Lipoamide Dehydrogenase Deficiency malady

MalaCards: Lipoamide Dehydrogenase Deficiency, also known as nadh cytochrome b5 reductase deficiency, is related to protein s deficiency and myocarditis. An important gene associated with Lipoamide Dehydrogenase Deficiency is DLD (dihydrolipoamide dehydrogenase), and among its related pathways are Regulation of pyruvate dehydrogenase (PDH) complex and Glycolysis / Gluconeogenesis. The compounds 2-oxo acid and dihydrolipoamide have been mentioned in the context of this disorder.

lipoamide dehydrogenase deficiency 30 nadh cytochrome b5 reductase deficiency 43

Diseases related to lipoamide dehydrogenase deficiency by text searches and GeneDecks gene sharing:

(show all 14)

id	Related Disease	Score	Top Affiliating Genes
1	protein s deficiency	12.4	F2, DLD
2	myocarditis	12.4	F2, DLD
3	cholangitis	12.3	F2, DLAT
4	autoimmune hepatitis	12.3	DLAT, F2
5	vaginitis	12.1	DLAT, F2
6	dmd-associated dilated cardiomyopathy	12.1	F2, DLAT
7	galactosemia	12.0	F2, DLAT
8	lactic acidosis	11.8	F2, DLAT, DLD
9	primary biliary cirrhosis	11.8	DLD, DLAT, F2
10	hepatitis c	11.7	F2, DLAT, DLD
11	tuberculosis	11.2	F2, DLAT, DLD
12	nadh cytochrome b5 reductase deficiency	10.5
13	methemoglobinemia	8.1
14	methemoglobinemia, type ii	8.1

Approved drugs:

Drug clinical trials:

Articles related to lipoamide dehydrogenase deficiency:

id	Title	Authors	Year	Affiliating Genes
1	Biochemical and molecular diagnosis of lipoamide dehydrogenase deficiency in a North American Ashkenazi Jewish family. (16601893)	Sansaricq C.... Raymond K.	2006	DLD
2	Lipoamide dehydrogenase deficiency due to a novel mutation in the interface domain. (10448086)	Shany E.... Elpeleg O.N.	1999	DLD
3	Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews. (9934985)	Shaag A.... Elpeleg O.N.	1999	F2, DLD

Genes related to lipoamide dehydrogenase deficiency according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	DLD	dihydrolipoamide dehydrogenase	11.1	Publications, Summaries
2	DLAT	dihydrolipoamide S-acetyltransferase	11.0	Orthologs
3	F2	coagulation factor II (thrombin)	11.0	Publications

Pathways related to lipoamide dehydrogenase deficiency according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Regulation of pyruvate dehydrogenase (PDH) complex38	9.0	DLAT, DLD
2	Glycolysis / Gluconeogenesis20	9.0	DLAT, DLD
3	Citrate cycle (TCA cycle)20	8.9	DLAT, DLD
4	Pyruvate metabolism20	8.7	DLAT, DLD

Compounds related to lipoamide dehydrogenase deficiency according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	2-oxo acid32	9.3	DLAT, DLD
2	dihydrolipoamide32 18	10.2	DLAT, DLD
3	Pyruvic acid9 18 9	11.2	DLD, DLAT
4	alpha lipoic acid32	9.2	DLAT, DLD
5	alpha-ketoglutarate32	9.1	DLAT, DLD
6	Coenzyme A9 18 9	11.1	DLAT, DLD
7	carbon dioxide32 18	10.0	DLD, DLAT
8	nadh32 9 18 9	12.0	DLD, DLAT
9	acetyl-coa32 18	9.9	DLD, DLAT
10	pyruvate32	8.7	DLD, DLAT

Cellular components related to lipoamide dehydrogenase deficiency according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrial matrix	GO:005759	9.0	DLAT, DLD

Biological processes related to lipoamide dehydrogenase deficiency according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	pyruvate metabolic process	GO:006090	9.0	DLAT, DLD
2	acetyl-CoA biosynthetic process from pyruvate	GO:006086	8.9	DLAT, DLD
3	regulation of acetyl-CoA biosynthetic process from pyruvate	GO:010510	8.7	DLAT, DLD