dilated cardiomyopathy 1A

Summary
Synonym
  • CDCD1
  • dilated cardiomyopathy with conduction defect 1
  • familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Definition
A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21.
Super Class
autosomal dominant disease dilated cardiomyopathy
External Links
Disease Ontology
DOID:0110425
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 51 - 60 of 74 in total
Gene ID Gene Symbol Description Source
6385 SDC4 syndecan 4
6389 SDHA succinate dehydrogenase complex flavoprotein subunit A
6390 SDHB succinate dehydrogenase complex iron sulfur subunit B
6484 ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4
6517 SLC2A4 solute carrier family 2 member 4
6523 SLC5A1 solute carrier family 5 member 1
6783 SULT1E1 sulfotransferase family 1E member 1
7108 TM7SF2 transmembrane 7 superfamily member 2
7368 UGT8 UDP glycosyltransferase 8
7941 PLA2G7 phospholipase A2 group VII
The Human Phenotype Ontology
Displaying entries 11 - 12 of 12 in total
HPO ID HPO Term
HP:0012764 Orthopnea
HP:0100578 Lipoatrophy
Displaying all 3 entries
Gene ID Gene Symbol Description
22845 DOLK dolichol kinase
6389 SDHA succinate dehydrogenase complex flavoprotein subunit A
2218 FKTN fukutin

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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: August 19, 2024