MCID: LCT017
MIFTS: 24

Lactate Dehydrogenase B Deficiency malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Lactate Dehydrogenase B Deficiency

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Aliases & Descriptions for Lactate Dehydrogenase B Deficiency:

Name: Lactate Dehydrogenase B Deficiency 52 48 24 54 70 68
Lactate Dehydrogenase Deficiency Type B 48 27
Ldhbd 48 70
Glycogen Storage Disease Due to Lactate Dehydrogenase H-Subunit Deficiency 54
Glycogenosis Due to Lactate Dehydrogenase H-Subunit Deficiency 54
 
Gsd Due to Lactate Dehydrogenase H-Subunit Deficiency 54
Lactate Dehydrogenase-B Deficiency 12
Ldh-H Subunit Deficiency 54
Lactate Dehydrogenase B 12
Ldh Deficiency B 48

Characteristics:

Orphanet epidemiological data:

54
lactate dehydrogenase b deficiency:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adult

Classifications:



External Ids:

OMIM52 614128
Orphanet54 ORPHA284435
ICD10 via Orphanet31 E74.0

Summaries for Lactate Dehydrogenase B Deficiency

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NIH Rare Diseases:48 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 lung cancer and breast cancer, 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:70 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:52 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
1lung cancer9.8
2breast cancer9.8
3prostate cancer9.7
4oral squamous cell carcinoma9.7
5prostatitis9.7
6adenocarcinoma9.7
7bladder urothelial carcinoma9.7
8maxillary sinus squamous cell carcinoma9.7
9lactate dehydrogenase deficiency9.7

Graphical network of diseases related to Lactate Dehydrogenase B Deficiency:



Diseases related to lactate dehydrogenase b deficiency

Symptoms & Phenotypes for Lactate Dehydrogenase B Deficiency

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Clinical features from OMIM:

614128

Human phenotypes related to Lactate Dehydrogenase B Deficiency:

 64
id Description HPO Frequency HPO Source Accession
1 lactate dehydrogenase b deficiency64 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
1Pyruvateapproved, NutraceuticalPhase 338

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 Deficiency27 24 LDHB

Anatomical Context for Lactate Dehydrogenase B Deficiency

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MalaCards organs/tissues related to Lactate Dehydrogenase B Deficiency:

36
Testes

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:

70 (show all 11)
id Symbol AA change Variation ID SNP ID
1LDHBp.Lys7GluVAR_004173rs118203897
2LDHBp.Ala35GluVAR_004174
3LDHBp.Ser129ArgVAR_004175rs118203896
4LDHBp.Phe171ValVAR_004176
5LDHBp.Arg172HisVAR_004177rs118203895
6LDHBp.Met175LeuVAR_004178
7LDHBp.Asp322ValVAR_004179
8LDHBp.Gly69GluVAR_011634
9LDHBp.Arg107TrpVAR_011635rs777954556
10LDHBp.Arg172ProVAR_011636
11LDHBp.Trp325ArgVAR_011638rs267607212

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet