Lactate Dehydrogenase B Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other disorders of carbohydrate metabolism

Glycogen storage disease

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

MedGen ⁴² C3279904 C1835592

UMLS ⁷³ C3279904

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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

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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

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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

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Drugs & Therapeutics for Lactate Dehydrogenase B Deficiency

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

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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

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Anatomical Context for Lactate Dehydrogenase B Deficiency

MalaCards organs/tissues related to Lactate Dehydrogenase B Deficiency:

⁴¹

Testes, Lung, Testis, Prostate, Heart

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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 )	Brisson L....Sonveaux P.	2016
2	Inhibition of stress mediated cell death by human lactate dehydrogenase B in yeast. ( 26032856 )	Sheibani S....Greenwood M.T.	2015
3	Lactate dehydrogenase B is associated with the response to neoadjuvant chemotherapy in oral squamous cell carcinoma. ( 25973606 )	Sun W....Huang M.	2015
4	Lactate dehydrogenase B is required for the growth of KRAS-dependent lung adenocarcinomas. ( 23224736 )	McCleland M.L....Firestein R.	2013
5	Lactate dehydrogenase-B is silenced by promoter methylation in a high frequency of human breast cancers. ( 23437403 )	Brown N.J....Rehman I.	2013
6	Lactate dehydrogenase B: a metabolic marker of response to neoadjuvant chemotherapy in breast cancer. ( 23697991 )	Dennison J.B....Mills G.B.	2013
7	Tumor suppressive microRNA-375 regulates lactate dehydrogenase B in maxillary sinus squamous cell carcinoma. ( 21922130 )	Kinoshita T....Seki N.	2012
8	Lactate dehydrogenase B is critical for hyperactive mTOR-mediated tumorigenesis. ( 21199794 )	Zha X....Zhang H.	2011
9	Decreased lactate dehydrogenase B expression enhances claudin 1-mediated hepatoma cell invasiveness via mitochondrial defects. ( 21356207 )	Kim J.H....Yoon G.	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 )	Liao A.C....Wu T.F.	2011
11	A novel hypoxia-response element in the lactate dehydrogenase-B gene of the killifish Fundulus heteroclitus. ( 19439190 )	Rees B.B....Schulte P.M.	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 )	Edmunds R.C....Jerry D.R.	2009
13	[Identification and clinical evaluation of lung cancer serum biomarker L-lactate dehydrogenase B]. ( 17988549 )	Chen Y....Xiao X.Y.	2007
14	Lactate dehydrogenase-B is silenced by promoter hypermethylation in human prostate cancer. ( 16547507 )	Leiblich A....Rehman I.	2006
15	Elevation of serum l-lactate dehydrogenase B correlated with the clinical stage of lung cancer. ( 16890323 )	Chen Y....Xiao X.	2006
16	A novel missense mutation in human lactate dehydrogenase b-subunit gene. ( 11509017 )	Takatani T....Okamoto Y.	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 )	Okumura N....Katsuyama T.	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 )	Maekawa M....Kanno T.	1994
19	Analysis of a genetic mutation in an electrophoretic variant of the human lactate dehydrogenase-B(H) subunit. ( 8314553 )	Maekawa M....Kanno T.	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 )	Maekawa M....Kanno T.	1993
21	Human centrosomal epitope is shared specifically with human lactate dehydrogenase-B isozyme. ( 1371976 )	Gosti F....Bornens M.	1992
22	A missense mutation found in human lactate dehydrogenase-B (H) variant gene. ( 2334429 )	Sudo K....Li S.S.-L.	1990
23	Human lactate dehydrogenase-B processed pseudogene: nucleotide sequence analysis and assignment to the X-chromosome. ( 2393406 )	Sudo K....Li S.S.	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 )	Hiraoka B.Y....Li S.S.	1990
25	Structure of the human lactate dehydrogenase B gene. ( 2930497 )	Takeno T....Li S.S.-L.	1989
26	The cDNA and protein sequences of human lactate dehydrogenase B. ( 3435492 )	Sakai I....Li S.S.-L.	1987
27	Genetic variation and relative catalytic efficiencies: lactate dehydrogenase B allozymes of Fundulus heteroclitus. ( 36616 )	Place A.R....Powers D.A.	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 )	Chen T.R....Ruddle F.	1973

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Genes for Lactate Dehydrogenase B Deficiency

Genes related to Lactate Dehydrogenase B Deficiency (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	LDHB	Lactate Dehydrogenase B	Protein Coding	1340.29	Molecular basis known ⁵⁷ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Typically genetic variations that lead to apparently abnormal laboratory test values ⁵⁷ GeneCards inferred via : Disorders Summaries Variants (show sections)

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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

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Expression for Lactate Dehydrogenase B Deficiency

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

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Pathways for Lactate Dehydrogenase B Deficiency

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GO Terms for Lactate Dehydrogenase B Deficiency

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