ODCs

Cytoscape Web

Click node...

Supravalvular aortic stenosis

1 OMIM reference -
1 associated gene
1 sign/symptom

PROTEIN INTERACTIONS: 1

Stiff skin syndrome

2 OMIM references -
1 associated gene
24 signs/symptoms

Supravalvular aortic stenosis

Stiff skin syndrome

(UniProt - OMIM)

(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		Stiff skin syndrome
	Synonym(s): - SVAS - Supravalvar aortic stenosis		Synonym(s): (no synonyms)

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	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: (no data available)

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

Supravalvular aortic stenosis		Stiff skin syndrome
	Very frequent - Cardiac rhythm disorder / arrhythmia		Very frequent - Autosomal dominant inheritance - Dermal / subcutaneous infiltration / induration - Restricted joint mobility / joint stiffness / ankylosis - Thick skin / pachydermia / orange skin - Tight skin / lack of elasticity Occasional - Abnormal fat distribution / lipodystrophy - Chronic arterial hypertension - Glaucoma - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Insensitivity to pain - Insulin-independent / type 2 diabetes - Lipoatrophy - Mid-facial hypoplasia / short / small midface - Muscle anomalies - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Muscle weakness / flaccidity - Peripheral neuropathy - Retinal detachment - Sensorineural deafness / hearing loss - Short stature / dwarfism / nanism - Skin hypoplasia / aplasia / atrophy - Strabismus / squint - Subcutaneous nodules / lipomas / tumefaction / swelling - Urinary / renal lithiasis / kidney stones / nephritic colic