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 61 - 70 of 74 in total
Gene ID Gene Symbol Description Source
8809 IL18R1 interleukin 18 receptor 1
8972 MGAM maltase-glucoamylase
9173 IL1RL1 interleukin 1 receptor like 1
9365 KL klotho
10135 NAMPT nicotinamide phosphoribosyltransferase
10159 ATP6AP2 ATPase H+ transporting accessory protein 2
22845 DOLK dolichol kinase
23583 SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
55959 SULF2 sulfatase 2
57104 PNPLA2 patatin like phospholipase domain containing 2
The Human Phenotype Ontology
Displaying entries 1 - 10 of 12 in total
HPO ID HPO Term
HP:0000407 Sensorineural hearing impairment
HP:0000969 Edema
HP:0001635 Congestive heart failure
HP:0001644 Dilated cardiomyopathy
HP:0001727 Thromboembolic stroke
HP:0002875 Exertional dyspnea
HP:0003198 Myopathy
HP:0003457 EMG abnormality
HP:0011675 Arrhythmia
HP:0012378 Fatigue
Displaying all 3 entries
Gene ID Gene Symbol Description
22845 DOLK dolichol kinase
2218 FKTN fukutin
6389 SDHA succinate dehydrogenase complex flavoprotein subunit A

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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