MCID: LCT017
MIFTS: 25

Lactate Dehydrogenase B Deficiency

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Lactate Dehydrogenase B Deficiency

MalaCards integrated aliases for Lactate Dehydrogenase B Deficiency:

Name: Lactate Dehydrogenase B Deficiency 57 53 59 75 29 6 40 73
Ldhbd 57 53 75
Lactate Dehydrogenase-B Deficiency 57 13
Glycogen Storage Disease Due to Lactate Dehydrogenase H-Subunit Deficiency 59
Glycogenosis Due to Lactate Dehydrogenase H-Subunit Deficiency 59
Gsd Due to Lactate Dehydrogenase H-Subunit Deficiency 59
Lactate Dehydrogenase Deficiency Type B 53
Ldh-H Subunit Deficiency 59
Lactate Dehydrogenase B 13
Ldh Deficiency B 53

Characteristics:

Orphanet epidemiological data:

59
glycogen storage disease due to lactate dehydrogenase h-subunit deficiency
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adult;

Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 614128
Orphanet 59 ORPHA284435
UMLS via Orphanet 74 C3279904
ICD10 via Orphanet 34 E74.0
UMLS 73 C3279904

Summaries for Lactate Dehydrogenase B Deficiency

NIH Rare Diseases : 53 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.

MalaCards based summary : Lactate Dehydrogenase B Deficiency, also known as ldhbd, is related to lactate dehydrogenase deficiency. An important gene associated with Lactate Dehydrogenase B Deficiency is LDHB (Lactate Dehydrogenase B). Affiliated tissues include testes, lung and testis, and related phenotype is reduced lactate dehydrogenase b level.

UniProtKB/Swiss-Prot : 75 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: 614128

Related Diseases for Lactate Dehydrogenase B Deficiency

Diseases related to Lactate Dehydrogenase B Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 lactate dehydrogenase deficiency 11.4

Symptoms & Phenotypes for Lactate Dehydrogenase B Deficiency

Clinical features from OMIM:

614128

Human phenotypes related to Lactate Dehydrogenase B Deficiency:

32
# Description HPO Frequency HPO Source Accession
1 reduced lactate dehydrogenase b level 32 HP:0045041

Drugs & Therapeutics for Lactate Dehydrogenase B Deficiency

Search Clinical Trials , NIH Clinical Center for Lactate Dehydrogenase B Deficiency

Genetic Tests for Lactate Dehydrogenase B Deficiency

Genetic tests related to Lactate Dehydrogenase B Deficiency:

# Genetic test Affiliating Genes
1 Lactate Dehydrogenase B Deficiency 29 LDHB

Anatomical Context for Lactate Dehydrogenase B Deficiency

MalaCards organs/tissues related to Lactate Dehydrogenase B Deficiency:

41
Testes, Lung, Testis, Prostate, Heart

Publications for Lactate Dehydrogenase B Deficiency

Articles related to Lactate Dehydrogenase B Deficiency:

(show all 28)
# Title Authors Year
1
Lactate Dehydrogenase B Controls Lysosome Activity and Autophagy in Cancer. ( 27622334 )
2016
2
Inhibition of stress mediated cell death by human lactate dehydrogenase B in yeast. ( 26032856 )
2015
3
Lactate dehydrogenase B is associated with the response to neoadjuvant chemotherapy in oral squamous cell carcinoma. ( 25973606 )
2015
4
Lactate dehydrogenase B is required for the growth of KRAS-dependent lung adenocarcinomas. ( 23224736 )
2013
5
Lactate dehydrogenase-B is silenced by promoter methylation in a high frequency of human breast cancers. ( 23437403 )
2013
6
Lactate dehydrogenase B: a metabolic marker of response to neoadjuvant chemotherapy in breast cancer. ( 23697991 )
2013
7
Tumor suppressive microRNA-375 regulates lactate dehydrogenase B in maxillary sinus squamous cell carcinoma. ( 21922130 )
2012
8
Lactate dehydrogenase B is critical for hyperactive mTOR-mediated tumorigenesis. ( 21199794 )
2011
9
Decreased lactate dehydrogenase B expression enhances claudin 1-mediated hepatoma cell invasiveness via mitochondrial defects. ( 21356207 )
2011
10
Loss of lactate dehydrogenase B subunit expression is correlated with tumour progression and independently predicts inferior disease-specific survival in urinary bladder urothelial carcinoma. ( 22027740 )
2011
11
A novel hypoxia-response element in the lactate dehydrogenase-B gene of the killifish Fundulus heteroclitus. ( 19439190 )
2009
12
Comparative characterization of a temperature responsive gene (lactate dehydrogenase-B, ldh-b) in two congeneric tropical fish, Lates calcarifer and Lates niloticus. ( 19787021 )
2009
13
[Identification and clinical evaluation of lung cancer serum biomarker L-lactate dehydrogenase B]. ( 17988549 )
2007
14
Lactate dehydrogenase-B is silenced by promoter hypermethylation in human prostate cancer. ( 16547507 )
2006
15
Elevation of serum l-lactate dehydrogenase B correlated with the clinical stage of lung cancer. ( 16890323 )
2006
16
A novel missense mutation in human lactate dehydrogenase b-subunit gene. ( 11509017 )
2001
17
Genetic analyses in homozygous and heterozygous variants of lactate dehydrogenase-B (H) subunit--LD-B Matsumoto I and II (LD-B W323R). ( 10509905 )
1999
18
Population screening of lactate dehydrogenase deficiencies in Fukuoka Prefecture in Japan and molecular characterization of three independent mutations in the lactate dehydrogenase-B(H) gene. ( 8270259 )
1994
19
Analysis of a genetic mutation in an electrophoretic variant of the human lactate dehydrogenase-B(H) subunit. ( 8314553 )
1993
20
Detection and characterization of new genetic mutations in individuals heterozygous for lactate dehydrogenase-B(H) deficiency using DNA conformation polymorphism analysis and silver staining. ( 8462975 )
1993
21
Human centrosomal epitope is shared specifically with human lactate dehydrogenase-B isozyme. ( 1371976 )
1992
22
A missense mutation found in human lactate dehydrogenase-B (H) variant gene. ( 2334429 )
1990
23
Human lactate dehydrogenase-B processed pseudogene: nucleotide sequence analysis and assignment to the X-chromosome. ( 2393406 )
1990
24
The cDNA and protein sequences of mouse lactate dehydrogenase B. Molecular evolution of vertebrate lactate dehydrogenase genes A (muscle), B (heart) and C (testis). ( 2338075 )
1990
25
Structure of the human lactate dehydrogenase B gene. ( 2930497 )
1989
26
The cDNA and protein sequences of human lactate dehydrogenase B. ( 3435492 )
1987
27
Genetic variation and relative catalytic efficiencies: lactate dehydrogenase B allozymes of Fundulus heteroclitus. ( 36616 )
1979
28
Assignment of the genes for malate oxidoreductase decarboxylating to chromosome 6 and peptidase B and lactate dehydrogenase B to chromosome 12 in man. ( 4689040 )
1973

