MCID: LCT007
MIFTS: 13

Lactate Dehydrogenase a Deficiency malady

Rare diseases category

Summaries for Lactate Dehydrogenase a Deficiency

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44NIH Rare Diseases, 34MalaCards
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NIH Rare Diseases:44 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 LDHA (lactate dehydrogenase A). Affiliated tissues include skin and kidney.

Aliases & Classifications for Lactate Dehydrogenase a Deficiency

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44NIH Rare Diseases, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Aliases & Descriptions:

lactate dehydrogenase a deficiency 44
lactate dehydrogenase deficiency type a 44 63
glycogen storage disease xi 44


Related Diseases for Lactate Dehydrogenase a Deficiency

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18GeneCards, 19GeneDecks
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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 deficiency10.5
2fanconi bickel syndrome10.2

Symptoms for Lactate Dehydrogenase a Deficiency

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Drugs & Therapeutics for Lactate Dehydrogenase a Deficiency

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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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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34MalaCards
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MalaCards organs/tissues related to Lactate Dehydrogenase a Deficiency:

34
Skin, Kidney

Animal Models for Lactate Dehydrogenase a Deficiency or affiliated genes

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Publications for Lactate Dehydrogenase a Deficiency

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53PubMed
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Articles related to Lactate Dehydrogenase a Deficiency:

idTitleAuthorsYear
1
Characterization of the oxidative metabolism in lactate dehydrogenase A deficiency. (7549132)
1995
2
Characterization of the glycolysis in lactate dehydrogenase-A deficiency. (7630349)
1995
3
Molecular characterization of gene expression in human lactate dehydrogenase-A deficiency. (8327147)
1993

Variations for Lactate Dehydrogenase a Deficiency

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Lactate Dehydrogenase a Deficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1LDHANM_005566.3(LDHA): c.985G> T (p.Glu329Ter)single nucleotide variantPathogenicrs121912479GRCh37Chr 11, 18428814: 18428814

Expression for genes affiliated with Lactate Dehydrogenase a Deficiency

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2BioGPS, 16Gene 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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Compounds for genes affiliated with Lactate Dehydrogenase a Deficiency

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GO Terms for genes affiliated with Lactate Dehydrogenase a Deficiency

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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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet