ODCs

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Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Blau syndrome

1 OMIM reference -
1 associated gene
43 signs/symptoms

Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema

Blau syndrome

IKBKG

(UniProt - OMIM)

NOD2

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	IKBKG	(0.63)	NOD2

Citations in the biomedical literature:

Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema		Blau syndrome
	Synonym(s): - OL-EDA-ID		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare bone disease - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare immune disease - Rare skin disease		Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare immune disease - Rare respiratory disease - Rare skin disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: x-linked recessive		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		External references: 1 OMIM reference - No MeSH references

Blau syndrome
	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
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
(no data available)