Details of Disease

General Information of Disease (ID: DIS14WNV)

Disease Name Developmental and epileptic encephalopathy, 44
Synonyms
epileptic encephalopathy, early infantile, 44; EIEE44; epileptic encephalopathy, early infantile, 44; UBA5 early infantile epileptic encephalopathy; early infantile epileptic encephalopathy caused by mutation in UBA5; epileptic encephalopathy, early infantile, type 44; developmental and epileptic encephalopathy 44; EIEE44; DEE44
Definition Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the UBA5 gene.
Disease Hierarchy
DISISEI2: Undetermined early-onset epileptic encephalopathy
DIS8837Y: Neonatal-onset developmental and epileptic encephalopathy
DISZOCA3: Epileptic encephalopathy
DIS14WNV: Developmental and epileptic encephalopathy, 44
Disease Identifiers
MONDO ID
MONDO_0014933
UMLS CUI
C4310700
OMIM ID
617132
MedGen ID
934667

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
UBA5 OTJ322WE Strong Autosomal recessive [1]
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References

1 Biallelic Variants in UBA5 Link Dysfunctional UFM1?Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy. Am J Hum Genet. 2016 Sep 1;99(3):683-694. doi: 10.1016/j.ajhg.2016.06.020. Epub 2016 Aug 18.