Details of Disease | DrugMAP

General Information of Disease (ID: DISX8GVU)

Disease Name	Developmental and epileptic encephalopathy, 29
Synonyms	early infantile epileptic encephalopathy caused by mutation in AARS; epileptic encephalopathy, early infantile, type 29; developmental and epileptic encephalopathy 29; epileptic encephalopathy, early infantile, 29; DEE29; EIEE29; AARS early infantile epileptic encephalopathy
Definition	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AARS gene.
Disease Hierarchy	DISISEI2: Undetermined early-onset epileptic encephalopathy DIS8837Y: Neonatal-onset developmental and epileptic encephalopathy DISZOCA3: Epileptic encephalopathy DISX8GVU: Developmental and epileptic encephalopathy, 29
Disease Identifiers	MONDO ID MONDO_0014593 UMLS CUI C4225361 OMIM ID 616339 MedGen ID 908570

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
AARS1	OTW8D813	Strong	Autosomal recessive	[1]
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References

1	Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect. Am J Hum Genet. 2015 Apr 2;96(4):675-81. doi: 10.1016/j.ajhg.2015.02.012. Epub 2015 Mar 26.