MCID: LCT017
MIFTS: 29

Lactate Dehydrogenase B Deficiency malady

Metabolic diseases category

Summaries for Lactate Dehydrogenase B Deficiency

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 testes.

Description from OMIM:46 614128

Aliases & Classifications for Lactate Dehydrogenase B Deficiency

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Sources:
42NIH Rare Diseases, 48Orphanet, 60UMLS, 20GeneTests, 22GTR, 46OMIM, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
lactate dehydrogenase b deficiency:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adulthood


Aliases & Descriptions:

lactate dehydrogenase b deficiency 42 48 60
lactate dehydrogenase deficiency type b 42 20 22
glycogen storage disease due to lactate dehydrogenase h-subunit deficiency 48
glycogenosis due to lactate dehydrogenase h-subunit deficiency 48
gsd due to lactate dehydrogenase h-subunit deficiency 48
lactate dehydrogenase-b deficiency 46
ldh-h subunit deficiency 48


External Ids:

OMIM46 614128
ICD10 via Orphanet26 E74.0

Related Diseases for Lactate Dehydrogenase B Deficiency

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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

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46OMIM
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Clinical features from OMIM:

614128

Drugs & Therapeutics for Lactate Dehydrogenase B Deficiency

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Sources:
5CenterWatch, 41NIH 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

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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

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

32
Testes

Animal Models for Lactate Dehydrogenase B Deficiency or affiliated genes

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Publications for Lactate Dehydrogenase B Deficiency

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Genetic Variations for Lactate Dehydrogenase B Deficiency

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Expression for genes affiliated with Lactate Dehydrogenase B Deficiency

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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

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Sources:
4Cell Signaling Technology, 51QIAGEN, 37NCBI BioSystems Database, 53Reactome, 29KEGG, 12EMD Millipore
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Compounds for genes affiliated with Lactate Dehydrogenase B Deficiency

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Sources:
11DrugBank, 44Novoseek, 28IUPHAR, 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
3pyruvate448.8LDHA, LDHAL6B, LDHB
4l-lactic acid28 249.3LDHAL6A, LDHC, LDHAL6B, LDHB
5Pyruvic acid11 249.2LDHB, LDHAL6B, LDHC, LDHAL6A
6lactate448.2LDHB, LDHAL6B, LDHA, LDHC
7nad28 248.8LDHAL6A, LDHC, LDHA, LDHAL6B, LDHB
8nadh44 11 249.7LDHB, LDHAL6B, LDHA, LDHC, LDHAL6A

GO Terms for genes affiliated with Lactate Dehydrogenase B Deficiency

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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Lactate Dehydrogenase B 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