MCID: LCT004
MIFTS: 18

Lactate Dehydrogenase-B Deficiency malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Lactate Dehydrogenase-B Deficiency

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Aliases & Descriptions for Lactate Dehydrogenase-B Deficiency:

Name: Lactate Dehydrogenase-B Deficiency 46 9
Lactate Dehydrogenase Deficiency Type B 42 20 22
Lactate Dehydrogenase B Deficiency 46 42 61
 
Lactate Dehydrogenase B 9
Ldh Deficiency B 42
Ldhbd 42


Classifications:



External Ids:

OMIM46 614128

Summaries for Lactate Dehydrogenase-B Deficiency

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NIH Rare Diseases:42 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 glycogen storage disease due to lactate dehydrogenase h-subunit deficiency. An important gene associated with Lactate Dehydrogenase-B Deficiency is LDHB (lactate dehydrogenase B). Affiliated tissues include testes.

Description from OMIM:46 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 Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1lactate dehydrogenase deficiency10.5
2glycogen storage disease due to lactate dehydrogenase h-subunit deficiency10.4
3breast cancer10.3
4lung cancer10.3
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 Deficiency20 22 LDHB

Anatomical Context for Lactate Dehydrogenase-B Deficiency

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

31
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:

5
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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Sources for Lactate Dehydrogenase-B Deficiency

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet