ODCs

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1 OMIM reference -
1 associated gene
4 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
1 sign/symptom

Glaucoma - ectopia - microspherophakia - stiff joints - short stature

Supravalvular aortic stenosis


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

Citations in the biomedical literature:

Glaucoma - ectopia - microspherophakia - stiff joints - short stature		Supravalvular aortic stenosis
	Synonym(s): - Gemss syndrome		Synonym(s): - SVAS - Supravalvar aortic stenosis

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

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal dominant		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

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D021921

Glaucoma - ectopia - microspherophakia - stiff joints - short stature		Supravalvular aortic stenosis
	Very frequent - Autosomal dominant inheritance - Glaucoma - Lens dislocation / luxation / subluxation / ectopia lentis - Short stature / dwarfism / nanism		Very frequent - Cardiac rhythm disorder / arrhythmia