MCID: LCT017
MIFTS: 19

Lactate Dehydrogenase B Deficiency malady

Genetic diseases, Rare diseases categories
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Summaries for Lactate Dehydrogenase B Deficiency

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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. An important gene associated with Lactate Dehydrogenase B Deficiency is LDHB (lactate dehydrogenase B). Affiliated tissues include testes.

Description from OMIM:47 614128

Aliases & Classifications for Lactate Dehydrogenase B Deficiency

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43NIH Rare Diseases, 49Orphanet, 62UMLS, 20GeneTests, 22GTR, 47OMIM, 26ICD10 via Orphanet
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Classifications:

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


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 62
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

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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

Symptoms for Lactate Dehydrogenase B Deficiency

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47OMIM
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Clinical features from OMIM:

614128

Drugs & Therapeutics for Lactate Dehydrogenase B Deficiency

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Lactate Dehydrogenase B Deficiency

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Lactate Dehydrogenase B Deficiency:

33
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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Variations for Lactate Dehydrogenase B Deficiency

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

1
id Gene Name Type Significance SNP ID Assembly Location
1LDHBNM_002300.6(LDHB): c.515G> A (p.Arg172His)single nucleotide variantPathogenicrs118203895GRCh37Chr 12, 21794966: 21794966
2LDHBNM_002300.6(LDHB): c.385A> C (p.Ser129Arg)single nucleotide variantPathogenicrs118203896GRCh37Chr 12, 21796905: 21796905
3LDHBNM_002300.6(LDHB): c.19A> G (p.Lys7Glu)single nucleotide variantPathogenicrs118203897GRCh37Chr 12, 21807587: 21807587
4LDHBNM_002300.6(LDHB): c.973T> C (p.Trp325Arg)single nucleotide variantPathogenicrs267607212GRCh37Chr 12, 21788508: 21788508

Expression for genes affiliated with Lactate Dehydrogenase B Deficiency

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2BioGPS, 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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Compounds for genes affiliated with Lactate Dehydrogenase B Deficiency

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GO Terms for genes affiliated with Lactate Dehydrogenase B Deficiency

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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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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet