MCID: LCT008
MIFTS: 19

Lactate Dehydrogenase Deficiency malady

Summaries for Lactate Dehydrogenase Deficiency

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21Genetics Home Reference, 42NIH Rare Diseases, 32MalaCards
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NIH Rare Diseases:42 Lactate dehydrogenase deficiency is a condition that affects how the body breaks down sugar to use as energy in cells, primarily muscle cells. there are two types of lactate dehydrogenase deficiency: lactate dehydrogenase a deficiency (sometimes called glycogen storage disease xi) and lactate dehydrogenase b deficiency. people with lactate dehydrogenase a deficiency experience fatigue, muscle pain, and cramps during exercise (exercise intolerance). people with lactate dehydrogenase b deficiency typically do not have symptoms. lactate dehydrogenase a deficiency is caused by mutations in the ldha gene. lactate dehydrogenase b deficiency is caused by mutations in the ldhb gene. both types are inherited in an autosomal recessive pattern. last updated: 12/27/2012

MalaCards: Lactate Dehydrogenase Deficiency, also known as lactate dehydrogenase subunit deficiencies, is related to fanconi bickel syndrome and lactate dehydrogenase b deficiency. An important gene associated with Lactate Dehydrogenase Deficiency is LDHB (lactate dehydrogenase B), and among its related pathways are Glycolysis and gluconeogenesis (short map) and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The compounds Oxamic Acid and Nicotinamide-Adenine-Dinucleotide have been mentioned in the context of this disorder.

Genetics Home Reference:21 Lactate dehydrogenase deficiency is a condition that affects how the body breaks down sugar to use as energy in cells, primarily muscle cells.

Aliases & Classifications for Lactate Dehydrogenase Deficiency

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42NIH Rare Diseases, 21Genetics Home Reference, 60UMLS
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Aliases & Descriptions:

lactate dehydrogenase deficiency 42 21
lactate dehydrogenase subunit deficiencies 21
deficiency of l-lactate dehydrogenase 60
deficiency of lactate dehydrogenase 21
ldh deficiency 21


Related Diseases for Lactate Dehydrogenase Deficiency

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

idRelated DiseaseScoreTop Affiliating Genes
1fanconi bickel syndrome10.4
2lactate dehydrogenase b deficiency10.4
3lactate dehydrogenase a deficiency10.3
4lactate dehydrogenase deficiency type c10.3
5complement deficiency10.1
6pneumonia10.1
7myocardial infarction10.0LDHA, LDHB

Graphical network of diseases related to Lactate Dehydrogenase Deficiency:



Diseases related to lactate dehydrogenase deficiency

Clinical Features for Lactate Dehydrogenase Deficiency

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Drugs & Therapeutics for Lactate Dehydrogenase Deficiency

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

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Drug clinical trials:

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Search NIH Clinical Center for Lactate Dehydrogenase Deficiency

Search CenterWatch for Lactate Dehydrogenase Deficiency

Genetic Tests for Lactate Dehydrogenase Deficiency

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Anatomical Context for Lactate Dehydrogenase Deficiency

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Animal Models for Lactate Dehydrogenase Deficiency or affiliated genes

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Publications for Lactate Dehydrogenase Deficiency

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Genetic Variations for Lactate Dehydrogenase Deficiency

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Expression for genes affiliated with Lactate Dehydrogenase Deficiency

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

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Pathways for genes affiliated with Lactate Dehydrogenase Deficiency

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12EMD Millipore, 37NCBI BioSystems Database, 29KEGG, 53Reactome, 51QIAGEN
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Compounds for genes affiliated with Lactate Dehydrogenase Deficiency

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

idCompoundScoreTop Affiliating Genes
1Oxamic Acid119.2LDHB, LDHA
2Nicotinamide-Adenine-Dinucleotide119.2LDHB, LDHA
3pyruvate449.1LDHA, LDHB
4lactate449.1LDHB, LDHA
5nad28 2410.0LDHB, LDHA
6nadh44 11 2410.8LDHB, LDHA

GO Terms for genes affiliated with Lactate Dehydrogenase Deficiency

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16Gene Ontology
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Biological processes related to Lactate Dehydrogenase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cellular carbohydrate metabolic processGO:0442629.1LDHA, LDHB
2cellular metabolic processGO:0442379.1LDHA, LDHB
3pyruvate metabolic processGO:0060909.0LDHA, LDHB
4glycolysisGO:0060968.8LDHA, LDHB

Molecular functions related to Lactate Dehydrogenase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1L-lactate dehydrogenase activityGO:0044599.1LDHA, LDHB

Products for genes affiliated with Lactate Dehydrogenase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Lactate 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