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Supravalvular aortic stenosis

1 OMIM reference -
1 associated gene
1 sign/symptom

PROTEIN INTERACTIONS: 1

Arthrogryposis-like syndrome

1 OMIM reference -
1 associated gene
11 signs/symptoms

Supravalvular aortic stenosis

Arthrogryposis-like syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ELN	(0.55)	FKBP10

Citations in the biomedical literature:

Supravalvular aortic stenosis		Arthrogryposis-like syndrome
	Synonym(s): - SVAS - Supravalvar aortic stenosis		Synonym(s): - Kuskokwim disease

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare surgical cardiac disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic 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: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive

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

Supravalvular aortic stenosis		Arthrogryposis-like syndrome
	Very frequent - Cardiac rhythm disorder / arrhythmia		Very frequent - Abnormal gait - Autosomal recessive inheritance - Patella absent / abnormal (excluding luxation) - Restricted joint mobility / joint stiffness / ankylosis Frequent - Talipes-varus / metatarsal varus Occasional - Abnormal vertebral size / shape - Areflexia / hyporeflexia - Clavicle absent / abnormal - Pigmented naevi / naevus pigmentosus / lentigo - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Scoliosis