MCID: LPM006
MIFTS: 23

Lipoamide Dehydrogenase Deficiency malady

Summaries for Lipoamide Dehydrogenase Deficiency

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33MalaCards
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MalaCards: Lipoamide Dehydrogenase Deficiency, also known as nadh cytochrome b5 reductase deficiency, is related to nadh cytochrome b5 reductase deficiency and methemoglobinemia. 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. Affiliated tissues include liver.

Aliases & Classifications for Lipoamide Dehydrogenase Deficiency

Sources:
61UMLS, 43NIH Rare Diseases
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Aliases & Descriptions:

lipoamide dehydrogenase deficiency 43
nadh cytochrome b5 reductase deficiency 61


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 19)
idRelated DiseaseScoreTop Affiliating Genes
1nadh cytochrome b5 reductase deficiency10.7
2methemoglobinemia10.6
3methemoglobinemia, type i10.6
4congenital methemoglobinemia10.5
5pregnancy loss10.5
6hepatitis d10.3
7hepatitis a10.3
8myoglobinuria recurrent10.3
9lacticacidemia due to pdx1 deficiency10.3
10lip disease10.3
11lactic acidosis10.0DLD
12metabolic acidosis10.0DLD
13hepatitis c10.0F2
14pyruvate decarboxylase deficiency10.0DLAT
15primary biliary cirrhosis10.0DLAT
16protein s deficiency10.0F2
17cholangitis10.0DLAT
18autoimmune hepatitis10.0DLAT, F2
19galactosemia10.0DLAT, F2

Graphical network of diseases related to Lipoamide Dehydrogenase Deficiency:



Diseases related to lipoamide dehydrogenase deficiency

Clinical Features for Lipoamide Dehydrogenase Deficiency

Drugs & Therapeutics for Lipoamide Dehydrogenase Deficiency

Sources:
5CenterWatch, 42NIH 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

Anatomical Context for Lipoamide Dehydrogenase Deficiency

Sources:
33MalaCards
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MalaCards organs/tissues related to Lipoamide Dehydrogenase Deficiency:

33
Liver

Animal Models for Lipoamide Dehydrogenase Deficiency or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Lipoamide Dehydrogenase Deficiency

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51PubMed
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Articles related to Lipoamide Dehydrogenase Deficiency:

(show all 13)
idTitleAuthorsYear
1
Biochemical and molecular diagnosis of lipoamide dehydrogenase deficiency in a North American Ashkenazi Jewish family. (16601893)
2006
2
ATP synthesis in lipoamide dehydrogenase deficiency. (10708561)
2000
3
Lipoamide dehydrogenase deficiency due to a novel mutation in the interface domain. (10448086)
1999
4
Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews. (9934985)
1999
5
Lipoamide dehydrogenase deficiency: a newly discovered cause of acute hepatitis in adults. (9764998)
1998
6
Liver disease in the Ashkenazi-Jewish lipoamide dehydrogenase deficiency. (9161958)
1997
7
Lipoamide dehydrogenase deficiency in Ashkenazi Jews: an insertion mutation in the mitochondrial leader sequence. (9298831)
1997
8
Lipoamide dehydrogenase deficiency: a new cause for recurrent myoglobinuria. (9040667)
1997
9
Leigh disease with deficiency of lipoamide dehydrogenase: treatment failure with dichloroacetate. (8652022)
1996
10
Congenital lacticacidemia caused by lipoamide dehydrogenase deficiency with favorable outcome. (7815230)
1995
11
Pyruvate dehydrogenase subcomplex with lipoamide dehydrogenase deficiency in a patient with lactic acidosis and branched chain ketoaciduria. (6430599)
1984
12
Lipoamide dehydrogenase deficiency with primary lactic acidosis: favorable response to treatment with oral lipoic acid. (6418873)
1984
13
Lipoamide dehydrogenase deficiency. (6893619)
1981

Genetic Variations for Lipoamide Dehydrogenase Deficiency

Expression for genes affiliated with Lipoamide Dehydrogenase Deficiency

Sources:
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

Sources:
30KEGG, 54Reactome, 12EMD Millipore, 38NCBI BioSystems Database
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Compounds for genes affiliated with Lipoamide Dehydrogenase Deficiency

Sources:
45Novoseek, 24HMDB, 11DrugBank, 29IUPHAR
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Compounds related to Lipoamide Dehydrogenase Deficiency according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1lactate459.3DLD, F2
22-oxo acid459.3DLD, DLAT
3dihydrolipoamide45 2410.3DLD, DLAT
4Pyruvic acid11 2410.3DLD, DLAT
5alpha lipoic acid459.2DLD, DLAT
6alpha-ketoglutarate459.2DLD, DLAT
7Coenzyme A11 2410.2DLAT, DLD
8carbon dioxide45 2410.1DLD, DLAT
9acetyl-coa45 2410.1DLD, DLAT
10pyruvate459.0DLD, DLAT
11nad29 249.9DLD, DLAT
12nadh45 11 2410.7DLD, DLAT

GO Terms for genes affiliated with Lipoamide Dehydrogenase Deficiency

Sources:
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:0105109.1DLD, DLAT
3pyruvate metabolic processGO:0060909.0DLAT, DLD
4tricarboxylic acid cycleGO:0060998.9DLAT, DLD
5cellular metabolic processGO:0442378.7DLAT, DLD

Products for genes affiliated with Lipoamide Dehydrogenase Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Lipoamide Dehydrogenase Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet