MCID: LCT017
MIFTS: 19

Lactate Dehydrogenase B Deficiency malady

Genetic diseases, Rare diseases, Metabolic diseases categories

Summaries for Lactate Dehydrogenase B Deficiency

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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 based summary: 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:46 614128

Aliases & Classifications for Lactate Dehydrogenase B Deficiency

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Sources:
42NIH Rare Diseases, 48Orphanet, 61UMLS, 21GeneTests, 23GTR, 46OMIM, 27ICD10 via Orphanet
See all sources

Lactate Dehydrogenase B Deficiency, Aliases & Descriptions:

Name: Lactate Dehydrogenase B Deficiency 42 48 61
Lactate Dehydrogenase Deficiency Type B 42 21 23
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


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 614128
ICD10 via Orphanet27 E74.0

Related Diseases for Lactate Dehydrogenase B Deficiency

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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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Clinical features from OMIM:

614128

Drugs & Therapeutics for Lactate Dehydrogenase B Deficiency

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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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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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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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Variations for Lactate Dehydrogenase B Deficiency

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Clinvar genetic disease variations for Lactate Dehydrogenase B Deficiency:

7
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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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
  • Proteins
  • Kits and Assays

Sources for Lactate Dehydrogenase B Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet