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 ¹⁹ ⁵⁸ ⁷³ ³⁸ ⁷¹

Glycogen Storage Disease Due to Lactate Dehydrogenase H-Subunit Deficiency ⁵⁸ ²⁸ ⁵

Ldhbd ⁵⁷ ¹⁹ ⁷³

Glycogenosis Due to Lactate Dehydrogenase H-Subunit Deficiency ⁵⁸

Gsd Due to Lactate Dehydrogenase H-Subunit Deficiency ⁵⁸

Lactate Dehydrogenase Deficiency Type B ¹⁹

Lactate Dehydrogenase-B Deficiency ⁵⁷

Ldh-H Subunit Deficiency ⁵⁸

Ldh Deficiency B ¹⁹

Characteristics:

Inheritance:

Glycogen Storage Disease Due to Lactate Dehydrogenase H-Subunit Deficiency: Autosomal dominant,Autosomal recessive ⁵⁸

Age Of Onset:

Glycogen Storage Disease Due to Lactate Dehydrogenase H-Subunit Deficiency: Adult ⁵⁸

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other disorders of carbohydrate metabolism

Glycogen storage disease

Orphanet: ⁵⁸

Inborn errors of metabolism

External Ids:

OMIM® ⁵⁷ 614128

ICD10 via Orphanet ³² E74.0

UMLS via Orphanet ⁷² C3279904

Orphanet ⁵⁸ ORPHA284435

MedGen ⁴⁰ C1835592 C3279904

UMLS ⁷¹ C3279904

Sources

Summaries for Lactate Dehydrogenase B Deficiency

GARD: ¹⁹ 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 genetic changes in the LDHB gene and is inherited in an autosomal recessive manner.

MalaCards based summary: Lactate Dehydrogenase B Deficiency, also known as glycogen storage disease due to lactate dehydrogenase h-subunit deficiency, is related to lactate dehydrogenase deficiency and glycogen storage disease due to lactate dehydrogenase deficiency. An important gene associated with Lactate Dehydrogenase B Deficiency is LDHB (Lactate Dehydrogenase B). Related phenotype is reduced lactate dehydrogenase b level.

UniProtKB/Swiss-Prot: ⁷³ 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.

More information 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	11.6
2	glycogen storage disease due to lactate dehydrogenase deficiency	11.4

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Symptoms & Phenotypes for Lactate Dehydrogenase B Deficiency

Human phenotypes related to Lactate Dehydrogenase B Deficiency:

³⁰

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	reduced lactate dehydrogenase b level ³⁰			HP:0045041

Clinical features from OMIM®:

614128 (Updated 08-Dec-2022)

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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	Glycogen Storage Disease Due to Lactate Dehydrogenase H-Subunit Deficiency ²⁸	LDHB

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Anatomical Context for Lactate Dehydrogenase B Deficiency

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Publications for Lactate Dehydrogenase B Deficiency

Articles related to Lactate Dehydrogenase B Deficiency:

#	Title	Authors	PMID	Year
1	Genetic analyses in homozygous and heterozygous variants of lactate dehydrogenase-B (H) subunit--LD-B Matsumoto I and II (LD-B W323R). ⁵⁷ ⁵	Okumura N...Katsuyama T	10509905	1999
2	A missense mutation found in human lactate dehydrogenase-B (H) variant gene. ⁵⁷ ⁵	Sudo K...Li SS	2334429	1990
3	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. ⁵⁷	Maekawa M...Kanno T	8270259	1994
4	Analysis of a genetic mutation in an electrophoretic variant of the human lactate dehydrogenase-B(H) subunit. ⁵	Maekawa M...Kanno T	8314553	1993
5	Molecular characterization of genetic mutations in human lactate dehydrogenase (LDH) B (H) variant. ⁵	Sudo K...Toriumi J	1587525	1992
6	Lactate dehydrogenase. Biochemistry and function of lactate dehydrogenase. ⁵⁷	Markert CL	6383647	1984
7	Hereditary deficiency of subunit H of lactate dehydrogenase. ⁵⁷	Kitamura M...Hiratsuka A	5119336	1971
8	Studies on erythrocyte metabolism in a case with hereditary deficiency of H-subunit of lactate dehydrogenase. ⁵⁷	Miwa S...Hiratsuka A	5170469	1971
9	Implications of the mitochondrial interactome of mammalian thioredoxin 2 for normal cellular function and disease. ⁶²	Chasapis CT...Vlamis-Gardikas A	31018154	2019
10	[LDH-H subunit deficiency]. ⁶²	Houki N...Tsukada T	3747188	1986

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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	PubMed IDs
1	LDHB	Lactate Dehydrogenase B	Protein Coding	1317.85	Molecular basis known ⁵⁷ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ Typically genetic variations that lead to apparently abnormal laboratory test values ⁵⁷ GeneCards inferred via : Disorders Summaries (show sections)

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Variations for Lactate Dehydrogenase B Deficiency

ClinVar genetic disease variations for Lactate Dehydrogenase B Deficiency:

⁵ (show all 34)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	LDHB	NM_002300.8(LDHB):c.515G>A (p.Arg172His)	SNV	Affects	14562	rs118203895	GRCh37: 12:21794966-21794966 GRCh38: 12:21642032-21642032
2	LDHB	NM_002300.8(LDHB):c.385A>C (p.Ser129Arg)	SNV	Affects	14563	rs118203896	GRCh37: 12:21796905-21796905 GRCh38: 12:21643971-21643971
3	LDHB	NM_002300.8(LDHB):c.19A>G (p.Lys7Glu)	SNV	Affects	14564	rs118203897	GRCh37: 12:21807587-21807587 GRCh38: 12:21654653-21654653
4	LDHB	NM_002300.8(LDHB):c.973T>C (p.Trp325Arg)	SNV	Affects	14565	rs267607212	GRCh37: 12:21788508-21788508 GRCh38: 12:21635574-21635574
5	LDHB	NM_002300.8(LDHB):c.585C>T (p.Gly195=)	SNV	Uncertain Significance	308021	rs141629567	GRCh37: 12:21794896-21794896 GRCh38: 12:21641962-21641962
6	LDHB	NM_002300.8(LDHB):c.422-10A>G	SNV	Uncertain Significance	308024	rs886049165	GRCh37: 12:21795069-21795069 GRCh38: 12:21642135-21642135
7	LDHB	NM_002300.8(LDHB):c.749A>G (p.Asn250Ser)	SNV	Uncertain Significance	308016	rs144739734	GRCh37: 12:21790093-21790093 GRCh38: 12:21637159-21637159
8	LDHB	NM_002300.8(LDHB):c.129+11A>G	SNV	Uncertain Significance	308028	rs886049166	GRCh37: 12:21807466-21807466 GRCh38: 12:21654532-21654532
9	LDHB	NM_002300.8(LDHB):c.528T>A (p.Ala176=)	SNV	Uncertain Significance	308022	rs886049164	GRCh37: 12:21794953-21794953 GRCh38: 12:21642019-21642019
10	LDHB	NM_002300.8(LDHB):c.421+7T>C	SNV	Uncertain Significance	308025	rs375249355	GRCh37: 12:21796862-21796862 GRCh38: 12:21643928-21643928
11	LDHB	NM_002300.8(LDHB):c.*73T>C	SNV	Uncertain Significance	308014	rs886049163	GRCh37: 12:21788403-21788403 GRCh38: 12:21635469-21635469
12	LDHB	NM_002300.8(LDHB):c.727A>G (p.Ile243Val)	SNV	Uncertain Significance	308017	rs750220072	GRCh37: 12:21790115-21790115 GRCh38: 12:21637181-21637181
13	LDHB	NM_002300.8(LDHB):c.621G>T (p.Val207=)	SNV	Uncertain Significance	308020	rs147896432	GRCh37: 12:21791379-21791379 GRCh38: 12:21638445-21638445
14	LDHB	NM_002300.8(LDHB):c.375C>T (p.Ile125=)	SNV	Uncertain Significance	308026	rs141707607	GRCh37: 12:21796915-21796915 GRCh38: 12:21643981-21643981
15	LDHB	NM_002300.8(LDHB):c.719A>G (p.Tyr240Cys)	SNV	Uncertain Significance	308018	rs369382991	GRCh37: 12:21790123-21790123 GRCh38: 12:21637189-21637189
16	LDHB	NM_002300.8(LDHB):c.946C>T (p.Gln316Ter)	SNV	Uncertain Significance	631681	rs1565623986	GRCh37: 12:21788535-21788535 GRCh38: 12:21635601-21635601
17	LDHB	NM_002300.8(LDHB):c.826A>G (p.Thr276Ala)	SNV	Uncertain Significance	880881	rs200158121	GRCh37: 12:21790016-21790016 GRCh38: 12:21637082-21637082
18	LDHB	NM_002300.8(LDHB):c.782T>C (p.Ile261Thr)	SNV	Uncertain Significance	880882	rs775184475	GRCh37: 12:21790060-21790060 GRCh38: 12:21637126-21637126
19	LDHB	NM_002300.8(LDHB):c.767G>A (p.Ser256Asn)	SNV	Uncertain Significance	880883	rs145355418	GRCh37: 12:21790075-21790075 GRCh38: 12:21637141-21637141
20	LDHB	NM_002300.8(LDHB):c.523A>G (p.Met175Val)	SNV	Uncertain Significance	882255	rs7966339	GRCh37: 12:21794958-21794958 GRCh38: 12:21642024-21642024
21	LDHB	NM_002300.8(LDHB):c.210C>A (p.Ser70Arg)	SNV	Uncertain Significance	882518	rs1938542112	GRCh37: 12:21799870-21799870 GRCh38: 12:21646936-21646936
22	LDHB	NM_002300.8(LDHB):c.178A>G (p.Lys60Glu)	SNV	Uncertain Significance	882519	rs1938543300	GRCh37: 12:21799902-21799902 GRCh38: 12:21646968-21646968
23	LDHB	NM_002300.8(LDHB):c.130-8G>A	SNV	Uncertain Significance	882520	rs369064312	GRCh37: 12:21799958-21799958 GRCh38: 12:21647024-21647024
24	LDHB	NM_002300.8(LDHB):c.-34A>G	SNV	Uncertain Significance	882521	rs1938903896	GRCh37: 12:21810712-21810712 GRCh38: 12:21657778-21657778
25	LDHB	NM_002300.8(LDHB):c.-71C>G	SNV	Uncertain Significance	883306	rs977721300	GRCh37: 12:21810749-21810749 GRCh38: 12:21657815-21657815
26	LDHB	NM_002300.8(LDHB):c.843G>A (p.Met281Ile)	SNV	Uncertain Significance	884169	rs150060988	GRCh37: 12:21788638-21788638 GRCh38: 12:21635704-21635704
27	LDHB	NM_002300.7(LDHB):c.-102C>A	SNV	Uncertain Significance	308030	rs542962114	GRCh37: 12:21810780-21810780 GRCh38: 12:21657846-21657846
28	LDHB	NM_002300.7(LDHB):c.-109C>T	SNV	Uncertain Significance	308031	rs886049167	GRCh37: 12:21810787-21810787 GRCh38: 12:21657853-21657853
29	LDHB	NM_002300.8(LDHB):c.130-3_130-2del	DEL	Likely Benign	308027	rs200371155	GRCh37: 12:21799952-21799953 GRCh38: 12:21647018-21647019
30	LDHB	NM_002300.8(LDHB):c.472C>T (p.Arg158Cys)	SNV	Likely Benign	308023	rs532712842	GRCh37: 12:21795009-21795009 GRCh38: 12:21642075-21642075
31	LDHB	NM_002300.8(LDHB):c.-81G>C	SNV	Benign	308029	rs74069329	GRCh37: 12:21810759-21810759 GRCh38: 12:21657825-21657825
32	LDHB	NM_002300.8(LDHB):c.713+15A>G	SNV	Benign	308019	rs1650289	GRCh37: 12:21791272-21791272 GRCh38: 12:21638338-21638338
33	LDHB	NM_002300.8(LDHB):c.879A>G (p.Pro293=)	SNV	Benign	308015	rs4828	GRCh37: 12:21788602-21788602 GRCh38: 12:21635668-21635668
34	LDHB	NM_002300.8(LDHB):c.421+13A>G	SNV	Benign	882256	rs76163762	GRCh37: 12:21796856-21796856 GRCh38: 12:21643922-21643922

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

⁷³ (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

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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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Sources for Lactate Dehydrogenase B Deficiency

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LDHBD MCID: LCT017 MIFTS: 23	Lactate Dehydrogenase B Deficiency (LDHBD) Categories: Genetic diseases, Metabolic diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Related diseases Publications Symptoms & Phenotypes Expand all tables

Lactate Dehydrogenase B Deficiency (LDHBD)

Aliases & Classifications for Lactate Dehydrogenase B Deficiency

MalaCards integrated aliases for Lactate Dehydrogenase B Deficiency:

Characteristics:

Inheritance:

Age Of Onset:

Classifications:

External Ids:

Summaries for Lactate Dehydrogenase B Deficiency

Related Diseases for Lactate Dehydrogenase B Deficiency

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

Symptoms & Phenotypes for Lactate Dehydrogenase B Deficiency

Human phenotypes related to Lactate Dehydrogenase B Deficiency:

Clinical features from OMIM®:

Drugs & Therapeutics for Lactate Dehydrogenase B Deficiency

Genetic Tests for Lactate Dehydrogenase B Deficiency

Genetic tests related to Lactate Dehydrogenase B Deficiency:

Anatomical Context for Lactate Dehydrogenase B Deficiency

Publications for Lactate Dehydrogenase B Deficiency

Articles related to Lactate Dehydrogenase B Deficiency:

Genes for Lactate Dehydrogenase B Deficiency

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

Variations for Lactate Dehydrogenase B Deficiency

ClinVar genetic disease variations for Lactate Dehydrogenase B Deficiency:

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

Expression for Lactate Dehydrogenase B Deficiency

Pathways for Lactate Dehydrogenase B Deficiency

GO Terms for Lactate Dehydrogenase B Deficiency

Sources for Lactate Dehydrogenase B Deficiency