ODCs

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2 OMIM references -
2 associated genes
8 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Hypoplastic left heart syndrome

Autosomal recessive cutis laxa type 2B

GJA1	(UniProt - OMIM)		PYCR1	(UniProt - OMIM)
NKX2-5	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	GJA1	(0.63)	PYCR1

Citations in the biomedical literature:

Hypoplastic left heart syndrome		Autosomal recessive cutis laxa type 2B
	Synonym(s): (no synonyms)		Synonym(s): - ARCL2, progeroid type - ARCL2B - Autosomal recessive cutis laxa type 2, progeroid type

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare surgical cardiac disease		Classification (Orphanet): - Inborn errors of metabolism - Rare abdominal surgical disease - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare skin disease - Rare surgical thoracic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: unknown		Epidemiological data: (no data available)

	External references: 2 OMIM references - 1 MeSH reference: D018636		External references: 1 OMIM reference - No MeSH references

Hypoplastic left heart syndrome
	Very frequent - Hypoplastic left heart / ventricle - Stillbirth / neonatal death Frequent - Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption Occasional - Atrial septal defect / interauricular communication - Maternal diabetes - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Patent ductus arteriosus - Total / partial trisomy / duplication
Autosomal recessive cutis laxa type 2B
(no data available)