickly spreads to the trunk. These symptoms occur episodically and disappear without treatment. Around the age of 10, the typical arthritis symptoms on the feet and wrists begin. The cause is a pathogenic variant in the NOD2 gene.
However, a negative molecular genetic result does not rule out a disease in the diagnostic spectrum of sarcoidosis.
(Reference: https://www.orpha.net/en/disease/detail/90340)
Synonyms
- Blau Syndrom
- Jabs syndrome
- Jabs-Blau-Syndorm
- Jabs-Krankheit
- arthrocutaneouveal granulomatosis
- blau syndrome
- familiäres juveniles systemisches Granulomatose-Syndrom
- granulomatosis, familial juvenile systemic
- granulomatosis, familial, blau type
- granulomatous inflammatory arthritis, dermatitis, and uveitis, familial
- granulomatöse periorifaziale Dermatitis
- sarcoidosis, early-onset
Heredity, heredity patterns etc.
- AD
OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined