ODCs

Click node...

1 OMIM reference -
1 associated gene
1 sign/symptom

COMMON GENES: 1
PROTEIN INTERACTIONS: 1

2 OMIM references -
2 associated genes
14 signs/symptoms

Supravalvular aortic stenosis

Autosomal dominant cutis laxa

ELN	(UniProt - OMIM)		ELN	(UniProt - OMIM)
			FBLN5	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ELN	(0.76)	FBLN5

Citations in the biomedical literature:

Supravalvular aortic stenosis		Autosomal dominant cutis laxa
	Synonym(s): - SVAS - Supravalvar aortic stenosis		Synonym(s): - ADCL

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare surgical cardiac disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease - Rare surgical thoracic 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: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D021921		External references: 2 OMIM references - No MeSH references

Supravalvular aortic stenosis		Autosomal dominant cutis laxa
	Very frequent - Cardiac rhythm disorder / arrhythmia		Very frequent - Autosomal dominant inheritance - Loose skin / skin relaxation / excess skin / creases Frequent - Abnormal fat distribution / lipodystrophy - Broad cheeks / cherub-like / cherubin face - Colonic / intestinal / bowel diverticulosis / diverticulitis - Hyperextensible joints / articular hyperlaxity - Hypertelorism - Premature ageing Occasional - Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid - Cardiac valvulopathy - Emphysema - Herniae - Inguinal / inguinoscrotal / crural hernia - Pulmonary valve atresia / stenosis / narrowing