Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
19 signs/symptoms
COMMON GENES: 1
1 OMIM reference -
2 associated genes
No signs/symptoms info
Ebstein malformation
Classic multiminicore myopathy

MYH7 MYH7
SEPN1


COMMON
GENES
MYH7



Citations in the biomedical literature:


Ebstein malformation
MYH7
Classic multiminicore myopathy
SEPN1



Ebstein malformation
Classic multiminicore myopathy

Synonym(s):
- Ebstein anomaly of the tricuspid valve

Synonym(s):
- Classic MmD
- Classic multiminicore disease

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

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

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:
(no data available)

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


Classic multiminicore myopathy

(no data available)