Details of Disease | DrugMAP

General Information of Disease (ID: DIS3UTZA)

Disease Name	Lipoyl transferase 1 deficiency
Synonyms	LIPT1D; lipoyltransferase 1 deficiency
Disease Hierarchy	DIS5L41Q: Inherited lipoic acid biosynthesis defect DIS3UTZA: Lipoyl transferase 1 deficiency
Disease Identifiers	MONDO ID MONDO_0014576 UMLS CUI C4225379 OMIM ID 616299 MedGen ID 904073 Orphanet ID 401862

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LIPT1	OT2KCI00	Strong	Autosomal recessive	[1]
MITD1	OTYFKKJ9	Strong	CausalMutation	[2]
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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.
2	Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. Orphanet J Rare Dis. 2013 Dec 17;8:192. doi: 10.1186/1750-1172-8-192.