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Blau syndrome
1 OMIM reference -
1 associated gene
14 connected diseases
43 signs/symptoms
Disease Type of connection
Behçet disease
X-linked lymphoproliferative disease
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
Pulverulent cataract
Amyotrophic lateral sclerosis
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Autosomal dominant hypohidrotic ectodermal dysplasia
Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
MALT lymphoma
Papillary or follicular thyroid carcinoma
Vitiligo-associated autoimmune disease
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare immune disease
- Rare respiratory disease
- Rare skin disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
NOD2 Q9HC29605956
Very frequent
- Arthritis / synovitis / synovial proliferation
- Articular / joint pain / arthralgia
- Autosomal dominant inheritance
- Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Cutaneous rash
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Follicular / erythematous / edematous papules / milium
- Hydrarthrosis / articular / joint effusion
- Macules
- Restricted joint mobility / joint stiffness / ankylosis

Frequent
- Camptodactyly of fingers
- Cataract / lens opacification
- Dry / squaly skin / exfoliation
- Fever / chilling
- Glaucoma
- Photophobia

Occasional
- Anaemia
- Anomaly / ectopia / hypoplasia / atresia of salivary glands / salivary duct
- Aortic root dilatation / dilation / aneurysm
- Central neuropathy
- Choroidal anomalies / atrophy / choroideremia
- Chronic arterial hypertension
- Chronic skin infection / ulcerations / ulcers / cancrum
- Facial palsy
- Functional anomalies of the liver and the biliary tract
- Ichthyosis / ichthyosiform dermatitis
- Interstitial nephropathy
- Kidney / renal neoplasm / tumor / carcinoma / cancer
- Lymphadenopathy / polyadenopathies
- Mouth dryness / xerostomia
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Pericardium anomalies / pericarditis / absence / cysts / pericardial effusion
- Pulmonary hypertension
- Purpura / petichiae
- Renal disease / nephropathy
- Renal failure
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Retinopathy
- Retrobulbar optic neuritis
- Splenomegaly
- Vascularitis / vasculitides / arteritis
- Visual loss / blindness / amblyopia