MCID: LCT017
MIFTS: 26

Lactate Dehydrogenase B Deficiency malady

Metabolic category

Summaries for Lactate Dehydrogenase B Deficiency

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Lactate dehydrogenase b deficiency is a condition that affects how the body breaks down sugar to use as energy in muscle cells. people with this condition typically do not have any signs or symptoms of the condition. they do not have difficulty with physical activity or any specific physical features related to the condition. affected individuals are usually discovered only when routine blood tests reveal reduced lactate dehydrogenase activity. lactate dehydrogenase b deficiency is caused by mutations in the ldhb gene. this condition is inherited in an autosomal recessive pattern. last updated: 12/27/2012

MalaCards: Lactate Dehydrogenase B Deficiency, also known as lactate dehydrogenase deficiency type b, is related to lactate dehydrogenase deficiency and myocardial infarction. An important gene associated with Lactate Dehydrogenase B Deficiency is LDHB (lactate dehydrogenase B), and among its related pathways are Glucose / Energy Metabolism and Metabolic States and Circadian Oscillators. The compounds Oxamic Acid and Nicotinamide-Adenine-Dinucleotide have been mentioned in the context of this disorder. Affiliated tissues include b cells.

Description from OMIM:47 614128

Aliases & Classifications for Lactate Dehydrogenase B Deficiency

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Metabolic


Characteristics (Orphanet epidemiological data):

49
lactate dehydrogenase b deficiency:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adulthood


Aliases & Descriptions:

lactate dehydrogenase b deficiency 43 49 61
lactate dehydrogenase deficiency type b 43 20 22
glycogen storage disease due to lactate dehydrogenase h-subunit deficiency 49
glycogenosis due to lactate dehydrogenase h-subunit deficiency 49
gsd due to lactate dehydrogenase h-subunit deficiency 49
lactate dehydrogenase-b deficiency 47
ldh-h subunit deficiency 49


External Ids:

OMIM47 614128
ICD10 via Orphanet26 E74.0

Related Diseases for Lactate Dehydrogenase B Deficiency

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

idRelated DiseaseScoreTop Affiliating Genes
1lactate dehydrogenase deficiency10.5
2myocardial infarction10.0LDHAL6A, LDHC, LDHA, LDHAL6B, LDHB

Clinical Features for Lactate Dehydrogenase B Deficiency

Sources:
47OMIM
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Clinical features from OMIM:

614128

Drugs & Therapeutics for Lactate Dehydrogenase B Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Lactate Dehydrogenase B Deficiency

Drug clinical trials:

Search ClinicalTrials for Lactate Dehydrogenase B Deficiency

Search NIH Clinical Center for Lactate Dehydrogenase B Deficiency

Search CenterWatch for Lactate Dehydrogenase B Deficiency

Genetic Tests for Lactate Dehydrogenase B Deficiency

Sources:
20GeneTests, 22GTR
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Genetic tests related to Lactate Dehydrogenase B Deficiency:

id Genetic test Affiliating Genes
1 Lactate Dehydrogenase B Deficiency20 22 LDHB

Anatomical Context for Lactate Dehydrogenase B Deficiency

Sources:
33MalaCards
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MalaCards organs/tissues related to Lactate Dehydrogenase B Deficiency:

33
B cells

Animal Models for Lactate Dehydrogenase B Deficiency or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Lactate Dehydrogenase B Deficiency

Sources:
51PubMed
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Articles related to Lactate Dehydrogenase B Deficiency:

idTitleAuthorsYear
1
Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-SchAPnberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders. (20499337)
2010

Genetic Variations for Lactate Dehydrogenase B Deficiency

Expression for genes affiliated with Lactate Dehydrogenase B Deficiency

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

Search GEO for disease gene expression data for Lactate Dehydrogenase B Deficiency.

Pathways for genes affiliated with Lactate Dehydrogenase B Deficiency

Sources:
4Cell Signaling Technology, 52QIAGEN, 38NCBI BioSystems Database, 54Reactome, 30KEGG, 12EMD Millipore
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Compounds for genes affiliated with Lactate Dehydrogenase B Deficiency

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

idCompoundScoreTop Affiliating Genes
1Oxamic Acid119.6LDHA, LDHB
2Nicotinamide-Adenine-Dinucleotide119.6LDHA, LDHB
3pyruvate458.8LDHA, LDHAL6B, LDHB
4l-lactic acid29 249.3LDHAL6A, LDHC, LDHAL6B, LDHB
5Pyruvic acid11 249.2LDHB, LDHAL6B, LDHC, LDHAL6A
6lactate458.2LDHB, LDHAL6B, LDHA, LDHC
7nad29 248.8LDHAL6A, LDHC, LDHA, LDHAL6B, LDHB
8nadh45 11 249.7LDHB, LDHAL6B, LDHA, LDHC, LDHAL6A

GO Terms for genes affiliated with Lactate Dehydrogenase B Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1cellular metabolic processGO:0442379.6LDHA, LDHB
2pyruvate metabolic processGO:0060909.3LDHA, LDHB
3glycolysisGO:0060967.5LDHB, LDHAL6B, LDHA, LDHC, LDHAL6A
4cellular carbohydrate metabolic processGO:0442627.1LDHAL6A, LDHC, LDHA, LDHAL6B, LDHB, UEVLD

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

idNameGO IDScoreTop Affiliating Genes
1L-lactate dehydrogenase activityGO:0044597.6LDHAL6A, LDHC, LDHA, LDHAL6B, LDHB

Products for genes affiliated with Lactate Dehydrogenase B Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Lactate Dehydrogenase B 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