Details of Disease | DrugMAP

General Information of Disease (ID: DISA15DM)

Disease Name	Developmental and epileptic encephalopathy, 39
Synonyms	aspartate-glutamate carrier 1 deficiency; hypomyelination, global cerebral; early infantile epileptic encephalopathy caused by mutation in SLC25A12; AGC1 deficiency; mitochondrial aspartate-glutamate carrier 1 deficiency; developmental and epileptic encephalopathy 39; epileptic encephalopathy, early infantile, 39; epileptic encephalopathy with global cerebral demyelination; DEE39; EIEE39; SLC25A12 early infantile epileptic encephalopathy
Definition	A rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.
Disease Hierarchy	DISHNY7Q: Mitochondrial substrate carrier disorder DIS8837Y: Neonatal-onset developmental and epileptic encephalopathy DISZOCA3: Epileptic encephalopathy DISA15DM: Developmental and epileptic encephalopathy, 39
Disease Identifiers	MONDO ID MONDO_0013056 MESH ID C567847 UMLS CUI C2751855 OMIM ID 612949 MedGen ID 414492 Orphanet ID 353217

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC25A12	DT85HYR	Strong	Biomarker	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACAN	OTUOCW8K	Strong	Biomarker	[1]
SLC25A12	OTB4YBVT	Strong	Autosomal recessive	[2]
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References

1	Deficiency of Mitochondrial Aspartate-Glutamate Carrier 1 Leads to Oligodendrocyte Precursor Cell Proliferation Defects Both In Vitro and In Vivo.Int J Mol Sci. 2019 Sep 11;20(18):4486. doi: 10.3390/ijms20184486.
2	AGC1 deficiency associated with global cerebral hypomyelination. N Engl J Med. 2009 Jul 30;361(5):489-95. doi: 10.1056/NEJMoa0900591.