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Supravalvular aortic stenosis

1 OMIM reference -
1 associated gene
1 sign/symptom

PROTEIN INTERACTIONS: 1

Acromicric dysplasia

1 OMIM reference -
1 associated gene
20 signs/symptoms

Supravalvular aortic stenosis

Acromicric dysplasia

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ELN	(0.89)	FBN1

Citations in the biomedical literature:

Supravalvular aortic stenosis		Acromicric dysplasia
	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 bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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 / 1 000 000 Average age onset: neonatal/infancy 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: C535662

Supravalvular aortic stenosis		Acromicric dysplasia
	Very frequent - Cardiac rhythm disorder / arrhythmia		Very frequent - Anomalies of eyelids, eyelashes and lacrimal system - Anteverted nares / nostrils - Autosomal dominant inheritance - Long philtrum - Round face - Short hand / brachydactyly - Short stature / dwarfism / nanism - Short / small nose - Small hand / acromicria Frequent - Long / large / bulbous nose - Microstomia / little mouth - Nerve conduction abnormality - Thick lips Occasional - Abnormal cry / voice / phonation disorder / nasal speech - Anomalies of spine, vertebrae and pelvis - Delayed bone age - Epiphyseal anomaly - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Metacarpal anomalies / Archibald's sign - Restricted joint mobility / joint stiffness / ankylosis