Variations for Lactate Dehydrogenase B Deficiency

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

75 (show all 11)
# Symbol AA change Variation ID SNP ID
1 LDHB p.Lys7Glu VAR_004173 rs118203897
2 LDHB p.Ala35Glu VAR_004174
3 LDHB p.Ser129Arg VAR_004175 rs118203896
4 LDHB p.Phe171Val VAR_004176
5 LDHB p.Arg172His VAR_004177 rs118203895
6 LDHB p.Met175Leu VAR_004178
7 LDHB p.Asp322Val VAR_004179
8 LDHB p.Gly69Glu VAR_011634
9 LDHB p.Arg107Trp VAR_011635 rs777954556
10 LDHB p.Arg172Pro VAR_011636
11 LDHB p.Trp325Arg VAR_011638 rs267607212

ClinVar genetic disease variations for Lactate Dehydrogenase B Deficiency:

6
(show all 36)
# Gene Variation Type Significance SNP ID Assembly Location
1 LDHB NM_002300.7(LDHB): c.713+15A> G single nucleotide variant Benign rs1650289 GRCh37 Chromosome 12, 21791272: 21791272
2 LDHB NM_002300.7(LDHB): c.713+15A> G single nucleotide variant Benign rs1650289 GRCh38 Chromosome 12, 21638338: 21638338
3 LDHB NM_002300.7(LDHB): c.621G> T (p.Val207=) single nucleotide variant Uncertain significance rs147896432 GRCh37 Chromosome 12, 21791379: 21791379
4 LDHB NM_002300.7(LDHB): c.621G> T (p.Val207=) single nucleotide variant Uncertain significance rs147896432 GRCh38 Chromosome 12, 21638445: 21638445
5 LDHB NM_002300.7(LDHB): c.-81G> C single nucleotide variant Likely benign rs74069329 GRCh38 Chromosome 12, 21657825: 21657825
6 LDHB NM_002300.7(LDHB): c.-81G> C single nucleotide variant Likely benign rs74069329 GRCh37 Chromosome 12, 21810759: 21810759
7 LDHB NM_002300.7(LDHB): c.375C> T (p.Ile125=) single nucleotide variant Uncertain significance rs141707607 GRCh38 Chromosome 12, 21643981: 21643981
8 LDHB NM_002300.7(LDHB): c.375C> T (p.Ile125=) single nucleotide variant Uncertain significance rs141707607 GRCh37 Chromosome 12, 21796915: 21796915
9 LDHB NM_002300.7(LDHB): c.749A> G (p.Asn250Ser) single nucleotide variant Uncertain significance rs144739734 GRCh37 Chromosome 12, 21790093: 21790093
10 LDHB NM_002300.7(LDHB): c.749A> G (p.Asn250Ser) single nucleotide variant Uncertain significance rs144739734 GRCh38 Chromosome 12, 21637159: 21637159
11 LDHB NM_002300.7(LDHB): c.727A> G (p.Ile243Val) single nucleotide variant Uncertain significance rs750220072 GRCh37 Chromosome 12, 21790115: 21790115
12 LDHB NM_002300.7(LDHB): c.727A> G (p.Ile243Val) single nucleotide variant Uncertain significance rs750220072 GRCh38 Chromosome 12, 21637181: 21637181
13 LDHB NM_002300.7(LDHB): c.719A> G (p.Tyr240Cys) single nucleotide variant Uncertain significance rs369382991 GRCh37 Chromosome 12, 21790123: 21790123
14 LDHB NM_002300.7(LDHB): c.719A> G (p.Tyr240Cys) single nucleotide variant Uncertain significance rs369382991 GRCh38 Chromosome 12, 21637189: 21637189
15 LDHB NM_002300.7(LDHB): c.528T> A (p.Ala176=) single nucleotide variant Uncertain significance rs886049164 GRCh37 Chromosome 12, 21794953: 21794953
16 LDHB NM_002300.7(LDHB): c.528T> A (p.Ala176=) single nucleotide variant Uncertain significance rs886049164 GRCh38 Chromosome 12, 21642019: 21642019
