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Acute neonatal citrullinemia type I

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Autosomal dominant cutis laxa

2 OMIM references -
2 associated genes
14 signs/symptoms

Acute neonatal citrullinemia type I

Autosomal dominant cutis laxa

ASS1	(UniProt - OMIM)		ELN	(UniProt - OMIM)
			FBLN5	(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		Autosomal dominant cutis laxa
	Synonym(s): - Acute neonatal citrullinemia type 1 - Classic citrullinemia type 1 - Classic citrullinemia type I		Synonym(s): - ADCL

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease - Rare surgical thoracic 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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: No OMIM references No MeSH references		External references: 2 OMIM references - No MeSH references

Autosomal dominant cutis laxa
	Very frequent - Autosomal dominant inheritance - Loose skin / skin relaxation / excess skin / creases Frequent - Abnormal fat distribution / lipodystrophy - Broad cheeks / cherub-like / cherubin face - Colonic / intestinal / bowel diverticulosis / diverticulitis - Hyperextensible joints / articular hyperlaxity - Hypertelorism - Premature ageing Occasional - Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid - Cardiac valvulopathy - Emphysema - Herniae - Inguinal / inguinoscrotal / crural hernia - Pulmonary valve atresia / stenosis / narrowing
Acute neonatal citrullinemia type I
(no data available)