ODCs

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1 OMIM reference -
1 associated gene
19 signs/symptoms

PROTEIN INTERACTIONS: 1

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

Ebstein malformation

Helicoid peripapillary chorioretinal degeneration


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MYH7	(0.75)	TEAD1

Citations in the biomedical literature:

Ebstein malformation		Helicoid peripapillary chorioretinal degeneration
	Synonym(s): - Ebstein anomaly of the tricuspid valve		Synonym(s): - Atrophia areata - SCRA - Sveinsson chorioretinal atrophy

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare surgical cardiac disease		Classification (Orphanet): - Rare eye disease - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the eye and adnexa -

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: variable Average age of death: any age Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

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

Ebstein malformation
	Very frequent - Asthenia / fatigue / weakness - Atrial septal defect / interauricular communication - Autosomal recessive inheritance - Congenital cardiac anomaly / malformation / cardiopathy - Prematurity - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - tricuspid valve atresia / stenosis / narrowing - Tricuspid valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly Frequent - Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block - Cardiac rhythm disorder / arrhythmia - Cardiac septal defect - Patent ductus arteriosus - Thoracic / chest pain Occasional - Arterial embolism / thrombosis - Arterial pulse abolition - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest - Endocardium anomalies / fibroelastosis / endocarditis - Heart / cardiac failure - Transient cerebral ischemia / stroke
Helicoid peripapillary chorioretinal degeneration
(no data available)