Details of Disease

General Information of Disease (ID: DISSGXC8)

Disease Name Developmental and epileptic encephalopathy, 25
Synonyms
SLC13A5 deficiency; epileptic encephalopathy, early infantile, 25; SLC13A5 Citrate Transporter Disorder; early infantile epileptic encephalopathy caused by mutation in SLC13A5; SLC13A5 early infantile epileptic encephalopathy; DEE25; EIEE25; developmental and epileptic encephalopathy 25, with amelogenesis imperfecta; early infantile epileptic encephalopathy 25; developmental and epileptic encephalopathy, 25; epileptic encephalopathy, early infantile, type 25
Definition Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC13A5 gene.
Disease Hierarchy
DISISEI2: Undetermined early-onset epileptic encephalopathy
DIS8837Y: Neonatal-onset developmental and epileptic encephalopathy
DISZOCA3: Epileptic encephalopathy
DISSGXC8: Developmental and epileptic encephalopathy, 25
Disease Identifiers
MONDO ID
MONDO_0014392
UMLS CUI
C4014621
OMIM ID
615905
MedGen ID
863058

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SLC13A5 TTFIMH7 moderate CausalMutation [1]
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This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC13A5 DTFPWJ9 Strong Autosomal recessive [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
C17orf100 OTHWVWC8 Strong Genetic Variation [3]
SLC13A5 OTPH1TA7 Strong Autosomal recessive [2]
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References

1 Disease Heterogeneity in Na(+)/Citrate Cotransporter Deficiency.JIMD Rep. 2017;31:107-111. doi: 10.1007/8904_2016_546. Epub 2016 Mar 10.
2 Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life. Am J Hum Genet. 2014 Jul 3;95(1):113-20. doi: 10.1016/j.ajhg.2014.06.006.
3 Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle.Mol Genet Metab. 2017 Aug;121(4):314-319. doi: 10.1016/j.ymgme.2017.06.009. Epub 2017 Jun 24.