MCID: LCT017
MIFTS: 19

Lactate Dehydrogenase B Deficiency malady

Genetic diseases, Rare diseases categories

Summaries for Lactate Dehydrogenase B Deficiency

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Sources:
44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 Lactate dehydrogenase b deficiency is a condition that affects how the body breaks down sugar to use as energy in muscle cells. people withĀ this conditionĀ 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:48 614128

Aliases & Classifications for Lactate Dehydrogenase B Deficiency

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Sources:
44NIH Rare Diseases, 50Orphanet, 63UMLS, 21GeneTests, 23GTR, 48OMIM, 27ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
lactate dehydrogenase b deficiency:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adulthood


Aliases & Descriptions:

lactate dehydrogenase b deficiency 44 50 63
lactate dehydrogenase deficiency type b 44 21 23
glycogen storage disease due to lactate dehydrogenase h-subunit deficiency 50
glycogenosis due to lactate dehydrogenase h-subunit deficiency 50
gsd due to lactate dehydrogenase h-subunit deficiency 50
lactate dehydrogenase-b deficiency 48
ldh-h subunit deficiency 50


External Ids:

OMIM48 614128
ICD10 via Orphanet27 E74.0

Related Diseases for Lactate Dehydrogenase B Deficiency

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18GeneCards, 19GeneDecks
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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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Sources:
48OMIM
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Clinical features from OMIM:

614128

Drugs & Therapeutics for Lactate Dehydrogenase B Deficiency

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

Search CenterWatch for Lactate Dehydrogenase B Deficiency

Drug clinical trials:

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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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21GeneTests, 23GTR
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Genetic tests related to Lactate Dehydrogenase B Deficiency:

id Genetic test Affiliating Genes
1 Lactate Dehydrogenase B Deficiency21 23 LDHB

Anatomical Context for Lactate Dehydrogenase B Deficiency

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

34
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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Sources:
2BioGPS, 16Gene 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
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