dilated cardiomyopathy 2G

Summary
Definition
A dilated cardiomyopathy that is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy and that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD2 gene on chromosome 7q31.
Super Class
autosomal recessive disease dilated cardiomyopathy
Disease Ontology
DOID:0081163
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
442721 LMOD2 leiomodin 2
The Human Phenotype Ontology
Displaying entries 11 - 12 of 12 in total
HPO ID HPO Term
HP:0003198 Myopathy
HP:0100578 Lipoatrophy
Displaying all 4 entries
Gene ID Gene Symbol Description
22845 DOLK dolichol kinase
2218 FKTN fukutin
6389 SDHA succinate dehydrogenase complex flavoprotein subunit A
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