MCID: LPM006
MIFTS: 18

Lipoamide Dehydrogenase Deficiency malady

Summaries for Lipoamide Dehydrogenase Deficiency

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32MalaCards
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MalaCards: Lipoamide Dehydrogenase Deficiency, also known as nadh cytochrome b5 reductase deficiency, is related to lactic acidosis and nadh cytochrome b5 reductase deficiency. An important gene associated with Lipoamide Dehydrogenase Deficiency is DLD (dihydrolipoamide dehydrogenase), and among its related pathways are Carbon metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The compounds lactate and 2-oxo acid have been mentioned in the context of this disorder.

Aliases & Classifications for Lipoamide Dehydrogenase Deficiency

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60UMLS, 42NIH Rare Diseases
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Aliases & Descriptions:

lipoamide dehydrogenase deficiency 42
nadh cytochrome b5 reductase deficiency 60


Related Diseases for Lipoamide Dehydrogenase Deficiency

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17GeneCards, 18GeneDecks
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Diseases related to Lipoamide Dehydrogenase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 17)
idRelated DiseaseScoreTop Affiliating Genes
1lactic acidosis30.5DLD
2nadh cytochrome b5 reductase deficiency10.7
3methemoglobinemia10.6
4methemoglobinemia, type i10.6
5congenital methemoglobinemia10.5
6hepatitis a10.2
7hepatitis10.2
8liver disease10.2
9lacticacidemia due to pdx1 deficiency10.2
10metabolic acidosis10.0DLD
11hepatitis c10.0F2
12pyruvate decarboxylase deficiency10.0DLAT
13primary biliary cirrhosis10.0DLAT
14protein s deficiency10.0F2
15cholangitis10.0DLAT
16autoimmune hepatitis10.0DLAT, F2
17galactosemia10.0DLAT, F2

Graphical network of diseases related to Lipoamide Dehydrogenase Deficiency:



Diseases related to lipoamide dehydrogenase deficiency

Clinical Features for Lipoamide Dehydrogenase Deficiency

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Drugs & Therapeutics for Lipoamide Dehydrogenase Deficiency

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Lipoamide Dehydrogenase Deficiency

Drug clinical trials:

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Search NIH Clinical Center for Lipoamide Dehydrogenase Deficiency

Search CenterWatch for Lipoamide Dehydrogenase Deficiency

Genetic Tests for Lipoamide Dehydrogenase Deficiency

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Anatomical Context for Lipoamide Dehydrogenase Deficiency

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Animal Models for Lipoamide Dehydrogenase Deficiency or affiliated genes

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Publications for Lipoamide Dehydrogenase Deficiency

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Genetic Variations for Lipoamide Dehydrogenase Deficiency

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Expression for genes affiliated with Lipoamide Dehydrogenase Deficiency

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Lipoamide Dehydrogenase Deficiency

Search GEO for disease gene expression data for Lipoamide Dehydrogenase Deficiency.

Pathways for genes affiliated with Lipoamide Dehydrogenase Deficiency

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29KEGG, 53Reactome, 12EMD Millipore, 37NCBI BioSystems Database
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Compounds for genes affiliated with Lipoamide Dehydrogenase Deficiency

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44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR
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Compounds related to Lipoamide Dehydrogenase Deficiency according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1lactate449.3F2, DLD
22-oxo acid449.3DLAT, DLD
3dihydrolipoamide44 2410.3DLAT, DLD
4Pyruvic acid11 2410.3DLAT, DLD
5alpha lipoic acid449.2DLD, DLAT
6alpha-ketoglutarate449.2DLAT, DLD
7Coenzyme A11 2410.2DLAT, DLD
8carbon dioxide44 2410.1DLD, DLAT
9acetyl-coa44 2410.1DLAT, DLD
10pyruvate449.0DLAT, DLD
11nad28 249.9DLD, DLAT
12nadh44 11 2410.7DLAT, DLD

GO Terms for genes affiliated with Lipoamide Dehydrogenase Deficiency

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16Gene Ontology
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Cellular components related to Lipoamide Dehydrogenase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:0057599.0DLAT, DLD

Biological processes related to Lipoamide Dehydrogenase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1proteolysisGO:0065089.3F2, DLD
2regulation of acetyl-CoA biosynthetic process from pyruvateGO:0105109.1DLAT, DLD
3pyruvate metabolic processGO:0060909.0DLAT, DLD
4tricarboxylic acid cycleGO:0060998.9DLD, DLAT
5cellular metabolic processGO:0442378.7DLAT, DLD

Products for genes affiliated with Lipoamide Dehydrogenase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Lipoamide Dehydrogenase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet