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Supravalvular aortic stenosis
1 OMIM reference -
1 associated gene
32 connected diseases
1 sign/symptom
Disease Type of connection
Autosomal dominant cutis laxa
Williams syndrome
Autosomal recessive cutis laxa type 1
Acromicric dysplasia
Familial thoracic aortic aneurysm and aortic dissection
Geleophysic dysplasia
Glaucoma - ectopia - microspherophakia - stiff joints - short stature
Isolated ectopia lentis
Marfan syndrome type 1
Neonatal Marfan syndrome
Progeroid and marfanoid aspect-lipodystrophy syndrome
Shprintzen-Goldberg syndrome
Stiff skin syndrome
Weill-Marchesani syndrome
Synpolydactyly type 2
Hereditary sensorimotor neuropathy with hyperelastic skin
Lethal arteriopathy syndrome due to FBLN4 deficiency
Congenital contractural arachnodactyly
Congenital stromal corneal dystrophy
Metaphyseal anadysplasia
Granulomatosis with polyangiitis
B-cell chronic lymphocytic leukemia
Arthrogryposis-like syndrome
Bruck syndrome
Osteogenesis imperfecta type 5
Acute neonatal citrullinemia type I
Adult-onset citrullinemia type I
Autosomal dominant severe congenital neutropenia
Cyclic neutropenia
Familial renal amyloidosis due to lysozyme variant
Hereditary chronic pancreatitis
Tropical pancreatitis
Synonym(s):
- SVAS
- Supravalvar aortic stenosis
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare surgical cardiac disease
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
External references:
1 OMIM reference -
1 MeSH reference: D021921
Gene symbol UniProt reference OMIM reference
ELN P15502130160
Very frequent
- Cardiac rhythm disorder / arrhythmia