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Supravalvular aortic stenosis

1 OMIM reference -
1 associated gene
1 sign/symptom

PROTEIN INTERACTIONS: 1

Cyclic neutropenia

1 OMIM reference -
1 associated gene
15 signs/symptoms

Supravalvular aortic stenosis

Cyclic neutropenia

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ELN	(0.52)	ELANE

Citations in the biomedical literature:

Supravalvular aortic stenosis		Cyclic neutropenia
	Synonym(s): - SVAS - Supravalvar aortic stenosis		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare surgical cardiac disease		Classification (Orphanet): - Rare genetic disease - Rare immune disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: variable Average age of death: no data available Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D021921		External references: 1 OMIM reference - 1 MeSH reference: C536227

Supravalvular aortic stenosis		Cyclic neutropenia
	Very frequent - Cardiac rhythm disorder / arrhythmia		Very frequent - Anaemia - Asthenia / fatigue / weakness - Chronic skin infection / ulcerations / ulcers / cancrum - Fever / chilling - Polynuclear cells / neutrophils anomalies / neutropenia - Sepsis severe / septicemia Frequent - Alveolysis / paraodontitis Occasional - Acute abdominal pain / colic - Autosomal dominant inheritance - Enanthema / aphtosa / aphta / leukoplakia - Eosinophils anomalies / hypereosinophilia - Lymphadenopathy / polyadenopathies - Multiple caries - Repeat respiratory infections - Thrombocytopenia / thrombopenia