ODCs

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1 OMIM reference -
1 associated gene
1 sign/symptom

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 1

2 OMIM references -
2 associated genes
32 signs/symptoms

Supravalvular aortic stenosis

Autosomal recessive cutis laxa type 1

ELN	(UniProt - OMIM)		EFEMP2	(UniProt - OMIM)
			FBLN5	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ELN ELN	(0.76) (0.76)	EFEMP2 FBLN5

Citations in the biomedical literature:

Supravalvular aortic stenosis		Autosomal recessive cutis laxa type 1
	Synonym(s): - SVAS - Supravalvar aortic stenosis		Synonym(s): - ARCL1 - Autosomal recessive cutis laxa with severe systemic involvement - Autosomal recessive cutis laxa, pulmonary emphysema type

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare surgical cardiac disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare circulatory system 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: child / adolescent Type of inheritance: autosomal recessive

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


COMMON SIGNS	- Cardiac rhythm disorder / arrhythmia

Supravalvular aortic stenosis		Autosomal recessive cutis laxa type 1
	(no more signs)		Very frequent - Atelectasia / pulmonary collapse - Autosomal recessive inheritance - Bladder / vesical diverticulum - Diaphragmatic hernia / defect / agenesis - Emphysema - Loose skin / skin relaxation / excess skin / creases - Premature ageing - Recurrent urinary infections - Structural anomalies of the cardio-circulatory system Frequent - Aortic root dilatation / dilation / aneurysm - Arterial aneurism (excluding aorta) - Arterial stenosis / occlusion - Broad cheeks / cherub-like / cherubin face - Herniae - Hyperextensible joints / articular hyperlaxity - Inguinal / inguinoscrotal / crural hernia - Intestinal obstruction / ileus - Large fontanelle / delayed fontanelle closure - Ptosis Occasional - Colonic / intestinal / bowel diverticulosis / diverticulitis - Early death / lethality - Heart / cardiac failure - Hypothyroidy - Long hand / arachnodactyly - Motor deficit / trouble - Mutiple fractures / bone fragility - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Vesicorenal / vesicoureteral reflux - Wormian bones