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
Disease Ontology
DOID:0110425
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
4000 LMNA lamin A/C
4001 LMNB1 lamin B1
84444 DOT1L DOT1 like histone lysine methyltransferase
84823 LMNB2 lamin B2
Displaying all 4 entries
Gene ID Gene Symbol Description Source
16905 Lmna lamin A
16906 Lmnb1 lamin B1
16907 Lmnb2 lamin B2
208266 Dot1l DOT1 like histone lysine methyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
116685 Lmnb1 lamin B1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 12 in total
HPO ID HPO Term
HP:0001644 Dilated cardiomyopathy
HP:0003457 EMG abnormality
HP:0000969 Edema
HP:0012378 Fatigue
HP:0002875 Exertional dyspnea
HP:0000407 Sensorineural hearing impairment
HP:0011675 Arrhythmia
HP:0001727 Thromboembolic stroke
HP:0012764 Orthopnea
HP:0001635 Congestive heart failure
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