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Acute neonatal citrullinemia type I

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Supravalvular aortic stenosis

1 OMIM reference -
1 associated gene
1 sign/symptom

Acute neonatal citrullinemia type I

Supravalvular aortic stenosis

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ASS1	(0.52)	ELN

Citations in the biomedical literature:

Acute neonatal citrullinemia type I		Supravalvular aortic stenosis
	Synonym(s): - Acute neonatal citrullinemia type 1 - Classic citrullinemia type 1 - Classic citrullinemia type I		Synonym(s): - SVAS - Supravalvar aortic stenosis

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare surgical cardiac disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: - Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		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: No OMIM references No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D021921

Supravalvular aortic stenosis
	Very frequent - Cardiac rhythm disorder / arrhythmia
Acute neonatal citrullinemia type I
(no data available)