ODCs

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Supravalvular aortic stenosis

1 OMIM reference -
1 associated gene
1 sign/symptom

PROTEIN INTERACTIONS: 1

Isolated ectopia lentis

3 OMIM references -
2 associated genes
11 signs/symptoms

Supravalvular aortic stenosis

Isolated ectopia lentis

ELN	(UniProt - OMIM)		ADAMTSL4	(UniProt - OMIM)
			FBN1	(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		Isolated ectopia lentis
	Synonym(s): - SVAS - Supravalvar aortic stenosis		Synonym(s): - Ectopia lentis syndrome - Familial ectopia lentis

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare surgical cardiac disease		Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare systemic or rheumatologic 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: variable Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D021921		External references: 3 OMIM references - 2 MeSH references: C536184 / D004479

Supravalvular aortic stenosis		Isolated ectopia lentis
	Very frequent - Cardiac rhythm disorder / arrhythmia		Very frequent - Autosomal dominant inheritance - Lens dislocation / luxation / subluxation / ectopia lentis - Restricted joint mobility / joint stiffness / ankylosis Frequent - Depressed premaxillary region / midface - Intellectual deficit / mental / psychomotor retardation / learning disability - Prognathism / prognathia Occasional - Cataract / lens opacification - Chronic arterial hypertension - Nystagmus - Pupillary anomalies / mydriasis / myosis / tonic pupil - Visual loss / blindness / amblyopia