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Standards Ontologies Notations
dilated cardiomyopathy 1X

Summary
Synonym
  • CMD1X
  • dilated cardiomyopathy with mild or no proximal muscle weakness
Definition
A dilated cardiomyopathy that has_material_basis_in mutation in the FKTN gene on chromosome 9q31.
Super Class
autosomal recessive disease dilated cardiomyopathy
External Links
Disease Ontology
DOID:0110444
Mondo Disease Ontology
OMIM
Related Genes
Displaying entry 41 - 41 of 41 in total
Gene ID Gene Symbol Description Source
100507436 MICA MHC class I polypeptide-related sequence A
Displaying 1 entry
Gene ID Gene Symbol Description Source
246179 Fktn fukutin
Displaying 1 entry
Gene ID Gene Symbol Description Source
362520 Fktn fukutin
Displaying 1 entry
Gene ID Gene Symbol Description Source
100006345 fktn fukutin
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
495324 fktn.S fukutin S homeolog Xenopus laevis (African clawed frog)
100124956 fktn fukutin Xenopus tropicalis (tropical clawed frog)
Displaying all 3 entries
Gene ID Gene Symbol Description Source
173469 T07D3.4 Fukutin;Nucleotidyltransferase family protein
188207 T07A5.1 Uncharacterized protein
189104 W02B3.4 Uncharacterized protein
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 11 - 20 of 22 in total
HPO ID HPO Term
HP:0012764 Orthopnea
HP:0100578 Lipoatrophy
HP:0003391 Gowers sign
HP:0003701 Proximal muscle weakness
HP:0011462 Young adult onset
HP:0003596 Middle age onset
HP:0000007 Autosomal recessive inheritance
HP:0008981 Calf muscle hypertrophy
HP:0003557 Increased variability in muscle fiber diameter
HP:0012664 Reduced left ventricular ejection fraction
Displaying all 3 entries
Gene ID Gene Symbol Description
6389 SDHA succinate dehydrogenase complex flavoprotein subunit A
2218 FKTN fukutin
22845 DOLK dolichol kinase
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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