LDHBD
MCID: LCT017
MIFTS: 23

Lactate Dehydrogenase B Deficiency (LDHBD)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Lactate Dehydrogenase B Deficiency

MalaCards integrated aliases for Lactate Dehydrogenase B Deficiency:

Name: Lactate Dehydrogenase B Deficiency 57 20 58 72 29 6 39 70
Ldhbd 57 20 72
Lactate Dehydrogenase-B Deficiency 57 13
Glycogen Storage Disease Due to Lactate Dehydrogenase H-Subunit Deficiency 58
Glycogenosis Due to Lactate Dehydrogenase H-Subunit Deficiency 58
Gsd Due to Lactate Dehydrogenase H-Subunit Deficiency 58
Lactate Dehydrogenase Deficiency Type B 20
Ldh-H Subunit Deficiency 58
Ldh Deficiency B 20

Characteristics:

Orphanet epidemiological data:

58
glycogen storage disease due to lactate dehydrogenase h-subunit deficiency
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adult;

Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

OMIM® 57 614128
ICD10 via Orphanet 33 E74.0
UMLS via Orphanet 71 C3279904
Orphanet 58 ORPHA284435
UMLS 70 C3279904

Summaries for Lactate Dehydrogenase B Deficiency

GARD : 20 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). Related phenotype is reduced lactate dehydrogenase b level.

UniProtKB/Swiss-Prot : 72 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.

More information 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 11.6

Symptoms & Phenotypes for Lactate Dehydrogenase B Deficiency

Human phenotypes related to Lactate Dehydrogenase B Deficiency:

31
# Description HPO Frequency HPO Source Accession
1 reduced lactate dehydrogenase b level 31 HP:0045041

Clinical features from OMIM®:

614128 (Updated 05-Apr-2021)

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

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). 6 57
10509905 1999
2
A missense mutation found in human lactate dehydrogenase-B (H) variant gene. 57 6
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
8270259 1994
4
Analysis of a genetic mutation in an electrophoretic variant of the human lactate dehydrogenase-B(H) subunit. 6
8314553 1993
5
Molecular characterization of genetic mutations in human lactate dehydrogenase (LDH) B (H) variant. 6
1587525 1992
6
Lactate dehydrogenase. Biochemistry and function of lactate dehydrogenase. 57
6383647 1984
7
Hereditary deficiency of subunit H of lactate dehydrogenase. 57
5119336 1971
8
Studies on erythrocyte metabolism in a case with hereditary deficiency of H-subunit of lactate dehydrogenase. 57
5170469 1971
9
Implications of the mitochondrial interactome of mammalian thioredoxin 2 for normal cellular function and disease. 61
31018154 2019

Variations for Lactate Dehydrogenase B Deficiency

ClinVar genetic disease variations for Lactate Dehydrogenase B Deficiency:

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

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

72 (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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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