atrial heart septal defect 3

Summary
Synonym
  • ASD3
  • atrial septal defect 3
Definition
An atrial heart septal defect type 3 that has_material_basis_in heterozygous mutation in the myosin heavy chain-6 gene (MYH6) on chromosome 14q12.
Super Class
atrial heart septal defect
Disease Ontology
DOID:0110108
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
17888 Myh6 myosin, heavy polypeptide 6, cardiac muscle, alpha
The Human Phenotype Ontology
Displaying entries 21 - 30 of 33 in total
HPO ID HPO Term
HP:0005133 Right ventricular dilatation
HP:0012382 Left-to-right shunt
HP:0005957 Breathing dysregulation
HP:0003546 Exercise intolerance
HP:0011675 Arrhythmia
HP:0005115 Supraventricular arrhythmia
HP:0012378 Fatigue
HP:0005317 Increased pulmonary vascular resistance
HP:0012764 Orthopnea
HP:0005162 Abnormal left ventricular function
Displaying 1 entry
Gene ID Gene Symbol Description
70 ACTC1 actin alpha cardiac muscle 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024