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 31 - 40 of 74 in total
Gene ID Gene Symbol Description Source
4245 MGAT1 alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
4351 MPI mannose phosphate isomerase
4360 MRC1 mannose receptor C-type 1
4594 MMUT methylmalonyl-CoA mutase
4684 NCAM1 neural cell adhesion molecule 1
5095 PCCA propionyl-CoA carboxylase subunit alpha
5096 PCCB propionyl-CoA carboxylase subunit beta
5236 PGM1 phosphoglucomutase 1
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
5291 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
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