Details of Disease

General Information of Disease (ID: DIS8S849)

Disease Name Progressive myoclonic epilepsy type 8
Synonyms
epilepsy, progressive myoclonic, 8; progressive myoclonic epilepsy caused by mutation in CERS1; CERS1 progressive myoclonic epilepsy; PME type 8; EPM8; progressive myoclonus epilepsy type 8; epilepsy, progressive myoclonic, type 8; progressive myoclonic epilepsy due to CERS1 deficiency
Definition Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the CERS1 gene.
Disease Hierarchy
DIS0G6PI: Disorder of phospholipids, sphingolipids and fatty acids biosynthesis
DISAMCNS: Progressive myoclonus epilepsy
DIS8S849: Progressive myoclonic epilepsy type 8
Disease Identifiers
MONDO ID
MONDO_0014545
UMLS CUI
C5190825
OMIM ID
616230
MedGen ID
1680582
Orphanet ID
424027
SNOMED CT ID
783139000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CERS1 OT6EYRM3 Strong Autosomal recessive [1]
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References

1 Ablation of neuronal ceramide synthase 1 in mice decreases ganglioside levels and expression of myelin-associated glycoprotein in oligodendrocytes. J Biol Chem. 2012 Dec 7;287(50):41888-902. doi: 10.1074/jbc.M112.413500. Epub 2012 Oct 16.