MCID: LCT017
MIFTS: 21

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 45 49 67
Lactate Dehydrogenase Deficiency Type B 45 22 24
 
Ldhbd 45 67
Ldh Deficiency B 45


Classifications:



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Summaries for Lactate Dehydrogenase B Deficiency

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NIH Rare Diseases:45 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, and has symptoms including lactate dehydrogenase b deficiency An important gene associated with Lactate Dehydrogenase B Deficiency is LDHB (Lactate Dehydrogenase B). Affiliated tissues include testes.

UniProtKB/Swiss-Prot:67 Lactate dehydrogenase B deficiency: A condition with no deleterious effects on health. LDHBD is of interest to laboratory medicine mainly because it can cause misdiagnosis in those disorders in which elevation of serum LDH is expected.

Description from OMIM:49 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

Symptoms for Lactate Dehydrogenase B Deficiency

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Clinical features from OMIM:

614128

HPO human phenotypes related to Lactate Dehydrogenase B Deficiency:

id Description Frequency HPO Source Accession
1 lactate dehydrogenase b deficiency HP:0045041

Drugs & Therapeutics for Lactate Dehydrogenase B Deficiency

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Drugs for Lactate Dehydrogenase B Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1pyruvateNutraceuticalPhase 327

Interventional clinical trials:

idNameStatusNCT IDPhase
1Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency:Not yet recruitingNCT02616484Phase 3

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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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UniProtKB/Swiss-Prot genetic disease variations for Lactate Dehydrogenase B Deficiency:

67 (show all 11)
id Symbol AA change Variation ID SNP ID
1LDHBp.Lys7GluVAR_004173
2LDHBp.Ala35GluVAR_004174
3LDHBp.Ser129ArgVAR_004175
4LDHBp.Phe171ValVAR_004176
5LDHBp.Arg172HisVAR_004177
6LDHBp.Met175LeuVAR_004178
7LDHBp.Asp322ValVAR_004179
8LDHBp.Gly69GluVAR_011634
9LDHBp.Arg107TrpVAR_011635
10LDHBp.Arg172ProVAR_011636
11LDHBp.Trp325ArgVAR_011638

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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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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet