MCID: LCT004
MIFTS: 20

Lactate Dehydrogenase-B Deficiency malady

Genetic diseases, Rare diseases categories

Summaries for Lactate Dehydrogenase-B Deficiency

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NIH Rare Diseases:43 Lactate dehydrogenase b deficiency (ldhbd) is a condition that affects how the body breaks down sugar to use as energy in muscle cells. unlike people with lactate dehydrogenase a deficiency, people with this condition typically do not have any signs or symptoms. it is unclear why this condition does not cause any health problems. affected people are usually diagnosed when routine blood tests reveal reduced activity of the enzyme lactate dehydrogenase. ldhbd is caused by mutations in the ldhb gene and is inherited in an autosomal recessive manner. last updated: 12/16/2014

MalaCards based summary: Lactate Dehydrogenase-B Deficiency, also known as lactate dehydrogenase deficiency type b, is related to lactate dehydrogenase deficiency and breast cancer. 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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Lactate Dehydrogenase-B Deficiency, Aliases & Descriptions:

Name: Lactate Dehydrogenase-B Deficiency 47 11
Lactate Dehydrogenase Deficiency Type B 43 22 24
Lactate Dehydrogenase B Deficiency 47 43
 
Lactate Dehydrogenase B 11
Ldh Deficiency B 43
Ldhbd 43


Classifications:

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


External Ids:

OMIM47 614128

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
2breast cancer10.3
3lung cancer10.3
4glycogen storage disease due to lactate dehydrogenase h-subunit deficiency10.3
5prostate cancer10.2
6maxillary sinus squamous cell carcinoma10.2
7adenocarcinoma10.2
8prostatitis10.2

Graphical network of diseases related to Lactate Dehydrogenase-B Deficiency:



Diseases related to lactate dehydrogenase-b deficiency

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 Deficiency22 24 LDHB

Anatomical Context for Lactate Dehydrogenase-B Deficiency

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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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Clinvar genetic disease variations for Lactate Dehydrogenase-B Deficiency:

7
id Gene Variation 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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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
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet