MCID: LCT017
MIFTS: 23

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 53 49 55 71 28 69
Ldhbd 53 49 71
Lactate Dehydrogenase-B Deficiency 53 13
Glycogen Storage Disease Due to Lactate Dehydrogenase H-Subunit Deficiency 55
Glycogenosis Due to Lactate Dehydrogenase H-Subunit Deficiency 55
Gsd Due to Lactate Dehydrogenase H-Subunit Deficiency 55
Lactate Dehydrogenase Deficiency Type B 49
Ldh-H Subunit Deficiency 55
Lactate Dehydrogenase B 13
Ldh Deficiency B 49

Characteristics:

Orphanet epidemiological data:

55
glycogen storage disease due to lactate dehydrogenase h-subunit deficiency
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adult;

Classifications:

Orphanet: 55  
Inborn errors of metabolism


External Ids:

OMIM 53 614128
Orphanet 55 ORPHA284435
UMLS via Orphanet 70 C3279904
ICD10 via Orphanet 33 E74.0
UMLS 69 C3279904

Summaries for Lactate Dehydrogenase B Deficiency

NIH Rare Diseases : 49 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 ldhbd, is related to lactate dehydrogenase deficiency, and has symptoms including reduced lactate dehydrogenase b level An important gene associated with Lactate Dehydrogenase B Deficiency is LDHB (Lactate Dehydrogenase B). Affiliated tissues include testes.

UniProtKB/Swiss-Prot : 71 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:

31
# Description HPO Frequency HPO Source Accession
1 reduced lactate dehydrogenase b level 31 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 28 LDHB

Anatomical Context for Lactate Dehydrogenase B Deficiency

MalaCards organs/tissues related to Lactate Dehydrogenase B Deficiency:

38
Testes

Publications for Lactate Dehydrogenase B Deficiency

Articles related to Lactate Dehydrogenase B Deficiency:

(show all 26)
# Title Authors Year
1
Lactate Dehydrogenase B Controls Lysosome Activity and Autophagy in Cancer. ( 27622334 )
2016
2
Lactate dehydrogenase B is associated with the response to neoadjuvant chemotherapy in oral squamous cell carcinoma. ( 25973606 )
2015
3
Inhibition of stress mediated cell death by human lactate dehydrogenase B in yeast. ( 26032856 )
2015
4
Lactate dehydrogenase B is required for the growth of KRAS-dependent lung adenocarcinomas. ( 23224736 )
2013
5
Lactate dehydrogenase B: a metabolic marker of response to neoadjuvant chemotherapy in breast cancer. ( 23697991 )
2013
6
Lactate dehydrogenase-B is silenced by promoter methylation in a high frequency of human breast cancers. ( 23437403 )
2013
7
Tumor suppressive microRNA-375 regulates lactate dehydrogenase B in maxillary sinus squamous cell carcinoma. ( 21922130 )
2012
8
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
9
Lactate dehydrogenase B is critical for hyperactive mTOR-mediated tumorigenesis. ( 21199794 )
2011
10
Decreased lactate dehydrogenase B expression enhances claudin 1-mediated hepatoma cell invasiveness via mitochondrial defects. ( 21356207 )
2011
11
Comparative characterization of a temperature responsive gene (lactate dehydrogenase-B, ldh-b) in two congeneric tropical fish, Lates calcarifer and Lates niloticus. ( 19787021 )
2009
12
[Identification and clinical evaluation of lung cancer serum biomarker L-lactate dehydrogenase B]. ( 17988549 )
2007
13
Lactate dehydrogenase-B is silenced by promoter hypermethylation in human prostate cancer. ( 16547507 )
2006
14
Elevation of serum l-lactate dehydrogenase B correlated with the clinical stage of lung cancer. ( 16890323 )
2006
15
A novel missense mutation in human lactate dehydrogenase b-subunit gene. ( 11509017 )
2001
16
Genetic analyses in homozygous and heterozygous variants of lactate dehydrogenase-B (H) subunit--LD-B Matsumoto I and II (LD-B W323R). ( 10509905 )
1999
17
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
18
Analysis of a genetic mutation in an electrophoretic variant of the human lactate dehydrogenase-B(H) subunit. ( 8314553 )
1993
19
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
20
Human centrosomal epitope is shared specifically with human lactate dehydrogenase-B isozyme. ( 1371976 )
1992
21
Human lactate dehydrogenase-B processed pseudogene: nucleotide sequence analysis and assignment to the X-chromosome. ( 2393406 )
1990
22
A missense mutation found in human lactate dehydrogenase-B (H) variant gene. ( 2334429 )
1990
23
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
24
Structure of the human lactate dehydrogenase B gene. ( 2930497 )
1989
25
The cDNA and protein sequences of human lactate dehydrogenase B. ( 3435492 )
1987
26
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:

71 (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

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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