17 LDHB NM_002300.7(LDHB): c.472C> T (p.Arg158Cys) single nucleotide variant Uncertain significance rs532712842 GRCh37 Chromosome 12, 21795009: 21795009
18 LDHB NM_002300.7(LDHB): c.472C> T (p.Arg158Cys) single nucleotide variant Uncertain significance rs532712842 GRCh38 Chromosome 12, 21642075: 21642075
19 LDHB NM_002300.7(LDHB): c.421+7T> C single nucleotide variant Uncertain significance rs375249355 GRCh38 Chromosome 12, 21643928: 21643928
20 LDHB NM_002300.7(LDHB): c.421+7T> C single nucleotide variant Uncertain significance rs375249355 GRCh37 Chromosome 12, 21796862: 21796862
21 LDHB NM_002300.7(LDHB): c.129+11A> G single nucleotide variant Uncertain significance rs886049166 GRCh38 Chromosome 12, 21654532: 21654532
22 LDHB NM_002300.7(LDHB): c.129+11A> G single nucleotide variant Uncertain significance rs886049166 GRCh37 Chromosome 12, 21807466: 21807466
23 LDHB NM_002300.7(LDHB): c.-102C> A single nucleotide variant Uncertain significance rs542962114 GRCh38 Chromosome 12, 21657846: 21657846
24 LDHB NM_002300.7(LDHB): c.-102C> A single nucleotide variant Uncertain significance rs542962114 GRCh37 Chromosome 12, 21810780: 21810780
25 LDHB NM_002300.7(LDHB): c.*73T> C single nucleotide variant Uncertain significance rs886049163 GRCh37 Chromosome 12, 21788403: 21788403
26 LDHB NM_002300.7(LDHB): c.*73T> C single nucleotide variant Uncertain significance rs886049163 GRCh38 Chromosome 12, 21635469: 21635469
27 LDHB NM_002300.7(LDHB): c.879A> G (p.Pro293=) single nucleotide variant Likely benign rs4828 GRCh37 Chromosome 12, 21788602: 21788602
28 LDHB NM_002300.7(LDHB): c.879A> G (p.Pro293=) single nucleotide variant Likely benign rs4828 GRCh38 Chromosome 12, 21635668: 21635668
29 LDHB NM_002300.7(LDHB): c.585C> T (p.Gly195=) single nucleotide variant Uncertain significance rs141629567 GRCh37 Chromosome 12, 21794896: 21794896
30 LDHB NM_002300.7(LDHB): c.585C> T (p.Gly195=) single nucleotide variant Uncertain significance rs141629567 GRCh38 Chromosome 12, 21641962: 21641962
31 LDHB NM_002300.7(LDHB): c.422-10A> G single nucleotide variant Uncertain significance rs886049165 GRCh37 Chromosome 12, 21795069: 21795069
32 LDHB NM_002300.7(LDHB): c.422-10A> G single nucleotide variant Uncertain significance rs886049165 GRCh38 Chromosome 12, 21642135: 21642135
33 LDHB NM_002300.7(LDHB): c.130-3_130-2delCA deletion Likely benign rs200371155 GRCh38 Chromosome 12, 21647018: 21647019
34 LDHB NM_002300.7(LDHB): c.130-3_130-2delCA deletion Likely benign rs200371155 GRCh37 Chromosome 12, 21799952: 21799953
35 LDHB NM_002300.7(LDHB): c.-109C> T single nucleotide variant Uncertain significance rs886049167 GRCh38 Chromosome 12, 21657853: 21657853
36 LDHB NM_002300.7(LDHB): c.-109C> T single nucleotide variant Uncertain significance rs886049167 GRCh37 Chromosome 12, 21810787: 21810787

Expression for Lactate Dehydrogenase B Deficiency

Search GEO for disease gene expression data for Lactate Dehydrogenase B Deficiency.

Pathways for Lactate Dehydrogenase B Deficiency

GO Terms for Lactate Dehydrogenase B Deficiency

Sources for Lactate Dehydrogenase B Deficiency

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