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Progeroid and marfanoid aspect-lipodystrophy syndrome

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Supravalvular aortic stenosis

1 OMIM reference -
1 associated gene
1 sign/symptom

Progeroid and marfanoid aspect-lipodystrophy syndrome

Supravalvular aortic stenosis

(UniProt - OMIM)

(UniProt - OMIM)


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

Citations in the biomedical literature:

Progeroid and marfanoid aspect-lipodystrophy syndrome		Supravalvular aortic stenosis
	Synonym(s): (no synonyms)		Synonym(s): - SVAS - Supravalvar aortic stenosis

	Classification (Orphanet): - Rare genetic disease - Rare systemic or rheumatologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare surgical cardiac disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available 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: No OMIM references No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D021921

Supravalvular aortic stenosis
	Very frequent - Cardiac rhythm disorder / arrhythmia
Progeroid and marfanoid aspect-lipodystrophy syndrome
(no data available)