Details of Disease | DrugMAP

General Information of Disease (ID: DISKER8B)

Disease Name	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities
Synonyms	NELABA; lipoyltransferase 2 deficiency; encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities
Disease Hierarchy	DISYOKTG: Mendelian neurodevelopmental disorder DISP9UN3: Mendelian encephalopathy DISKER8B: Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities
Disease Identifiers	MONDO ID MONDO_0060562 UMLS CUI C4540052 OMIM ID 617668 MedGen ID 1624694

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
LIPT2	OTX1VQ3P	Strong	Autosomal recessive	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.