MCID: LCT007
MIFTS: 16

Lactate Dehydrogenase a Deficiency malady

Summaries for Lactate Dehydrogenase a Deficiency

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42NIH Rare Diseases, 32MalaCards
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NIH Rare Diseases:42 Lactate dehydrogenase a deficiency is a condition that affects how the body breaks down sugar to use as energy in muscle cells. people with this condition experience fatigue, muscle pain, and cramps during exercise (exercise intolerance). in some people, high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue (rhabdomyolysis), which can lead to myoglobinuria (rust-colored urine indicating breakdown of muscle tissue) and kidney damage. a skin rash may also develop. the severity of the signs and symptoms varies greatly among affected individuals. lactate dehydrogenase a deficiency is caused by mutations in the ldha gene. this condition is inherited in an autosomal recessive pattern. last updated: 12/27/2012

MalaCards: Lactate Dehydrogenase a Deficiency, also known as lactate dehydrogenase deficiency type a, is related to lactate dehydrogenase deficiency and fanconi bickel syndrome. An important gene associated with Lactate Dehydrogenase a Deficiency is GPD1 (glycerol-3-phosphate dehydrogenase 1 (soluble)), and among its related pathways is Metabolism. The compounds glyceraldehyde 3-phosphate and pyruvate have been mentioned in the context of this disorder. Affiliated tissues include kidney and skin.

Aliases & Classifications for Lactate Dehydrogenase a Deficiency

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42NIH Rare Diseases, 60UMLS
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Aliases & Descriptions:

lactate dehydrogenase a deficiency 42
lactate dehydrogenase deficiency type a 42 60
glycogen storage disease xi 42


Related Diseases for Lactate Dehydrogenase a Deficiency

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

idRelated DiseaseScoreTop Affiliating Genes
1lactate dehydrogenase deficiency10.4
2fanconi bickel syndrome10.2
3obesity10.0GPD1

Clinical Features for Lactate Dehydrogenase a Deficiency

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Drugs & Therapeutics for Lactate Dehydrogenase a 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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Genetic Tests for Lactate Dehydrogenase a Deficiency

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Anatomical Context for Lactate Dehydrogenase a Deficiency

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32MalaCards
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MalaCards organs/tissues related to Lactate Dehydrogenase a Deficiency:

32
Kidney, Skin

Animal Models for Lactate Dehydrogenase a Deficiency or affiliated genes

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Publications for Lactate Dehydrogenase a Deficiency

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Genetic Variations for Lactate Dehydrogenase a Deficiency

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Expression for genes affiliated with Lactate Dehydrogenase a 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 a Deficiency

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Pathways for genes affiliated with Lactate Dehydrogenase a Deficiency

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53Reactome, 29KEGG
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Pathways related to Lactate Dehydrogenase a Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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9.1LDHA, GPD1

Compounds for genes affiliated with Lactate Dehydrogenase a Deficiency

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

idCompoundScoreTop Affiliating Genes
1glyceraldehyde 3-phosphate449.3LDHA, GPD1
2pyruvate449.3LDHA, GPD1
3nad28 2410.2LDHA, GPD1
4nadh44 11 2411.2LDHA, GPD1
5nadph44 2410.1GPD1, LDHA
6glucose449.1LDHA, GPD1
7lactate449.0LDHA, GPD1
8nitric oxide44 11 2410.8LDHA, GPD1

GO Terms for genes affiliated with Lactate Dehydrogenase a Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:0057399.1LDHA, GPD1

Products for genes affiliated with Lactate Dehydrogenase a Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Lactate Dehydrogenase a 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